Incidental Mutation 'IGL02684:Vrtn'
ID 303478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vrtn
Ensembl Gene ENSMUSG00000071235
Gene Name vertebrae development associated
Synonyms 7420416P09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL02684
Quality Score
Status
Chromosome 12
Chromosomal Location 84687793-84698229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84696923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 558 (R558G)
Ref Sequence ENSEMBL: ENSMUSP00000132050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095551] [ENSMUST00000166772] [ENSMUST00000167227] [ENSMUST00000221915] [ENSMUST00000222319]
AlphaFold Q3SYK4
Predicted Effect probably benign
Transcript: ENSMUST00000095551
AA Change: R558G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: R558G

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: R558G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: R558G

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: R558G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: R558G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,532,020 (GRCm39) L185* probably null Het
Aadacl4fm5 A G 4: 144,504,755 (GRCm39) probably benign Het
Actrt3 A T 3: 30,653,840 (GRCm39) D53E probably benign Het
Ankrd34b T C 13: 92,575,016 (GRCm39) S83P probably damaging Het
Asap1 A G 15: 63,966,018 (GRCm39) V1029A probably benign Het
Blk T C 14: 63,617,143 (GRCm39) E288G probably benign Het
Cep192 T G 18: 67,967,634 (GRCm39) V706G probably damaging Het
Chd2 T C 7: 73,125,097 (GRCm39) K908E probably damaging Het
Dnm1l A T 16: 16,139,521 (GRCm39) I391N possibly damaging Het
Fmn1 A G 2: 113,355,622 (GRCm39) R688G unknown Het
Gdap2 A G 3: 100,078,336 (GRCm39) D100G probably benign Het
Gm43638 T C 5: 87,610,769 (GRCm39) I522V possibly damaging Het
Gsap A T 5: 21,447,801 (GRCm39) probably null Het
Hoxd12 A G 2: 74,505,905 (GRCm39) S159G probably benign Het
Ints7 A G 1: 191,345,749 (GRCm39) probably null Het
Iqsec3 G A 6: 121,389,900 (GRCm39) Q524* probably null Het
Klra10 T A 6: 130,258,845 (GRCm39) H14L possibly damaging Het
Lratd1 T C 12: 14,200,646 (GRCm39) D27G probably damaging Het
Mettl15 T C 2: 108,961,925 (GRCm39) E228G probably damaging Het
Or51v8 T C 7: 103,319,591 (GRCm39) M216V probably benign Het
Or9s18 G A 13: 65,300,210 (GRCm39) M57I probably damaging Het
Pabpc1l A G 2: 163,873,197 (GRCm39) N156D probably benign Het
Pkhd1l1 G T 15: 44,379,605 (GRCm39) probably null Het
Pm20d1 T A 1: 131,732,697 (GRCm39) N345K probably benign Het
Rasgrp1 A G 2: 117,113,057 (GRCm39) V785A probably benign Het
Sos2 A G 12: 69,643,440 (GRCm39) L980S probably damaging Het
Stam2 A T 2: 52,609,947 (GRCm39) H56Q probably damaging Het
Trpm6 T A 19: 18,779,571 (GRCm39) probably benign Het
Trpm7 A T 2: 126,688,079 (GRCm39) D249E probably damaging Het
Vmn1r203 A T 13: 22,708,539 (GRCm39) T107S possibly damaging Het
Vmn2r55 A G 7: 12,404,887 (GRCm39) L172P probably damaging Het
Zfp977 A T 7: 42,232,439 (GRCm39) D7E probably damaging Het
Other mutations in Vrtn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Vrtn APN 12 84,695,837 (GRCm39) missense probably benign 0.01
IGL01777:Vrtn APN 12 84,695,696 (GRCm39) missense probably benign 0.13
IGL01911:Vrtn APN 12 84,696,980 (GRCm39) missense probably benign
IGL02219:Vrtn APN 12 84,695,607 (GRCm39) missense probably damaging 1.00
IGL02947:Vrtn APN 12 84,695,258 (GRCm39) missense probably damaging 0.98
IGL03296:Vrtn APN 12 84,695,622 (GRCm39) missense probably damaging 1.00
PIT4378001:Vrtn UTSW 12 84,695,943 (GRCm39) missense probably damaging 0.99
R0044:Vrtn UTSW 12 84,695,379 (GRCm39) missense probably damaging 1.00
R1546:Vrtn UTSW 12 84,695,282 (GRCm39) missense probably damaging 1.00
R1584:Vrtn UTSW 12 84,696,855 (GRCm39) missense probably damaging 1.00
R1693:Vrtn UTSW 12 84,695,429 (GRCm39) missense probably benign 0.03
R1773:Vrtn UTSW 12 84,696,998 (GRCm39) missense probably damaging 0.98
R1951:Vrtn UTSW 12 84,695,973 (GRCm39) missense probably damaging 1.00
R2143:Vrtn UTSW 12 84,696,936 (GRCm39) missense probably benign 0.00
R4044:Vrtn UTSW 12 84,695,844 (GRCm39) missense probably damaging 1.00
R4777:Vrtn UTSW 12 84,695,600 (GRCm39) missense probably damaging 1.00
R4835:Vrtn UTSW 12 84,696,468 (GRCm39) missense probably damaging 0.97
R5076:Vrtn UTSW 12 84,696,248 (GRCm39) missense probably damaging 1.00
R5783:Vrtn UTSW 12 84,697,251 (GRCm39) missense probably benign 0.31
R5831:Vrtn UTSW 12 84,695,349 (GRCm39) missense probably damaging 1.00
R6349:Vrtn UTSW 12 84,695,792 (GRCm39) missense probably damaging 1.00
R6499:Vrtn UTSW 12 84,697,090 (GRCm39) missense probably benign 0.01
R6931:Vrtn UTSW 12 84,697,016 (GRCm39) missense probably benign
R7192:Vrtn UTSW 12 84,695,636 (GRCm39) missense probably damaging 0.98
R7789:Vrtn UTSW 12 84,697,080 (GRCm39) missense probably benign
R8059:Vrtn UTSW 12 84,696,690 (GRCm39) missense probably benign
R8095:Vrtn UTSW 12 84,696,809 (GRCm39) missense probably damaging 1.00
R8096:Vrtn UTSW 12 84,696,809 (GRCm39) missense probably damaging 1.00
R8136:Vrtn UTSW 12 84,696,809 (GRCm39) missense probably damaging 1.00
R8142:Vrtn UTSW 12 84,697,395 (GRCm39) missense probably damaging 1.00
R8557:Vrtn UTSW 12 84,696,690 (GRCm39) missense probably benign
R9165:Vrtn UTSW 12 84,697,251 (GRCm39) missense probably benign 0.31
Posted On 2015-04-16