Incidental Mutation 'R6117:Crim1'
ID |
485187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crim1
|
Ensembl Gene |
ENSMUSG00000024074 |
Gene Name |
cysteine rich transmembrane BMP regulator 1 |
Synonyms |
|
MMRRC Submission |
044266-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6117 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
78507677-78684021 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 78610517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 324
(D324A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108117
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112498]
|
AlphaFold |
Q9JLL0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112498
AA Change: D324A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108117 Gene: ENSMUSG00000024074 AA Change: D324A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175238
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
A |
G |
7: 76,348,534 (GRCm39) |
Y625C |
probably damaging |
Het |
Ankmy1 |
A |
G |
1: 92,788,996 (GRCm39) |
|
probably benign |
Het |
Apmap |
T |
C |
2: 150,442,252 (GRCm39) |
T41A |
probably benign |
Het |
Cacna1a |
A |
G |
8: 85,341,350 (GRCm39) |
Y1804C |
probably damaging |
Het |
Cacna1e |
A |
T |
1: 154,437,537 (GRCm39) |
I333N |
possibly damaging |
Het |
Cdsn |
C |
A |
17: 35,865,931 (GRCm39) |
S153R |
unknown |
Het |
Celsr1 |
A |
T |
15: 85,816,612 (GRCm39) |
M1777K |
probably benign |
Het |
Cmtr1 |
A |
G |
17: 29,901,139 (GRCm39) |
M249V |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,231,674 (GRCm39) |
L1138P |
probably damaging |
Het |
Dmap1 |
T |
A |
4: 117,532,732 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 118,010,397 (GRCm39) |
Y307C |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,270,566 (GRCm39) |
L956H |
probably damaging |
Het |
Enpp3 |
C |
T |
10: 24,663,750 (GRCm39) |
S537N |
probably damaging |
Het |
Eya3 |
T |
A |
4: 132,439,173 (GRCm39) |
L323Q |
probably damaging |
Het |
Fads3 |
A |
T |
19: 10,031,631 (GRCm39) |
H226L |
probably damaging |
Het |
Flrt3 |
T |
A |
2: 140,502,365 (GRCm39) |
D421V |
possibly damaging |
Het |
Frmd4a |
T |
C |
2: 4,607,060 (GRCm39) |
V370A |
possibly damaging |
Het |
Gapvd1 |
T |
C |
2: 34,580,471 (GRCm39) |
|
probably null |
Het |
Gm2178 |
T |
C |
14: 26,235,995 (GRCm39) |
|
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,937,888 (GRCm39) |
N390S |
probably benign |
Het |
Hoxa10 |
T |
A |
6: 52,211,800 (GRCm39) |
R39* |
probably null |
Het |
Kcnj1 |
A |
G |
9: 32,308,478 (GRCm39) |
T281A |
probably damaging |
Het |
Myo10 |
T |
C |
15: 25,805,745 (GRCm39) |
Y1709H |
probably benign |
Het |
Nacad |
T |
C |
11: 6,549,810 (GRCm39) |
D1127G |
probably benign |
Het |
Naip1 |
T |
A |
13: 100,581,245 (GRCm39) |
M1L |
probably damaging |
Het |
Or10ak9 |
A |
T |
4: 118,726,341 (GRCm39) |
Y121F |
probably benign |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Pcdhb12 |
G |
A |
18: 37,568,695 (GRCm39) |
|
probably benign |
Het |
Pde1b |
T |
C |
15: 103,429,909 (GRCm39) |
V134A |
probably damaging |
Het |
Plxnb2 |
A |
T |
15: 89,042,203 (GRCm39) |
D1600E |
probably benign |
Het |
Prss54 |
T |
A |
8: 96,292,086 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,465,741 (GRCm39) |
I4757N |
probably damaging |
Het |
Slc1a6 |
T |
C |
10: 78,624,822 (GRCm39) |
Y76H |
possibly damaging |
Het |
Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
Sox15 |
G |
T |
11: 69,546,716 (GRCm39) |
G173V |
possibly damaging |
Het |
Stard3 |
T |
C |
11: 98,263,088 (GRCm39) |
S48P |
probably damaging |
Het |
Stk32c |
G |
A |
7: 138,702,839 (GRCm39) |
Q67* |
probably null |
Het |
Svil |
T |
A |
18: 5,116,016 (GRCm39) |
W2101R |
probably damaging |
Het |
Taar7e |
T |
A |
10: 23,914,427 (GRCm39) |
Y306N |
probably damaging |
Het |
Tarbp1 |
T |
A |
8: 127,154,280 (GRCm39) |
M1485L |
probably benign |
Het |
Togaram1 |
A |
G |
12: 65,014,261 (GRCm39) |
D504G |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,739,771 (GRCm39) |
L1091S |
possibly damaging |
Het |
Unc80 |
A |
G |
1: 66,714,226 (GRCm39) |
E2856G |
possibly damaging |
Het |
Usp47 |
C |
T |
7: 111,687,139 (GRCm39) |
T699M |
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 |
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'- CGTAGAGTAGGTACTTGCCAC -3'
(R):5'- TGTCTGAGGTTCCCTGTGAC -3'
Sequencing Primer
(F):5'- AGAGTAGGTACTTGCCACTTTGTTTG -3'
(R):5'- CTGAGGTTCCCTGTGACAATATGAC -3'
|
Posted On |
2017-08-16 |