Incidental Mutation 'R9402:Crim1'
| ID |
711319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crim1
|
| Ensembl Gene |
ENSMUSG00000024074 |
| Gene Name |
cysteine rich transmembrane BMP regulator 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9402 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
78507677-78684021 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CCGC to CC
at 78658294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112498]
|
| AlphaFold |
Q9JLL0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000112498
|
| SMART Domains |
Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,049,154 (GRCm39) |
Q218L |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,614,682 (GRCm39) |
F1083S |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,608,656 (GRCm39) |
N257D |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,860,551 (GRCm39) |
M692L |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,215,865 (GRCm39) |
P1530Q |
unknown |
Het |
| Cyp4f39 |
T |
C |
17: 32,710,183 (GRCm39) |
|
probably null |
Het |
| Daam1 |
A |
G |
12: 72,006,604 (GRCm39) |
T674A |
probably benign |
Het |
| Elp2 |
A |
T |
18: 24,759,220 (GRCm39) |
I526L |
probably benign |
Het |
| Exoc4 |
T |
A |
6: 33,453,078 (GRCm39) |
*523K |
probably null |
Het |
| Fbxl7 |
G |
A |
15: 26,552,589 (GRCm39) |
S226L |
probably damaging |
Het |
| Fbxl9 |
T |
A |
8: 106,049,988 (GRCm39) |
Y12F |
probably benign |
Het |
| Fry |
G |
A |
5: 150,357,161 (GRCm39) |
E1903K |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,360,318 (GRCm39) |
R1988K |
probably damaging |
Het |
| Gas1 |
A |
T |
13: 60,324,016 (GRCm39) |
M206K |
probably damaging |
Het |
| Gbp10 |
T |
A |
5: 105,381,863 (GRCm39) |
T96S |
possibly damaging |
Het |
| Gm14569 |
G |
A |
X: 35,694,549 (GRCm39) |
P1387S |
probably damaging |
Het |
| Gpaa1 |
A |
G |
15: 76,216,418 (GRCm39) |
T105A |
probably benign |
Het |
| Hoxc13 |
C |
A |
15: 102,830,051 (GRCm39) |
C143* |
probably null |
Het |
| Htt |
T |
C |
5: 35,006,324 (GRCm39) |
I1411T |
probably damaging |
Het |
| Inava |
T |
G |
1: 136,155,348 (GRCm39) |
S86R |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,635,678 (GRCm39) |
C46Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,609,482 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,872,210 (GRCm39) |
Y460N |
possibly damaging |
Het |
| Lamb3 |
C |
A |
1: 193,013,704 (GRCm39) |
T526K |
|
Het |
| Luzp1 |
T |
A |
4: 136,270,493 (GRCm39) |
H905Q |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,812,463 (GRCm39) |
H958Q |
probably benign |
Het |
| Magi1 |
T |
C |
6: 94,260,278 (GRCm39) |
N9S |
probably benign |
Het |
| Mmadhc |
A |
T |
2: 50,171,119 (GRCm39) |
V231E |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,399,151 (GRCm39) |
M364K |
unknown |
Het |
| Nae1 |
A |
G |
8: 105,254,817 (GRCm39) |
|
probably null |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,718,933 (GRCm39) |
F252S |
|
Het |
| Nlrp9a |
A |
T |
7: 26,270,030 (GRCm39) |
N874I |
possibly damaging |
Het |
| Nodal |
T |
C |
10: 61,259,379 (GRCm39) |
I272T |
probably damaging |
Het |
| Or4a15 |
C |
A |
2: 89,193,123 (GRCm39) |
G217* |
probably null |
Het |
| Or4c12 |
A |
T |
2: 89,774,284 (GRCm39) |
Y58* |
probably null |
Het |
| Or51a24 |
G |
A |
7: 103,733,610 (GRCm39) |
R226* |
probably null |
Het |
| Or52ab4 |
T |
C |
7: 102,988,196 (GRCm39) |
S312P |
probably benign |
Het |
| Orm1 |
C |
A |
4: 63,263,369 (GRCm39) |
Q61K |
possibly damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,684,646 (GRCm39) |
V371A |
probably damaging |
Het |
| Pcdhb19 |
C |
T |
18: 37,632,532 (GRCm39) |
Q776* |
probably null |
Het |
| Phf14 |
A |
G |
6: 11,933,779 (GRCm39) |
R214G |
possibly damaging |
Het |
| Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
| Pigz |
A |
G |
16: 31,764,187 (GRCm39) |
E415G |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 143,998,026 (GRCm39) |
T406A |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,819,253 (GRCm39) |
E1082G |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,815,031 (GRCm39) |
C445R |
unknown |
Het |
| Scn3b |
A |
T |
9: 40,193,852 (GRCm39) |
E193V |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,510,456 (GRCm39) |
N1315K |
probably damaging |
Het |
| Snx14 |
C |
T |
9: 88,289,490 (GRCm39) |
G254D |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,406,705 (GRCm39) |
D560G |
probably benign |
Het |
| Srp72 |
T |
A |
5: 77,124,329 (GRCm39) |
L65* |
probably null |
Het |
| Steap1 |
T |
A |
5: 5,790,664 (GRCm39) |
I95F |
|
Het |
| Taf3 |
A |
G |
2: 9,955,923 (GRCm39) |
|
probably null |
Het |
| Taok2 |
T |
C |
7: 126,469,400 (GRCm39) |
N1143D |
|
Het |
| Tas2r114 |
C |
T |
6: 131,666,894 (GRCm39) |
G45S |
possibly damaging |
Het |
| Tcerg1l |
T |
C |
7: 137,811,551 (GRCm39) |
K548E |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,141,505 (GRCm39) |
L328Q |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,021,623 (GRCm39) |
H1096R |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,709,652 (GRCm39) |
Y233N |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,064 (GRCm39) |
V1303A |
probably benign |
Het |
| Ugt1a2 |
T |
C |
1: 88,128,684 (GRCm39) |
F109S |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Zfp748 |
A |
G |
13: 67,693,511 (GRCm39) |
V54A |
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 |
|
IGL02408:Crim1
|
APN |
17 |
78,623,083 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGACTTTGTAGTGCAGAAGC -3'
(R):5'- CACGCTCGTTGGCTGTATTATG -3'
Sequencing Primer
(F):5'- CTTTGTAGTGCAGAAGCCGGAG -3'
(R):5'- TGGGTGATCACAGGGAATAGACTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation