Incidental Mutation 'R9250:Crim1'
| ID |
701518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crim1
|
| Ensembl Gene |
ENSMUSG00000024074 |
| Gene Name |
cysteine rich transmembrane BMP regulator 1 |
| Synonyms |
|
| MMRRC Submission |
068989-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
78507677-78684021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78677471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 891
(H891Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112498]
|
| AlphaFold |
Q9JLL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112498
AA Change: H891Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: H891Y
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
| Validation Efficiency |
98% (55/56) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
G |
3: 137,772,389 (GRCm39) |
A526G |
probably damaging |
Het |
| AAdacl4fm3 |
A |
T |
4: 144,442,011 (GRCm39) |
I80K |
probably benign |
Het |
| Ablim3 |
A |
G |
18: 61,944,501 (GRCm39) |
L526P |
probably damaging |
Het |
| Aknad1 |
T |
C |
3: 108,664,143 (GRCm39) |
S369P |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,258,259 (GRCm39) |
S119P |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,054,788 (GRCm39) |
I1110T |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,101,398 (GRCm39) |
S419P |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,638,919 (GRCm39) |
E269G |
probably benign |
Het |
| Ddt |
T |
C |
10: 75,609,063 (GRCm39) |
D32G |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,240,543 (GRCm39) |
D236G |
probably benign |
Het |
| Edem1 |
C |
A |
6: 108,805,850 (GRCm39) |
D50E |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,256,915 (GRCm39) |
N490K |
probably damaging |
Het |
| Fam117a |
C |
A |
11: 95,228,071 (GRCm39) |
D60E |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,330 (GRCm39) |
S305P |
unknown |
Het |
| Fbxw21 |
A |
G |
9: 108,972,846 (GRCm39) |
F363L |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,167,422 (GRCm39) |
C224R |
probably damaging |
Het |
| Gad1 |
T |
A |
2: 70,409,543 (GRCm39) |
N211K |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,038,932 (GRCm39) |
T906A |
possibly damaging |
Het |
| Igkv3-5 |
T |
C |
6: 70,640,758 (GRCm39) |
S80P |
probably benign |
Het |
| Igkv4-90 |
C |
A |
6: 68,784,331 (GRCm39) |
G62* |
probably null |
Het |
| Il31ra |
A |
T |
13: 112,669,508 (GRCm39) |
Y386N |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,928,909 (GRCm39) |
H1159N |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,759,683 (GRCm39) |
S722F |
possibly damaging |
Het |
| Mipep |
T |
C |
14: 61,028,358 (GRCm39) |
Y157H |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,461,169 (GRCm39) |
E293G |
probably damaging |
Het |
| Mmp7 |
A |
T |
9: 7,697,885 (GRCm39) |
|
probably benign |
Het |
| Mr1 |
A |
G |
1: 155,013,325 (GRCm39) |
L84P |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,168,913 (GRCm39) |
V1874A |
possibly damaging |
Het |
| Nefm |
T |
C |
14: 68,358,570 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,465,151 (GRCm39) |
M80T |
probably damaging |
Het |
| Nubp2 |
A |
G |
17: 25,103,373 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
C |
T |
7: 107,655,014 (GRCm39) |
T275M |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,278 (GRCm39) |
I41T |
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,718 (GRCm39) |
C240* |
probably null |
Het |
| Ovch2 |
C |
A |
7: 107,392,542 (GRCm39) |
R267L |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,447,687 (GRCm39) |
E741G |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,576,289 (GRCm39) |
T324S |
probably benign |
Het |
| Pxk |
T |
A |
14: 8,144,123 (GRCm38) |
H290Q |
probably damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,237,219 (GRCm39) |
T5N |
unknown |
Het |
| Rp9 |
G |
A |
9: 22,365,086 (GRCm39) |
Q124* |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
A |
G |
17: 45,125,459 (GRCm39) |
L19P |
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,424,764 (GRCm39) |
P473L |
unknown |
Het |
| Slc9a2 |
C |
T |
1: 40,806,987 (GRCm39) |
T758I |
probably benign |
Het |
| Spef1l |
C |
A |
7: 139,556,395 (GRCm39) |
K197N |
probably benign |
Het |
| Tas2r105 |
T |
G |
6: 131,663,951 (GRCm39) |
H159P |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,633,954 (GRCm39) |
M12K |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,667,320 (GRCm39) |
Y614C |
probably benign |
Het |
| Trpv4 |
T |
C |
5: 114,764,941 (GRCm39) |
Y691C |
probably damaging |
Het |
| Unc93a |
A |
G |
17: 13,334,488 (GRCm39) |
V337A |
probably benign |
Het |
| Usp17le |
T |
G |
7: 104,418,839 (GRCm39) |
Q101P |
probably damaging |
Het |
| Usp3 |
A |
T |
9: 66,449,793 (GRCm39) |
|
probably null |
Het |
| Zfp445 |
T |
C |
9: 122,681,092 (GRCm39) |
S950G |
possibly damaging |
Het |
| Zfp644 |
T |
G |
5: 106,784,699 (GRCm39) |
D616A |
probably damaging |
Het |
| Zfp759 |
T |
G |
13: 67,288,461 (GRCm39) |
C671G |
probably damaging |
Het |
| Zgrf1 |
G |
T |
3: 127,379,797 (GRCm39) |
C1111F |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,148,732 (GRCm39) |
S349T |
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 |
|
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 |
|
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'- TACTGGTTACGGGAGTGAGC -3'
(R):5'- GACGGGTTAATGCACTTTCACG -3'
Sequencing Primer
(F):5'- TTACGGGAGTGAGCCATGG -3'
(R):5'- CTCTCAAGTGACGTCAGT -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation