Incidental Mutation 'R8434:Crim1'
| ID |
653924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crim1
|
| Ensembl Gene |
ENSMUSG00000024074 |
| Gene Name |
cysteine rich transmembrane BMP regulator 1 |
| Synonyms |
|
| MMRRC Submission |
067900-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
78507677-78684021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78654686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 654
(R654H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112498]
|
| AlphaFold |
Q9JLL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112498
AA Change: R654H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: R654H
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,021 (GRCm39) |
T737A |
probably damaging |
Het |
| 2310034C09Rik |
A |
G |
16: 88,556,260 (GRCm39) |
Y158C |
probably damaging |
Het |
| Abhd18 |
T |
A |
3: 40,885,331 (GRCm39) |
S239T |
possibly damaging |
Het |
| Ankrd13b |
G |
A |
11: 77,368,552 (GRCm39) |
T56I |
probably benign |
Het |
| Arhgef10l |
T |
A |
4: 140,291,582 (GRCm39) |
Q454L |
possibly damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,179 (GRCm39) |
E572G |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,282,257 (GRCm39) |
H164R |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,631,917 (GRCm39) |
M196T |
probably benign |
Het |
| Cnbd1 |
T |
G |
4: 19,055,045 (GRCm39) |
K127T |
probably benign |
Het |
| Cog3 |
A |
T |
14: 75,979,836 (GRCm39) |
V165E |
probably damaging |
Het |
| Ctnnb1 |
G |
A |
9: 120,786,628 (GRCm39) |
V617I |
possibly damaging |
Het |
| Dach1 |
T |
A |
14: 98,406,129 (GRCm39) |
Q206L |
probably damaging |
Het |
| Dhx30 |
C |
T |
9: 109,929,974 (GRCm39) |
V41I |
probably benign |
Het |
| Dnase2a |
T |
C |
8: 85,636,410 (GRCm39) |
L176P |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,360,739 (GRCm39) |
D262G |
probably damaging |
Het |
| Dsel |
T |
A |
1: 111,789,385 (GRCm39) |
E383D |
probably damaging |
Het |
| Flt1 |
T |
A |
5: 147,576,253 (GRCm39) |
Y585F |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,926,190 (GRCm39) |
I304N |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,337 (GRCm39) |
D309G |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,762,086 (GRCm39) |
V291A |
probably damaging |
Het |
| Gpam |
C |
T |
19: 55,070,063 (GRCm39) |
V398M |
possibly damaging |
Het |
| Grin3b |
C |
T |
10: 79,810,422 (GRCm39) |
R643C |
probably damaging |
Het |
| Hdac3 |
T |
A |
18: 38,074,475 (GRCm39) |
H339L |
possibly damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,610,621 (GRCm39) |
Q326L |
unknown |
Het |
| Insr |
T |
C |
8: 3,215,514 (GRCm39) |
|
probably benign |
Het |
| Ivl |
T |
A |
3: 92,479,943 (GRCm39) |
T41S |
probably benign |
Het |
| Lama4 |
C |
T |
10: 38,902,703 (GRCm39) |
P226S |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,613,621 (GRCm39) |
|
probably null |
Het |
| Lrrc42 |
A |
T |
4: 107,104,721 (GRCm39) |
N81K |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,897,900 (GRCm39) |
H838Q |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,990,806 (GRCm39) |
M314V |
possibly damaging |
Het |
| Me3 |
A |
G |
7: 89,389,086 (GRCm39) |
E130G |
probably damaging |
Het |
| Mpnd |
A |
G |
17: 56,316,405 (GRCm39) |
D28G |
possibly damaging |
Het |
| Mtch2 |
G |
T |
2: 90,683,208 (GRCm39) |
E102* |
probably null |
Het |
| Myh13 |
A |
T |
11: 67,254,011 (GRCm39) |
|
probably null |
Het |
| Or10ag55-ps1 |
G |
A |
2: 87,114,978 (GRCm39) |
V115I |
probably benign |
Het |
| Or5ae2 |
C |
A |
7: 84,506,497 (GRCm39) |
H309N |
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,074,192 (GRCm39) |
D891V |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,327,957 (GRCm39) |
|
probably null |
Het |
| Rag1 |
A |
G |
2: 101,473,009 (GRCm39) |
L711P |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,636 (GRCm39) |
Y4227* |
probably null |
Het |
| Sec23ip |
C |
T |
7: 128,352,151 (GRCm39) |
H176Y |
probably benign |
Het |
| Sema3a |
T |
C |
5: 13,523,487 (GRCm39) |
|
probably null |
Het |
| Serpina10 |
C |
T |
12: 103,594,563 (GRCm39) |
G219R |
probably damaging |
Het |
| Sp1 |
C |
T |
15: 102,318,118 (GRCm39) |
L546F |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,073,057 (GRCm39) |
N1256S |
probably benign |
Het |
| Tbc1d5 |
G |
T |
17: 51,089,455 (GRCm39) |
|
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,964,765 (GRCm39) |
S33G |
probably benign |
Het |
| Tpsab1 |
A |
G |
17: 25,564,445 (GRCm39) |
L3P |
possibly damaging |
Het |
| Trgv3 |
A |
G |
13: 19,427,036 (GRCm39) |
T8A |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,159,050 (GRCm39) |
|
probably benign |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,610 (GRCm39) |
S119P |
possibly damaging |
Het |
| Vmn2r31 |
A |
G |
7: 7,387,699 (GRCm39) |
L624P |
probably damaging |
Het |
| Vps33a |
A |
T |
5: 123,671,944 (GRCm39) |
W475R |
possibly damaging |
Het |
| Xpnpep3 |
G |
T |
15: 81,311,795 (GRCm39) |
R167L |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,463,918 (GRCm39) |
S1384T |
probably damaging |
Het |
| Zfp3 |
G |
A |
11: 70,663,384 (GRCm39) |
E448K |
probably benign |
Het |
| Zfp362 |
T |
A |
4: 128,679,769 (GRCm39) |
H299L |
probably damaging |
Het |
| Zfp664 |
C |
T |
5: 124,962,827 (GRCm39) |
L74F |
possibly damaging |
Het |
| Zfp808 |
A |
G |
13: 62,319,926 (GRCm39) |
Y385C |
probably damaging |
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 |
|
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'- TTCTCCTGTGCCAAAACTGC -3'
(R):5'- TTTGGCTAATCGTTCACCGTAG -3'
Sequencing Primer
(F):5'- GTGCCAAAACTGCTTCTTTACCAGG -3'
(R):5'- ACCGTAGCCTGTTCAGTCTGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation