Incidental Mutation 'R4923:Vit'
ID 439473
Institutional Source Beutler Lab
Gene Symbol Vit
Ensembl Gene ENSMUSG00000024076
Gene Name vitrin
Synonyms 1700052E02Rik, 1700110E08Rik, AKH, akhirin, 2810429K11Rik
MMRRC Submission 042525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4923 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 78815493-78934837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78894270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 224 (M224K)
Ref Sequence ENSEMBL: ENSMUSP00000024880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024880]
AlphaFold Q8VHI5
Predicted Effect probably benign
Transcript: ENSMUST00000024880
AA Change: M224K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
AA Change: M224K

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
Meta Mutation Damage Score 0.1778 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 98% (107/109)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,287,372 (GRCm39) D124G probably benign Het
Akr1c6 T C 13: 4,504,494 (GRCm39) M293T probably damaging Het
Albfm1 A G 5: 90,709,158 (GRCm39) T23A probably benign Het
Ankhd1 A G 18: 36,722,505 (GRCm39) T343A probably damaging Het
Ano2 T C 6: 125,880,018 (GRCm39) probably benign Het
Arfgap2 G A 2: 91,104,004 (GRCm39) G353R probably damaging Het
Armc3 A G 2: 19,297,791 (GRCm39) probably null Het
Atp11b T C 3: 35,889,528 (GRCm39) probably null Het
Brd4 A G 17: 32,418,214 (GRCm39) M13T probably benign Het
Btd T A 14: 31,384,044 (GRCm39) M10K possibly damaging Het
C1s2 T C 6: 124,602,649 (GRCm39) K515E probably benign Het
Cars1 A T 7: 143,123,587 (GRCm39) Y455N probably damaging Het
Ccdc110 A G 8: 46,396,460 (GRCm39) S784G probably benign Het
Chic2 A G 5: 75,171,872 (GRCm39) probably benign Het
Chka A T 19: 3,942,105 (GRCm39) probably null Het
Chrne A G 11: 70,506,101 (GRCm39) I420T possibly damaging Het
Clstn1 T C 4: 149,729,486 (GRCm39) V747A probably benign Het
Cobll1 A G 2: 64,929,602 (GRCm39) S575P possibly damaging Het
Col6a6 A T 9: 105,666,147 (GRCm39) L3Q probably damaging Het
Comtd1 A T 14: 21,898,813 (GRCm39) probably benign Het
Cpsf2 T C 12: 101,948,243 (GRCm39) V13A probably benign Het
Creb3l4 T A 3: 90,149,521 (GRCm39) I115L probably benign Het
Cyp2j12 C T 4: 95,990,346 (GRCm39) A407T possibly damaging Het
Ddr2 A G 1: 169,825,498 (GRCm39) probably null Het
Dennd4c T C 4: 86,725,775 (GRCm39) L743P probably damaging Het
Egfl8 T C 17: 34,833,171 (GRCm39) T192A probably benign Het
Elapor1 C T 3: 108,379,284 (GRCm39) probably null Het
Elf3 A G 1: 135,184,473 (GRCm39) probably benign Het
Entrep2 A G 7: 64,417,439 (GRCm39) S322P probably benign Het
Etv3 T G 3: 87,443,223 (GRCm39) L269R possibly damaging Het
Fah C A 7: 84,251,260 (GRCm39) probably benign Het
Fbll1 C A 11: 35,688,407 (GRCm39) L285F probably benign Het
Fcrla A T 1: 170,748,682 (GRCm39) F154I probably damaging Het
Fnip2 T A 3: 79,396,701 (GRCm39) probably null Het
Focad T C 4: 88,115,083 (GRCm39) probably benign Het
Gabrr1 T A 4: 33,162,820 (GRCm39) I462N possibly damaging Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
Gnptab A G 10: 88,265,485 (GRCm39) T366A probably benign Het
Hnrnpu G A 1: 178,159,017 (GRCm39) probably benign Het
Il17ra T A 6: 120,454,406 (GRCm39) V299E possibly damaging Het
Impg1 G A 9: 80,252,360 (GRCm39) Q607* probably null Het
Impg1 T A 9: 80,252,827 (GRCm39) E374V probably damaging Het
Itgax C T 7: 127,747,700 (GRCm39) L1039F probably benign Het
Kcnk2 A T 1: 189,072,133 (GRCm39) V65D probably damaging Het
Kif20b A C 19: 34,918,611 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lama5 T G 2: 179,825,942 (GRCm39) I2372L probably benign Het
Lilrb4a A G 10: 51,368,139 (GRCm39) T85A possibly damaging Het
Mapk13 C A 17: 28,997,197 (GRCm39) H330N probably benign Het
Mars1 C A 10: 127,132,549 (GRCm39) probably benign Het
Mdga1 C A 17: 30,057,052 (GRCm39) R818L probably damaging Het
Mdn1 T A 4: 32,671,608 (GRCm39) L476Q possibly damaging Het
Mup21 T C 4: 62,066,202 (GRCm39) E178G probably benign Het
Myg1 A G 15: 102,240,288 (GRCm39) N38S probably benign Het
Ncam1 A T 9: 49,416,779 (GRCm39) D837E probably benign Het
Ncam2 C T 16: 81,386,679 (GRCm39) P686L possibly damaging Het
Nck2 T C 1: 43,500,231 (GRCm39) probably benign Het
Nfya T C 17: 48,707,563 (GRCm39) probably benign Het
Npat A G 9: 53,482,330 (GRCm39) K1346R probably damaging Het
Odad2 C G 18: 7,181,787 (GRCm39) D846H probably damaging Het
Or12j3 G T 7: 139,952,920 (GRCm39) T201K probably benign Het
Or4a72 T C 2: 89,406,023 (GRCm39) T16A probably damaging Het
Or6c212 A G 10: 129,558,681 (GRCm39) V244A probably benign Het
Pde7b G T 10: 20,288,873 (GRCm39) Q325K probably damaging Het
Pla2r1 A T 2: 60,253,056 (GRCm39) M1345K probably benign Het
Prkcz T C 4: 155,441,946 (GRCm39) D62G probably damaging Het
Pros1 T A 16: 62,723,935 (GRCm39) C228S possibly damaging Het
Ptprc A G 1: 138,006,236 (GRCm39) M782T possibly damaging Het
Rcn1 T C 2: 105,219,518 (GRCm39) D225G probably benign Het
Recql4 G A 15: 76,594,381 (GRCm39) R46C probably damaging Het
Rnf220 C T 4: 117,346,797 (GRCm39) R205Q possibly damaging Het
Samd13 T C 3: 146,368,502 (GRCm39) D11G probably benign Het
Scp2d1 T A 2: 144,666,030 (GRCm39) I123K probably benign Het
Skap1 A T 11: 96,644,870 (GRCm39) Y311F probably damaging Het
Slc2a10 T C 2: 165,356,676 (GRCm39) I112T possibly damaging Het
Slc34a1 G A 13: 24,003,078 (GRCm39) V243M probably benign Het
Slc39a2 G A 14: 52,132,711 (GRCm39) G218D probably damaging Het
Sos1 T C 17: 80,742,381 (GRCm39) N382S probably benign Het
Spam1 C T 6: 24,796,655 (GRCm39) T202I probably damaging Het
Tas2r138 T A 6: 40,589,820 (GRCm39) Q142L possibly damaging Het
Tec T A 5: 72,939,365 (GRCm39) R217* probably null Het
Tmeff2 T A 1: 50,969,804 (GRCm39) V90D probably benign Het
Tmem119 T C 5: 113,933,405 (GRCm39) Y132C probably damaging Het
Topbp1 A G 9: 103,190,035 (GRCm39) I204V probably benign Het
Trappc14 A T 5: 138,260,641 (GRCm39) probably benign Het
Ttn A T 2: 76,601,232 (GRCm39) I17001N probably damaging Het
Vmn1r179 T G 7: 23,628,491 (GRCm39) H227Q possibly damaging Het
Vmn1r84 T C 7: 12,095,743 (GRCm39) N305D probably benign Het
Vmn2r61 A G 7: 41,916,520 (GRCm39) N378D probably damaging Het
Vmn2r87 A G 10: 130,314,435 (GRCm39) Y384H probably damaging Het
Wiz C T 17: 32,580,570 (GRCm39) A294T probably benign Het
Xdh C A 17: 74,231,931 (GRCm39) V260L possibly damaging Het
Xirp2 A G 2: 67,343,237 (GRCm39) K1826R probably benign Het
Zfp445 A C 9: 122,681,358 (GRCm39) I861R probably benign Het
Zfp691 T C 4: 119,027,999 (GRCm39) T78A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGACAGTGGTGGTCAGTGACTG -3'
(R):5'- AAGATAGAACCTGCTGCCTCC -3'

Sequencing Primer
(F):5'- GCAACTCTGCTTTCTCACAGGTG -3'
(R):5'- CTCCCACCTGGTGAAAGTC -3'
Posted On 2016-10-31