Incidental Mutation 'R0227:Crim1'
| ID |
34016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crim1
|
| Ensembl Gene |
ENSMUSG00000024074 |
| Gene Name |
cysteine rich transmembrane BMP regulator 1 |
| Synonyms |
|
| MMRRC Submission |
038472-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0227 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
78507677-78684021 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 78651938 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 benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
| Validation Efficiency |
86% (37/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
A |
T |
7: 136,989,438 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 66,294,222 (GRCm39) |
T404S |
probably benign |
Het |
| Ap4m1 |
T |
C |
5: 138,174,538 (GRCm39) |
|
probably benign |
Het |
| Atn1 |
A |
T |
6: 124,723,893 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,416,533 (GRCm39) |
Y202C |
possibly damaging |
Het |
| Ceacam18 |
G |
T |
7: 43,288,815 (GRCm39) |
G189C |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,971,117 (GRCm39) |
W67* |
probably null |
Het |
| Col2a1 |
C |
T |
15: 97,874,636 (GRCm39) |
E1334K |
unknown |
Het |
| Csmd1 |
A |
G |
8: 16,441,836 (GRCm39) |
S343P |
probably benign |
Het |
| D430041D05Rik |
G |
T |
2: 104,035,545 (GRCm39) |
D1594E |
possibly damaging |
Het |
| Ess2 |
C |
T |
16: 17,720,135 (GRCm39) |
V406I |
probably damaging |
Het |
| Gcm2 |
C |
T |
13: 41,259,332 (GRCm39) |
V46M |
probably damaging |
Het |
| Gm3486 |
A |
T |
14: 41,206,518 (GRCm39) |
V185E |
probably benign |
Het |
| Gtf3a |
C |
A |
5: 146,892,199 (GRCm39) |
R317S |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,319,510 (GRCm39) |
I320V |
probably benign |
Het |
| Jag1 |
A |
G |
2: 136,957,538 (GRCm39) |
V58A |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,293,184 (GRCm39) |
E1241G |
probably benign |
Het |
| Mogat2 |
T |
A |
7: 98,872,339 (GRCm39) |
I171F |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
A |
T |
11: 75,549,520 (GRCm39) |
Y201F |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,796,806 (GRCm39) |
I884V |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,209,541 (GRCm39) |
I264T |
possibly damaging |
Het |
| Or8g30 |
A |
G |
9: 39,229,974 (GRCm39) |
V312A |
probably benign |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,219,831 (GRCm39) |
V98A |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,707,841 (GRCm39) |
D287G |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,565,136 (GRCm39) |
V117A |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,226,968 (GRCm39) |
F697S |
possibly damaging |
Het |
| Son |
T |
A |
16: 91,453,761 (GRCm39) |
M836K |
probably damaging |
Het |
| Spock1 |
T |
C |
13: 57,588,290 (GRCm39) |
M258V |
possibly damaging |
Het |
| Stk10 |
G |
T |
11: 32,567,859 (GRCm39) |
C887F |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,907,442 (GRCm39) |
S625P |
probably benign |
Het |
| Synrg |
T |
A |
11: 83,900,258 (GRCm39) |
D821E |
probably damaging |
Het |
| Tafa5 |
T |
C |
15: 87,604,691 (GRCm39) |
|
probably benign |
Het |
| Tg |
C |
A |
15: 66,570,295 (GRCm39) |
A1389E |
possibly damaging |
Het |
| Tspan33 |
G |
A |
6: 29,713,477 (GRCm39) |
V134M |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,561 (GRCm39) |
V242I |
probably benign |
Het |
| Vmn1r63 |
C |
T |
7: 5,805,741 (GRCm39) |
W297* |
probably null |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Zic5 |
A |
G |
14: 122,697,073 (GRCm39) |
I514T |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACATGGCGTCTGTGTGTCTCC -3'
(R):5'- CATCGAGCCTTGTTTCCAGCCTTAG -3'
Sequencing Primer
(F):5'- TGTCTCCACAGGGGAGGAAC -3'
(R):5'- ACAGACATGACCACGTTAGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation