Incidental Mutation 'R4687:Crim1'
ID 353797
Institutional Source Beutler Lab
Gene Symbol Crim1
Ensembl Gene ENSMUSG00000024074
Gene Name cysteine rich transmembrane BMP regulator 1 (chordin like)
Synonyms
MMRRC Submission 041938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4687 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 78200248-78376592 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78303025 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 303 (C303F)
Ref Sequence ENSEMBL: ENSMUSP00000108117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112498]
AlphaFold Q9JLL0
Predicted Effect probably damaging
Transcript: ENSMUST00000112498
AA Change: C303F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: C303F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175238
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 8,992,153 (GRCm38) Y45N probably damaging Het
Agbl3 T C 6: 34,798,326 (GRCm38) V189A probably damaging Het
Akip1 C A 7: 109,704,986 (GRCm38) S90* probably null Het
Amn A T 12: 111,276,068 (GRCm38) D439V probably benign Het
Arhgap17 T A 7: 123,321,603 (GRCm38) D149V probably damaging Het
Atp6v0a4 A T 6: 38,092,465 (GRCm38) I76N possibly damaging Het
Atp6v1h A T 1: 5,133,085 (GRCm38) N291I probably damaging Het
Baiap2l2 G T 15: 79,259,253 (GRCm38) P462T probably damaging Het
Bves C T 10: 45,354,840 (GRCm38) probably null Het
Cabp7 T A 11: 4,739,265 (GRCm38) K127* probably null Het
Cacna1h A G 17: 25,393,910 (GRCm38) V313A possibly damaging Het
Camkk2 T C 5: 122,753,724 (GRCm38) H245R probably damaging Het
Celsr1 T A 15: 85,932,460 (GRCm38) S1761C possibly damaging Het
Cfap46 T C 7: 139,627,456 (GRCm38) E1849G possibly damaging Het
Ciz1 T C 2: 32,367,465 (GRCm38) L174P probably damaging Het
Cyp26c1 A G 19: 37,692,937 (GRCm38) Q396R probably damaging Het
Dnajc7 G A 11: 100,599,300 (GRCm38) P43L probably damaging Het
Dpf2 T C 19: 5,907,012 (GRCm38) H16R probably damaging Het
Dsp A G 13: 38,191,619 (GRCm38) T1127A probably damaging Het
Dst T C 1: 34,201,123 (GRCm38) L1525P probably damaging Het
Ehf T A 2: 103,267,126 (GRCm38) D192V probably damaging Het
Frem1 G T 4: 83,020,631 (GRCm38) N71K probably damaging Het
Furin T A 7: 80,393,447 (GRCm38) T339S probably benign Het
Gad1 T A 2: 70,600,720 (GRCm38) I569N possibly damaging Het
Gfi1 T C 5: 107,723,810 (GRCm38) K10R probably damaging Het
Gm20775 T A Y: 10,641,258 (GRCm38) noncoding transcript Homo
Gpn3 A C 5: 122,378,575 (GRCm38) D89A possibly damaging Het
Gpr18 T A 14: 121,911,678 (GRCm38) R312* probably null Het
Gsap T C 5: 21,246,971 (GRCm38) probably benign Het
H2-Ab1 C A 17: 34,264,809 (GRCm38) T48K probably damaging Het
Hmcn2 A T 2: 31,438,285 (GRCm38) N4326I probably benign Het
Igkv4-51 A C 6: 69,681,730 (GRCm38) probably benign Het
Insr T C 8: 3,161,709 (GRCm38) H1104R probably benign Het
Ipo13 A T 4: 117,901,576 (GRCm38) N697K probably benign Het
Iqcm T G 8: 75,762,989 (GRCm38) F362V probably damaging Het
Irak4 T C 15: 94,566,823 (GRCm38) S425P probably damaging Het
Jakmip2 T C 18: 43,577,412 (GRCm38) E242G possibly damaging Het
Kdm4a T C 4: 118,144,083 (GRCm38) K829R probably damaging Het
Kdr T C 5: 75,968,792 (GRCm38) N145S possibly damaging Het
Klra9 A T 6: 130,185,517 (GRCm38) D185E probably benign Het
Lcn12 T C 2: 25,493,321 (GRCm38) N15S probably benign Het
Mei4 T A 9: 81,927,317 (GRCm38) M151K probably damaging Het
Mmp3 T A 9: 7,451,223 (GRCm38) S320T probably benign Het
Mrps5 C G 2: 127,590,770 (GRCm38) A37G probably benign Het
Mttp A G 3: 138,092,735 (GRCm38) I800T possibly damaging Het
Nags A T 11: 102,148,196 (GRCm38) Q451L probably damaging Het
Nbea T C 3: 56,058,065 (GRCm38) T476A probably damaging Het
Ndufb10 T C 17: 24,722,419 (GRCm38) E145G possibly damaging Het
Neb T G 2: 52,304,035 (GRCm38) S660R possibly damaging Het
Nppb A G 4: 147,986,296 (GRCm38) K43E probably benign Het
Nup188 A T 2: 30,330,633 (GRCm38) Q906L probably benign Het
Or10k2 T A 8: 83,541,860 (GRCm38) S239T probably damaging Het
Or4c12 T C 2: 89,943,869 (GRCm38) D82G probably damaging Het
Or8c17 C A 9: 38,269,414 (GRCm38) N292K probably damaging Het
Or9s23 T C 1: 92,573,330 (GRCm38) I53T possibly damaging Het
Ovch2 T A 7: 107,796,548 (GRCm38) I88F possibly damaging Het
Palm3 A G 8: 84,029,935 (GRCm38) E692G probably benign Het
Pcsk6 T C 7: 65,983,753 (GRCm38) F578L probably damaging Het
Piezo2 A C 18: 63,069,963 (GRCm38) D1535E probably damaging Het
Ppp1r15b T C 1: 133,132,135 (GRCm38) V130A probably benign Het
Proca1 T C 11: 78,204,898 (GRCm38) Y32H probably damaging Het
Prtg T A 9: 72,890,798 (GRCm38) V682E probably damaging Het
Pyroxd1 A T 6: 142,361,868 (GRCm38) M455L probably benign Het
Rasa1 T C 13: 85,226,635 (GRCm38) D739G possibly damaging Het
Scn3a T C 2: 65,464,730 (GRCm38) I1550V possibly damaging Het
Sepsecs T C 5: 52,643,871 (GRCm38) D483G probably benign Het
Setd7 T C 3: 51,550,355 (GRCm38) D17G probably damaging Het
Sipa1l2 C T 8: 125,491,245 (GRCm38) C451Y probably damaging Het
Slc31a1 A G 4: 62,388,702 (GRCm38) Y165C probably damaging Het
Smg5 T C 3: 88,342,469 (GRCm38) F68L possibly damaging Het
Sptbn5 A G 2: 120,077,208 (GRCm38) probably benign Het
Stk3 A G 15: 35,114,565 (GRCm38) I65T probably damaging Het
Tas2r115 C T 6: 132,737,284 (GRCm38) A235T possibly damaging Het
Tenm2 C T 11: 36,049,097 (GRCm38) A1400T probably benign Het
Tet1 T A 10: 62,838,791 (GRCm38) N1169Y probably benign Het
Treml2 T A 17: 48,309,397 (GRCm38) probably null Het
Tspan11 A G 6: 127,938,235 (GRCm38) E104G probably damaging Het
Wdtc1 G A 4: 133,296,431 (GRCm38) A543V probably damaging Het
Zfp148 T A 16: 33,496,819 (GRCm38) D578E probably damaging Het
Zfp735 A T 11: 73,711,856 (GRCm38) N542I probably damaging Het
Zfp735 A T 11: 73,711,855 (GRCm38) N542Y probably damaging Het
Zfp869 T A 8: 69,708,143 (GRCm38) E65D probably benign Het
Other mutations in Crim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Crim1 APN 17 78,370,091 (GRCm38) missense probably damaging 1.00
IGL01090:Crim1 APN 17 78,347,229 (GRCm38) missense probably damaging 0.97
IGL01490:Crim1 APN 17 78,335,296 (GRCm38) missense possibly damaging 0.94
IGL01686:Crim1 APN 17 78,344,434 (GRCm38) missense probably benign 0.09
IGL01769:Crim1 APN 17 78,313,235 (GRCm38) missense probably benign 0.02
IGL02004:Crim1 APN 17 78,372,575 (GRCm38) splice site probably benign
IGL02211:Crim1 APN 17 78,355,145 (GRCm38) missense probably damaging 1.00
IGL02275:Crim1 APN 17 78,369,998 (GRCm38) missense possibly damaging 0.56
IGL02408:Crim1 APN 17 78,315,654 (GRCm38) missense possibly damaging 0.78
IGL02411:Crim1 APN 17 78,335,334 (GRCm38) nonsense probably null
IGL02453:Crim1 APN 17 78,344,484 (GRCm38) missense probably damaging 1.00
IGL02481:Crim1 APN 17 78,350,798 (GRCm38) missense probably damaging 0.98
IGL02632:Crim1 APN 17 78,372,674 (GRCm38) missense probably benign 0.08
IGL02652:Crim1 APN 17 78,315,677 (GRCm38) missense probably damaging 1.00
IGL02696:Crim1 APN 17 78,279,973 (GRCm38) missense probably damaging 0.96
IGL02811:Crim1 APN 17 78,350,701 (GRCm38) missense possibly damaging 0.62
IGL03105:Crim1 APN 17 78,315,750 (GRCm38) splice site probably benign
IGL03349:Crim1 APN 17 78,355,150 (GRCm38) nonsense probably null
bugeye UTSW 17 78,281,347 (GRCm38) missense possibly damaging 0.94
IGL03097:Crim1 UTSW 17 78,367,798 (GRCm38) missense probably benign 0.00
R0227:Crim1 UTSW 17 78,344,509 (GRCm38) splice site probably benign
R0458:Crim1 UTSW 17 78,313,226 (GRCm38) missense probably damaging 0.98
R0482:Crim1 UTSW 17 78,372,579 (GRCm38) missense probably benign 0.00
R0989:Crim1 UTSW 17 78,200,944 (GRCm38) missense probably benign 0.21
R1266:Crim1 UTSW 17 78,200,833 (GRCm38) small deletion probably benign
R1529:Crim1 UTSW 17 78,367,954 (GRCm38) missense probably benign
R1679:Crim1 UTSW 17 78,200,799 (GRCm38) missense probably benign 0.27
R1909:Crim1 UTSW 17 78,313,127 (GRCm38) missense probably benign 0.26
R2273:Crim1 UTSW 17 78,355,179 (GRCm38) critical splice donor site probably null
R3899:Crim1 UTSW 17 78,281,354 (GRCm38) missense probably benign 0.00
R3909:Crim1 UTSW 17 78,281,239 (GRCm38) splice site probably benign
R4092:Crim1 UTSW 17 78,350,836 (GRCm38) missense probably damaging 1.00
R4154:Crim1 UTSW 17 78,237,843 (GRCm38) missense probably benign 0.01
R5022:Crim1 UTSW 17 78,280,129 (GRCm38) missense possibly damaging 0.95
R5073:Crim1 UTSW 17 78,281,347 (GRCm38) missense possibly damaging 0.94
R5089:Crim1 UTSW 17 78,374,090 (GRCm38) missense probably damaging 1.00
R5284:Crim1 UTSW 17 78,313,266 (GRCm38) missense possibly damaging 0.83
R5461:Crim1 UTSW 17 78,237,807 (GRCm38) missense probably damaging 1.00
R5635:Crim1 UTSW 17 78,315,641 (GRCm38) missense probably damaging 1.00
R5686:Crim1 UTSW 17 78,374,083 (GRCm38) missense possibly damaging 0.63
R5956:Crim1 UTSW 17 78,315,717 (GRCm38) missense probably damaging 1.00
R6117:Crim1 UTSW 17 78,303,088 (GRCm38) missense probably damaging 1.00
R6129:Crim1 UTSW 17 78,281,309 (GRCm38) missense probably benign 0.17
R6265:Crim1 UTSW 17 78,370,085 (GRCm38) missense probably benign 0.01
R6812:Crim1 UTSW 17 78,315,600 (GRCm38) missense probably damaging 1.00
R6858:Crim1 UTSW 17 78,315,627 (GRCm38) missense probably damaging 1.00
R7920:Crim1 UTSW 17 78,303,064 (GRCm38) missense probably damaging 1.00
R8022:Crim1 UTSW 17 78,315,555 (GRCm38) missense possibly damaging 0.82
R8434:Crim1 UTSW 17 78,347,257 (GRCm38) missense probably benign 0.00
R8782:Crim1 UTSW 17 78,200,877 (GRCm38) missense probably damaging 1.00
R8961:Crim1 UTSW 17 78,372,688 (GRCm38) missense possibly damaging 0.65
R8971:Crim1 UTSW 17 78,345,980 (GRCm38) missense possibly damaging 0.89
R9245:Crim1 UTSW 17 78,344,442 (GRCm38) missense probably damaging 1.00
R9250:Crim1 UTSW 17 78,370,042 (GRCm38) missense probably benign
R9401:Crim1 UTSW 17 78,350,865 (GRCm38) frame shift probably null
R9402:Crim1 UTSW 17 78,350,865 (GRCm38) frame shift probably null
R9644:Crim1 UTSW 17 78,280,068 (GRCm38) missense probably damaging 1.00
R9702:Crim1 UTSW 17 78,374,087 (GRCm38) missense probably damaging 1.00
R9710:Crim1 UTSW 17 78,303,075 (GRCm38) nonsense probably null
X0064:Crim1 UTSW 17 78,200,833 (GRCm38) small deletion probably benign
Z1088:Crim1 UTSW 17 78,367,835 (GRCm38) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- TGGAGAGTTACTTACTAGCACAACC -3'
(R):5'- CAGCATGGCCCTAAGTATGC -3'

Sequencing Primer
(F):5'- GAGTTACTTACTAGCACAACCGTTCC -3'
(R):5'- ATGGCCCTAAGTATGCACCCTG -3'
Posted On 2015-10-21