Incidental Mutation 'R7292:Vit'
ID 566517
Institutional Source Beutler Lab
Gene Symbol Vit
Ensembl Gene ENSMUSG00000024076
Gene Name vitrin
Synonyms 1700052E02Rik, 1700110E08Rik, AKH, akhirin, 2810429K11Rik
MMRRC Submission 045397-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R7292 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 78815493-78934837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78912927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 287 (F287L)
Ref Sequence ENSEMBL: ENSMUSP00000024880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024880]
AlphaFold Q8VHI5
Predicted Effect probably benign
Transcript: ENSMUST00000024880
AA Change: F287L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
AA Change: F287L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,215,861 (GRCm39) C322* probably null Het
4930553M12Rik G A 4: 88,786,568 (GRCm39) R17C unknown Het
Abcc8 G A 7: 45,784,950 (GRCm39) T726I probably benign Het
Adamts18 T C 8: 114,436,277 (GRCm39) T981A probably benign Het
Adgrb3 A G 1: 25,570,957 (GRCm39) C507R probably damaging Het
Bloc1s6 T A 2: 122,584,615 (GRCm39) D63E probably damaging Het
Cdc25b C T 2: 131,033,093 (GRCm39) R135W probably damaging Het
Cdca2 G T 14: 67,915,326 (GRCm39) Y644* probably null Het
Ceacam10 G T 7: 24,477,775 (GRCm39) G97C probably damaging Het
Cenpf G A 1: 189,382,891 (GRCm39) L2668F probably damaging Het
Cog4 A G 8: 111,608,460 (GRCm39) D774G probably damaging Het
Col11a2 G A 17: 34,270,482 (GRCm39) G511E unknown Het
Col19a1 T A 1: 24,569,089 (GRCm39) I220F unknown Het
Cubn G T 2: 13,429,550 (GRCm39) T1317K probably damaging Het
Dnaaf5 T C 5: 139,136,072 (GRCm39) L24P unknown Het
Eif4a3l2 G A 6: 116,528,438 (GRCm39) R105Q probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Foxn4 C A 5: 114,396,716 (GRCm39) E256* probably null Het
Gm5930 A G 14: 44,574,014 (GRCm39) S108P probably damaging Het
Gnl3 A G 14: 30,735,189 (GRCm39) S468P probably benign Het
Gzmb A T 14: 56,499,576 (GRCm39) S11T probably benign Het
Hmcn1 T C 1: 150,608,880 (GRCm39) probably null Het
Ifi206 A G 1: 173,301,428 (GRCm39) L750P unknown Het
Ifi213 T A 1: 173,422,691 (GRCm39) E58V probably damaging Het
Igkv4-78 A T 6: 69,036,752 (GRCm39) Y94N probably damaging Het
Igsf9 G T 1: 172,319,324 (GRCm39) probably null Het
Itpr2 G T 6: 146,060,447 (GRCm39) L2490M possibly damaging Het
Kdm2b A G 5: 123,018,854 (GRCm39) F862S probably damaging Het
Kif19b A G 5: 140,457,425 (GRCm39) D398G probably benign Het
Meis1 A G 11: 18,961,351 (GRCm39) I174T probably damaging Het
Micu3 A G 8: 40,835,166 (GRCm39) Q507R probably benign Het
Mpp4 C T 1: 59,182,969 (GRCm39) E313K possibly damaging Het
Nfatc4 G A 14: 56,062,512 (GRCm39) E7K probably damaging Het
Or7g16 A T 9: 18,727,486 (GRCm39) Y35N probably damaging Het
Or9s18 T A 13: 65,300,656 (GRCm39) V206D possibly damaging Het
Osbpl5 G A 7: 143,255,015 (GRCm39) P470S probably damaging Het
Pak6 A G 2: 118,524,072 (GRCm39) D409G possibly damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,361,986 (GRCm39) M553K probably benign Het
Ppp2r3d T C 9: 101,089,871 (GRCm39) N151D probably damaging Het
Prdm12 T C 2: 31,533,862 (GRCm39) W160R probably damaging Het
Prdm2 G A 4: 142,859,471 (GRCm39) T1273M possibly damaging Het
Prl2a1 A G 13: 27,991,353 (GRCm39) probably null Het
Prob1 G A 18: 35,787,603 (GRCm39) P217L possibly damaging Het
Ramp1 A C 1: 91,124,499 (GRCm39) H20P probably benign Het
Rbm47 T A 5: 66,184,093 (GRCm39) E170V possibly damaging Het
Relch G T 1: 105,649,141 (GRCm39) probably null Het
Rpn1 C T 6: 88,067,066 (GRCm39) P142L probably damaging Het
Rsu1 C T 2: 13,174,827 (GRCm39) R238H probably damaging Het
Sh3rf3 C T 10: 58,907,795 (GRCm39) P441L probably damaging Het
Slc1a6 A G 10: 78,650,438 (GRCm39) S559G possibly damaging Het
Slc35f5 C A 1: 125,500,222 (GRCm39) S245R probably damaging Het
Spcs3 T C 8: 54,979,554 (GRCm39) N76D probably benign Het
Spmip5 A T 19: 58,777,539 (GRCm39) Y90* probably null Het
Svep1 T C 4: 58,111,395 (GRCm39) T1075A possibly damaging Het
Sympk A T 7: 18,769,955 (GRCm39) I211F probably benign Het
Tk1 C T 11: 117,716,603 (GRCm39) M1I probably null Het
Tln2 A G 9: 67,253,743 (GRCm39) V776A probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tnk2 T C 16: 32,499,618 (GRCm39) V977A probably benign Het
Toporsl A T 4: 52,611,630 (GRCm39) S508C probably benign Het
Trank1 A C 9: 111,206,938 (GRCm39) R1690S probably benign Het
Trio T A 15: 27,828,437 (GRCm39) Q1409L possibly damaging Het
Vmn2r109 G C 17: 20,761,700 (GRCm39) D552E probably benign Het
Zw10 T C 9: 48,972,491 (GRCm39) V186A 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
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
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'- TGCCCATATATGTGAAAACAGC -3'
(R):5'- TTGGGAAGGCTCCTATGTCC -3'

Sequencing Primer
(F):5'- GTCAGGCCAAATCACAGA -3'
(R):5'- GAAGGCTCCTATGTCCTCGAC -3'
Posted On 2019-06-26