Incidental Mutation 'R9653:Col3a1'
| ID |
727154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col3a1
|
| Ensembl Gene |
ENSMUSG00000026043 |
| Gene Name |
collagen, type III, alpha 1 |
| Synonyms |
Tsk-2, Tsk2, Col3a-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.790)
|
| Stock # |
R9653 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
45350698-45388866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45360728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 53
(I53V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087883]
|
| AlphaFold |
P08121 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000087883
AA Change: I53V
|
| SMART Domains |
Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043
AA Change: I53V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
VWC
|
33 |
89 |
2.73e-20 |
SMART |
|
low complexity region
|
100 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
248 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
249 |
284 |
3.45e-13 |
PROSPERO |
|
internal_repeat_1
|
250 |
290 |
1.9e-17 |
PROSPERO |
|
Pfam:Collagen
|
293 |
366 |
7.3e-9 |
PFAM |
|
low complexity region
|
368 |
419 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
423 |
476 |
2.52e-11 |
PROSPERO |
|
internal_repeat_1
|
427 |
488 |
1.9e-17 |
PROSPERO |
|
internal_repeat_3
|
427 |
491 |
7.39e-12 |
PROSPERO |
|
internal_repeat_2
|
456 |
491 |
3.45e-13 |
PROSPERO |
|
Pfam:Collagen
|
533 |
592 |
2.6e-11 |
PFAM |
|
low complexity region
|
632 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
815 |
N/A |
INTRINSIC |
|
low complexity region
|
818 |
855 |
N/A |
INTRINSIC |
|
low complexity region
|
865 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
953 |
974 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
975 |
1028 |
2.52e-11 |
PROSPERO |
|
internal_repeat_3
|
976 |
1029 |
7.39e-12 |
PROSPERO |
|
internal_repeat_5
|
977 |
991 |
3.33e-5 |
PROSPERO |
|
internal_repeat_5
|
1019 |
1033 |
3.33e-5 |
PROSPERO |
|
low complexity region
|
1037 |
1058 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1076 |
1135 |
5.6e-13 |
PFAM |
|
Pfam:Collagen
|
1136 |
1209 |
4.3e-11 |
PFAM |
|
COLFI
|
1229 |
1464 |
5.73e-166 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the alpha-1 subunit of the fibril-forming type III collagen found in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue. The encoded protein forms homotrimeric type III procollagen that undergoes proteolytic processing during fibril formation. A majority of mice lacking the encoded protein die within two days of birth but about 5% of the animals survive to adulthood. The surviving mice exhibit severe cortical malformation and experience significantly shorter lifespan. The mutant mouse named "tight skin 2" exhibiting systemic sclerosis phenotype was found to harbor a missense point mutation in this gene. A pseudogene of this gene has been defined on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,243,741 (GRCm39) |
P1868L |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,214,257 (GRCm39) |
Y191H |
probably damaging |
Het |
| Adamtsl5 |
C |
T |
10: 80,180,763 (GRCm39) |
G100R |
probably damaging |
Het |
| Adgrg5 |
C |
T |
8: 95,663,864 (GRCm39) |
P235S |
|
Het |
| Anks1b |
T |
G |
10: 90,346,524 (GRCm39) |
L608R |
probably damaging |
Het |
| Ano10 |
C |
G |
9: 122,080,221 (GRCm39) |
A597P |
possibly damaging |
Het |
| Calb2 |
T |
C |
8: 110,881,374 (GRCm39) |
M58V |
probably benign |
Het |
| Ccdc180 |
T |
C |
4: 45,923,495 (GRCm39) |
I1092T |
probably damaging |
Het |
| Ces3b |
G |
T |
8: 105,812,257 (GRCm39) |
A169S |
probably damaging |
Het |
| Chmp2a |
A |
T |
7: 12,766,456 (GRCm39) |
F129I |
probably damaging |
Het |
| Clasp2 |
T |
A |
9: 113,670,993 (GRCm39) |
W365R |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,584,556 (GRCm39) |
K1344R |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,335,259 (GRCm39) |
Y309C |
probably damaging |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Crygs |
T |
A |
16: 22,625,304 (GRCm39) |
T46S |
probably benign |
Het |
| Ctbp2 |
C |
G |
7: 132,615,933 (GRCm39) |
R334P |
probably damaging |
Het |
| Dcstamp |
A |
T |
15: 39,623,792 (GRCm39) |
D469V |
probably benign |
Het |
| Dhdh |
T |
C |
7: 45,128,551 (GRCm39) |
D209G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,252,544 (GRCm39) |
V1742A |
possibly damaging |
Het |
| Dnaja2 |
T |
C |
8: 86,265,982 (GRCm39) |
T368A |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,643,466 (GRCm39) |
|
probably null |
Het |
| Eps8l1 |
A |
T |
7: 4,481,886 (GRCm39) |
K704M |
unknown |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fgd4 |
T |
A |
16: 16,254,461 (GRCm39) |
H524L |
probably benign |
Het |
| Fktn |
T |
A |
4: 53,731,273 (GRCm39) |
F103I |
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,110,822 (GRCm39) |
M1001T |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,582 (GRCm39) |
S205G |
possibly damaging |
Het |
| Grid2 |
A |
T |
6: 63,907,968 (GRCm39) |
N203Y |
possibly damaging |
Het |
| Hif3a |
G |
A |
7: 16,782,641 (GRCm39) |
A308V |
probably damaging |
Het |
| Htr5a |
A |
G |
5: 28,047,838 (GRCm39) |
N131S |
possibly damaging |
Het |
| Igfn1 |
G |
A |
1: 135,883,323 (GRCm39) |
Q2728* |
probably null |
Het |
| Ighv5-16 |
C |
A |
12: 113,802,313 (GRCm39) |
K62N |
possibly damaging |
Het |
| Ip6k3 |
A |
T |
17: 27,367,588 (GRCm39) |
Y203N |
possibly damaging |
Het |
| Itga2 |
G |
A |
13: 115,020,991 (GRCm39) |
P120L |
probably benign |
Het |
| Itpkb |
G |
T |
1: 180,160,056 (GRCm39) |
E61* |
probably null |
Het |
| Kcnj3 |
G |
A |
2: 55,484,864 (GRCm39) |
V321M |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,507,819 (GRCm39) |
L3206P |
probably damaging |
Het |
| Krtap5-4 |
T |
C |
7: 141,857,908 (GRCm39) |
C193R |
unknown |
Het |
| Large1 |
G |
T |
8: 73,564,106 (GRCm39) |
H553Q |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,890,418 (GRCm39) |
V569D |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,702,580 (GRCm39) |
T48A |
probably damaging |
Het |
| Lypd6 |
A |
T |
2: 50,080,758 (GRCm39) |
T149S |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,890,296 (GRCm39) |
N1301S |
possibly damaging |
Het |
| Ndufv2 |
C |
T |
17: 66,396,251 (GRCm39) |
W91* |
probably null |
Het |
| Nisch |
A |
T |
14: 30,893,628 (GRCm39) |
V1315E |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,190,146 (GRCm39) |
I467V |
probably benign |
Het |
| Nucb1 |
A |
G |
7: 45,144,202 (GRCm39) |
M337T |
probably benign |
Het |
| Oog3 |
T |
G |
4: 143,884,489 (GRCm39) |
R482S |
probably benign |
Het |
| Or10d4b |
T |
C |
9: 39,535,154 (GRCm39) |
L243P |
probably damaging |
Het |
| Or4f14c |
A |
T |
2: 111,941,261 (GRCm39) |
M112K |
probably damaging |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,775,985 (GRCm39) |
N164K |
probably benign |
Het |
| Padi2 |
T |
C |
4: 140,662,036 (GRCm39) |
|
probably null |
Het |
| Pam |
C |
T |
1: 97,768,469 (GRCm39) |
V660M |
possibly damaging |
Het |
| Phc2 |
C |
T |
4: 128,641,012 (GRCm39) |
L700F |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,479,494 (GRCm39) |
V4A |
possibly damaging |
Het |
| Rai1 |
A |
G |
11: 60,080,142 (GRCm39) |
E1402G |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,788,032 (GRCm39) |
A429V |
probably benign |
Het |
| Rere |
A |
G |
4: 150,516,010 (GRCm39) |
N101S |
probably benign |
Het |
| Robo1 |
T |
G |
16: 72,821,330 (GRCm39) |
S1357A |
possibly damaging |
Het |
| Rsl1 |
T |
A |
13: 67,330,106 (GRCm39) |
Y185N |
probably damaging |
Het |
| Rsph3a |
T |
C |
17: 8,165,074 (GRCm39) |
S145P |
possibly damaging |
Het |
| Sall1 |
T |
C |
8: 89,757,506 (GRCm39) |
E866G |
probably damaging |
Het |
| Sall3 |
A |
T |
18: 81,016,228 (GRCm39) |
S567T |
probably benign |
Het |
| Sap30 |
G |
A |
8: 57,938,156 (GRCm39) |
Q154* |
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,937,947 (GRCm39) |
E1772G |
probably damaging |
Het |
| Scube3 |
C |
T |
17: 28,375,772 (GRCm39) |
A169V |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,080,525 (GRCm39) |
S940P |
probably benign |
Het |
| Sertad4 |
C |
T |
1: 192,528,836 (GRCm39) |
D327N |
probably damaging |
Het |
| Shisal2b |
A |
G |
13: 105,000,296 (GRCm39) |
|
probably benign |
Het |
| Skp1 |
A |
G |
11: 52,134,514 (GRCm39) |
T82A |
possibly damaging |
Het |
| Slc39a14 |
G |
T |
14: 70,547,248 (GRCm39) |
T366K |
probably damaging |
Het |
| Snrnp200 |
G |
T |
2: 127,067,959 (GRCm39) |
V819L |
probably damaging |
Het |
| Sntg1 |
T |
A |
1: 8,433,749 (GRCm39) |
T501S |
unknown |
Het |
| Srsf12 |
T |
C |
4: 33,231,249 (GRCm39) |
S253P |
possibly damaging |
Het |
| Sycp2l |
A |
G |
13: 41,295,381 (GRCm39) |
S315G |
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,655,379 (GRCm39) |
Y337C |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,898,022 (GRCm39) |
D599G |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,149,181 (GRCm39) |
H588R |
probably benign |
Het |
| Tmem255b |
T |
A |
8: 13,506,005 (GRCm39) |
V204E |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,204,564 (GRCm39) |
M261K |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,497,123 (GRCm39) |
I2429F |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,539,189 (GRCm39) |
A1943T |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,261,694 (GRCm39) |
D214E |
probably damaging |
Het |
| Wdr81 |
G |
T |
11: 75,340,213 (GRCm39) |
P183T |
|
Het |
| Zfp28 |
G |
A |
7: 6,395,623 (GRCm39) |
R134H |
|
Het |
| Zfp532 |
T |
A |
18: 65,756,308 (GRCm39) |
D80E |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,334,418 (GRCm39) |
D200G |
probably benign |
Het |
|
| Other mutations in Col3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Col3a1
|
APN |
1 |
45,386,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00928:Col3a1
|
APN |
1 |
45,380,018 (GRCm39) |
intron |
probably benign |
|
|
IGL00958:Col3a1
|
APN |
1 |
45,366,755 (GRCm39) |
missense |
unknown |
|
|
IGL01353:Col3a1
|
APN |
1 |
45,372,798 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01820:Col3a1
|
APN |
1 |
45,360,768 (GRCm39) |
missense |
unknown |
|
|
IGL01839:Col3a1
|
APN |
1 |
45,350,990 (GRCm39) |
missense |
unknown |
|
|
IGL02517:Col3a1
|
APN |
1 |
45,364,963 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02879:Col3a1
|
APN |
1 |
45,380,119 (GRCm39) |
intron |
probably benign |
|
|
IGL02960:Col3a1
|
APN |
1 |
45,367,615 (GRCm39) |
missense |
unknown |
|
|
IGL03245:Col3a1
|
APN |
1 |
45,370,269 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03308:Col3a1
|
APN |
1 |
45,369,777 (GRCm39) |
splice site |
probably benign |
|
|
Creation
|
UTSW |
1 |
45,385,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Kraken
|
UTSW |
1 |
45,367,026 (GRCm39) |
splice site |
probably null |
|
|
Wealth
|
UTSW |
1 |
45,379,472 (GRCm39) |
splice site |
probably benign |
|
|
IGL03050:Col3a1
|
UTSW |
1 |
45,368,085 (GRCm39) |
splice site |
probably null |
|
|
PIT4520001:Col3a1
|
UTSW |
1 |
45,374,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0063:Col3a1
|
UTSW |
1 |
45,369,701 (GRCm39) |
splice site |
probably benign |
|
|
R0122:Col3a1
|
UTSW |
1 |
45,380,057 (GRCm39) |
intron |
probably benign |
|
|
R0131:Col3a1
|
UTSW |
1 |
45,368,028 (GRCm39) |
splice site |
probably benign |
|
|
R0762:Col3a1
|
UTSW |
1 |
45,360,686 (GRCm39) |
missense |
unknown |
|
|
R0765:Col3a1
|
UTSW |
1 |
45,375,811 (GRCm39) |
unclassified |
probably benign |
|
|
R0853:Col3a1
|
UTSW |
1 |
45,382,484 (GRCm39) |
intron |
probably benign |
|
|
R0898:Col3a1
|
UTSW |
1 |
45,373,153 (GRCm39) |
unclassified |
probably benign |
|
|
R1170:Col3a1
|
UTSW |
1 |
45,386,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Col3a1
|
UTSW |
1 |
45,366,761 (GRCm39) |
missense |
unknown |
|
|
R1440:Col3a1
|
UTSW |
1 |
45,382,472 (GRCm39) |
splice site |
probably null |
|
|
R1449:Col3a1
|
UTSW |
1 |
45,360,771 (GRCm39) |
missense |
unknown |
|
|
R1526:Col3a1
|
UTSW |
1 |
45,360,848 (GRCm39) |
missense |
unknown |
|
|
R1572:Col3a1
|
UTSW |
1 |
45,385,128 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1585:Col3a1
|
UTSW |
1 |
45,367,026 (GRCm39) |
splice site |
probably null |
|
|
R1616:Col3a1
|
UTSW |
1 |
45,367,648 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1691:Col3a1
|
UTSW |
1 |
45,387,776 (GRCm39) |
unclassified |
probably benign |
|
|
R1876:Col3a1
|
UTSW |
1 |
45,381,395 (GRCm39) |
splice site |
probably null |
|
|
R1937:Col3a1
|
UTSW |
1 |
45,373,453 (GRCm39) |
unclassified |
probably benign |
|
|
R2093:Col3a1
|
UTSW |
1 |
45,372,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2110:Col3a1
|
UTSW |
1 |
45,369,305 (GRCm39) |
missense |
unknown |
|
|
R2119:Col3a1
|
UTSW |
1 |
45,385,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Col3a1
|
UTSW |
1 |
45,360,792 (GRCm39) |
missense |
unknown |
|
|
R2327:Col3a1
|
UTSW |
1 |
45,377,771 (GRCm39) |
unclassified |
probably benign |
|
|
R2518:Col3a1
|
UTSW |
1 |
45,376,672 (GRCm39) |
unclassified |
probably benign |
|
|
R2991:Col3a1
|
UTSW |
1 |
45,374,939 (GRCm39) |
unclassified |
probably benign |
|
|
R3405:Col3a1
|
UTSW |
1 |
45,377,913 (GRCm39) |
unclassified |
probably benign |
|
|
R3784:Col3a1
|
UTSW |
1 |
45,386,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Col3a1
|
UTSW |
1 |
45,361,150 (GRCm39) |
missense |
unknown |
|
|
R3848:Col3a1
|
UTSW |
1 |
45,361,150 (GRCm39) |
missense |
unknown |
|
|
R3849:Col3a1
|
UTSW |
1 |
45,361,150 (GRCm39) |
missense |
unknown |
|
|
R4502:Col3a1
|
UTSW |
1 |
45,387,837 (GRCm39) |
unclassified |
probably benign |
|
|
R4503:Col3a1
|
UTSW |
1 |
45,387,837 (GRCm39) |
unclassified |
probably benign |
|
|
R4764:Col3a1
|
UTSW |
1 |
45,385,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Col3a1
|
UTSW |
1 |
45,362,963 (GRCm39) |
splice site |
probably null |
|
|
R4934:Col3a1
|
UTSW |
1 |
45,379,112 (GRCm39) |
unclassified |
probably benign |
|
|
R5033:Col3a1
|
UTSW |
1 |
45,385,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Col3a1
|
UTSW |
1 |
45,372,756 (GRCm39) |
unclassified |
probably benign |
|
|
R5190:Col3a1
|
UTSW |
1 |
45,383,967 (GRCm39) |
intron |
probably benign |
|
|
R5190:Col3a1
|
UTSW |
1 |
45,368,244 (GRCm39) |
missense |
unknown |
|
|
R5375:Col3a1
|
UTSW |
1 |
45,387,059 (GRCm39) |
splice site |
probably null |
|
|
R5407:Col3a1
|
UTSW |
1 |
45,385,212 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5627:Col3a1
|
UTSW |
1 |
45,370,720 (GRCm39) |
unclassified |
probably benign |
|
|
R5642:Col3a1
|
UTSW |
1 |
45,370,872 (GRCm39) |
unclassified |
probably benign |
|
|
R6014:Col3a1
|
UTSW |
1 |
45,360,739 (GRCm39) |
nonsense |
probably null |
|
|
R6052:Col3a1
|
UTSW |
1 |
45,384,173 (GRCm39) |
unclassified |
probably benign |
|
|
R6263:Col3a1
|
UTSW |
1 |
45,360,735 (GRCm39) |
missense |
unknown |
|
|
R6453:Col3a1
|
UTSW |
1 |
45,378,538 (GRCm39) |
unclassified |
probably benign |
|
|
R6463:Col3a1
|
UTSW |
1 |
45,381,365 (GRCm39) |
intron |
probably benign |
|
|
R6488:Col3a1
|
UTSW |
1 |
45,370,694 (GRCm39) |
unclassified |
probably benign |
|
|
R6525:Col3a1
|
UTSW |
1 |
45,386,339 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6637:Col3a1
|
UTSW |
1 |
45,386,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6704:Col3a1
|
UTSW |
1 |
45,386,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6744:Col3a1
|
UTSW |
1 |
45,377,782 (GRCm39) |
unclassified |
probably benign |
|
|
R6745:Col3a1
|
UTSW |
1 |
45,377,782 (GRCm39) |
unclassified |
probably benign |
|
|
R6747:Col3a1
|
UTSW |
1 |
45,377,782 (GRCm39) |
unclassified |
probably benign |
|
|
R6858:Col3a1
|
UTSW |
1 |
45,385,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6903:Col3a1
|
UTSW |
1 |
45,371,148 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7189:Col3a1
|
UTSW |
1 |
45,372,817 (GRCm39) |
missense |
unknown |
|
|
R7194:Col3a1
|
UTSW |
1 |
45,370,860 (GRCm39) |
missense |
unknown |
|
|
R7199:Col3a1
|
UTSW |
1 |
45,371,301 (GRCm39) |
missense |
probably null |
0.99 |
|
R7204:Col3a1
|
UTSW |
1 |
45,361,578 (GRCm39) |
missense |
unknown |
|
|
R7304:Col3a1
|
UTSW |
1 |
45,386,971 (GRCm39) |
missense |
unknown |
|
|
R7378:Col3a1
|
UTSW |
1 |
45,366,807 (GRCm39) |
splice site |
probably null |
|
|
R7398:Col3a1
|
UTSW |
1 |
45,366,973 (GRCm39) |
missense |
unknown |
|
|
R7742:Col3a1
|
UTSW |
1 |
45,384,161 (GRCm39) |
missense |
unknown |
|
|
R8072:Col3a1
|
UTSW |
1 |
45,360,734 (GRCm39) |
missense |
unknown |
|
|
R8177:Col3a1
|
UTSW |
1 |
45,374,924 (GRCm39) |
missense |
unknown |
|
|
R8183:Col3a1
|
UTSW |
1 |
45,373,970 (GRCm39) |
missense |
unknown |
|
|
R8445:Col3a1
|
UTSW |
1 |
45,380,340 (GRCm39) |
nonsense |
probably null |
|
|
R8490:Col3a1
|
UTSW |
1 |
45,385,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8546:Col3a1
|
UTSW |
1 |
45,380,099 (GRCm39) |
intron |
probably benign |
|
|
R8720:Col3a1
|
UTSW |
1 |
45,386,893 (GRCm39) |
missense |
unknown |
|
|
R8733:Col3a1
|
UTSW |
1 |
45,379,472 (GRCm39) |
splice site |
probably benign |
|
|
R8888:Col3a1
|
UTSW |
1 |
45,379,139 (GRCm39) |
missense |
unknown |
|
|
R9227:Col3a1
|
UTSW |
1 |
45,383,138 (GRCm39) |
missense |
unknown |
|
|
R9230:Col3a1
|
UTSW |
1 |
45,383,138 (GRCm39) |
missense |
unknown |
|
|
R9302:Col3a1
|
UTSW |
1 |
45,350,980 (GRCm39) |
nonsense |
probably null |
|
|
R9366:Col3a1
|
UTSW |
1 |
45,380,391 (GRCm39) |
missense |
unknown |
|
|
R9677:Col3a1
|
UTSW |
1 |
45,369,727 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col3a1
|
UTSW |
1 |
45,350,960 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTGTTCATTTCCAGCTGC -3'
(R):5'- GCATTTCTTTCAGACCTCTATGCAG -3'
Sequencing Primer
(F):5'- ACTGTTCATTTCCAGCTGCATAAG -3'
(R):5'- GTGGGCATATTGCACAAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation