Incidental Mutation 'R3899:Crim1'
ID 308907
Institutional Source Beutler Lab
Gene Symbol Crim1
Ensembl Gene ENSMUSG00000024074
Gene Name cysteine rich transmembrane BMP regulator 1
Synonyms
MMRRC Submission 040809-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3899 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 78507677-78684021 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78588783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 286 (T286N)
Ref Sequence ENSEMBL: ENSMUSP00000108117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112498]
AlphaFold Q9JLL0
Predicted Effect probably benign
Transcript: ENSMUST00000112498
AA Change: T286N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: T286N

DomainStartEndE-ValueType
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 0.1120 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (62/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 A G 2: 155,399,157 (GRCm39) probably benign Het
Ahctf1 A G 1: 179,605,345 (GRCm39) S730P possibly damaging Het
Ankrd26 T A 6: 118,526,389 (GRCm39) R327S probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Apob A T 12: 8,065,849 (GRCm39) I4273F possibly damaging Het
Ascl1 G T 10: 87,328,435 (GRCm39) H172Q probably benign Het
Azi2 A G 9: 117,876,571 (GRCm39) Y29C probably damaging Het
Baz1a A G 12: 54,981,589 (GRCm39) M355T probably benign Het
Brs3 G A X: 56,092,616 (GRCm39) V367M possibly damaging Het
Ccdc33 T C 9: 57,940,200 (GRCm39) D524G probably damaging Het
Cd300lf T C 11: 115,015,177 (GRCm39) T138A probably damaging Het
Cemip2 A G 19: 21,829,598 (GRCm39) T1236A probably benign Het
Ces1g T C 8: 94,029,678 (GRCm39) Y518C probably damaging Het
Chek2 C T 5: 111,013,479 (GRCm39) probably benign Het
Cherp A G 8: 73,223,780 (GRCm39) I201T possibly damaging Het
Cntnap2 A T 6: 45,968,837 (GRCm39) H193L probably benign Het
Cwc27 T A 13: 104,929,023 (GRCm39) K307* probably null Het
Dbx2 T C 15: 95,530,313 (GRCm39) D218G possibly damaging Het
Dclk1 G A 3: 55,154,750 (GRCm39) R60Q probably damaging Het
Dnah17 A T 11: 117,985,634 (GRCm39) I1481N possibly damaging Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dpp10 A T 1: 123,281,286 (GRCm39) W588R probably damaging Het
Epg5 G A 18: 78,000,725 (GRCm39) E554K probably damaging Het
Eya1 T C 1: 14,340,971 (GRCm39) T139A probably benign Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Foxd3 A G 4: 99,545,736 (GRCm39) Y292C unknown Het
Gli1 C T 10: 127,172,535 (GRCm39) M202I possibly damaging Het
Gm973 T C 1: 59,664,299 (GRCm39) Y634H probably benign Het
Gpr132 G T 12: 112,815,728 (GRCm39) A366E probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 C T 15: 65,902,372 (GRCm39) M201I probably benign Het
Khdc3 T C 9: 73,011,628 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,388,372 (GRCm39) V2351A unknown Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Mtr A T 13: 12,231,735 (GRCm39) N656K probably benign Het
Mtus1 T C 8: 41,536,166 (GRCm39) T517A probably benign Het
Osgep G C 14: 51,162,200 (GRCm39) N12K probably damaging Het
Pcare A T 17: 72,057,155 (GRCm39) C841S probably benign Het
Prdx3 T A 19: 60,853,621 (GRCm39) T235S probably benign Het
Rasa3 G A 8: 13,628,635 (GRCm39) H608Y probably benign Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Setd2 C T 9: 110,421,586 (GRCm39) R273W probably damaging Het
Slc24a1 A T 9: 64,835,426 (GRCm39) S900R probably damaging Het
Slc30a5 T C 13: 100,954,655 (GRCm39) M170V probably benign Het
Slc4a9 T C 18: 36,668,616 (GRCm39) V732A probably benign Het
Slc7a2 C T 8: 41,358,590 (GRCm39) T311M possibly damaging Het
Smarcc1 T C 9: 109,947,586 (GRCm39) probably benign Het
Stk32b A G 5: 37,614,498 (GRCm39) S337P probably damaging Het
Thop1 G A 10: 80,916,278 (GRCm39) G429S probably damaging Het
Timp2 C T 11: 118,194,542 (GRCm39) D139N probably damaging Het
Tmem45a T C 16: 56,627,101 (GRCm39) E256G probably damaging Het
Tox4 T A 14: 52,517,299 (GRCm39) Y10N probably damaging Het
Trpm3 A G 19: 22,878,524 (GRCm39) M642V possibly damaging Het
Ttll10 T C 4: 156,120,257 (GRCm39) T508A probably damaging Het
Tut7 T A 13: 59,937,069 (GRCm39) K791* probably null Het
Ubash3b C T 9: 40,942,860 (GRCm39) D211N probably benign Het
Usp36 T A 11: 118,170,650 (GRCm39) D28V possibly damaging Het
Vmn2r97 T C 17: 19,167,873 (GRCm39) I709T probably damaging Het
Zfp936 T A 7: 42,839,158 (GRCm39) N207K possibly damaging Het
Zfp946 T G 17: 22,673,531 (GRCm39) I95S probably benign Het
Zhx3 A T 2: 160,622,371 (GRCm39) S599T possibly damaging Het
Other mutations in Crim1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GCTGCACACTTGTCAAGAGTC -3'
(R):5'- CATGACACTTGGCTTTGATGTGAG -3'

Sequencing Primer
(F):5'- GCACACTTGTCAAGAGTCGTTATATC -3'
(R):5'- GCTTTGATGTGAGGAGAGACATATG -3'
Posted On 2015-04-17