Incidental Mutation 'PIT4131001:Col6a5'
| ID |
523225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col6a5
|
| Ensembl Gene |
ENSMUSG00000091345 |
| Gene Name |
collagen, type VI, alpha 5 |
| Synonyms |
Gm7455, Col6a5 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.839)
|
| Stock # |
PIT4131001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
105733277-105837842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105759113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 2031
(N2031S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165165]
[ENSMUST00000190193]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165165
AA Change: N2031S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131146
Gene: ENSMUSG00000091345
AA Change: N2031S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
VWA
|
28 |
200 |
1.8e-24 |
SMART |
|
low complexity region
|
222 |
248 |
N/A |
INTRINSIC |
|
VWA
|
266 |
439 |
2.23e-20 |
SMART |
|
VWA
|
472 |
649 |
6.84e-39 |
SMART |
|
VWA
|
658 |
834 |
1.52e-45 |
SMART |
|
VWA
|
844 |
1024 |
2.44e-44 |
SMART |
|
VWA
|
1035 |
1208 |
2.95e-20 |
SMART |
|
Pfam:Collagen
|
1425 |
1478 |
3.3e-8 |
PFAM |
|
low complexity region
|
1493 |
1508 |
N/A |
INTRINSIC |
|
low complexity region
|
1535 |
1552 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1555 |
1616 |
9.6e-10 |
PFAM |
|
low complexity region
|
1711 |
1730 |
N/A |
INTRINSIC |
|
low complexity region
|
1739 |
1757 |
N/A |
INTRINSIC |
|
VWA
|
1788 |
1964 |
1.99e-17 |
SMART |
|
VWA
|
1994 |
2173 |
5.98e-21 |
SMART |
|
VWA
|
2319 |
2513 |
4.4e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189127
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190193
AA Change: N2031S
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139398
Gene: ENSMUSG00000091345
AA Change: N2031S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
VWA
|
28 |
200 |
1.1e-26 |
SMART |
|
low complexity region
|
222 |
248 |
N/A |
INTRINSIC |
|
VWA
|
266 |
439 |
1.4e-22 |
SMART |
|
VWA
|
472 |
649 |
4.4e-41 |
SMART |
|
VWA
|
658 |
834 |
9.5e-48 |
SMART |
|
VWA
|
844 |
1024 |
1.6e-46 |
SMART |
|
VWA
|
1035 |
1208 |
1.9e-22 |
SMART |
|
Pfam:Collagen
|
1425 |
1478 |
1.2e-6 |
PFAM |
|
Pfam:Collagen
|
1457 |
1530 |
5.9e-6 |
PFAM |
|
low complexity region
|
1535 |
1552 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1555 |
1616 |
3.6e-8 |
PFAM |
|
Pfam:Collagen
|
1631 |
1691 |
8.4e-6 |
PFAM |
|
Pfam:Collagen
|
1706 |
1764 |
6.6e-6 |
PFAM |
|
VWA
|
1788 |
1964 |
1.2e-19 |
SMART |
|
VWA
|
1994 |
2173 |
3.7e-23 |
SMART |
|
VWA
|
2319 |
2513 |
2.8e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
92% (126/137) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 129 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010B08Rik |
C |
T |
2: 173,561,599 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,439,450 (GRCm39) |
H648Y |
possibly damaging |
Het |
| Ambp |
A |
G |
4: 63,062,502 (GRCm39) |
Y246H |
probably damaging |
Het |
| Amz1 |
T |
C |
5: 140,735,088 (GRCm39) |
|
probably null |
Het |
| Anks6 |
G |
A |
4: 47,027,109 (GRCm39) |
T703I |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,823,883 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
T |
A |
8: 22,484,672 (GRCm39) |
I1347F |
probably damaging |
Het |
| Atp8a1 |
C |
T |
5: 67,779,945 (GRCm39) |
W1149* |
probably null |
Het |
| Auh |
A |
G |
13: 52,995,046 (GRCm39) |
I173T |
probably damaging |
Het |
| Axin2 |
T |
C |
11: 108,814,829 (GRCm39) |
L239P |
possibly damaging |
Het |
| Bbs1 |
A |
T |
19: 4,949,287 (GRCm39) |
F257L |
possibly damaging |
Het |
| Cacna2d2 |
C |
T |
9: 107,401,867 (GRCm39) |
P774L |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,137,788 (GRCm39) |
L22P |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,579,946 (GRCm39) |
|
|
Het |
| Ccn2 |
T |
C |
10: 24,471,988 (GRCm39) |
V70A |
probably damaging |
Het |
| Cdc14a |
T |
A |
3: 116,122,310 (GRCm39) |
N219I |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,967,501 (GRCm39) |
N192K |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,312,272 (GRCm39) |
|
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,914,665 (GRCm39) |
T94A |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,794,989 (GRCm39) |
|
probably benign |
Het |
| Cyld |
T |
C |
8: 89,473,543 (GRCm39) |
S739P |
probably damaging |
Het |
| Dbr1 |
A |
G |
9: 99,466,072 (GRCm39) |
|
probably null |
Het |
| Dip2b |
T |
C |
15: 100,100,233 (GRCm39) |
L1267P |
probably damaging |
Het |
| Dolk |
A |
G |
2: 30,175,586 (GRCm39) |
M153T |
probably benign |
Het |
| Duxf1 |
C |
T |
10: 58,060,704 (GRCm39) |
E17K |
possibly damaging |
Het |
| Duxf1 |
G |
A |
10: 58,060,136 (GRCm39) |
|
probably benign |
Het |
| Duxf1 |
A |
G |
10: 58,059,276 (GRCm39) |
C493R |
probably benign |
Het |
| Duxf3 |
A |
C |
10: 58,067,498 (GRCm39) |
S27A |
probably benign |
Het |
| Eef1d |
C |
T |
15: 75,775,581 (GRCm39) |
R26H |
probably benign |
Homo |
| Efcab5 |
C |
T |
11: 77,028,517 (GRCm39) |
|
|
Het |
| Epc1 |
T |
C |
18: 6,449,246 (GRCm39) |
D467G |
probably damaging |
Het |
| Fancm |
T |
G |
12: 65,152,196 (GRCm39) |
M884R |
probably benign |
Het |
| Fbxo24 |
G |
T |
5: 137,620,164 (GRCm39) |
H15N |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,924,045 (GRCm39) |
F305L |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,567,006 (GRCm39) |
D550G |
probably damaging |
Het |
| Gcnt3 |
T |
G |
9: 69,941,326 (GRCm39) |
K414T |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,024,417 (GRCm39) |
T134S |
probably benign |
Het |
| Gm10722 |
A |
G,C |
9: 3,001,414 (GRCm39) |
|
probably benign |
Het |
| Gm10800 |
T |
C |
2: 98,497,163 (GRCm39) |
R152G |
probably benign |
Homo |
| Gm10800 |
C |
A |
2: 98,497,250 (GRCm39) |
V123F |
probably benign |
Homo |
| Gm10800 |
A |
C |
2: 98,496,893 (GRCm39) |
F220C |
probably benign |
Het |
| Gm10801 |
A |
G |
2: 98,492,648 (GRCm39) |
R23G |
probably benign |
Homo |
| Gm11168 |
C |
T |
9: 3,004,605 (GRCm39) |
P49S |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,417,330 (GRCm38) |
S66L |
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG |
T |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,795,562 (GRCm39) |
Y336H |
probably damaging |
Het |
| Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Homo |
| Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Homo |
| Igf2bp3 |
A |
C |
6: 49,094,084 (GRCm39) |
|
probably null |
Het |
| Kcnb2 |
A |
T |
1: 15,383,200 (GRCm39) |
K175N |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,102,631 (GRCm39) |
|
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,584,044 (GRCm39) |
K160E |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,360,817 (GRCm39) |
V186E |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,139,575 (GRCm39) |
T48S |
unknown |
Het |
| Liph |
T |
C |
16: 21,814,119 (GRCm39) |
M1V |
probably null |
Het |
| Mctp2 |
A |
G |
7: 71,740,005 (GRCm39) |
F795S |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,755,699 (GRCm38) |
|
probably benign |
Homo |
| Muc4 |
C |
G |
16: 32,755,676 (GRCm38) |
|
probably benign |
Homo |
| Muc4 |
T |
A |
16: 32,755,684 (GRCm38) |
|
probably benign |
Homo |
| Myo15a |
G |
T |
11: 60,373,953 (GRCm39) |
A1267S |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,386,280 (GRCm39) |
Y1802H |
probably damaging |
Het |
| Myo7b |
G |
A |
18: 32,094,259 (GRCm39) |
T1963I |
probably benign |
Het |
| Nadk2 |
TG |
T |
15: 9,100,232 (GRCm39) |
|
probably null |
Homo |
| Naip5 |
T |
C |
13: 100,356,268 (GRCm39) |
N1116D |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,356,247 (GRCm39) |
R1123G |
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,322,583 (GRCm39) |
D61G |
probably null |
Het |
| Napsa |
A |
T |
7: 44,230,875 (GRCm39) |
T81S |
probably damaging |
Het |
| Ngp |
T |
C |
9: 110,251,337 (GRCm39) |
|
probably benign |
Het |
| Nktr |
T |
A |
9: 121,570,687 (GRCm39) |
V143E |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,957,890 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
G |
A |
2: 87,082,973 (GRCm39) |
A231T |
probably benign |
Het |
| Or11i1 |
T |
C |
3: 106,729,282 (GRCm39) |
I198V |
probably benign |
Het |
| Or4f56 |
G |
A |
2: 111,703,649 (GRCm39) |
L184F |
probably benign |
Het |
| Or52ab2 |
C |
T |
7: 102,970,076 (GRCm39) |
R153* |
probably null |
Het |
| Or52d3 |
G |
A |
7: 104,229,237 (GRCm39) |
R128Q |
probably damaging |
Het |
| Or6p1 |
A |
G |
1: 174,258,390 (GRCm39) |
Y132C |
probably damaging |
Het |
| Paip2b |
A |
G |
6: 83,785,823 (GRCm39) |
Y136H |
probably damaging |
Het |
| Pde2a |
G |
T |
7: 101,160,361 (GRCm39) |
R845L |
probably damaging |
Het |
| Pgap2 |
A |
G |
7: 101,886,405 (GRCm39) |
Y197C |
possibly damaging |
Het |
| Phf11b |
A |
G |
14: 59,560,611 (GRCm39) |
|
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,269,178 (GRCm39) |
D481E |
probably benign |
Het |
| Pxk |
A |
T |
14: 8,152,130 (GRCm38) |
H482L |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,585,726 (GRCm39) |
|
probably null |
Het |
| Rbmyf1 |
T |
A |
Y: 2,787,132 (GRCm39) |
N228Y |
probably benign |
Het |
| Rbmyf5 |
T |
C |
Y: 3,297,411 (GRCm39) |
H235R |
probably benign |
Het |
| Rbmyf6 |
C |
T |
Y: 3,328,944 (GRCm39) |
A241T |
possibly damaging |
Het |
| Rnf220 |
A |
G |
4: 117,134,566 (GRCm39) |
|
probably null |
Het |
| Saxo5 |
T |
A |
8: 3,526,062 (GRCm39) |
S72T |
possibly damaging |
Het |
| Selenbp1 |
C |
T |
3: 94,844,607 (GRCm39) |
T88M |
probably damaging |
Het |
| Sft2d1 |
T |
C |
17: 8,609,863 (GRCm39) |
I104T |
possibly damaging |
Het |
| Sik1 |
A |
G |
17: 32,070,305 (GRCm39) |
S135P |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,846,172 (GRCm39) |
F34L |
probably damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,612,126 (GRCm38) |
N85S |
probably benign |
Homo |
| Snrnp27 |
T |
C |
6: 86,659,893 (GRCm39) |
R34G |
unknown |
Het |
| Sos2 |
T |
C |
12: 69,664,851 (GRCm39) |
H393R |
probably benign |
Het |
| Sp110 |
C |
T |
1: 85,513,971 (GRCm39) |
R262Q |
probably benign |
Het |
| Sp110 |
T |
C |
1: 85,513,975 (GRCm39) |
R261G |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,528,893 (GRCm39) |
Y5N |
probably benign |
Het |
| Sp140 |
A |
G |
1: 85,570,942 (GRCm39) |
S461G |
probably benign |
Het |
| Sp140 |
G |
C |
1: 85,538,603 (GRCm39) |
K113N |
probably benign |
Het |
| Sp140l1 |
G |
A |
1: 85,077,341 (GRCm39) |
A75V |
probably benign |
Het |
| Sp140l2 |
A |
C |
1: 85,223,395 (GRCm39) |
|
probably benign |
Het |
| Speer4a2 |
A |
T |
5: 26,291,485 (GRCm39) |
F107Y |
probably benign |
Het |
| Speer4a2 |
C |
G |
5: 26,294,093 (GRCm39) |
W28C |
probably damaging |
Het |
| Ssrp1 |
G |
A |
2: 84,868,760 (GRCm39) |
V40M |
probably damaging |
Het |
| Tada2a |
T |
C |
11: 83,970,563 (GRCm39) |
E202G |
probably damaging |
Het |
| Tcf20 |
C |
A |
15: 82,735,785 (GRCm39) |
A1889S |
probably damaging |
Het |
| Tdrd12 |
A |
T |
7: 35,180,528 (GRCm39) |
Y828* |
probably null |
Het |
| Tlr2 |
T |
A |
3: 83,745,756 (GRCm39) |
D109V |
probably benign |
Het |
| Tomm40 |
G |
A |
7: 19,437,016 (GRCm39) |
T17M |
probably damaging |
Het |
| Tsga10ip |
T |
C |
19: 5,440,161 (GRCm39) |
T135A |
possibly damaging |
Het |
| Tspan8 |
G |
A |
10: 115,653,515 (GRCm39) |
V4M |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,040,719 (GRCm39) |
T36S |
probably benign |
Het |
| Ugt1a6b |
G |
A |
1: 88,146,112 (GRCm39) |
R519Q |
probably damaging |
Het |
| Ugt1a6b |
TTCA |
T |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
| Ugt1a6b |
G |
A |
1: 88,143,976 (GRCm39) |
A199T |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 79,976,109 (GRCm39) |
M790T |
possibly damaging |
Het |
| Vav3 |
T |
C |
3: 109,571,751 (GRCm39) |
|
probably null |
Het |
| Vcpkmt |
G |
A |
12: 69,629,552 (GRCm39) |
S70L |
probably benign |
Het |
| Vmn1r3 |
C |
T |
4: 3,184,691 (GRCm39) |
M205I |
probably damaging |
Het |
| Vmn1r3 |
C |
T |
4: 3,184,774 (GRCm39) |
V178I |
probably benign |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,301 (GRCm39) |
Q703R |
probably damaging |
Het |
| Vmn2r98 |
G |
T |
17: 19,301,223 (GRCm39) |
V742F |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,439,696 (GRCm39) |
S229P |
possibly damaging |
Het |
| Xpo4 |
A |
T |
14: 57,822,068 (GRCm39) |
C1083S |
probably null |
Het |
| Zbtb38 |
T |
C |
9: 96,568,369 (GRCm39) |
D905G |
probably damaging |
Het |
| Zbtb8b |
A |
G |
4: 129,321,308 (GRCm39) |
*518Q |
probably null |
Het |
| Zfp600 |
TC |
T |
4: 146,131,802 (GRCm39) |
|
probably null |
Het |
| Zfp992 |
C |
T |
4: 146,550,569 (GRCm39) |
P97S |
probably benign |
Het |
|
| Other mutations in Col6a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Col6a5
|
APN |
9 |
105,759,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01462:Col6a5
|
APN |
9 |
105,823,274 (GRCm39) |
missense |
unknown |
|
|
IGL01530:Col6a5
|
APN |
9 |
105,792,385 (GRCm39) |
splice site |
probably benign |
|
|
IGL01717:Col6a5
|
APN |
9 |
105,817,472 (GRCm39) |
missense |
unknown |
|
|
IGL01859:Col6a5
|
APN |
9 |
105,808,160 (GRCm39) |
nonsense |
probably null |
|
|
IGL01945:Col6a5
|
APN |
9 |
105,805,489 (GRCm39) |
missense |
unknown |
|
|
IGL01985:Col6a5
|
APN |
9 |
105,814,482 (GRCm39) |
missense |
unknown |
|
|
IGL02128:Col6a5
|
APN |
9 |
105,817,093 (GRCm39) |
missense |
unknown |
|
|
IGL02170:Col6a5
|
APN |
9 |
105,805,621 (GRCm39) |
missense |
unknown |
|
|
IGL02224:Col6a5
|
APN |
9 |
105,741,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02246:Col6a5
|
APN |
9 |
105,788,306 (GRCm39) |
nonsense |
probably null |
|
|
IGL02304:Col6a5
|
APN |
9 |
105,805,613 (GRCm39) |
missense |
unknown |
|
|
IGL02338:Col6a5
|
APN |
9 |
105,755,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02375:Col6a5
|
APN |
9 |
105,783,312 (GRCm39) |
missense |
unknown |
|
|
IGL02660:Col6a5
|
APN |
9 |
105,814,085 (GRCm39) |
missense |
unknown |
|
|
IGL02829:Col6a5
|
APN |
9 |
105,811,506 (GRCm39) |
missense |
unknown |
|
|
IGL02882:Col6a5
|
APN |
9 |
105,811,520 (GRCm39) |
missense |
unknown |
|
|
IGL02973:Col6a5
|
APN |
9 |
105,803,020 (GRCm39) |
missense |
unknown |
|
|
IGL03089:Col6a5
|
APN |
9 |
105,811,038 (GRCm39) |
missense |
unknown |
|
|
IGL03100:Col6a5
|
APN |
9 |
105,814,512 (GRCm39) |
missense |
unknown |
|
|
IGL03257:Col6a5
|
APN |
9 |
105,759,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
FR4340:Col6a5
|
UTSW |
9 |
105,811,373 (GRCm39) |
missense |
unknown |
|
|
FR4342:Col6a5
|
UTSW |
9 |
105,811,373 (GRCm39) |
missense |
unknown |
|
|
FR4589:Col6a5
|
UTSW |
9 |
105,811,373 (GRCm39) |
missense |
unknown |
|
|
R0147:Col6a5
|
UTSW |
9 |
105,802,993 (GRCm39) |
missense |
unknown |
|
|
R0549:Col6a5
|
UTSW |
9 |
105,781,778 (GRCm39) |
splice site |
probably benign |
|
|
R0622:Col6a5
|
UTSW |
9 |
105,803,051 (GRCm39) |
missense |
unknown |
|
|
R0628:Col6a5
|
UTSW |
9 |
105,789,649 (GRCm39) |
splice site |
probably null |
|
|
R0635:Col6a5
|
UTSW |
9 |
105,805,805 (GRCm39) |
missense |
unknown |
|
|
R0644:Col6a5
|
UTSW |
9 |
105,825,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0828:Col6a5
|
UTSW |
9 |
105,739,263 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0972:Col6a5
|
UTSW |
9 |
105,817,484 (GRCm39) |
missense |
unknown |
|
|
R1065:Col6a5
|
UTSW |
9 |
105,758,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1142:Col6a5
|
UTSW |
9 |
105,811,516 (GRCm39) |
missense |
unknown |
|
|
R1169:Col6a5
|
UTSW |
9 |
105,774,173 (GRCm39) |
splice site |
probably null |
|
|
R1522:Col6a5
|
UTSW |
9 |
105,817,193 (GRCm39) |
missense |
unknown |
|
|
R1646:Col6a5
|
UTSW |
9 |
105,739,948 (GRCm39) |
nonsense |
probably null |
|
|
R1719:Col6a5
|
UTSW |
9 |
105,808,492 (GRCm39) |
missense |
unknown |
|
|
R1759:Col6a5
|
UTSW |
9 |
105,808,045 (GRCm39) |
missense |
unknown |
|
|
R1780:Col6a5
|
UTSW |
9 |
105,814,077 (GRCm39) |
missense |
unknown |
|
|
R1812:Col6a5
|
UTSW |
9 |
105,805,253 (GRCm39) |
missense |
unknown |
|
|
R1838:Col6a5
|
UTSW |
9 |
105,742,032 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1839:Col6a5
|
UTSW |
9 |
105,742,032 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1863:Col6a5
|
UTSW |
9 |
105,817,400 (GRCm39) |
missense |
unknown |
|
|
R1900:Col6a5
|
UTSW |
9 |
105,808,412 (GRCm39) |
missense |
unknown |
|
|
R1951:Col6a5
|
UTSW |
9 |
105,814,156 (GRCm39) |
missense |
unknown |
|
|
R2024:Col6a5
|
UTSW |
9 |
105,814,193 (GRCm39) |
missense |
unknown |
|
|
R2126:Col6a5
|
UTSW |
9 |
105,822,799 (GRCm39) |
missense |
unknown |
|
|
R2319:Col6a5
|
UTSW |
9 |
105,814,417 (GRCm39) |
missense |
unknown |
|
|
R2344:Col6a5
|
UTSW |
9 |
105,805,736 (GRCm39) |
missense |
unknown |
|
|
R2483:Col6a5
|
UTSW |
9 |
105,741,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Col6a5
|
UTSW |
9 |
105,788,306 (GRCm39) |
nonsense |
probably null |
|
|
R3276:Col6a5
|
UTSW |
9 |
105,788,306 (GRCm39) |
nonsense |
probably null |
|
|
R3438:Col6a5
|
UTSW |
9 |
105,752,991 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3791:Col6a5
|
UTSW |
9 |
105,741,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3840:Col6a5
|
UTSW |
9 |
105,805,810 (GRCm39) |
missense |
unknown |
|
|
R3886:Col6a5
|
UTSW |
9 |
105,808,129 (GRCm39) |
missense |
unknown |
|
|
R3941:Col6a5
|
UTSW |
9 |
105,817,033 (GRCm39) |
missense |
unknown |
|
|
R4194:Col6a5
|
UTSW |
9 |
105,823,113 (GRCm39) |
missense |
unknown |
|
|
R4399:Col6a5
|
UTSW |
9 |
105,766,164 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4421:Col6a5
|
UTSW |
9 |
105,805,672 (GRCm39) |
missense |
unknown |
|
|
R4450:Col6a5
|
UTSW |
9 |
105,781,720 (GRCm39) |
missense |
unknown |
|
|
R4491:Col6a5
|
UTSW |
9 |
105,817,211 (GRCm39) |
missense |
unknown |
|
|
R4582:Col6a5
|
UTSW |
9 |
105,739,963 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4693:Col6a5
|
UTSW |
9 |
105,814,371 (GRCm39) |
missense |
unknown |
|
|
R4787:Col6a5
|
UTSW |
9 |
105,808,280 (GRCm39) |
missense |
unknown |
|
|
R4789:Col6a5
|
UTSW |
9 |
105,814,534 (GRCm39) |
missense |
unknown |
|
|
R4791:Col6a5
|
UTSW |
9 |
105,807,983 (GRCm39) |
missense |
unknown |
|
|
R4792:Col6a5
|
UTSW |
9 |
105,807,983 (GRCm39) |
missense |
unknown |
|
|
R4817:Col6a5
|
UTSW |
9 |
105,811,497 (GRCm39) |
missense |
unknown |
|
|
R4854:Col6a5
|
UTSW |
9 |
105,775,950 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4927:Col6a5
|
UTSW |
9 |
105,811,163 (GRCm39) |
missense |
unknown |
|
|
R4969:Col6a5
|
UTSW |
9 |
105,741,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5037:Col6a5
|
UTSW |
9 |
105,805,337 (GRCm39) |
missense |
unknown |
|
|
R5118:Col6a5
|
UTSW |
9 |
105,814,204 (GRCm39) |
missense |
unknown |
|
|
R5144:Col6a5
|
UTSW |
9 |
105,766,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5145:Col6a5
|
UTSW |
9 |
105,811,444 (GRCm39) |
missense |
unknown |
|
|
R5160:Col6a5
|
UTSW |
9 |
105,808,208 (GRCm39) |
missense |
unknown |
|
|
R5182:Col6a5
|
UTSW |
9 |
105,734,531 (GRCm39) |
nonsense |
probably null |
|
|
R5234:Col6a5
|
UTSW |
9 |
105,741,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5252:Col6a5
|
UTSW |
9 |
105,817,489 (GRCm39) |
missense |
unknown |
|
|
R5290:Col6a5
|
UTSW |
9 |
105,823,282 (GRCm39) |
missense |
unknown |
|
|
R5313:Col6a5
|
UTSW |
9 |
105,822,743 (GRCm39) |
missense |
unknown |
|
|
R5321:Col6a5
|
UTSW |
9 |
105,805,664 (GRCm39) |
missense |
unknown |
|
|
R5466:Col6a5
|
UTSW |
9 |
105,808,282 (GRCm39) |
missense |
unknown |
|
|
R5540:Col6a5
|
UTSW |
9 |
105,739,975 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5669:Col6a5
|
UTSW |
9 |
105,803,197 (GRCm39) |
missense |
unknown |
|
|
R5789:Col6a5
|
UTSW |
9 |
105,741,807 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5801:Col6a5
|
UTSW |
9 |
105,825,566 (GRCm39) |
missense |
unknown |
|
|
R5827:Col6a5
|
UTSW |
9 |
105,805,319 (GRCm39) |
nonsense |
probably null |
|
|
R5839:Col6a5
|
UTSW |
9 |
105,822,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5908:Col6a5
|
UTSW |
9 |
105,740,000 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5970:Col6a5
|
UTSW |
9 |
105,823,046 (GRCm39) |
missense |
unknown |
|
|
R6045:Col6a5
|
UTSW |
9 |
105,803,117 (GRCm39) |
missense |
unknown |
|
|
R6107:Col6a5
|
UTSW |
9 |
105,769,471 (GRCm39) |
nonsense |
probably null |
|
|
R6168:Col6a5
|
UTSW |
9 |
105,752,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6315:Col6a5
|
UTSW |
9 |
105,759,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:Col6a5
|
UTSW |
9 |
105,766,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6414:Col6a5
|
UTSW |
9 |
105,769,465 (GRCm39) |
splice site |
probably null |
|
|
R6434:Col6a5
|
UTSW |
9 |
105,814,544 (GRCm39) |
missense |
unknown |
|
|
R6456:Col6a5
|
UTSW |
9 |
105,822,676 (GRCm39) |
missense |
unknown |
|
|
R6698:Col6a5
|
UTSW |
9 |
105,811,374 (GRCm39) |
missense |
unknown |
|
|
R6876:Col6a5
|
UTSW |
9 |
105,814,506 (GRCm39) |
missense |
unknown |
|
|
R6882:Col6a5
|
UTSW |
9 |
105,817,469 (GRCm39) |
nonsense |
probably null |
|
|
R6928:Col6a5
|
UTSW |
9 |
105,817,118 (GRCm39) |
missense |
unknown |
|
|
R7024:Col6a5
|
UTSW |
9 |
105,789,674 (GRCm39) |
nonsense |
probably null |
|
|
R7038:Col6a5
|
UTSW |
9 |
105,822,937 (GRCm39) |
missense |
unknown |
|
|
R7082:Col6a5
|
UTSW |
9 |
105,808,438 (GRCm39) |
missense |
unknown |
|
|
R7158:Col6a5
|
UTSW |
9 |
105,741,407 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7211:Col6a5
|
UTSW |
9 |
105,805,363 (GRCm39) |
missense |
unknown |
|
|
R7431:Col6a5
|
UTSW |
9 |
105,805,468 (GRCm39) |
missense |
unknown |
|
|
R7440:Col6a5
|
UTSW |
9 |
105,758,630 (GRCm39) |
nonsense |
probably null |
|
|
R7502:Col6a5
|
UTSW |
9 |
105,753,075 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7577:Col6a5
|
UTSW |
9 |
105,741,887 (GRCm39) |
nonsense |
probably null |
|
|
R7582:Col6a5
|
UTSW |
9 |
105,822,625 (GRCm39) |
missense |
unknown |
|
|
R7641:Col6a5
|
UTSW |
9 |
105,758,625 (GRCm39) |
nonsense |
probably null |
|
|
R7762:Col6a5
|
UTSW |
9 |
105,808,523 (GRCm39) |
missense |
unknown |
|
|
R7793:Col6a5
|
UTSW |
9 |
105,775,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7821:Col6a5
|
UTSW |
9 |
105,741,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7848:Col6a5
|
UTSW |
9 |
105,805,385 (GRCm39) |
missense |
unknown |
|
|
R7897:Col6a5
|
UTSW |
9 |
105,766,382 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7904:Col6a5
|
UTSW |
9 |
105,805,720 (GRCm39) |
missense |
unknown |
|
|
R7960:Col6a5
|
UTSW |
9 |
105,823,049 (GRCm39) |
missense |
unknown |
|
|
R8015:Col6a5
|
UTSW |
9 |
105,758,940 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8100:Col6a5
|
UTSW |
9 |
105,755,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8131:Col6a5
|
UTSW |
9 |
105,778,815 (GRCm39) |
missense |
unknown |
|
|
R8418:Col6a5
|
UTSW |
9 |
105,755,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Col6a5
|
UTSW |
9 |
105,823,156 (GRCm39) |
missense |
unknown |
|
|
R8678:Col6a5
|
UTSW |
9 |
105,811,551 (GRCm39) |
missense |
unknown |
|
|
R8690:Col6a5
|
UTSW |
9 |
105,759,796 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8847:Col6a5
|
UTSW |
9 |
105,741,472 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8946:Col6a5
|
UTSW |
9 |
105,822,833 (GRCm39) |
missense |
unknown |
|
|
R8947:Col6a5
|
UTSW |
9 |
105,822,833 (GRCm39) |
missense |
unknown |
|
|
R8949:Col6a5
|
UTSW |
9 |
105,822,833 (GRCm39) |
missense |
unknown |
|
|
R8950:Col6a5
|
UTSW |
9 |
105,822,833 (GRCm39) |
missense |
unknown |
|
|
R9089:Col6a5
|
UTSW |
9 |
105,766,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9118:Col6a5
|
UTSW |
9 |
105,755,853 (GRCm39) |
splice site |
probably benign |
|
|
R9169:Col6a5
|
UTSW |
9 |
105,822,596 (GRCm39) |
missense |
unknown |
|
|
R9177:Col6a5
|
UTSW |
9 |
105,808,152 (GRCm39) |
missense |
unknown |
|
|
R9180:Col6a5
|
UTSW |
9 |
105,739,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9205:Col6a5
|
UTSW |
9 |
105,755,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9214:Col6a5
|
UTSW |
9 |
105,758,940 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9224:Col6a5
|
UTSW |
9 |
105,814,594 (GRCm39) |
missense |
unknown |
|
|
R9279:Col6a5
|
UTSW |
9 |
105,758,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Col6a5
|
UTSW |
9 |
105,803,110 (GRCm39) |
missense |
unknown |
|
|
R9427:Col6a5
|
UTSW |
9 |
105,816,992 (GRCm39) |
missense |
unknown |
|
|
R9488:Col6a5
|
UTSW |
9 |
105,741,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Col6a5
|
UTSW |
9 |
105,822,732 (GRCm39) |
missense |
unknown |
|
|
R9659:Col6a5
|
UTSW |
9 |
105,811,034 (GRCm39) |
missense |
unknown |
|
|
R9749:Col6a5
|
UTSW |
9 |
105,739,190 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF013:Col6a5
|
UTSW |
9 |
105,755,796 (GRCm39) |
frame shift |
probably null |
|
|
X0054:Col6a5
|
UTSW |
9 |
105,792,357 (GRCm39) |
missense |
unknown |
|
|
X0058:Col6a5
|
UTSW |
9 |
105,758,977 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Col6a5
|
UTSW |
9 |
105,803,266 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col6a5
|
UTSW |
9 |
105,807,984 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCATTGAGCTGTTGAAGG -3'
(R):5'- TGGAAGCTCTCAGTGTCTTG -3'
Sequencing Primer
(F):5'- CCATTGAGCTGTTGAAGGGAAGTG -3'
(R):5'- GCTGCTGATTCCATGATGTATC -3'
|
| Posted On |
2018-06-12 |
Incidental Mutation