Incidental Mutation 'IGL02230:Vit'
ID 285657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vit
Ensembl Gene ENSMUSG00000024076
Gene Name vitrin
Synonyms 1700052E02Rik, 1700110E08Rik, AKH, akhirin, 2810429K11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02230
Quality Score
Status
Chromosome 17
Chromosomal Location 78815493-78934837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78927056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 334 (K334E)
Ref Sequence ENSEMBL: ENSMUSP00000024880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024880]
AlphaFold Q8VHI5
Predicted Effect probably damaging
Transcript: ENSMUST00000024880
AA Change: K334E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
AA Change: K334E

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LCCL 42 124 2.5e-45 SMART
low complexity region 148 171 N/A INTRINSIC
VWA 263 451 7.34e-39 SMART
VWA 465 641 1.02e-46 SMART
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 an extracellular matrix (ECM) protein. The protein may be associated with cell adhesion and migration. High levels of expression of the protein in specific parts of the brain suggest its likely role in neural development. [provided by RefSeq, Jun 2016]
PHENOTYPE: Embryos homozygous for a knock-out allele show decreased spinal cord size associated with reduced cell proliferation and altered cell differentiation in the central canal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,218,604 (GRCm39) T727S probably benign Het
Cyp4a12b A T 4: 115,291,193 (GRCm39) I374F probably damaging Het
Ecel1 T C 1: 87,079,916 (GRCm39) N399S probably damaging Het
Fpr-rs3 T C 17: 20,844,190 (GRCm39) E317G probably damaging Het
Gm10030 T A 9: 110,835,458 (GRCm39) noncoding transcript Het
Gm4884 A T 7: 40,692,829 (GRCm39) Q266L probably damaging Het
Gpr45 C A 1: 43,071,816 (GRCm39) A153E probably damaging Het
Hc A G 2: 34,903,682 (GRCm39) F991L probably benign Het
Hif1a T G 12: 73,979,224 (GRCm39) D249E probably damaging Het
Hsd17b12 A G 2: 93,875,743 (GRCm39) L194P possibly damaging Het
Hspg2 T C 4: 137,245,956 (GRCm39) S947P probably damaging Het
Kng1 G T 16: 22,879,244 (GRCm39) probably null Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc4 T A 6: 28,830,879 (GRCm39) K245N probably damaging Het
Mdga2 G A 12: 66,702,197 (GRCm39) R335* probably null Het
Naa16 A T 14: 79,614,801 (GRCm39) probably benign Het
Ncbp1 C A 4: 46,165,272 (GRCm39) N528K probably benign Het
Or10a2 A G 7: 106,673,700 (GRCm39) I222V probably damaging Het
Or7a41 T A 10: 78,870,876 (GRCm39) M82K probably damaging Het
Pipox A G 11: 77,772,032 (GRCm39) L364P probably damaging Het
R3hdm4 C A 10: 79,747,925 (GRCm39) A206S probably damaging Het
Rasgrf2 A G 13: 92,136,145 (GRCm39) I589T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sdr16c5 T C 4: 4,016,354 (GRCm39) E24G probably damaging Het
Sec24a T C 11: 51,599,861 (GRCm39) I815V possibly damaging Het
Serpina16 A G 12: 103,641,561 (GRCm39) Y55H probably damaging Het
Sirt2 C T 7: 28,478,371 (GRCm39) R83C probably damaging Het
Sntg1 A T 1: 8,752,195 (GRCm39) probably null Het
Stmn1 A G 4: 134,200,224 (GRCm39) E99G probably damaging Het
Tas2r103 T C 6: 133,014,019 (GRCm39) I16V possibly damaging Het
Washc4 T C 10: 83,417,233 (GRCm39) I876T probably benign Het
Wrn A T 8: 33,807,591 (GRCm39) V289D probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Vit
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Vit APN 17 78,909,336 (GRCm39) critical splice donor site probably null
IGL00929:Vit APN 17 78,886,830 (GRCm39) missense probably damaging 0.98
IGL01447:Vit APN 17 78,932,633 (GRCm39) missense probably damaging 1.00
IGL02000:Vit APN 17 78,912,915 (GRCm39) missense possibly damaging 0.94
IGL02245:Vit APN 17 78,932,480 (GRCm39) missense probably damaging 1.00
IGL02315:Vit APN 17 78,930,087 (GRCm39) missense possibly damaging 0.80
IGL03133:Vit APN 17 78,873,500 (GRCm39) missense probably benign
R0025:Vit UTSW 17 78,907,264 (GRCm39) missense probably benign 0.00
R0025:Vit UTSW 17 78,907,264 (GRCm39) missense probably benign 0.00
R0520:Vit UTSW 17 78,932,588 (GRCm39) missense probably damaging 1.00
R0550:Vit UTSW 17 78,932,222 (GRCm39) missense possibly damaging 0.95
R0565:Vit UTSW 17 78,932,266 (GRCm39) missense probably damaging 1.00
R0856:Vit UTSW 17 78,927,086 (GRCm39) missense possibly damaging 0.53
R1155:Vit UTSW 17 78,873,456 (GRCm39) missense probably damaging 1.00
R1327:Vit UTSW 17 78,932,629 (GRCm39) missense probably damaging 1.00
R1690:Vit UTSW 17 78,932,294 (GRCm39) missense probably damaging 1.00
R1802:Vit UTSW 17 78,912,940 (GRCm39) missense possibly damaging 0.91
R1822:Vit UTSW 17 78,930,265 (GRCm39) missense probably benign 0.01
R1826:Vit UTSW 17 78,842,105 (GRCm39) missense probably benign 0.22
R1827:Vit UTSW 17 78,853,875 (GRCm39) critical splice donor site probably null
R1862:Vit UTSW 17 78,930,175 (GRCm39) missense probably damaging 1.00
R2235:Vit UTSW 17 78,912,867 (GRCm39) missense probably benign 0.01
R2571:Vit UTSW 17 78,894,174 (GRCm39) missense probably benign
R4011:Vit UTSW 17 78,842,121 (GRCm39) splice site probably benign
R4190:Vit UTSW 17 78,894,255 (GRCm39) missense probably benign 0.13
R4191:Vit UTSW 17 78,894,255 (GRCm39) missense probably benign 0.13
R4192:Vit UTSW 17 78,894,255 (GRCm39) missense probably benign 0.13
R4193:Vit UTSW 17 78,894,255 (GRCm39) missense probably benign 0.13
R4635:Vit UTSW 17 78,881,641 (GRCm39) missense probably benign 0.01
R4705:Vit UTSW 17 78,932,543 (GRCm39) missense probably damaging 1.00
R4841:Vit UTSW 17 78,909,308 (GRCm39) missense probably benign
R4842:Vit UTSW 17 78,909,308 (GRCm39) missense probably benign
R4884:Vit UTSW 17 78,932,182 (GRCm39) missense probably damaging 0.99
R4923:Vit UTSW 17 78,894,270 (GRCm39) missense probably benign 0.03
R5128:Vit UTSW 17 78,932,575 (GRCm39) missense probably damaging 1.00
R5272:Vit UTSW 17 78,894,264 (GRCm39) missense probably benign
R5779:Vit UTSW 17 78,853,855 (GRCm39) missense probably benign
R6596:Vit UTSW 17 78,930,274 (GRCm39) missense probably benign 0.35
R6658:Vit UTSW 17 78,930,232 (GRCm39) missense possibly damaging 0.93
R6792:Vit UTSW 17 78,886,828 (GRCm39) missense probably damaging 1.00
R6894:Vit UTSW 17 78,934,187 (GRCm39) nonsense probably null
R7032:Vit UTSW 17 78,932,294 (GRCm39) missense probably damaging 1.00
R7061:Vit UTSW 17 78,932,585 (GRCm39) missense probably damaging 1.00
R7102:Vit UTSW 17 78,932,426 (GRCm39) missense probably damaging 1.00
R7106:Vit UTSW 17 78,894,228 (GRCm39) missense probably benign
R7292:Vit UTSW 17 78,912,927 (GRCm39) missense probably benign 0.03
R7413:Vit UTSW 17 78,932,309 (GRCm39) missense probably damaging 1.00
R8191:Vit UTSW 17 78,853,828 (GRCm39) missense probably benign 0.00
R8385:Vit UTSW 17 78,927,066 (GRCm39) missense probably benign 0.01
R9106:Vit UTSW 17 78,934,278 (GRCm39) missense probably damaging 1.00
R9314:Vit UTSW 17 78,927,044 (GRCm39) missense probably benign 0.02
R9433:Vit UTSW 17 78,932,413 (GRCm39) missense probably damaging 1.00
R9588:Vit UTSW 17 78,930,079 (GRCm39) missense probably damaging 0.98
R9772:Vit UTSW 17 78,932,398 (GRCm39) missense probably damaging 1.00
X0023:Vit UTSW 17 78,873,593 (GRCm39) missense probably benign
X0064:Vit UTSW 17 78,932,314 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16