Incidental Mutation 'IGL02632:Crim1'
ID |
301343 |
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 # |
IGL02632
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
78507677-78684021 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78680103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 948
(I948T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108117
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112498]
|
AlphaFold |
Q9JLL0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112498
AA Change: I948T
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108117 Gene: ENSMUSG00000024074 AA Change: I948T
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
T |
C |
8: 41,208,237 (GRCm39) |
V501A |
possibly damaging |
Het |
Alpl |
T |
G |
4: 137,481,217 (GRCm39) |
N145T |
probably damaging |
Het |
Aqp5 |
T |
A |
15: 99,491,216 (GRCm39) |
|
probably benign |
Het |
Atp1a2 |
T |
A |
1: 172,108,181 (GRCm39) |
D640V |
possibly damaging |
Het |
Atp5po |
T |
C |
16: 91,725,830 (GRCm39) |
E49G |
probably benign |
Het |
Card14 |
A |
G |
11: 119,229,730 (GRCm39) |
D747G |
probably benign |
Het |
Cfap47 |
A |
T |
X: 78,540,279 (GRCm39) |
L553H |
probably damaging |
Het |
Cpz |
A |
T |
5: 35,669,155 (GRCm39) |
D325E |
possibly damaging |
Het |
Dpysl3 |
A |
T |
18: 43,526,090 (GRCm39) |
S2T |
possibly damaging |
Het |
Fat4 |
T |
C |
3: 39,056,913 (GRCm39) |
V4203A |
probably benign |
Het |
Gapvd1 |
G |
A |
2: 34,574,186 (GRCm39) |
|
probably benign |
Het |
Gpatch2 |
A |
G |
1: 186,958,178 (GRCm39) |
R155G |
probably damaging |
Het |
Grpr |
A |
T |
X: 162,298,090 (GRCm39) |
V318E |
probably damaging |
Het |
Hipk1 |
T |
C |
3: 103,667,861 (GRCm39) |
T569A |
probably benign |
Het |
Il3ra |
G |
A |
14: 14,350,807 (GRCm38) |
|
probably null |
Het |
Llgl2 |
A |
G |
11: 115,735,698 (GRCm39) |
H98R |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,493,628 (GRCm39) |
D663G |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,650,647 (GRCm39) |
N205S |
probably damaging |
Het |
Mamdc2 |
C |
T |
19: 23,308,340 (GRCm39) |
E521K |
probably benign |
Het |
Mapre2 |
A |
G |
18: 23,991,217 (GRCm39) |
M162V |
probably benign |
Het |
Mettl22 |
T |
C |
16: 8,302,117 (GRCm39) |
|
probably benign |
Het |
Mib2 |
T |
C |
4: 155,740,036 (GRCm39) |
D739G |
probably damaging |
Het |
Mroh2b |
T |
C |
15: 4,960,583 (GRCm39) |
F772S |
probably damaging |
Het |
Mtss1 |
C |
T |
15: 58,815,864 (GRCm39) |
M565I |
probably damaging |
Het |
Myt1l |
T |
G |
12: 29,964,292 (GRCm39) |
S1077A |
unknown |
Het |
Nalcn |
T |
C |
14: 123,555,265 (GRCm39) |
T873A |
probably benign |
Het |
Nwd1 |
T |
A |
8: 73,394,082 (GRCm39) |
H448Q |
possibly damaging |
Het |
Odad2 |
A |
G |
18: 7,214,727 (GRCm39) |
|
probably benign |
Het |
Or14j3 |
T |
C |
17: 37,901,232 (GRCm39) |
E4G |
probably benign |
Het |
Or51m1 |
A |
G |
7: 103,578,914 (GRCm39) |
I295V |
possibly damaging |
Het |
Or5j3 |
T |
C |
2: 86,128,904 (GRCm39) |
V248A |
probably damaging |
Het |
Palld |
C |
T |
8: 61,968,279 (GRCm39) |
E1096K |
probably damaging |
Het |
Pdcd2 |
A |
G |
17: 15,742,054 (GRCm39) |
V292A |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,153,863 (GRCm39) |
Y477C |
probably damaging |
Het |
Pramel16 |
A |
G |
4: 143,676,507 (GRCm39) |
I199T |
possibly damaging |
Het |
Rcbtb1 |
T |
C |
14: 59,462,131 (GRCm39) |
L254P |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rsl1 |
A |
C |
13: 67,330,227 (GRCm39) |
H225P |
probably damaging |
Het |
Sec14l2 |
T |
C |
11: 4,061,222 (GRCm39) |
I80V |
probably benign |
Het |
Sema6a |
G |
T |
18: 47,423,222 (GRCm39) |
D261E |
probably damaging |
Het |
Serpinb9b |
T |
A |
13: 33,223,806 (GRCm39) |
S333T |
probably benign |
Het |
Slc24a4 |
T |
C |
12: 102,200,941 (GRCm39) |
V277A |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,575 (GRCm39) |
H88L |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tmprss15 |
T |
A |
16: 78,782,790 (GRCm39) |
N758I |
probably damaging |
Het |
Ube3b |
C |
T |
5: 114,536,902 (GRCm39) |
A300V |
probably benign |
Het |
Vmn2r82 |
G |
A |
10: 79,192,542 (GRCm39) |
V40I |
probably benign |
Het |
Vsig4 |
G |
T |
X: 95,291,378 (GRCm39) |
Q265K |
probably benign |
Het |
Wdr91 |
T |
C |
6: 34,865,977 (GRCm39) |
D525G |
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 |
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 |