Incidental Mutation 'IGL02411:Crim1'
| ID |
292313 |
| 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 # |
IGL02411
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
78507677-78684021 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 78642763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 494
(R494*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112498]
|
| AlphaFold |
Q9JLL0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000112498
AA Change: R494*
|
| SMART Domains |
Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: R494*
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,055,459 (GRCm39) |
E65G |
probably benign |
Het |
| Abcc8 |
G |
A |
7: 45,756,431 (GRCm39) |
R1425C |
probably damaging |
Het |
| Adcy3 |
A |
T |
12: 4,259,407 (GRCm39) |
|
probably null |
Het |
| AI661453 |
T |
G |
17: 47,778,263 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 15,004,819 (GRCm39) |
Y445F |
probably benign |
Het |
| Atrx |
G |
T |
X: 104,874,587 (GRCm39) |
S1924R |
possibly damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,733,763 (GRCm39) |
T58A |
possibly damaging |
Het |
| Clec1b |
A |
G |
6: 129,378,804 (GRCm39) |
Y97C |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,928,084 (GRCm39) |
S1080P |
probably damaging |
Het |
| Crb1 |
C |
A |
1: 139,176,213 (GRCm39) |
C529F |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,938,257 (GRCm39) |
|
probably benign |
Het |
| Dntt |
T |
A |
19: 41,041,424 (GRCm39) |
|
probably null |
Het |
| Gjb1 |
T |
C |
X: 100,428,611 (GRCm39) |
C280R |
probably damaging |
Het |
| Glp1r |
T |
A |
17: 31,143,485 (GRCm39) |
C174S |
probably damaging |
Het |
| Gm5414 |
A |
T |
15: 101,536,269 (GRCm39) |
Y119N |
probably benign |
Het |
| Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
| Gm9796 |
G |
T |
11: 95,588,756 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9956 |
T |
C |
10: 56,621,388 (GRCm39) |
F17L |
unknown |
Het |
| Il1rap |
A |
T |
16: 26,529,366 (GRCm39) |
D396V |
probably damaging |
Het |
| Impa1 |
T |
C |
3: 10,388,018 (GRCm39) |
K135E |
possibly damaging |
Het |
| Iqub |
G |
A |
6: 24,449,810 (GRCm39) |
A685V |
probably damaging |
Het |
| Jade3 |
T |
C |
X: 20,379,063 (GRCm39) |
V512A |
probably benign |
Het |
| Kif3a |
C |
A |
11: 53,461,525 (GRCm39) |
P57T |
probably damaging |
Het |
| Kndc1 |
G |
T |
7: 139,501,829 (GRCm39) |
|
probably null |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Maged2 |
G |
T |
X: 149,592,755 (GRCm39) |
D343E |
probably benign |
Het |
| Magi2 |
T |
C |
5: 19,883,707 (GRCm39) |
S120P |
probably damaging |
Het |
| Nxph3 |
A |
T |
11: 95,401,656 (GRCm39) |
*253R |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,921,618 (GRCm39) |
H194L |
probably damaging |
Het |
| Pcbd2 |
T |
G |
13: 55,880,764 (GRCm39) |
W7G |
probably benign |
Het |
| Pcdhb14 |
T |
G |
18: 37,582,823 (GRCm39) |
L643R |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,605,177 (GRCm39) |
|
probably null |
Het |
| Poln |
G |
T |
5: 34,270,666 (GRCm39) |
S455* |
probably null |
Het |
| Ppp2r1a |
T |
C |
17: 21,171,596 (GRCm39) |
|
probably benign |
Het |
| Rsu1 |
T |
G |
2: 13,082,308 (GRCm39) |
|
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,583,202 (GRCm39) |
M360K |
possibly damaging |
Het |
| Sox30 |
A |
T |
11: 45,871,951 (GRCm39) |
K269* |
probably null |
Het |
| Thbs1 |
T |
C |
2: 117,945,451 (GRCm39) |
V310A |
probably benign |
Het |
| Tie1 |
C |
A |
4: 118,343,760 (GRCm39) |
E61* |
probably null |
Het |
| Tm2d1 |
G |
T |
4: 98,268,911 (GRCm39) |
P62Q |
probably damaging |
Het |
| Tpp1 |
G |
T |
7: 105,398,826 (GRCm39) |
P201Q |
probably damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,598 (GRCm39) |
E205G |
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 |
|
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 |
|
|
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 |
Incidental Mutation