Incidental Mutation 'IGL02211:Crim1'
ID 284726
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 # IGL02211
Quality Score
Status
Chromosome 17
Chromosomal Location 78200248-78376592 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78355145 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 799 (L799S)
Ref Sequence ENSEMBL: ENSMUSP00000108117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112498]
AlphaFold Q9JLL0
Predicted Effect probably damaging
Transcript: ENSMUST00000112498
AA Change: L799S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108117
Gene: ENSMUSG00000024074
AA Change: L799S

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoc3 C A 9: 46,233,215 probably benign Het
Atp8a2 C T 14: 60,027,976 G304R probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cct4 A G 11: 22,993,327 probably benign Het
Cd28 T C 1: 60,762,994 V24A probably damaging Het
Cfap70 T C 14: 20,394,972 N1080S probably damaging Het
Cpa6 A T 1: 10,595,636 I59K possibly damaging Het
Cramp1l A G 17: 24,977,636 S835P possibly damaging Het
Cxcl16 T C 11: 70,456,032 H95R possibly damaging Het
Dip2c T A 13: 9,610,847 C915S probably damaging Het
Dytn T A 1: 63,674,930 N137Y possibly damaging Het
Exoc5 T A 14: 49,014,210 Q628L probably damaging Het
Flii A G 11: 60,718,298 probably benign Het
Hnrnph3 A T 10: 63,017,342 probably benign Het
Iqsec1 A G 6: 90,671,609 L830P probably damaging Het
Kank1 G T 19: 25,430,338 G1232V probably damaging Het
Kcnmb2 A G 3: 32,198,334 E228G probably damaging Het
Limk1 A T 5: 134,657,637 V538E probably damaging Het
Mmp20 T A 9: 7,655,070 I393K probably damaging Het
Mtmr1 A G X: 71,412,257 D574G possibly damaging Het
Nr1h2 A C 7: 44,550,460 M345R probably damaging Het
Nyap1 T C 5: 137,739,675 H15R probably damaging Het
Olfr316 G T 11: 58,758,370 S235I possibly damaging Het
Olfr652 A T 7: 104,565,126 K302* probably null Het
Pde4b T G 4: 102,590,822 probably benign Het
Pgrmc2 A G 3: 41,082,633 V121A probably damaging Het
Ptges3 T C 10: 128,076,058 probably benign Het
Ranbp2 T C 10: 58,478,242 S1595P probably benign Het
Rhbdf2 A G 11: 116,600,435 F625L possibly damaging Het
Rhpn1 T C 15: 75,711,056 S281P possibly damaging Het
Samd3 G T 10: 26,233,557 G128W probably damaging Het
Sept5 T C 16: 18,624,879 K51E probably damaging Het
Serpina7 G A X: 139,081,313 T185I probably damaging Het
Slc25a25 A G 2: 32,417,440 V303A probably damaging Het
Slc5a4b A T 10: 76,060,463 probably benign Het
Srpk3 A T X: 73,775,148 H114L probably benign Het
Sybu T G 15: 44,673,466 Q360P probably damaging Het
Vmn1r179 A T 7: 23,929,205 I274F probably benign Het
Wdsub1 G T 2: 59,858,736 R381S probably damaging Het
Wscd1 G A 11: 71,788,975 R558H 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
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
IGL03105:Crim1 APN 17 78315750 splice site probably benign
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 2015-04-16