Incidental Mutation 'IGL03349:Crim1'
| ID |
419621 |
| 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 # |
IGL03349
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
78507677-78684021 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 78662579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 801
(K801*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112498]
|
| AlphaFold |
Q9JLL0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000112498
AA Change: K801*
|
| SMART Domains |
Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: K801*
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,455 (GRCm39) |
Y3648H |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,558,249 (GRCm39) |
R172* |
probably null |
Het |
| Apba1 |
A |
T |
19: 23,894,939 (GRCm39) |
E458D |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,308,054 (GRCm39) |
V1590D |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,275,489 (GRCm39) |
S332P |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,865,124 (GRCm39) |
F163I |
probably damaging |
Het |
| Azin2 |
A |
T |
4: 128,839,907 (GRCm39) |
Y228* |
probably null |
Het |
| Cd109 |
C |
T |
9: 78,543,767 (GRCm39) |
H104Y |
probably benign |
Het |
| Ces2a |
G |
T |
8: 105,460,712 (GRCm39) |
L3F |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,935,222 (GRCm39) |
V889A |
possibly damaging |
Het |
| Cxcr1 |
T |
C |
1: 74,231,687 (GRCm39) |
T112A |
possibly damaging |
Het |
| Cyp1a2 |
A |
G |
9: 57,587,158 (GRCm39) |
S378P |
possibly damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,632,128 (GRCm39) |
Y80C |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,796,256 (GRCm39) |
W761R |
probably damaging |
Het |
| Dgki |
C |
T |
6: 37,074,562 (GRCm39) |
|
probably null |
Het |
| Dnase1l3 |
T |
C |
14: 7,984,146 (GRCm38) |
T89A |
probably benign |
Het |
| Dock4 |
C |
A |
12: 40,783,309 (GRCm39) |
Q748K |
probably benign |
Het |
| Elmo3 |
A |
G |
8: 106,033,020 (GRCm39) |
E68G |
possibly damaging |
Het |
| Fer1l4 |
C |
A |
2: 155,886,654 (GRCm39) |
E692* |
probably null |
Het |
| Fkbp9 |
T |
A |
6: 56,826,703 (GRCm39) |
M101K |
probably damaging |
Het |
| Grin1 |
C |
A |
2: 25,200,448 (GRCm39) |
V225L |
probably benign |
Het |
| Gucy2d |
T |
C |
7: 98,099,048 (GRCm39) |
V288A |
possibly damaging |
Het |
| Heatr5b |
C |
A |
17: 79,062,749 (GRCm39) |
K1933N |
probably benign |
Het |
| Hsdl1 |
A |
T |
8: 120,292,436 (GRCm39) |
S260T |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,287,833 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
T |
5: 31,441,474 (GRCm39) |
V220E |
probably benign |
Het |
| Igkv12-47 |
C |
T |
6: 69,727,850 (GRCm39) |
|
noncoding transcript |
Het |
| Ism1 |
C |
T |
2: 139,573,895 (GRCm39) |
R82* |
probably null |
Het |
| Lrch3 |
A |
G |
16: 32,775,694 (GRCm39) |
T187A |
probably damaging |
Het |
| Ltbr |
T |
A |
6: 125,289,329 (GRCm39) |
D160V |
probably damaging |
Het |
| Lypd11 |
T |
A |
7: 24,422,261 (GRCm39) |
S163C |
probably damaging |
Het |
| Mark3 |
A |
T |
12: 111,594,684 (GRCm39) |
K353I |
probably benign |
Het |
| Mrm3 |
A |
T |
11: 76,140,772 (GRCm39) |
H260L |
probably damaging |
Het |
| Nckap1 |
T |
C |
2: 80,355,904 (GRCm39) |
Q627R |
probably benign |
Het |
| Neb |
T |
A |
2: 52,168,964 (GRCm39) |
Y1857F |
possibly damaging |
Het |
| Ntsr1 |
A |
G |
2: 180,142,295 (GRCm39) |
T29A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,226,228 (GRCm39) |
G768D |
probably benign |
Het |
| Or5k17 |
T |
C |
16: 58,746,323 (GRCm39) |
M204V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,179,551 (GRCm39) |
|
probably benign |
Het |
| Pld4 |
A |
T |
12: 112,734,313 (GRCm39) |
Q393L |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,065 (GRCm39) |
I335V |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,100,710 (GRCm39) |
I2071M |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,331 (GRCm39) |
V807E |
probably damaging |
Het |
| Rnf20 |
G |
A |
4: 49,655,936 (GRCm39) |
A961T |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,056,865 (GRCm39) |
Q126R |
possibly damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,237,696 (GRCm39) |
Y382N |
probably damaging |
Het |
| Snrpn |
C |
T |
7: 59,635,613 (GRCm39) |
G129D |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,984,335 (GRCm39) |
N386I |
possibly damaging |
Het |
| Ssna1 |
T |
C |
2: 25,161,542 (GRCm39) |
N102D |
possibly damaging |
Het |
| Tex21 |
A |
T |
12: 76,268,365 (GRCm39) |
I139N |
probably benign |
Het |
| Trgc2 |
T |
A |
13: 19,489,346 (GRCm39) |
T129S |
probably benign |
Het |
| Trim21 |
T |
C |
7: 102,212,484 (GRCm39) |
T161A |
probably benign |
Het |
| Vmn2r82 |
T |
A |
10: 79,213,703 (GRCm39) |
H96Q |
probably benign |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation