Incidental Mutation 'IGL02408:Crim1'
| ID |
292179 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crim1
|
| Ensembl Gene |
ENSMUSG00000024074 |
| Gene Name |
cysteine rich transmembrane BMP regulator 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
78507677-78684021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78623083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 427
(I427N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112498]
|
| AlphaFold |
Q9JLL0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112498
AA Change: I427N
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: I427N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
IB
|
35 |
111 |
1.87e-5 |
SMART |
|
VWC
|
336 |
390 |
6.04e-13 |
SMART |
|
VWC
|
403 |
456 |
1.15e-9 |
SMART |
|
Pfam:Antistasin
|
469 |
498 |
4.5e-10 |
PFAM |
|
Pfam:Antistasin
|
505 |
532 |
1.5e-8 |
PFAM |
|
Pfam:Antistasin
|
539 |
564 |
5.7e-9 |
PFAM |
|
Pfam:Antistasin
|
567 |
592 |
1.7e-10 |
PFAM |
|
VWC
|
608 |
662 |
1.26e-10 |
SMART |
|
VWC
|
679 |
734 |
1.37e-11 |
SMART |
|
VWC
|
753 |
808 |
1.46e-11 |
SMART |
|
VWC
|
819 |
873 |
1.01e-14 |
SMART |
|
transmembrane domain
|
940 |
962 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mutations in this locus cause perinatal lethality, syndactyly, and eye and kidney abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,621,130 (GRCm39) |
Y278C |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,444 (GRCm39) |
L498P |
possibly damaging |
Het |
| Acot11 |
A |
G |
4: 106,615,578 (GRCm39) |
F271S |
probably damaging |
Het |
| Acr |
T |
A |
15: 89,454,217 (GRCm39) |
Y185N |
probably damaging |
Het |
| Adcy10 |
C |
T |
1: 165,365,949 (GRCm39) |
R489C |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,930,670 (GRCm39) |
T213A |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,291,858 (GRCm39) |
C11* |
probably null |
Het |
| B3galt6 |
A |
T |
4: 156,076,152 (GRCm39) |
Y308N |
probably damaging |
Het |
| Cd226 |
A |
G |
18: 89,225,451 (GRCm39) |
N116S |
probably benign |
Het |
| Crat |
T |
A |
2: 30,297,146 (GRCm39) |
D269V |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,790,298 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,407,776 (GRCm39) |
V374E |
probably damaging |
Het |
| Dtl |
A |
G |
1: 191,273,352 (GRCm39) |
S519P |
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,532,945 (GRCm39) |
R474H |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,058,361 (GRCm39) |
T459A |
possibly damaging |
Het |
| Frmd4b |
A |
G |
6: 97,272,770 (GRCm39) |
L828P |
probably damaging |
Het |
| Gc |
T |
C |
5: 89,593,255 (GRCm39) |
S55G |
probably benign |
Het |
| Gm6455 |
T |
G |
5: 10,917,257 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai2 |
T |
C |
9: 107,493,393 (GRCm39) |
T280A |
probably benign |
Het |
| Hmgn2 |
A |
G |
4: 133,693,260 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
G |
T |
10: 67,062,161 (GRCm39) |
A1505S |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 102,982,142 (GRCm39) |
K1393E |
probably benign |
Het |
| Mcam |
A |
G |
9: 44,051,547 (GRCm39) |
N469D |
probably benign |
Het |
| Mrpl47 |
A |
G |
3: 32,790,789 (GRCm39) |
|
probably null |
Het |
| Mslnl |
C |
T |
17: 25,966,972 (GRCm39) |
A659V |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,013,456 (GRCm39) |
V598A |
probably benign |
Het |
| Npff |
A |
T |
15: 102,433,000 (GRCm39) |
L15Q |
probably null |
Het |
| Obsl1 |
G |
T |
1: 75,481,890 (GRCm39) |
Q327K |
probably damaging |
Het |
| Or13a18 |
T |
C |
7: 140,190,844 (GRCm39) |
V255A |
probably damaging |
Het |
| Or4c58 |
T |
A |
2: 89,675,315 (GRCm39) |
M1L |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or7e165 |
A |
T |
9: 19,694,711 (GRCm39) |
Y94F |
probably benign |
Het |
| Or8b50 |
G |
A |
9: 38,518,417 (GRCm39) |
G219S |
possibly damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,375,851 (GRCm39) |
H1428L |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,627,203 (GRCm39) |
E414G |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,106,617 (GRCm39) |
D3251G |
probably benign |
Het |
| Secisbp2l |
G |
T |
2: 125,582,789 (GRCm39) |
S889* |
probably null |
Het |
| Setx |
T |
A |
2: 29,023,942 (GRCm39) |
C133S |
probably damaging |
Het |
| Slc22a29 |
A |
C |
19: 8,184,649 (GRCm39) |
S214A |
probably benign |
Het |
| Slc30a5 |
A |
C |
13: 100,950,232 (GRCm39) |
L285R |
probably damaging |
Het |
| Taar7a |
T |
G |
10: 23,868,500 (GRCm39) |
I294L |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,304,485 (GRCm39) |
F414I |
probably damaging |
Het |
| Trpc4ap |
A |
T |
2: 155,512,989 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,473,523 (GRCm39) |
E501G |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,439,070 (GRCm39) |
H709R |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,682,004 (GRCm39) |
|
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,640,426 (GRCm39) |
H223Q |
probably benign |
Het |
|
| Other mutations in Crim1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Crim1
|
APN |
17 |
78,677,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01090:Crim1
|
APN |
17 |
78,654,658 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01490:Crim1
|
APN |
17 |
78,642,725 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01686:Crim1
|
APN |
17 |
78,651,863 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01769:Crim1
|
APN |
17 |
78,620,664 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02004:Crim1
|
APN |
17 |
78,680,004 (GRCm39) |
splice site |
probably benign |
|
|
IGL02211:Crim1
|
APN |
17 |
78,662,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02275:Crim1
|
APN |
17 |
78,677,427 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02411:Crim1
|
APN |
17 |
78,642,763 (GRCm39) |
nonsense |
probably null |
|
|
IGL02453:Crim1
|
APN |
17 |
78,651,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02481:Crim1
|
APN |
17 |
78,658,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02632:Crim1
|
APN |
17 |
78,680,103 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02652:Crim1
|
APN |
17 |
78,623,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Crim1
|
APN |
17 |
78,587,402 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02811:Crim1
|
APN |
17 |
78,658,130 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03105:Crim1
|
APN |
17 |
78,623,179 (GRCm39) |
splice site |
probably benign |
|
|
IGL03349:Crim1
|
APN |
17 |
78,662,579 (GRCm39) |
nonsense |
probably null |
|
|
bugeye
|
UTSW |
17 |
78,588,776 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03097:Crim1
|
UTSW |
17 |
78,675,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0227:Crim1
|
UTSW |
17 |
78,651,938 (GRCm39) |
splice site |
probably benign |
|
|
R0458:Crim1
|
UTSW |
17 |
78,620,655 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0482:Crim1
|
UTSW |
17 |
78,680,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0989:Crim1
|
UTSW |
17 |
78,508,373 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1266:Crim1
|
UTSW |
17 |
78,508,262 (GRCm39) |
small deletion |
probably benign |
|
|
R1529:Crim1
|
UTSW |
17 |
78,675,383 (GRCm39) |
missense |
probably benign |
|
|
R1679:Crim1
|
UTSW |
17 |
78,508,228 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1909:Crim1
|
UTSW |
17 |
78,620,556 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2273:Crim1
|
UTSW |
17 |
78,662,608 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3899:Crim1
|
UTSW |
17 |
78,588,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3909:Crim1
|
UTSW |
17 |
78,588,668 (GRCm39) |
splice site |
probably benign |
|
|
R4092:Crim1
|
UTSW |
17 |
78,658,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Crim1
|
UTSW |
17 |
78,545,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4687:Crim1
|
UTSW |
17 |
78,610,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Crim1
|
UTSW |
17 |
78,587,558 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5073:Crim1
|
UTSW |
17 |
78,588,776 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5089:Crim1
|
UTSW |
17 |
78,681,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5284:Crim1
|
UTSW |
17 |
78,620,695 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5461:Crim1
|
UTSW |
17 |
78,545,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Crim1
|
UTSW |
17 |
78,623,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Crim1
|
UTSW |
17 |
78,681,512 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5956:Crim1
|
UTSW |
17 |
78,623,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Crim1
|
UTSW |
17 |
78,610,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6129:Crim1
|
UTSW |
17 |
78,588,738 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6265:Crim1
|
UTSW |
17 |
78,677,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6812:Crim1
|
UTSW |
17 |
78,623,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6858:Crim1
|
UTSW |
17 |
78,623,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Crim1
|
UTSW |
17 |
78,610,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Crim1
|
UTSW |
17 |
78,622,984 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8434:Crim1
|
UTSW |
17 |
78,654,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8782:Crim1
|
UTSW |
17 |
78,508,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8961:Crim1
|
UTSW |
17 |
78,680,117 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8971:Crim1
|
UTSW |
17 |
78,653,409 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9245:Crim1
|
UTSW |
17 |
78,651,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Crim1
|
UTSW |
17 |
78,677,471 (GRCm39) |
missense |
probably benign |
|
|
R9401:Crim1
|
UTSW |
17 |
78,658,294 (GRCm39) |
frame shift |
probably null |
|
|
R9402:Crim1
|
UTSW |
17 |
78,658,294 (GRCm39) |
frame shift |
probably null |
|
|
R9644:Crim1
|
UTSW |
17 |
78,587,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9702:Crim1
|
UTSW |
17 |
78,681,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Crim1
|
UTSW |
17 |
78,610,504 (GRCm39) |
nonsense |
probably null |
|
|
X0064:Crim1
|
UTSW |
17 |
78,508,262 (GRCm39) |
small deletion |
probably benign |
|
|
Z1088:Crim1
|
UTSW |
17 |
78,675,264 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2015-04-16 |
Incidental Mutation