Incidental Mutation 'R6596:Vit'
ID 526018
Institutional Source Beutler Lab
Gene Symbol Vit
Ensembl Gene ENSMUSG00000024076
Gene Name vitrin
Synonyms 1700052E02Rik, 1700110E08Rik, AKH, akhirin, 2810429K11Rik
MMRRC Submission 044720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R6596 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 78815493-78934837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78930274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 413 (V413A)
Ref Sequence ENSEMBL: ENSMUSP00000024880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024880]
AlphaFold Q8VHI5
Predicted Effect probably benign
Transcript: ENSMUST00000024880
AA Change: V413A

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
AA Change: V413A

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik T A 9: 101,819,984 (GRCm39) C135S possibly damaging Het
Bag4 C T 8: 26,259,528 (GRCm39) D224N probably damaging Het
Cldn15 T A 5: 137,003,533 (GRCm39) C178* probably null Het
Col7a1 C A 9: 108,783,409 (GRCm39) probably benign Het
Crnn G A 3: 93,054,182 (GRCm39) E22K probably damaging Het
Dcstamp A C 15: 39,617,605 (GRCm39) T5P possibly damaging Het
Dennd4a A G 9: 64,759,702 (GRCm39) Y269C probably damaging Het
Dsg1c T A 18: 20,403,581 (GRCm39) probably null Het
Duox2 C T 2: 122,115,819 (GRCm39) V972I probably benign Het
Eif1ad15 C A 12: 88,288,057 (GRCm39) L65F possibly damaging Het
Ephb1 A C 9: 102,072,001 (GRCm39) Y259* probably null Het
Fam149a G T 8: 45,834,667 (GRCm39) T44K probably benign Het
Fn1 A G 1: 71,648,641 (GRCm39) Y1423H probably damaging Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gfm2 C T 13: 97,301,657 (GRCm39) P487S probably damaging Het
Hyou1 A G 9: 44,299,052 (GRCm39) E625G probably benign Het
Kmt5a G A 5: 124,588,759 (GRCm39) V121M probably benign Het
Mindy4 T C 6: 55,201,001 (GRCm39) S229P probably damaging Het
Muc16 T C 9: 18,478,011 (GRCm39) D7098G probably benign Het
Nsf A T 11: 103,801,283 (GRCm39) I244N probably damaging Het
Obox1 C T 7: 15,289,301 (GRCm39) S72L probably damaging Het
Or4b1 T A 2: 89,979,622 (GRCm39) T243S possibly damaging Het
Or5d38 C T 2: 87,954,543 (GRCm39) C262Y probably damaging Het
Pcdhb7 A T 18: 37,476,414 (GRCm39) I517F probably damaging Het
Plk2 C T 13: 110,534,296 (GRCm39) A292V probably benign Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Rasgrf1 A T 9: 89,894,847 (GRCm39) N1089I possibly damaging Het
Robo2 T A 16: 73,767,996 (GRCm39) N603Y probably damaging Het
Slc35f4 G A 14: 49,763,057 (GRCm39) A5V probably damaging Het
Smc4 A T 3: 68,933,226 (GRCm39) I616F probably damaging Het
Sorl1 T G 9: 41,912,899 (GRCm39) N1361H possibly damaging Het
Syngr1 C T 15: 79,995,893 (GRCm39) T144M probably damaging Het
Tbc1d16 A C 11: 119,048,601 (GRCm39) W351G probably damaging Het
Tbx15 A G 3: 99,259,508 (GRCm39) S460G probably benign Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Tpte T C 8: 22,823,285 (GRCm39) L304P probably damaging Het
Tubgcp5 T A 7: 55,456,382 (GRCm39) F325I probably benign Het
Ucp3 A T 7: 100,131,140 (GRCm39) I198F probably benign Het
Xrcc6 T C 15: 81,907,155 (GRCm39) M1T 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
IGL02230:Vit APN 17 78,927,056 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTTTTCCAAAGCCAATGGGAAC -3'
(R):5'- GGCTCTGAAGTGACAAGAAAGTTTG -3'

Sequencing Primer
(F):5'- AACAGAGGTGGTGCTCCC -3'
(R):5'- GGACATATCCAGGTTCCCCAG -3'
Posted On 2018-06-22