Incidental Mutation 'R0733:Col4a1'
| ID |
67112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col4a1
|
| Ensembl Gene |
ENSMUSG00000031502 |
| Gene Name |
collagen, type IV, alpha 1 |
| Synonyms |
Del(8)Bru44H, Del(8)44H, alpha1(IV) collagen, Col4a-1, Bru, Svc, Raw |
| MMRRC Submission |
038914-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0733 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
11248423-11362826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 11268934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 968
(R968Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033898]
[ENSMUST00000209661]
[ENSMUST00000209735]
|
| AlphaFold |
P02463 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033898
AA Change: R968Q
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502
AA Change: R968Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
49 |
89 |
2.1e-8 |
PROSPERO |
|
Pfam:Collagen
|
103 |
163 |
6.1e-11 |
PFAM |
|
Pfam:Collagen
|
167 |
225 |
7.8e-10 |
PFAM |
|
low complexity region
|
232 |
248 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
274 |
334 |
1.7e-11 |
PFAM |
|
low complexity region
|
356 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
455 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
472 |
533 |
7.3e-12 |
PFAM |
|
Pfam:Collagen
|
539 |
597 |
4.8e-9 |
PFAM |
|
low complexity region
|
600 |
636 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
642 |
689 |
4.5e-8 |
PFAM |
|
Pfam:Collagen
|
689 |
746 |
3.5e-8 |
PFAM |
|
Pfam:Collagen
|
736 |
800 |
2.2e-9 |
PFAM |
|
Pfam:Collagen
|
837 |
896 |
5.2e-11 |
PFAM |
|
Pfam:Collagen
|
882 |
940 |
1.9e-10 |
PFAM |
|
Pfam:Collagen
|
943 |
1007 |
1.7e-10 |
PFAM |
|
Pfam:Collagen
|
996 |
1058 |
2e-9 |
PFAM |
|
Pfam:Collagen
|
1057 |
1121 |
1.5e-10 |
PFAM |
|
low complexity region
|
1133 |
1148 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1174 |
1233 |
8.6e-11 |
PFAM |
|
low complexity region
|
1236 |
1266 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1269 |
1337 |
1e-8 |
PFAM |
|
Pfam:Collagen
|
1290 |
1354 |
2.2e-9 |
PFAM |
|
Pfam:Collagen
|
1384 |
1443 |
1e-10 |
PFAM |
|
C4
|
1445 |
1554 |
3.49e-65 |
SMART |
|
C4
|
1555 |
1668 |
1.53e-79 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209661
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209735
AA Change: R968Q
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.0811 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
98% (60/61) |
| MGI Phenotype |
FUNCTION: This gene encodes the alpha-1 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of two alpha-1 and one alpha-2 subunits that assembles into a type IV collagen network. This gene is located adjacent to the gene encoding alpha-2 subunit. Mice lacking both the alpha-1 and alpha-2 subunits of collagen IV die in utero due to structural deficiencies in the basement membranes and certain mutations in this gene cause perinatal cerebral hemorrhage and porencephaly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
A |
G |
2: 31,668,957 (GRCm39) |
Y88C |
probably damaging |
Het |
| Acbd3 |
A |
G |
1: 180,579,783 (GRCm39) |
I476V |
possibly damaging |
Het |
| Apba2 |
T |
C |
7: 64,399,912 (GRCm39) |
I689T |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,209,001 (GRCm39) |
Y362H |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,165,054 (GRCm39) |
F208L |
possibly damaging |
Het |
| Cdh26 |
T |
C |
2: 178,128,724 (GRCm39) |
S759P |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,582,056 (GRCm39) |
Q387R |
probably benign |
Het |
| Cobl |
C |
T |
11: 12,315,167 (GRCm39) |
G259R |
probably benign |
Het |
| Ddr2 |
A |
G |
1: 169,832,381 (GRCm39) |
|
probably benign |
Het |
| Dera |
C |
A |
6: 137,773,846 (GRCm39) |
N201K |
probably damaging |
Het |
| Dsg1a |
A |
C |
18: 20,471,725 (GRCm39) |
E659A |
probably damaging |
Het |
| Dus2 |
G |
T |
8: 106,772,702 (GRCm39) |
|
probably null |
Het |
| Ears2 |
T |
A |
7: 121,647,352 (GRCm39) |
I311F |
possibly damaging |
Het |
| Eml4 |
T |
A |
17: 83,761,893 (GRCm39) |
M417K |
possibly damaging |
Het |
| Exosc4 |
A |
T |
15: 76,213,616 (GRCm39) |
M147L |
probably benign |
Het |
| Fam171a2 |
T |
A |
11: 102,330,548 (GRCm39) |
Y278F |
possibly damaging |
Het |
| Fastk |
A |
C |
5: 24,648,921 (GRCm39) |
H155Q |
probably null |
Het |
| Fem1b |
G |
T |
9: 62,704,125 (GRCm39) |
N378K |
possibly damaging |
Het |
| Fut11 |
C |
A |
14: 20,745,427 (GRCm39) |
Y119* |
probably null |
Het |
| Gm6797 |
T |
C |
X: 8,511,388 (GRCm39) |
|
noncoding transcript |
Het |
| Gstt4 |
T |
C |
10: 75,653,148 (GRCm39) |
D138G |
probably benign |
Het |
| Hprt1 |
G |
A |
X: 52,091,027 (GRCm39) |
C66Y |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,595,799 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
T |
A |
X: 55,547,108 (GRCm39) |
S621T |
probably benign |
Het |
| Ints6l |
C |
G |
X: 55,550,172 (GRCm39) |
A699G |
probably benign |
Het |
| Kctd3 |
A |
G |
1: 188,729,247 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
G |
T |
5: 123,928,979 (GRCm39) |
V1252L |
probably null |
Het |
| Lama5 |
A |
T |
2: 179,822,511 (GRCm39) |
M2854K |
possibly damaging |
Het |
| Lcn5 |
G |
T |
2: 25,551,113 (GRCm39) |
L187F |
probably damaging |
Het |
| Lrp3 |
A |
T |
7: 34,901,545 (GRCm39) |
L758M |
possibly damaging |
Het |
| Ltn1 |
T |
A |
16: 87,209,395 (GRCm39) |
I740F |
probably benign |
Het |
| Mcm5 |
A |
G |
8: 75,853,876 (GRCm39) |
K710R |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,208,577 (GRCm39) |
|
probably benign |
Het |
| Nbr1 |
T |
A |
11: 101,467,197 (GRCm39) |
M864K |
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,515,758 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
A |
7: 10,116,449 (GRCm39) |
E144V |
probably benign |
Het |
| Nppc |
T |
C |
1: 86,597,356 (GRCm39) |
|
probably benign |
Het |
| Ormdl2 |
T |
A |
10: 128,655,868 (GRCm39) |
Q94L |
probably damaging |
Het |
| Paox |
G |
C |
7: 139,707,440 (GRCm39) |
D88H |
probably damaging |
Het |
| Prl7a2 |
T |
C |
13: 27,846,671 (GRCm39) |
E114G |
probably damaging |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Prss54 |
T |
C |
8: 96,286,368 (GRCm39) |
D235G |
possibly damaging |
Het |
| Rwdd3 |
T |
C |
3: 120,965,256 (GRCm39) |
M24V |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,201 (GRCm39) |
N30I |
probably benign |
Het |
| Sh3rf1 |
G |
A |
8: 61,825,594 (GRCm39) |
A530T |
probably benign |
Het |
| Slc28a1 |
T |
C |
7: 80,774,648 (GRCm39) |
I165T |
probably benign |
Het |
| Slco6d1 |
T |
A |
1: 98,355,994 (GRCm39) |
L143* |
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Snx27 |
A |
G |
3: 94,469,320 (GRCm39) |
L7P |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,013 (GRCm39) |
T1056S |
possibly damaging |
Het |
| Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,610,588 (GRCm39) |
G232S |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,216,918 (GRCm39) |
H255R |
possibly damaging |
Het |
| Tent2 |
T |
A |
13: 93,291,547 (GRCm39) |
Q365L |
probably benign |
Het |
| Ube2k |
A |
G |
5: 65,738,795 (GRCm39) |
I95V |
probably damaging |
Het |
| Ube2m |
C |
A |
7: 12,769,679 (GRCm39) |
E126D |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,169,147 (GRCm39) |
M661K |
probably benign |
Het |
| Wdr47 |
A |
T |
3: 108,525,939 (GRCm39) |
D154V |
probably damaging |
Het |
| Zfp113 |
A |
G |
5: 138,143,845 (GRCm39) |
V135A |
probably benign |
Het |
|
| Other mutations in Col4a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Col4a1
|
APN |
8 |
11,290,077 (GRCm39) |
splice site |
probably benign |
|
|
IGL00503:Col4a1
|
APN |
8 |
11,290,076 (GRCm39) |
splice site |
probably benign |
|
|
IGL00938:Col4a1
|
APN |
8 |
11,286,456 (GRCm39) |
intron |
probably benign |
|
|
IGL01295:Col4a1
|
APN |
8 |
11,286,075 (GRCm39) |
intron |
probably benign |
|
|
IGL01406:Col4a1
|
APN |
8 |
11,268,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01807:Col4a1
|
APN |
8 |
11,297,056 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01865:Col4a1
|
APN |
8 |
11,251,790 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02166:Col4a1
|
APN |
8 |
11,294,509 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02234:Col4a1
|
APN |
8 |
11,266,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02445:Col4a1
|
APN |
8 |
11,283,911 (GRCm39) |
intron |
probably benign |
|
|
IGL02719:Col4a1
|
APN |
8 |
11,281,950 (GRCm39) |
intron |
probably benign |
|
|
IGL02817:Col4a1
|
APN |
8 |
11,270,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02821:Col4a1
|
APN |
8 |
11,271,375 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02870:Col4a1
|
APN |
8 |
11,271,375 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02935:Col4a1
|
APN |
8 |
11,269,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03085:Col4a1
|
APN |
8 |
11,272,198 (GRCm39) |
nonsense |
probably null |
|
|
Wayne
|
UTSW |
8 |
11,259,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03134:Col4a1
|
UTSW |
8 |
11,290,069 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0076:Col4a1
|
UTSW |
8 |
11,268,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Col4a1
|
UTSW |
8 |
11,268,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Col4a1
|
UTSW |
8 |
11,268,780 (GRCm39) |
splice site |
probably benign |
|
|
R0239:Col4a1
|
UTSW |
8 |
11,268,780 (GRCm39) |
splice site |
probably benign |
|
|
R0268:Col4a1
|
UTSW |
8 |
11,317,588 (GRCm39) |
splice site |
probably benign |
|
|
R0320:Col4a1
|
UTSW |
8 |
11,292,782 (GRCm39) |
splice site |
probably null |
|
|
R0402:Col4a1
|
UTSW |
8 |
11,249,838 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0483:Col4a1
|
UTSW |
8 |
11,286,423 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Col4a1
|
UTSW |
8 |
11,258,333 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0544:Col4a1
|
UTSW |
8 |
11,276,487 (GRCm39) |
intron |
probably benign |
|
|
R0630:Col4a1
|
UTSW |
8 |
11,249,889 (GRCm39) |
splice site |
probably benign |
|
|
R0648:Col4a1
|
UTSW |
8 |
11,296,892 (GRCm39) |
missense |
unknown |
|
|
R0839:Col4a1
|
UTSW |
8 |
11,271,015 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0900:Col4a1
|
UTSW |
8 |
11,268,014 (GRCm39) |
small deletion |
probably benign |
|
|
R0941:Col4a1
|
UTSW |
8 |
11,258,296 (GRCm39) |
missense |
unknown |
|
|
R1456:Col4a1
|
UTSW |
8 |
11,292,829 (GRCm39) |
splice site |
probably benign |
|
|
R1728:Col4a1
|
UTSW |
8 |
11,262,712 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1832:Col4a1
|
UTSW |
8 |
11,264,644 (GRCm39) |
splice site |
probably benign |
|
|
R1862:Col4a1
|
UTSW |
8 |
11,276,439 (GRCm39) |
intron |
probably benign |
|
|
R1955:Col4a1
|
UTSW |
8 |
11,258,228 (GRCm39) |
splice site |
probably null |
|
|
R2058:Col4a1
|
UTSW |
8 |
11,260,792 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2263:Col4a1
|
UTSW |
8 |
11,362,586 (GRCm39) |
unclassified |
probably benign |
|
|
R2696:Col4a1
|
UTSW |
8 |
11,285,092 (GRCm39) |
splice site |
probably null |
|
|
R3826:Col4a1
|
UTSW |
8 |
11,259,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3828:Col4a1
|
UTSW |
8 |
11,259,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3829:Col4a1
|
UTSW |
8 |
11,259,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3830:Col4a1
|
UTSW |
8 |
11,259,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3923:Col4a1
|
UTSW |
8 |
11,251,665 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3980:Col4a1
|
UTSW |
8 |
11,289,155 (GRCm39) |
intron |
probably benign |
|
|
R4120:Col4a1
|
UTSW |
8 |
11,256,263 (GRCm39) |
missense |
unknown |
|
|
R4152:Col4a1
|
UTSW |
8 |
11,267,227 (GRCm39) |
splice site |
probably null |
|
|
R4437:Col4a1
|
UTSW |
8 |
11,256,387 (GRCm39) |
nonsense |
probably null |
|
|
R5237:Col4a1
|
UTSW |
8 |
11,295,068 (GRCm39) |
unclassified |
probably benign |
|
|
R5362:Col4a1
|
UTSW |
8 |
11,295,760 (GRCm39) |
unclassified |
probably benign |
|
|
R5488:Col4a1
|
UTSW |
8 |
11,362,550 (GRCm39) |
unclassified |
probably benign |
|
|
R5489:Col4a1
|
UTSW |
8 |
11,362,550 (GRCm39) |
unclassified |
probably benign |
|
|
R5864:Col4a1
|
UTSW |
8 |
11,252,973 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5929:Col4a1
|
UTSW |
8 |
11,266,788 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6159:Col4a1
|
UTSW |
8 |
11,270,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6261:Col4a1
|
UTSW |
8 |
11,257,409 (GRCm39) |
splice site |
probably null |
|
|
R6404:Col4a1
|
UTSW |
8 |
11,257,409 (GRCm39) |
splice site |
probably null |
|
|
R6520:Col4a1
|
UTSW |
8 |
11,269,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6862:Col4a1
|
UTSW |
8 |
11,252,926 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6974:Col4a1
|
UTSW |
8 |
11,362,538 (GRCm39) |
unclassified |
probably benign |
|
|
R7329:Col4a1
|
UTSW |
8 |
11,276,494 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7893:Col4a1
|
UTSW |
8 |
11,270,243 (GRCm39) |
missense |
unknown |
|
|
R8392:Col4a1
|
UTSW |
8 |
11,258,333 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8809:Col4a1
|
UTSW |
8 |
11,295,916 (GRCm39) |
missense |
unknown |
|
|
R8957:Col4a1
|
UTSW |
8 |
11,295,906 (GRCm39) |
unclassified |
probably benign |
|
|
R9013:Col4a1
|
UTSW |
8 |
11,272,270 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9048:Col4a1
|
UTSW |
8 |
11,281,944 (GRCm39) |
splice site |
probably benign |
|
|
R9102:Col4a1
|
UTSW |
8 |
11,253,007 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9154:Col4a1
|
UTSW |
8 |
11,267,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9379:Col4a1
|
UTSW |
8 |
11,249,838 (GRCm39) |
missense |
unknown |
|
|
Z1088:Col4a1
|
UTSW |
8 |
11,296,859 (GRCm39) |
splice site |
probably benign |
|
|
Z1177:Col4a1
|
UTSW |
8 |
11,289,024 (GRCm39) |
missense |
unknown |
|
|
Z1177:Col4a1
|
UTSW |
8 |
11,285,218 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCACCCTAGATGAGAGACACGG -3'
(R):5'- TGATAAAGGTGACGTTGGGCTTCC -3'
Sequencing Primer
(F):5'- GAGACTTTTGAGTCCACAGTCAG -3'
(R):5'- CATGGAGCATGTGGACATGG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation