Incidental Mutation 'R9401:Crim1'
ID 711256
Institutional Source Beutler Lab
Gene Symbol Crim1
Ensembl Gene ENSMUSG00000024074
Gene Name cysteine rich transmembrane BMP regulator 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9401 (G1)
Quality Score 217.468
Status Not validated
Chromosome 17
Chromosomal Location 78507677-78684021 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CCGC to CC at 78658294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112498]
AlphaFold Q9JLL0
Predicted Effect probably null
Transcript: ENSMUST00000112498
SMART Domains Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,780,785 (GRCm39) D850G probably benign Het
Abcc9 T A 6: 142,543,836 (GRCm39) T1480S possibly damaging Het
Adgrb3 C A 1: 25,592,783 (GRCm39) V335F probably damaging Het
Agfg1 C A 1: 82,859,958 (GRCm39) A275D probably benign Het
Alms1 T A 6: 85,655,001 (GRCm39) C2713* probably null Het
Atp8a1 G A 5: 67,906,492 (GRCm39) A474V Het
Baz1a C A 12: 54,963,339 (GRCm39) S918I probably damaging Het
Bcl2l12 G T 7: 44,643,674 (GRCm39) T120K possibly damaging Het
Bcl6 G T 16: 23,791,107 (GRCm39) Q416K possibly damaging Het
Cdhr1 T A 14: 36,820,055 (GRCm39) I16F probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cilp T C 9: 65,185,381 (GRCm39) V492A probably damaging Het
Crppa T C 12: 36,552,073 (GRCm39) V309A probably benign Het
Ctcfl T G 2: 172,947,881 (GRCm39) T479P probably damaging Het
Dlx6 A C 6: 6,863,581 (GRCm39) M68L probably benign Het
Dnah7a C A 1: 53,568,026 (GRCm39) V1857F probably benign Het
Dpy19l4 A G 4: 11,265,806 (GRCm39) V714A probably benign Het
Elovl7 T A 13: 108,419,188 (GRCm39) N273K probably benign Het
Fbxo22 A G 9: 55,130,628 (GRCm39) K299R probably benign Het
Fig4 A G 10: 41,143,733 (GRCm39) V242A probably benign Het
Fmo9 A T 1: 166,505,189 (GRCm39) M68K probably damaging Het
Fry T A 5: 150,302,403 (GRCm39) Y537N probably damaging Het
Fryl C T 5: 73,222,563 (GRCm39) W2006* probably null Het
Fzd8 T A 18: 9,213,205 (GRCm39) C96S possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gspt1 T C 16: 11,050,535 (GRCm39) D272G possibly damaging Het
Gzmf A T 14: 56,448,813 (GRCm39) M1K probably null Het
Hipk1 T C 3: 103,685,295 (GRCm39) T107A probably benign Het
Hsd3b9 T G 3: 98,363,819 (GRCm39) T9P probably damaging Het
Ighe C T 12: 113,233,107 (GRCm39) C438Y Het
Igkv4-50 T A 6: 69,677,967 (GRCm39) R46W Het
Igsf3 T A 3: 101,333,075 (GRCm39) Y118N probably damaging Het
Itsn1 T A 16: 91,612,408 (GRCm39) Y266N probably damaging Het
Jph3 A G 8: 122,511,854 (GRCm39) E614G probably damaging Het
Klk1b8 T A 7: 43,603,674 (GRCm39) D170E probably benign Het
Ly6e A T 15: 74,830,153 (GRCm39) K36* probably null Het
Map3k6 C A 4: 132,968,467 (GRCm39) A23E probably damaging Het
Med13l T A 5: 118,883,089 (GRCm39) M1316K probably benign Het
Or5c1 T C 2: 37,222,293 (GRCm39) V178A possibly damaging Het
Or6c76b A G 10: 129,693,298 (GRCm39) R304G probably benign Het
Or8u3-ps A T 2: 85,952,368 (GRCm39) I34F possibly damaging Het
Pih1d2 T A 9: 50,529,905 (GRCm39) C45S probably damaging Het
Pik3r2 G A 8: 71,223,737 (GRCm39) S318L possibly damaging Het
Pknox1 T C 17: 31,802,752 (GRCm39) I9T probably benign Het
Pknox2 T C 9: 36,835,041 (GRCm39) I143V probably damaging Het
Polr1d A G 5: 147,015,488 (GRCm39) Y57C probably damaging Het
Pum3 A T 19: 27,376,336 (GRCm39) D527E probably benign Het
Rars2 T A 4: 34,654,819 (GRCm39) H374Q probably damaging Het
Rassf9 G A 10: 102,348,369 (GRCm39) probably benign Het
Rbl1 T A 2: 157,016,742 (GRCm39) H619L possibly damaging Het
Scamp4 T C 10: 80,448,238 (GRCm39) V153A probably benign Het
Sec23b T G 2: 144,420,286 (GRCm39) I450S probably benign Het
Slc35b2 A G 17: 45,877,910 (GRCm39) I297V probably benign Het
Slc4a4 C T 5: 89,327,525 (GRCm39) T654I probably damaging Het
Slc6a5 T A 7: 49,601,185 (GRCm39) M662K probably damaging Het
Smarcad1 T C 6: 65,071,321 (GRCm39) Y589H probably benign Het
Spata31d1e T C 13: 59,890,012 (GRCm39) T603A probably benign Het
Stab1 A T 14: 30,883,069 (GRCm39) F374I probably benign Het
Stat5a C T 11: 100,756,254 (GRCm39) T158M possibly damaging Het
Trpc3 A T 3: 36,675,503 (GRCm39) Y878* probably null Het
Ubr1 T A 2: 120,765,765 (GRCm39) T491S probably benign Het
Uggt1 C T 1: 36,255,212 (GRCm39) probably null Het
Ugt1a6a T A 1: 88,066,882 (GRCm39) Y229* probably null Het
Vmn1r225 G A 17: 20,722,911 (GRCm39) W117* probably null Het
Vmn1r225 A C 17: 20,722,912 (GRCm39) K118Q probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r116 T C 17: 23,620,566 (GRCm39) S767P probably damaging Het
Wdr90 AGAC AGACGAC 17: 26,064,750 (GRCm39) probably benign Het
Ythdf3 C T 3: 16,258,659 (GRCm39) P280S probably damaging Het
Zbbx A G 3: 75,019,390 (GRCm39) S107P probably benign Het
Zdhhc7 A T 8: 120,813,425 (GRCm39) V128E probably benign Het
Zfp235 A G 7: 23,841,551 (GRCm39) S657G probably damaging Het
Zfp442 T A 2: 150,251,615 (GRCm39) I96F possibly damaging Het
Zfp84 G A 7: 29,476,297 (GRCm39) E330K probably 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
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
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'- CAGATGACTTTGTAGTGCAGAAGC -3'
(R):5'- CACGCTCGTTGGCTGTATTATG -3'

Sequencing Primer
(F):5'- CTTTGTAGTGCAGAAGCCGGAG -3'
(R):5'- TGGGTGATCACAGGGAATAGACTG -3'
Posted On 2022-05-16