Incidental Mutation 'IGL03105:Crim1'
ID 418944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crim1
Ensembl Gene ENSMUSG00000024074
Gene Name cysteine rich transmembrane BMP regulator 1 (chordin like)
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03105
Quality Score
Status
Chromosome 17
Chromosomal Location 78200248-78376592 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 78315750 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112498]
AlphaFold Q9JLL0
Predicted Effect probably benign
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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adssl1 A G 12: 112,632,721 I129V probably benign Het
Ankrd35 A G 3: 96,684,057 H553R probably benign Het
Brca2 A G 5: 150,560,485 K2923R probably benign Het
Cadm3 A T 1: 173,345,016 L174M probably damaging Het
Car10 T C 11: 93,100,275 V17A probably benign Het
Cep290 A G 10: 100,551,824 K1956E possibly damaging Het
Cfhr1 T A 1: 139,547,827 probably benign Het
Dedd G A 1: 171,340,918 R224H probably damaging Het
F7 A T 8: 13,034,001 I229L probably null Het
Fam208a T A 14: 27,442,552 C272S probably damaging Het
Igkv17-121 A T 6: 68,037,300 Q112L probably damaging Het
Kcnk13 G A 12: 100,061,110 R148Q probably damaging Het
Klk13 T C 7: 43,721,480 L51P probably benign Het
Ldb2 A G 5: 44,799,373 S41P possibly damaging Het
Magi2 A G 5: 20,543,618 D767G probably damaging Het
Mical3 T C 6: 121,042,238 T8A probably benign Het
Mkln1 G T 6: 31,459,059 E318* probably null Het
Mx1 C T 16: 97,456,354 V68I possibly damaging Het
Mylk2 T C 2: 152,917,359 V350A possibly damaging Het
Nav2 T A 7: 49,464,879 S870R probably damaging Het
Olfr19 T C 16: 16,673,526 T152A probably benign Het
Olfr66 A G 7: 103,882,132 I37T possibly damaging Het
Olfr668 A T 7: 104,925,764 probably benign Het
Olfr828 T C 9: 18,815,389 R302G probably benign Het
Onecut2 A T 18: 64,341,508 K358* probably null Het
Orai3 A G 7: 127,773,553 probably benign Het
Ppp1r32 A G 19: 10,477,020 probably benign Het
Rad54b A G 4: 11,615,569 N859S probably benign Het
Sec23b C T 2: 144,582,020 R530W probably damaging Het
Slc25a35 T C 11: 68,968,670 F3S probably damaging Het
Slc7a11 A T 3: 50,372,339 I491K possibly damaging Het
Srrt A T 5: 137,299,844 N317K possibly damaging Het
Sspo T C 6: 48,473,658 probably benign Het
Taf2 A C 15: 55,045,799 D683E probably benign Het
Tcerg1l G T 7: 138,248,444 probably benign Het
Tg G T 15: 66,715,106 V1578F probably benign Het
Tmem43 G A 6: 91,480,700 G188D probably damaging Het
Tnfrsf8 T C 4: 145,298,784 Y73C probably damaging Het
Ttc21a A G 9: 119,942,576 Y147C probably benign Het
Ttn T A 2: 76,812,177 D11592V probably damaging Het
Ttn T C 2: 76,778,050 D17843G probably damaging Het
Tubgcp5 T A 7: 55,825,581 I842N probably damaging Het
Unc80 A T 1: 66,472,099 T89S probably damaging Het
Usp28 T C 9: 49,039,055 M928T probably damaging Het
Usp43 A G 11: 67,879,976 S611P possibly damaging Het
Utp20 A G 10: 88,791,096 V1000A probably benign Het
Zfp263 T C 16: 3,748,960 C380R probably damaging Het
Zfyve1 A C 12: 83,558,639 C14G probably damaging Het
Other mutations in Crim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Crim1 APN 17 78370091 missense probably damaging 1.00
IGL01090:Crim1 APN 17 78347229 missense probably damaging 0.97
IGL01490:Crim1 APN 17 78335296 missense possibly damaging 0.94
IGL01686:Crim1 APN 17 78344434 missense probably benign 0.09
IGL01769:Crim1 APN 17 78313235 missense probably benign 0.02
IGL02004:Crim1 APN 17 78372575 splice site probably benign
IGL02211:Crim1 APN 17 78355145 missense probably damaging 1.00
IGL02275:Crim1 APN 17 78369998 missense possibly damaging 0.56
IGL02408:Crim1 APN 17 78315654 missense possibly damaging 0.78
IGL02411:Crim1 APN 17 78335334 nonsense probably null
IGL02453:Crim1 APN 17 78344484 missense probably damaging 1.00
IGL02481:Crim1 APN 17 78350798 missense probably damaging 0.98
IGL02632:Crim1 APN 17 78372674 missense probably benign 0.08
IGL02652:Crim1 APN 17 78315677 missense probably damaging 1.00
IGL02696:Crim1 APN 17 78279973 missense probably damaging 0.96
IGL02811:Crim1 APN 17 78350701 missense possibly damaging 0.62
IGL03349:Crim1 APN 17 78355150 nonsense probably null
bugeye UTSW 17 78281347 missense possibly damaging 0.94
IGL03097:Crim1 UTSW 17 78367798 missense probably benign 0.00
R0227:Crim1 UTSW 17 78344509 splice site probably benign
R0458:Crim1 UTSW 17 78313226 missense probably damaging 0.98
R0482:Crim1 UTSW 17 78372579 missense probably benign 0.00
R0989:Crim1 UTSW 17 78200944 missense probably benign 0.21
R1266:Crim1 UTSW 17 78200833 small deletion probably benign
R1529:Crim1 UTSW 17 78367954 missense probably benign
R1679:Crim1 UTSW 17 78200799 missense probably benign 0.27
R1909:Crim1 UTSW 17 78313127 missense probably benign 0.26
R2273:Crim1 UTSW 17 78355179 critical splice donor site probably null
R3899:Crim1 UTSW 17 78281354 missense probably benign 0.00
R3909:Crim1 UTSW 17 78281239 splice site probably benign
R4092:Crim1 UTSW 17 78350836 missense probably damaging 1.00
R4154:Crim1 UTSW 17 78237843 missense probably benign 0.01
R4687:Crim1 UTSW 17 78303025 missense probably damaging 1.00
R5022:Crim1 UTSW 17 78280129 missense possibly damaging 0.95
R5073:Crim1 UTSW 17 78281347 missense possibly damaging 0.94
R5089:Crim1 UTSW 17 78374090 missense probably damaging 1.00
R5284:Crim1 UTSW 17 78313266 missense possibly damaging 0.83
R5461:Crim1 UTSW 17 78237807 missense probably damaging 1.00
R5635:Crim1 UTSW 17 78315641 missense probably damaging 1.00
R5686:Crim1 UTSW 17 78374083 missense possibly damaging 0.63
R5956:Crim1 UTSW 17 78315717 missense probably damaging 1.00
R6117:Crim1 UTSW 17 78303088 missense probably damaging 1.00
R6129:Crim1 UTSW 17 78281309 missense probably benign 0.17
R6265:Crim1 UTSW 17 78370085 missense probably benign 0.01
R6812:Crim1 UTSW 17 78315600 missense probably damaging 1.00
R6858:Crim1 UTSW 17 78315627 missense probably damaging 1.00
R7920:Crim1 UTSW 17 78303064 missense probably damaging 1.00
R8022:Crim1 UTSW 17 78315555 missense possibly damaging 0.82
R8434:Crim1 UTSW 17 78347257 missense probably benign 0.00
R8782:Crim1 UTSW 17 78200877 missense probably damaging 1.00
R8961:Crim1 UTSW 17 78372688 missense possibly damaging 0.65
R8971:Crim1 UTSW 17 78345980 missense possibly damaging 0.89
R9245:Crim1 UTSW 17 78344442 missense probably damaging 1.00
R9250:Crim1 UTSW 17 78370042 missense probably benign
R9401:Crim1 UTSW 17 78350865 frame shift probably null
R9402:Crim1 UTSW 17 78350865 frame shift probably null
R9644:Crim1 UTSW 17 78280068 missense probably damaging 1.00
R9702:Crim1 UTSW 17 78374087 missense probably damaging 1.00
R9710:Crim1 UTSW 17 78303075 nonsense probably null
X0064:Crim1 UTSW 17 78200833 small deletion probably benign
Z1088:Crim1 UTSW 17 78367835 missense probably benign 0.31
Posted On 2016-08-02