Incidental Mutation 'IGL01777:Vrtn'
ID154115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vrtn
Ensembl Gene ENSMUSG00000071235
Gene Namevertebrae development associated
Synonyms7420416P09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL01777
Quality Score
Status
Chromosome12
Chromosomal Location84641019-84651455 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 84648922 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 149 (S149A)
Ref Sequence ENSEMBL: ENSMUSP00000132050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095551] [ENSMUST00000166772] [ENSMUST00000167227] [ENSMUST00000221915] [ENSMUST00000222319]
Predicted Effect probably benign
Transcript: ENSMUST00000095551
AA Change: S149A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: S149A

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 254 267 N/A INTRINSIC
internal_repeat_1 312 354 6.24e-8 PROSPERO
low complexity region 393 405 N/A INTRINSIC
low complexity region 514 524 N/A INTRINSIC
low complexity region 569 580 N/A INTRINSIC
internal_repeat_1 687 731 6.24e-8 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000166772
AA Change: S149A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: S149A

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 254 267 N/A INTRINSIC
internal_repeat_1 312 354 6.24e-8 PROSPERO
low complexity region 393 405 N/A INTRINSIC
low complexity region 514 524 N/A INTRINSIC
low complexity region 569 580 N/A INTRINSIC
internal_repeat_1 687 731 6.24e-8 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000167227
AA Change: S149A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: S149A

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 254 267 N/A INTRINSIC
internal_repeat_1 312 354 6.24e-8 PROSPERO
low complexity region 393 405 N/A INTRINSIC
low complexity region 514 524 N/A INTRINSIC
low complexity region 569 580 N/A INTRINSIC
internal_repeat_1 687 731 6.24e-8 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000221915
Predicted Effect probably benign
Transcript: ENSMUST00000222319
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 60,024,784 V240A possibly damaging Het
Aftph A T 11: 20,726,554 C352S possibly damaging Het
Cand2 T C 6: 115,792,857 V876A probably damaging Het
Ccar1 T C 10: 62,780,577 I125V possibly damaging Het
Celsr3 A T 9: 108,835,942 M1858L probably benign Het
Csmd3 A T 15: 47,698,198 N2134K probably benign Het
Dhx29 A G 13: 112,930,872 I96V probably benign Het
Dst A G 1: 34,199,397 T3727A probably benign Het
Elavl4 T A 4: 110,206,661 probably null Het
Eno2 C T 6: 124,766,637 G113D probably damaging Het
Esf1 A C 2: 140,157,172 probably null Het
Frmd4b T C 6: 97,295,944 D783G probably benign Het
Gm13023 T G 4: 143,795,118 C435G possibly damaging Het
Grin2a C T 16: 9,644,130 V713I probably benign Het
Impa1 C T 3: 10,322,948 G138D probably damaging Het
Kcnt2 A G 1: 140,595,998 T1079A probably benign Het
Kmt2a A G 9: 44,849,005 S549P probably damaging Het
Magoh C A 4: 107,883,176 Q86K probably benign Het
Moxd1 C A 10: 24,252,596 T182K probably benign Het
Olfr476 A G 7: 107,967,502 Y35C probably damaging Het
Rab3b A T 4: 108,929,410 Q119L probably damaging Het
Snap47 T A 11: 59,421,651 probably null Het
Taar3 A G 10: 23,950,005 R150G probably benign Het
Tas2r102 C T 6: 132,762,852 T241I probably damaging Het
Tas2r114 C T 6: 131,689,701 W121* probably null Het
Trak1 G A 9: 121,431,560 probably null Het
Ubn1 T C 16: 5,072,149 V426A possibly damaging Het
Vmn1r40 T C 6: 89,714,222 L7P probably benign Het
Vmn2r43 T C 7: 8,255,273 I314V probably damaging Het
Other mutations in Vrtn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Vrtn APN 12 84649063 missense probably benign 0.01
IGL01911:Vrtn APN 12 84650206 missense probably benign
IGL02219:Vrtn APN 12 84648833 missense probably damaging 1.00
IGL02684:Vrtn APN 12 84650149 missense probably benign
IGL02947:Vrtn APN 12 84648484 missense probably damaging 0.98
IGL03296:Vrtn APN 12 84648848 missense probably damaging 1.00
R0044:Vrtn UTSW 12 84648605 missense probably damaging 1.00
R1546:Vrtn UTSW 12 84648508 missense probably damaging 1.00
R1584:Vrtn UTSW 12 84650081 missense probably damaging 1.00
R1693:Vrtn UTSW 12 84648655 missense probably benign 0.03
R1773:Vrtn UTSW 12 84650224 missense probably damaging 0.98
R1951:Vrtn UTSW 12 84649199 missense probably damaging 1.00
R2143:Vrtn UTSW 12 84650162 missense probably benign 0.00
R4044:Vrtn UTSW 12 84649070 missense probably damaging 1.00
R4777:Vrtn UTSW 12 84648826 missense probably damaging 1.00
R4835:Vrtn UTSW 12 84649694 missense probably damaging 0.97
R5076:Vrtn UTSW 12 84649474 missense probably damaging 1.00
R5783:Vrtn UTSW 12 84650477 missense probably benign 0.31
R5831:Vrtn UTSW 12 84648575 missense probably damaging 1.00
R6349:Vrtn UTSW 12 84649018 missense probably damaging 1.00
R6499:Vrtn UTSW 12 84650316 missense probably benign 0.01
R6931:Vrtn UTSW 12 84650242 missense probably benign
Posted On2014-02-04