Incidental Mutation 'R9245:Crim1'
ID 701265
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 # R9245 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 78507677-78684021 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78651871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 532 (C532S)
Ref Sequence ENSEMBL: ENSMUSP00000108117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112498]
AlphaFold Q9JLL0
Predicted Effect probably damaging
Transcript: ENSMUST00000112498
AA Change: C532S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: C532S

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C A 11: 77,406,312 (GRCm39) H96Q possibly damaging Het
Ankhd1 A G 18: 36,788,653 (GRCm39) Q411R Het
Ankrd34c A T 9: 89,610,940 (GRCm39) V467E probably damaging Het
Apobr A T 7: 126,186,507 (GRCm39) R673* probably null Het
Arhgap18 T C 10: 26,722,107 (GRCm39) V98A possibly damaging Het
Arhgap30 G T 1: 171,235,957 (GRCm39) W777L possibly damaging Het
Atp8a1 A G 5: 67,779,977 (GRCm39) Y1154H unknown Het
B3gntl1 A G 11: 121,514,770 (GRCm39) F299S possibly damaging Het
Baz2a C T 10: 127,957,812 (GRCm39) T1055I probably benign Het
Baz2b T C 2: 59,743,331 (GRCm39) M1547V probably benign Het
Bsn T C 9: 107,993,292 (GRCm39) D820G probably damaging Het
Castor1 T A 11: 4,170,485 (GRCm39) N160K probably damaging Het
Ccdc57 A G 11: 120,812,578 (GRCm39) Y59H probably damaging Het
Csmd2 A C 4: 128,200,168 (GRCm39) D451A Het
Cyp2d22 A T 15: 82,256,748 (GRCm39) I342K probably damaging Het
Des A T 1: 75,343,406 (GRCm39) T430S probably benign Het
Dnah17 C T 11: 118,016,503 (GRCm39) V283I probably benign Het
Dnah9 C T 11: 65,786,731 (GRCm39) G3634E probably benign Het
Dst A G 1: 34,228,943 (GRCm39) S2179G probably benign Het
Elp1 C A 4: 56,771,003 (GRCm39) R980L probably benign Het
Esrp2 T A 8: 106,858,775 (GRCm39) T621S possibly damaging Het
Ext2 C T 2: 93,534,836 (GRCm39) V643I probably benign Het
Fastk G A 5: 24,649,172 (GRCm39) P72S probably benign Het
Fbxo28 A G 1: 182,145,566 (GRCm39) I174T possibly damaging Het
Fstl3 C T 10: 79,614,411 (GRCm39) L38F probably damaging Het
Golgb1 C T 16: 36,739,181 (GRCm39) Q2548* probably null Het
Gstm3 T C 3: 107,874,956 (GRCm39) T99A probably benign Het
H2bc15 A G 13: 21,938,369 (GRCm39) D26G unknown Het
Hadh T C 3: 131,034,636 (GRCm39) N220S probably damaging Het
Hnrnpab T C 11: 51,497,240 (GRCm39) T51A probably benign Het
Immt G T 6: 71,823,350 (GRCm39) W67L probably benign Het
Ints8 T A 4: 11,213,811 (GRCm39) probably null Het
Ipo7 T C 7: 109,643,826 (GRCm39) V407A probably damaging Het
Kics2 A T 10: 121,586,273 (GRCm39) H196L probably damaging Het
Kif20b T C 19: 34,915,725 (GRCm39) S501P probably benign Het
Krt39 T G 11: 99,407,450 (GRCm39) Q348P probably damaging Het
Lrp1b T A 2: 40,488,456 (GRCm39) N4543I Het
Macrod2 T C 2: 141,652,534 (GRCm39) V199A probably benign Het
Mast2 A G 4: 116,167,701 (GRCm39) V1052A probably damaging Het
Mfap4 T C 11: 61,378,007 (GRCm39) F149S probably damaging Het
Moap1 A G 12: 102,708,526 (GRCm39) V341A unknown Het
Mprip G T 11: 59,628,403 (GRCm39) E283D possibly damaging Het
Mrgpra2a A G 7: 47,077,004 (GRCm39) F85L possibly damaging Het
Mx1 T A 16: 97,252,753 (GRCm39) probably null Het
Ndc80 A T 17: 71,807,294 (GRCm39) M554K probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Or52j3 A T 7: 102,836,194 (GRCm39) I129F probably damaging Het
Or5k1b T A 16: 58,581,126 (GRCm39) K138* probably null Het
Or6c38 T A 10: 128,929,472 (GRCm39) I124F probably damaging Het
Pck1 C T 2: 172,996,569 (GRCm39) T161I probably damaging Het
Pclo T A 5: 14,726,959 (GRCm39) M1939K unknown Het
Pcm1 T A 8: 41,732,877 (GRCm39) N711K probably damaging Het
Pkd2l1 A G 19: 44,143,894 (GRCm39) V393A probably benign Het
Pla2g15 G T 8: 106,889,539 (GRCm39) A229S possibly damaging Het
Plekhg1 G A 10: 3,907,141 (GRCm39) R741Q Het
Plod1 A G 4: 148,010,626 (GRCm39) L275P possibly damaging Het
Plvap G T 8: 71,964,323 (GRCm39) T13K possibly damaging Het
Plxna1 A T 6: 89,314,320 (GRCm39) I707N probably damaging Het
Pnma8b A G 7: 16,680,843 (GRCm39) E609G probably benign Het
Ptger4 C T 15: 5,273,193 (GRCm39) probably benign Het
Qars1 G T 9: 108,386,132 (GRCm39) E108* probably null Het
Rfpl4 C A 7: 5,113,840 (GRCm39) D114Y probably damaging Het
Rint1 A G 5: 24,010,411 (GRCm39) T207A probably benign Het
Rxfp1 A G 3: 79,552,261 (GRCm39) I680T probably benign Het
Skint2 A T 4: 112,502,616 (GRCm39) K275N probably benign Het
Slc29a3 A G 10: 60,559,755 (GRCm39) V133A possibly damaging Het
Slc9a2 A G 1: 40,805,460 (GRCm39) K680E probably benign Het
Smc1b A T 15: 85,004,846 (GRCm39) F409L probably benign Het
Sos2 A T 12: 69,695,239 (GRCm39) M166K probably damaging Het
Spata31h1 T C 10: 82,123,554 (GRCm39) D3152G probably benign Het
Tead1 A G 7: 112,358,723 (GRCm39) I12V probably benign Het
Tead3 C A 17: 28,551,709 (GRCm39) K461N probably benign Het
Tex12 C A 9: 50,468,772 (GRCm39) A83S probably damaging Het
Top6bl T G 19: 4,746,068 (GRCm39) K199Q possibly damaging Het
Ttc28 A G 5: 111,325,525 (GRCm39) T319A unknown Het
Ttn T C 2: 76,728,593 (GRCm39) I5496V unknown Het
Tubb4a T A 17: 57,387,959 (GRCm39) I356F possibly damaging Het
Txk A T 5: 72,891,610 (GRCm39) W119R probably damaging Het
Txnl4a A T 18: 80,261,937 (GRCm39) I58F probably benign Het
Uba6 A T 5: 86,318,418 (GRCm39) Y44N probably damaging Het
Usp40 T C 1: 87,878,009 (GRCm39) T1093A probably benign Het
Vmn1r194 T C 13: 22,428,731 (GRCm39) I116T probably benign Het
Vmn2r14 A G 5: 109,368,176 (GRCm39) M272T possibly damaging Het
Vmn2r85 C A 10: 130,255,033 (GRCm39) M550I possibly damaging Het
Vmn2r85 C A 10: 130,261,534 (GRCm39) V268F probably damaging Het
Vwa5b2 T A 16: 20,416,890 (GRCm39) V529E probably damaging Het
Zfp141 A T 7: 42,124,821 (GRCm39) Y550* probably null Het
Zik1 G A 7: 10,224,156 (GRCm39) L314F 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
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'- CCTGTTAACTGTGGCTGATGC -3'
(R):5'- AATCATACTACCACTGGCTCATTC -3'

Sequencing Primer
(F):5'- GCTGTGGTAGAACTGAAGTTTAACTC -3'
(R):5'- TCCAAGCGGACAAAACTT -3'
Posted On 2022-03-25