Incidental Mutation 'R4911:Col7a1'
| ID |
379547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col7a1
|
| Ensembl Gene |
ENSMUSG00000025650 |
| Gene Name |
collagen, type VII, alpha 1 |
| Synonyms |
|
| MMRRC Submission |
042513-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4911 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108782654-108813943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108804287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 2233
(G2233S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026740]
[ENSMUST00000112070]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000026740
AA Change: G2233S
|
| SMART Domains |
Protein: ENSMUSP00000026740
Gene: ENSMUSG00000025650
AA Change: G2233S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
VWA
|
37 |
217 |
1.56e-51 |
SMART |
|
FN3
|
233 |
319 |
1.41e-10 |
SMART |
|
FN3
|
325 |
405 |
6.54e-6 |
SMART |
|
FN3
|
416 |
494 |
6.91e-5 |
SMART |
|
FN3
|
509 |
585 |
1.24e-6 |
SMART |
|
FN3
|
599 |
675 |
2.01e-6 |
SMART |
|
FN3
|
687 |
763 |
7.45e-10 |
SMART |
|
FN3
|
774 |
854 |
6.01e-5 |
SMART |
|
FN3
|
865 |
944 |
7.23e-8 |
SMART |
|
FN3
|
955 |
1038 |
2.16e-6 |
SMART |
|
Pfam:VWA
|
1055 |
1227 |
2.3e-22 |
PFAM |
|
Pfam:Collagen
|
1244 |
1311 |
2.4e-8 |
PFAM |
|
Pfam:Collagen
|
1294 |
1355 |
4.1e-10 |
PFAM |
|
low complexity region
|
1397 |
1414 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1447 |
1504 |
1.3e-9 |
PFAM |
|
Pfam:Collagen
|
1487 |
1547 |
5e-8 |
PFAM |
|
low complexity region
|
1572 |
1595 |
N/A |
INTRINSIC |
|
low complexity region
|
1604 |
1632 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1646 |
1714 |
2.8e-10 |
PFAM |
|
Pfam:Collagen
|
1713 |
1775 |
1.9e-10 |
PFAM |
|
low complexity region
|
1776 |
1794 |
N/A |
INTRINSIC |
|
low complexity region
|
1803 |
1833 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1875 |
1935 |
1.5e-8 |
PFAM |
|
Pfam:Collagen
|
1969 |
2033 |
2.4e-9 |
PFAM |
|
Pfam:Collagen
|
2025 |
2092 |
9.1e-10 |
PFAM |
|
Pfam:Collagen
|
2089 |
2158 |
1.3e-10 |
PFAM |
|
Pfam:Collagen
|
2147 |
2209 |
1.6e-9 |
PFAM |
|
Pfam:Collagen
|
2245 |
2312 |
1.4e-8 |
PFAM |
|
Pfam:Collagen
|
2313 |
2365 |
2.5e-8 |
PFAM |
|
Pfam:Collagen
|
2364 |
2423 |
7.3e-10 |
PFAM |
|
Pfam:Collagen
|
2398 |
2457 |
1.5e-9 |
PFAM |
|
Pfam:Collagen
|
2456 |
2515 |
8.4e-11 |
PFAM |
|
Pfam:Collagen
|
2516 |
2572 |
1.9e-9 |
PFAM |
|
Pfam:Collagen
|
2560 |
2630 |
7.2e-9 |
PFAM |
|
Pfam:Collagen
|
2605 |
2682 |
6e-9 |
PFAM |
|
Pfam:Collagen
|
2659 |
2722 |
2e-8 |
PFAM |
|
low complexity region
|
2745 |
2775 |
N/A |
INTRINSIC |
|
Pfam:Kunitz_BPTI
|
2878 |
2932 |
3.2e-19 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000112070
AA Change: G2233S
|
| SMART Domains |
Protein: ENSMUSP00000107701
Gene: ENSMUSG00000025650
AA Change: G2233S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
VWA
|
37 |
217 |
1.56e-51 |
SMART |
|
FN3
|
233 |
319 |
1.41e-10 |
SMART |
|
FN3
|
325 |
405 |
6.54e-6 |
SMART |
|
FN3
|
416 |
494 |
6.91e-5 |
SMART |
|
FN3
|
509 |
585 |
1.24e-6 |
SMART |
|
FN3
|
599 |
675 |
2.01e-6 |
SMART |
|
FN3
|
687 |
763 |
7.45e-10 |
SMART |
|
FN3
|
774 |
854 |
6.01e-5 |
SMART |
|
FN3
|
865 |
944 |
7.23e-8 |
SMART |
|
FN3
|
955 |
1038 |
2.16e-6 |
SMART |
|
Pfam:VWA
|
1055 |
1230 |
2.2e-19 |
PFAM |
|
Pfam:Collagen
|
1244 |
1311 |
2.5e-8 |
PFAM |
|
Pfam:Collagen
|
1294 |
1355 |
4.2e-10 |
PFAM |
|
low complexity region
|
1397 |
1414 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1447 |
1504 |
1.3e-9 |
PFAM |
|
Pfam:Collagen
|
1487 |
1547 |
5.1e-8 |
PFAM |
|
low complexity region
|
1572 |
1595 |
N/A |
INTRINSIC |
|
low complexity region
|
1604 |
1632 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1646 |
1714 |
2.9e-10 |
PFAM |
|
Pfam:Collagen
|
1713 |
1775 |
1.9e-10 |
PFAM |
|
low complexity region
|
1776 |
1794 |
N/A |
INTRINSIC |
|
low complexity region
|
1803 |
1833 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1875 |
1935 |
1.5e-8 |
PFAM |
|
Pfam:Collagen
|
1969 |
2033 |
2.5e-9 |
PFAM |
|
Pfam:Collagen
|
2025 |
2092 |
9.4e-10 |
PFAM |
|
Pfam:Collagen
|
2089 |
2158 |
1.3e-10 |
PFAM |
|
Pfam:Collagen
|
2147 |
2209 |
1.6e-9 |
PFAM |
|
Pfam:Collagen
|
2195 |
2266 |
7.7e-7 |
PFAM |
|
Pfam:Collagen
|
2245 |
2312 |
1.4e-8 |
PFAM |
|
Pfam:Collagen
|
2313 |
2365 |
2.6e-8 |
PFAM |
|
Pfam:Collagen
|
2364 |
2423 |
7.6e-10 |
PFAM |
|
Pfam:Collagen
|
2398 |
2457 |
1.5e-9 |
PFAM |
|
Pfam:Collagen
|
2456 |
2515 |
8.7e-11 |
PFAM |
|
Pfam:Collagen
|
2516 |
2572 |
2e-9 |
PFAM |
|
Pfam:Collagen
|
2560 |
2630 |
7.4e-9 |
PFAM |
|
Pfam:Collagen
|
2605 |
2682 |
6.2e-9 |
PFAM |
|
Pfam:Collagen
|
2659 |
2722 |
2.1e-8 |
PFAM |
|
Pfam:Collagen
|
2719 |
2778 |
1.6e-7 |
PFAM |
|
Pfam:Kunitz_BPTI
|
2878 |
2932 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149142
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
97% (149/153) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 132 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
A |
G |
5: 125,583,224 (GRCm39) |
D260G |
possibly damaging |
Het |
| Aadacl4 |
T |
A |
4: 144,340,362 (GRCm39) |
L29H |
probably damaging |
Het |
| Abca7 |
T |
C |
10: 79,848,022 (GRCm39) |
|
probably null |
Het |
| Adgre1 |
G |
A |
17: 57,754,832 (GRCm39) |
M643I |
possibly damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,596,099 (GRCm39) |
M79K |
probably damaging |
Het |
| Ankrd55 |
T |
A |
13: 112,459,573 (GRCm39) |
|
probably null |
Het |
| Aopep |
A |
T |
13: 63,318,753 (GRCm39) |
|
probably null |
Het |
| Arhgap21 |
A |
G |
2: 20,863,800 (GRCm39) |
I1257T |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,126,690 (GRCm39) |
|
probably benign |
Het |
| Arhgap39 |
A |
G |
15: 76,622,005 (GRCm39) |
S199P |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,249,762 (GRCm39) |
D171G |
probably benign |
Het |
| Atp7a |
T |
C |
X: 105,163,980 (GRCm39) |
V1305A |
probably damaging |
Het |
| B3gnt3 |
T |
A |
8: 72,145,578 (GRCm39) |
R263S |
probably benign |
Het |
| B9d1 |
A |
C |
11: 61,398,497 (GRCm39) |
D59A |
probably benign |
Het |
| Bag2 |
A |
T |
1: 33,787,357 (GRCm39) |
I55N |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,990,004 (GRCm39) |
I29V |
probably benign |
Het |
| Bbs2 |
A |
T |
8: 94,815,743 (GRCm39) |
D174E |
probably damaging |
Het |
| Bmp8b |
T |
C |
4: 123,009,030 (GRCm39) |
W203R |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,986,151 (GRCm39) |
E359D |
possibly damaging |
Het |
| Camp |
T |
A |
9: 109,676,651 (GRCm39) |
|
probably null |
Het |
| Casp4 |
C |
T |
9: 5,328,580 (GRCm39) |
|
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,395,944 (GRCm39) |
T612S |
probably benign |
Het |
| Cd209b |
T |
A |
8: 3,976,640 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
C |
7: 83,632,461 (GRCm39) |
D367G |
probably damaging |
Het |
| Cers5 |
T |
A |
15: 99,644,960 (GRCm39) |
N131I |
probably damaging |
Het |
| Cfhr4 |
T |
G |
1: 139,702,301 (GRCm39) |
D61A |
probably damaging |
Het |
| Chd5 |
T |
G |
4: 152,445,129 (GRCm39) |
V370G |
probably damaging |
Het |
| Cipc |
C |
A |
12: 86,999,531 (GRCm39) |
Q20K |
probably benign |
Het |
| Cnr2 |
T |
A |
4: 135,644,512 (GRCm39) |
F197I |
possibly damaging |
Het |
| Dcdc2b |
T |
A |
4: 129,505,060 (GRCm39) |
I125F |
possibly damaging |
Het |
| Ddi2 |
A |
G |
4: 141,411,713 (GRCm39) |
S400P |
probably benign |
Het |
| Ddx31 |
C |
A |
2: 28,794,696 (GRCm39) |
T664K |
probably benign |
Het |
| Dhx30 |
C |
A |
9: 109,929,992 (GRCm39) |
G35C |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,318,937 (GRCm39) |
T1576I |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,017,280 (GRCm39) |
Y1510C |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,389,930 (GRCm39) |
|
probably null |
Het |
| Dock10 |
C |
A |
1: 80,583,953 (GRCm39) |
G163C |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,457,146 (GRCm39) |
N144S |
probably benign |
Het |
| Elavl2 |
T |
A |
4: 91,196,915 (GRCm39) |
E54D |
possibly damaging |
Het |
| Enam |
T |
G |
5: 88,650,173 (GRCm39) |
S561A |
probably benign |
Het |
| Ercc5 |
C |
A |
1: 44,206,031 (GRCm39) |
H315N |
possibly damaging |
Het |
| Esp31 |
A |
G |
17: 38,955,552 (GRCm39) |
E65G |
possibly damaging |
Het |
| Faap100 |
T |
C |
11: 120,262,939 (GRCm39) |
I806M |
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,974,731 (GRCm39) |
Y263C |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,837 (GRCm39) |
S2719T |
possibly damaging |
Het |
| Fv1 |
T |
C |
4: 147,953,875 (GRCm39) |
V147A |
probably benign |
Het |
| Gal |
T |
C |
19: 3,461,590 (GRCm39) |
E65G |
probably benign |
Het |
| Galnt2l |
A |
G |
8: 123,807,343 (GRCm39) |
|
probably benign |
Het |
| Galnt6 |
T |
C |
15: 100,614,059 (GRCm39) |
T81A |
probably benign |
Het |
| Gcc2 |
A |
G |
10: 58,106,261 (GRCm39) |
E399G |
probably damaging |
Het |
| Gfi1b |
A |
T |
2: 28,500,114 (GRCm39) |
C306S |
probably damaging |
Het |
| Gm10654 |
T |
A |
8: 71,384,496 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4953 |
T |
A |
1: 158,995,929 (GRCm39) |
|
noncoding transcript |
Het |
| Gorasp2 |
T |
C |
2: 70,518,683 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,295,205 (GRCm39) |
|
probably benign |
Het |
| H2-D1 |
A |
G |
17: 35,484,973 (GRCm39) |
E278G |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,368,028 (GRCm39) |
S246T |
probably damaging |
Het |
| Hs2st1 |
T |
C |
3: 144,170,843 (GRCm39) |
T110A |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,322,070 (GRCm39) |
Y4574C |
probably benign |
Het |
| Ighv1-23 |
C |
A |
12: 114,728,372 (GRCm39) |
V17F |
possibly damaging |
Het |
| Ighv8-14 |
A |
T |
12: 115,772,185 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf21 |
C |
T |
4: 139,761,934 (GRCm39) |
R248H |
probably benign |
Het |
| Il22b |
T |
C |
10: 118,130,894 (GRCm39) |
M1V |
probably null |
Het |
| Il23r |
T |
C |
6: 67,400,545 (GRCm39) |
N595S |
probably benign |
Het |
| Il5ra |
G |
T |
6: 106,692,629 (GRCm39) |
P372Q |
probably damaging |
Het |
| Inppl1 |
A |
G |
7: 101,481,516 (GRCm39) |
V222A |
possibly damaging |
Het |
| Ints10 |
T |
C |
8: 69,279,964 (GRCm39) |
V697A |
probably damaging |
Het |
| Isg15 |
T |
A |
4: 156,284,217 (GRCm39) |
T104S |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,406,385 (GRCm39) |
T983A |
probably benign |
Het |
| Kif3b |
A |
T |
2: 153,159,212 (GRCm39) |
K338* |
probably null |
Het |
| Kpna2 |
T |
A |
11: 106,881,545 (GRCm39) |
I362F |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,014,923 (GRCm39) |
T1595M |
probably damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,153,567 (GRCm39) |
T126A |
probably benign |
Het |
| Lrrk1 |
T |
A |
7: 65,945,202 (GRCm39) |
D604V |
probably damaging |
Het |
| Map7d1 |
T |
C |
4: 126,130,484 (GRCm39) |
K409E |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,210,254 (GRCm39) |
T110A |
probably benign |
Het |
| Micall2 |
G |
A |
5: 139,702,580 (GRCm39) |
T221M |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,356,351 (GRCm39) |
N474Y |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,250,378 (GRCm39) |
M528K |
probably benign |
Het |
| Nlrp1c-ps |
G |
T |
11: 71,151,195 (GRCm39) |
|
noncoding transcript |
Het |
| Nostrin |
T |
C |
2: 68,991,486 (GRCm39) |
S160P |
possibly damaging |
Het |
| Nup133 |
T |
C |
8: 124,653,870 (GRCm39) |
R530G |
possibly damaging |
Het |
| Or2f2 |
T |
A |
6: 42,767,138 (GRCm39) |
L55H |
probably damaging |
Het |
| Or5p64 |
T |
C |
7: 107,855,244 (GRCm39) |
I34V |
possibly damaging |
Het |
| Or8c16 |
A |
G |
9: 38,130,392 (GRCm39) |
E91G |
probably damaging |
Het |
| Pabpc4l |
A |
T |
3: 46,400,597 (GRCm39) |
M349K |
possibly damaging |
Het |
| Pah |
G |
A |
10: 87,406,129 (GRCm39) |
G256S |
probably benign |
Het |
| Pigk |
T |
C |
3: 152,445,841 (GRCm39) |
S151P |
probably damaging |
Het |
| Plcd4 |
A |
C |
1: 74,603,572 (GRCm39) |
T658P |
possibly damaging |
Het |
| Pld4 |
A |
T |
12: 112,730,951 (GRCm39) |
S178C |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,886,213 (GRCm39) |
E23K |
possibly damaging |
Het |
| Pomt1 |
T |
C |
2: 32,131,691 (GRCm39) |
S127P |
probably damaging |
Het |
| Pon2 |
A |
G |
6: 5,269,029 (GRCm39) |
V215A |
possibly damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,559,508 (GRCm39) |
M416K |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,318,048 (GRCm39) |
N273K |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,574 (GRCm39) |
|
probably benign |
Het |
| Prkn |
G |
T |
17: 11,059,359 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
G |
A |
13: 63,670,866 (GRCm39) |
T888M |
probably damaging |
Het |
| Pusl1 |
T |
G |
4: 155,975,899 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,513,143 (GRCm39) |
E122D |
probably damaging |
Het |
| Rif1 |
C |
T |
2: 52,000,530 (GRCm39) |
T1328I |
probably damaging |
Het |
| Rngtt |
T |
G |
4: 33,500,292 (GRCm39) |
|
probably null |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Samd1 |
A |
G |
8: 84,725,618 (GRCm39) |
|
probably benign |
Het |
| Scamp5 |
A |
T |
9: 57,358,735 (GRCm39) |
F14I |
probably damaging |
Het |
| Shank3 |
C |
T |
15: 89,388,547 (GRCm39) |
R380C |
probably damaging |
Het |
| Shisal2a |
T |
C |
4: 108,234,658 (GRCm39) |
T70A |
probably benign |
Het |
| Slc1a4 |
C |
A |
11: 20,282,166 (GRCm39) |
A103S |
probably damaging |
Het |
| Slc39a14 |
A |
G |
14: 70,547,371 (GRCm39) |
V325A |
probably benign |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Spata6l |
G |
A |
19: 28,874,903 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,013,213 (GRCm39) |
S375T |
probably damaging |
Het |
| Sval1 |
A |
G |
6: 41,932,378 (GRCm39) |
N76S |
probably benign |
Het |
| Synpo |
C |
T |
18: 60,762,936 (GRCm39) |
|
probably benign |
Het |
| Sytl5 |
C |
T |
X: 9,781,841 (GRCm39) |
P181L |
possibly damaging |
Het |
| Tacc1 |
A |
G |
8: 25,672,622 (GRCm39) |
M111T |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,913,694 (GRCm39) |
D613G |
probably benign |
Het |
| Tecpr2 |
C |
T |
12: 110,897,921 (GRCm39) |
T391I |
possibly damaging |
Het |
| Thop1 |
G |
A |
10: 80,909,125 (GRCm39) |
G52D |
probably damaging |
Het |
| Tmco5 |
T |
A |
2: 116,722,689 (GRCm39) |
V270D |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,556,973 (GRCm39) |
E28265K |
possibly damaging |
Het |
| Tuft1 |
T |
C |
3: 94,542,750 (GRCm39) |
D72G |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,769,144 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,308,041 (GRCm39) |
D2265G |
probably damaging |
Het |
| Vmn2r104 |
G |
A |
17: 20,250,288 (GRCm39) |
A661V |
probably benign |
Het |
| Vwa5a |
A |
T |
9: 38,649,268 (GRCm39) |
N672I |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,535,157 (GRCm39) |
K772* |
probably null |
Het |
| Ybx1 |
T |
C |
4: 119,140,010 (GRCm39) |
T106A |
probably benign |
Het |
| Ypel3 |
T |
C |
7: 126,376,961 (GRCm39) |
S14P |
probably benign |
Het |
| Zfp518a |
T |
A |
19: 40,903,972 (GRCm39) |
S1300R |
probably benign |
Het |
| Zscan5b |
A |
T |
7: 6,242,189 (GRCm39) |
*469Y |
probably null |
Het |
|
| Other mutations in Col7a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Col7a1
|
APN |
9 |
108,806,765 (GRCm39) |
nonsense |
probably null |
|
|
IGL01366:Col7a1
|
APN |
9 |
108,806,187 (GRCm39) |
splice site |
probably benign |
|
|
IGL01395:Col7a1
|
APN |
9 |
108,812,980 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01410:Col7a1
|
APN |
9 |
108,793,686 (GRCm39) |
missense |
unknown |
|
|
IGL01902:Col7a1
|
APN |
9 |
108,806,895 (GRCm39) |
missense |
unknown |
|
|
IGL01915:Col7a1
|
APN |
9 |
108,784,813 (GRCm39) |
missense |
unknown |
|
|
IGL01936:Col7a1
|
APN |
9 |
108,797,067 (GRCm39) |
splice site |
probably benign |
|
|
IGL01943:Col7a1
|
APN |
9 |
108,813,084 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02026:Col7a1
|
APN |
9 |
108,797,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02168:Col7a1
|
APN |
9 |
108,813,143 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02504:Col7a1
|
APN |
9 |
108,809,743 (GRCm39) |
missense |
unknown |
|
|
IGL02510:Col7a1
|
APN |
9 |
108,802,299 (GRCm39) |
splice site |
probably benign |
|
|
IGL02559:Col7a1
|
APN |
9 |
108,802,284 (GRCm39) |
missense |
unknown |
|
|
IGL02583:Col7a1
|
APN |
9 |
108,791,297 (GRCm39) |
missense |
unknown |
|
|
IGL02728:Col7a1
|
APN |
9 |
108,813,172 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03003:Col7a1
|
APN |
9 |
108,804,024 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03096:Col7a1
|
APN |
9 |
108,784,856 (GRCm39) |
missense |
unknown |
|
|
IGL03122:Col7a1
|
APN |
9 |
108,790,751 (GRCm39) |
missense |
unknown |
|
|
IGL03212:Col7a1
|
APN |
9 |
108,803,520 (GRCm39) |
missense |
unknown |
|
|
IGL03240:Col7a1
|
APN |
9 |
108,797,441 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03355:Col7a1
|
APN |
9 |
108,807,228 (GRCm39) |
missense |
unknown |
|
|
olivetti
|
UTSW |
9 |
108,799,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
smallified
|
UTSW |
9 |
108,801,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
underwood
|
UTSW |
9 |
108,797,943 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4131001:Col7a1
|
UTSW |
9 |
108,794,989 (GRCm39) |
splice site |
probably benign |
|
|
R0007:Col7a1
|
UTSW |
9 |
108,790,471 (GRCm39) |
missense |
unknown |
|
|
R0007:Col7a1
|
UTSW |
9 |
108,790,471 (GRCm39) |
missense |
unknown |
|
|
R0078:Col7a1
|
UTSW |
9 |
108,803,981 (GRCm39) |
splice site |
probably benign |
|
|
R0091:Col7a1
|
UTSW |
9 |
108,796,574 (GRCm39) |
splice site |
probably benign |
|
|
R0126:Col7a1
|
UTSW |
9 |
108,798,651 (GRCm39) |
splice site |
probably benign |
|
|
R0244:Col7a1
|
UTSW |
9 |
108,801,252 (GRCm39) |
splice site |
probably null |
|
|
R0331:Col7a1
|
UTSW |
9 |
108,796,570 (GRCm39) |
splice site |
probably benign |
|
|
R0375:Col7a1
|
UTSW |
9 |
108,809,305 (GRCm39) |
missense |
unknown |
|
|
R0601:Col7a1
|
UTSW |
9 |
108,809,652 (GRCm39) |
splice site |
probably benign |
|
|
R0609:Col7a1
|
UTSW |
9 |
108,787,215 (GRCm39) |
missense |
unknown |
|
|
R0709:Col7a1
|
UTSW |
9 |
108,790,616 (GRCm39) |
splice site |
probably benign |
|
|
R0879:Col7a1
|
UTSW |
9 |
108,805,159 (GRCm39) |
splice site |
probably benign |
|
|
R1175:Col7a1
|
UTSW |
9 |
108,784,402 (GRCm39) |
missense |
unknown |
|
|
R1177:Col7a1
|
UTSW |
9 |
108,791,509 (GRCm39) |
missense |
unknown |
|
|
R1435:Col7a1
|
UTSW |
9 |
108,792,341 (GRCm39) |
missense |
unknown |
|
|
R1497:Col7a1
|
UTSW |
9 |
108,807,893 (GRCm39) |
missense |
unknown |
|
|
R1549:Col7a1
|
UTSW |
9 |
108,785,034 (GRCm39) |
missense |
unknown |
|
|
R1794:Col7a1
|
UTSW |
9 |
108,794,996 (GRCm39) |
missense |
unknown |
|
|
R1801:Col7a1
|
UTSW |
9 |
108,790,065 (GRCm39) |
missense |
unknown |
|
|
R1848:Col7a1
|
UTSW |
9 |
108,798,633 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1899:Col7a1
|
UTSW |
9 |
108,807,956 (GRCm39) |
missense |
unknown |
|
|
R1944:Col7a1
|
UTSW |
9 |
108,789,078 (GRCm39) |
missense |
unknown |
|
|
R1945:Col7a1
|
UTSW |
9 |
108,789,078 (GRCm39) |
missense |
unknown |
|
|
R1955:Col7a1
|
UTSW |
9 |
108,784,732 (GRCm39) |
missense |
unknown |
|
|
R2009:Col7a1
|
UTSW |
9 |
108,797,943 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2034:Col7a1
|
UTSW |
9 |
108,792,075 (GRCm39) |
missense |
unknown |
|
|
R3148:Col7a1
|
UTSW |
9 |
108,790,473 (GRCm39) |
missense |
unknown |
|
|
R3713:Col7a1
|
UTSW |
9 |
108,793,508 (GRCm39) |
nonsense |
probably null |
|
|
R4078:Col7a1
|
UTSW |
9 |
108,790,059 (GRCm39) |
missense |
unknown |
|
|
R4193:Col7a1
|
UTSW |
9 |
108,785,740 (GRCm39) |
missense |
unknown |
|
|
R4232:Col7a1
|
UTSW |
9 |
108,801,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4528:Col7a1
|
UTSW |
9 |
108,788,601 (GRCm39) |
missense |
unknown |
|
|
R4771:Col7a1
|
UTSW |
9 |
108,800,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4820:Col7a1
|
UTSW |
9 |
108,797,675 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4896:Col7a1
|
UTSW |
9 |
108,786,345 (GRCm39) |
missense |
unknown |
|
|
R4915:Col7a1
|
UTSW |
9 |
108,795,532 (GRCm39) |
missense |
unknown |
|
|
R4917:Col7a1
|
UTSW |
9 |
108,795,532 (GRCm39) |
missense |
unknown |
|
|
R5001:Col7a1
|
UTSW |
9 |
108,794,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5352:Col7a1
|
UTSW |
9 |
108,790,479 (GRCm39) |
missense |
unknown |
|
|
R5361:Col7a1
|
UTSW |
9 |
108,792,292 (GRCm39) |
missense |
unknown |
|
|
R5730:Col7a1
|
UTSW |
9 |
108,801,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5838:Col7a1
|
UTSW |
9 |
108,807,211 (GRCm39) |
missense |
unknown |
|
|
R5842:Col7a1
|
UTSW |
9 |
108,794,883 (GRCm39) |
missense |
unknown |
|
|
R5932:Col7a1
|
UTSW |
9 |
108,809,279 (GRCm39) |
missense |
unknown |
|
|
R6091:Col7a1
|
UTSW |
9 |
108,784,402 (GRCm39) |
missense |
unknown |
|
|
R6144:Col7a1
|
UTSW |
9 |
108,803,148 (GRCm39) |
missense |
unknown |
|
|
R6158:Col7a1
|
UTSW |
9 |
108,793,671 (GRCm39) |
missense |
unknown |
|
|
R6170:Col7a1
|
UTSW |
9 |
108,795,511 (GRCm39) |
missense |
unknown |
|
|
R6247:Col7a1
|
UTSW |
9 |
108,810,130 (GRCm39) |
unclassified |
probably benign |
|
|
R6338:Col7a1
|
UTSW |
9 |
108,785,701 (GRCm39) |
missense |
unknown |
|
|
R6339:Col7a1
|
UTSW |
9 |
108,785,701 (GRCm39) |
missense |
unknown |
|
|
R6382:Col7a1
|
UTSW |
9 |
108,804,461 (GRCm39) |
missense |
unknown |
|
|
R6518:Col7a1
|
UTSW |
9 |
108,784,595 (GRCm39) |
missense |
unknown |
|
|
R6533:Col7a1
|
UTSW |
9 |
108,790,426 (GRCm39) |
missense |
unknown |
|
|
R6569:Col7a1
|
UTSW |
9 |
108,807,178 (GRCm39) |
splice site |
probably null |
|
|
R6596:Col7a1
|
UTSW |
9 |
108,783,409 (GRCm39) |
unclassified |
probably benign |
|
|
R6697:Col7a1
|
UTSW |
9 |
108,799,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Col7a1
|
UTSW |
9 |
108,787,196 (GRCm39) |
missense |
unknown |
|
|
R6849:Col7a1
|
UTSW |
9 |
108,804,121 (GRCm39) |
missense |
unknown |
|
|
R6915:Col7a1
|
UTSW |
9 |
108,796,686 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6974:Col7a1
|
UTSW |
9 |
108,798,494 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6991:Col7a1
|
UTSW |
9 |
108,812,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7028:Col7a1
|
UTSW |
9 |
108,792,331 (GRCm39) |
nonsense |
probably null |
|
|
R7556:Col7a1
|
UTSW |
9 |
108,811,533 (GRCm39) |
splice site |
probably null |
|
|
R7571:Col7a1
|
UTSW |
9 |
108,811,775 (GRCm39) |
missense |
probably null |
|
|
R7815:Col7a1
|
UTSW |
9 |
108,798,633 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7875:Col7a1
|
UTSW |
9 |
108,787,763 (GRCm39) |
missense |
unknown |
|
|
R7931:Col7a1
|
UTSW |
9 |
108,809,590 (GRCm39) |
splice site |
probably benign |
|
|
R8016:Col7a1
|
UTSW |
9 |
108,787,712 (GRCm39) |
missense |
unknown |
|
|
R8038:Col7a1
|
UTSW |
9 |
108,786,360 (GRCm39) |
missense |
unknown |
|
|
R8049:Col7a1
|
UTSW |
9 |
108,804,631 (GRCm39) |
missense |
unknown |
|
|
R8098:Col7a1
|
UTSW |
9 |
108,785,763 (GRCm39) |
missense |
unknown |
|
|
R8103:Col7a1
|
UTSW |
9 |
108,804,452 (GRCm39) |
missense |
unknown |
|
|
R8128:Col7a1
|
UTSW |
9 |
108,784,789 (GRCm39) |
missense |
unknown |
|
|
R8268:Col7a1
|
UTSW |
9 |
108,802,057 (GRCm39) |
missense |
unknown |
|
|
R8274:Col7a1
|
UTSW |
9 |
108,799,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8318:Col7a1
|
UTSW |
9 |
108,787,442 (GRCm39) |
missense |
unknown |
|
|
R8751:Col7a1
|
UTSW |
9 |
108,796,730 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8824:Col7a1
|
UTSW |
9 |
108,796,093 (GRCm39) |
missense |
unknown |
|
|
R9148:Col7a1
|
UTSW |
9 |
108,789,274 (GRCm39) |
missense |
unknown |
|
|
R9170:Col7a1
|
UTSW |
9 |
108,785,707 (GRCm39) |
missense |
unknown |
|
|
R9171:Col7a1
|
UTSW |
9 |
108,807,953 (GRCm39) |
missense |
unknown |
|
|
R9236:Col7a1
|
UTSW |
9 |
108,789,684 (GRCm39) |
missense |
unknown |
|
|
R9287:Col7a1
|
UTSW |
9 |
108,787,457 (GRCm39) |
missense |
unknown |
|
|
R9378:Col7a1
|
UTSW |
9 |
108,787,708 (GRCm39) |
nonsense |
probably null |
|
|
R9443:Col7a1
|
UTSW |
9 |
108,785,059 (GRCm39) |
missense |
unknown |
|
|
R9486:Col7a1
|
UTSW |
9 |
108,811,396 (GRCm39) |
missense |
unknown |
|
|
R9537:Col7a1
|
UTSW |
9 |
108,784,420 (GRCm39) |
nonsense |
probably null |
|
|
R9559:Col7a1
|
UTSW |
9 |
108,786,360 (GRCm39) |
missense |
unknown |
|
|
R9563:Col7a1
|
UTSW |
9 |
108,791,809 (GRCm39) |
missense |
unknown |
|
|
R9565:Col7a1
|
UTSW |
9 |
108,791,809 (GRCm39) |
missense |
unknown |
|
|
R9578:Col7a1
|
UTSW |
9 |
108,789,350 (GRCm39) |
missense |
unknown |
|
|
R9664:Col7a1
|
UTSW |
9 |
108,812,649 (GRCm39) |
missense |
unknown |
|
|
RF008:Col7a1
|
UTSW |
9 |
108,793,547 (GRCm39) |
missense |
unknown |
|
|
X0023:Col7a1
|
UTSW |
9 |
108,813,253 (GRCm39) |
unclassified |
probably benign |
|
|
Z1088:Col7a1
|
UTSW |
9 |
108,807,568 (GRCm39) |
splice site |
silent |
|
|
Z1177:Col7a1
|
UTSW |
9 |
108,803,991 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col7a1
|
UTSW |
9 |
108,813,145 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col7a1
|
UTSW |
9 |
108,805,119 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGGGTTTGCCACTGTC -3'
(R):5'- TGACCCCTATGAAAGAGCAGTG -3'
Sequencing Primer
(F):5'- GGGTTTGCCACTGTCCTGAC -3'
(R):5'- CAGTGTGAGGAATCAAGTCTCTCC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation