Incidental Mutation 'R6265:Crim1'
| ID |
506978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crim1
|
| Ensembl Gene |
ENSMUSG00000024074 |
| Gene Name |
cysteine rich transmembrane BMP regulator 1 |
| Synonyms |
|
| MMRRC Submission |
044438-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6265 (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 78677514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 905
(P905L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112498]
|
| AlphaFold |
Q9JLL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112498
AA Change: P905L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: P905L
| 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 |
|
| Meta Mutation Damage Score |
0.1186 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
C |
T |
4: 137,181,986 (GRCm39) |
P47L |
probably damaging |
Het |
| Acot1 |
T |
C |
12: 84,063,687 (GRCm39) |
I265T |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,482,951 (GRCm39) |
D587G |
possibly damaging |
Het |
| Anks1b |
T |
G |
10: 90,777,362 (GRCm39) |
D1117E |
probably damaging |
Het |
| Art4 |
T |
G |
6: 136,831,886 (GRCm39) |
N85T |
probably damaging |
Het |
| Asb3 |
C |
A |
11: 31,035,143 (GRCm39) |
Q462K |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,049,114 (GRCm39) |
E163K |
possibly damaging |
Het |
| Atp6v0e |
T |
C |
17: 26,895,507 (GRCm39) |
V20A |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,505,943 (GRCm39) |
Q520* |
probably null |
Het |
| Baat |
A |
T |
4: 49,502,836 (GRCm39) |
D95E |
possibly damaging |
Het |
| Cars2 |
TCCCC |
TCCC |
8: 11,579,599 (GRCm39) |
|
probably null |
Het |
| Ccdc24 |
G |
A |
4: 117,728,374 (GRCm39) |
Q47* |
probably null |
Het |
| Cep170b |
C |
A |
12: 112,710,993 (GRCm39) |
Q1488K |
probably damaging |
Het |
| Cldn24 |
A |
C |
8: 48,275,374 (GRCm39) |
D66A |
probably benign |
Het |
| Cln5 |
C |
A |
14: 103,310,663 (GRCm39) |
T110K |
probably damaging |
Het |
| Clvs2 |
C |
A |
10: 33,404,511 (GRCm39) |
S235I |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,705,060 (GRCm39) |
G730R |
unknown |
Het |
| Cxxc4 |
T |
C |
3: 133,963,824 (GRCm39) |
V356A |
probably benign |
Het |
| Dctn6 |
G |
T |
8: 34,562,057 (GRCm39) |
N93K |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 66,058,920 (GRCm39) |
A125V |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,342,577 (GRCm39) |
I1307T |
probably benign |
Het |
| Dpy19l1 |
T |
A |
9: 24,343,667 (GRCm39) |
I493F |
possibly damaging |
Het |
| Ebf2 |
A |
G |
14: 67,661,509 (GRCm39) |
I546V |
probably benign |
Het |
| Fbll1 |
T |
C |
11: 35,688,636 (GRCm39) |
E209G |
probably damaging |
Het |
| Foxj2 |
G |
A |
6: 122,805,133 (GRCm39) |
A2T |
probably damaging |
Het |
| Foxs1 |
A |
T |
2: 152,774,098 (GRCm39) |
C318* |
probably null |
Het |
| Gorab |
T |
C |
1: 163,214,199 (GRCm39) |
T244A |
possibly damaging |
Het |
| Gtsf1l |
C |
A |
2: 162,929,583 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,279,298 (GRCm39) |
S69P |
probably benign |
Het |
| Hpca |
C |
T |
4: 129,012,445 (GRCm39) |
W30* |
probably null |
Het |
| Ing3 |
C |
A |
6: 21,953,813 (GRCm39) |
Q85K |
probably damaging |
Het |
| Klhdc8b |
T |
C |
9: 108,325,624 (GRCm39) |
E264G |
probably damaging |
Het |
| Lair1 |
T |
A |
7: 4,058,826 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,057,650 (GRCm39) |
Y575H |
probably damaging |
Het |
| Lamtor2 |
C |
A |
3: 88,458,020 (GRCm39) |
G29* |
probably null |
Het |
| Loxhd1 |
A |
T |
18: 77,449,426 (GRCm39) |
D341V |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,296,684 (GRCm39) |
D3290V |
probably damaging |
Het |
| Matn2 |
A |
T |
15: 34,399,301 (GRCm39) |
D396V |
probably damaging |
Het |
| Me3 |
T |
A |
7: 89,498,951 (GRCm39) |
D510E |
probably benign |
Het |
| Melk |
A |
G |
4: 44,318,109 (GRCm39) |
Y170C |
probably damaging |
Het |
| Mgat2 |
T |
C |
12: 69,231,567 (GRCm39) |
V47A |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,278,049 (GRCm39) |
I631T |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,710,511 (GRCm39) |
|
probably null |
Het |
| Myo7b |
A |
T |
18: 32,131,203 (GRCm39) |
D521E |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,796,608 (GRCm39) |
F986I |
probably benign |
Het |
| Or8k39 |
A |
G |
2: 86,563,299 (GRCm39) |
L219P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,357,804 (GRCm39) |
D690G |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,184,954 (GRCm39) |
S5P |
probably damaging |
Het |
| Reep4 |
A |
T |
14: 70,785,143 (GRCm39) |
S150C |
probably damaging |
Het |
| Slc25a21 |
T |
C |
12: 57,243,685 (GRCm39) |
R14G |
probably benign |
Het |
| Slc6a6 |
G |
C |
6: 91,731,896 (GRCm39) |
R575T |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,383,323 (GRCm39) |
Y886* |
probably null |
Het |
| Tas2r103 |
A |
C |
6: 133,013,494 (GRCm39) |
F191V |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 53,995,266 (GRCm39) |
D145G |
probably benign |
Het |
| Tex47 |
T |
A |
5: 7,355,461 (GRCm39) |
I214N |
probably damaging |
Het |
| Tnnt3 |
A |
T |
7: 142,055,382 (GRCm39) |
D3V |
probably damaging |
Het |
| Trdv2-1 |
T |
G |
14: 54,183,842 (GRCm39) |
S24A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,179,951 (GRCm39) |
D3377G |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,361,665 (GRCm39) |
D147V |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,446,843 (GRCm39) |
D103E |
probably benign |
Homo |
| Vmn1r168 |
A |
G |
7: 23,240,961 (GRCm39) |
I273V |
probably benign |
Het |
| Vmn2r61 |
T |
C |
7: 41,915,915 (GRCm39) |
I176T |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,956,463 (GRCm39) |
D53V |
probably benign |
Het |
| Zbtb8os |
A |
T |
4: 129,229,775 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
C |
T |
7: 12,149,339 (GRCm39) |
R690Q |
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 |
|
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'- GGCCCTGATTGGATAGAGTAC -3'
(R):5'- CAAGGCACATTTACCCAGTGC -3'
Sequencing Primer
(F):5'- GCCCTGATTGGATAGAGTACATTAAC -3'
(R):5'- CAGATCACAAGACAGGACAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation