Incidental Mutation 'R0044:Vrtn'
ID 32899
Institutional Source Beutler Lab
Gene Symbol Vrtn
Ensembl Gene ENSMUSG00000071235
Gene Name vertebrae development associated
Synonyms 7420416P09Rik
MMRRC Submission 038338-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R0044 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 12
Chromosomal Location 84687793-84698229 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84695379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 43 (L43H)
Ref Sequence ENSEMBL: ENSMUSP00000152493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095551] [ENSMUST00000166772] [ENSMUST00000167227] [ENSMUST00000221915] [ENSMUST00000222319]
AlphaFold Q3SYK4
Predicted Effect probably damaging
Transcript: ENSMUST00000095551
AA Change: L43H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093207
Gene: ENSMUSG00000071235
AA Change: L43H

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 damaging
Transcript: ENSMUST00000166772
AA Change: L43H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128808
Gene: ENSMUSG00000071235
AA Change: L43H

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 damaging
Transcript: ENSMUST00000167227
AA Change: L43H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132050
Gene: ENSMUSG00000071235
AA Change: L43H

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 damaging
Transcript: ENSMUST00000221915
AA Change: L43H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222319
AA Change: L43H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.5467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 100% (77/77)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430571L13Rik A C 9: 107,219,698 (GRCm39) R50S probably damaging Het
Actn2 G T 13: 12,290,013 (GRCm39) T176N possibly damaging Het
Adamts7 T C 9: 90,053,641 (GRCm39) V62A possibly damaging Het
Adcy2 A G 13: 68,876,018 (GRCm39) S495P possibly damaging Het
Agbl3 A T 6: 34,776,834 (GRCm39) M447L probably damaging Het
Asxl1 C T 2: 153,242,129 (GRCm39) T893I probably benign Het
Atp11b T A 3: 35,866,401 (GRCm39) I400N probably damaging Het
Bpifb2 C T 2: 153,724,599 (GRCm39) probably benign Het
Capn1 T A 19: 6,064,373 (GRCm39) Y42F probably benign Het
Cdk5rap2 A T 4: 70,279,138 (GRCm39) L190H probably damaging Het
Cfap54 T C 10: 92,871,295 (GRCm39) I594V probably null Het
Cpsf1 A G 15: 76,483,753 (GRCm39) V830A probably benign Het
Cyp2c70 T A 19: 40,153,815 (GRCm39) N258I possibly damaging Het
Dctn1 T G 6: 83,168,116 (GRCm39) Y386D probably damaging Het
Degs2 T C 12: 108,658,413 (GRCm39) N189D probably damaging Het
Dido1 C T 2: 180,303,612 (GRCm39) A1431T probably damaging Het
Diras1 G T 10: 80,857,972 (GRCm39) S93* probably null Het
E130308A19Rik T A 4: 59,690,290 (GRCm39) H41Q possibly damaging Het
Ebf2 C T 14: 67,548,417 (GRCm39) probably benign Het
Fcho2 A G 13: 98,892,052 (GRCm39) probably benign Het
Gbe1 T A 16: 70,358,020 (GRCm39) Y681* probably null Het
Gm10036 A C 18: 15,965,873 (GRCm39) K8T probably benign Het
Herc1 T A 9: 66,355,457 (GRCm39) M2236K probably benign Het
Hmcn2 A T 2: 31,302,520 (GRCm39) Y2948F probably damaging Het
Jakmip2 A T 18: 43,715,170 (GRCm39) C119S probably benign Het
Kif1b A G 4: 149,348,058 (GRCm39) probably benign Het
Kif6 T C 17: 50,139,284 (GRCm39) probably benign Het
Lpin1 A T 12: 16,618,530 (GRCm39) probably benign Het
Lrp2 T C 2: 69,357,899 (GRCm39) I377V probably benign Het
Mavs C A 2: 131,083,944 (GRCm39) T147N probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Mreg T G 1: 72,201,534 (GRCm39) T153P probably damaging Het
Naglu T C 11: 100,962,043 (GRCm39) I172T probably damaging Het
Odad4 A T 11: 100,457,827 (GRCm39) I477F probably damaging Het
Ogdhl T C 14: 32,061,285 (GRCm39) V492A possibly damaging Het
Or4a72 A G 2: 89,405,974 (GRCm39) I32T possibly damaging Het
Parvg A G 15: 84,222,083 (GRCm39) E323G probably benign Het
Pgap1 A G 1: 54,532,527 (GRCm39) L664S probably damaging Het
Pgm2l1 A G 7: 99,899,539 (GRCm39) N51S probably benign Het
Pik3r6 A G 11: 68,435,576 (GRCm39) T609A probably benign Het
Plcb4 T A 2: 135,813,776 (GRCm39) V705E probably damaging Het
Plppr5 T A 3: 117,465,538 (GRCm39) probably null Het
Prkg2 C A 5: 99,120,989 (GRCm39) D411Y probably damaging Het
Ptprd A G 4: 76,004,566 (GRCm39) V63A probably benign Het
Ptprz1 T A 6: 23,007,402 (GRCm39) I1655N probably damaging Het
Raf1 T A 6: 115,600,476 (GRCm39) D10V probably benign Het
Rexo1 T A 10: 80,380,212 (GRCm39) Q928L probably benign Het
Rpl7l1 A C 17: 47,089,456 (GRCm39) probably null Het
Rrm2b A G 15: 37,953,932 (GRCm39) S39P possibly damaging Het
Scn5a A G 9: 119,321,113 (GRCm39) probably null Het
Sgtb A G 13: 104,265,768 (GRCm39) T93A probably benign Het
Sigirr G T 7: 140,672,226 (GRCm39) probably null Het
Slc16a7 T C 10: 125,063,951 (GRCm39) D462G probably benign Het
Slc25a30 C T 14: 76,007,089 (GRCm39) A85T probably benign Het
Spata24 A G 18: 35,789,887 (GRCm39) S167P probably damaging Het
Spock3 C T 8: 63,597,041 (GRCm39) T115I possibly damaging Het
Srgap2 A G 1: 131,247,289 (GRCm39) I581T possibly damaging Het
Syn2 A T 6: 115,112,108 (GRCm39) M23L unknown Het
Synrg G A 11: 83,900,007 (GRCm39) V839I probably damaging Het
Tmtc1 A G 6: 148,314,327 (GRCm39) probably benign Het
Tnfaip3 C A 10: 18,887,374 (GRCm39) M50I probably damaging Het
Topbp1 T A 9: 103,202,972 (GRCm39) I721N possibly damaging Het
Ttc22 T G 4: 106,494,003 (GRCm39) V321G probably benign Het
Ubr2 A G 17: 47,303,911 (GRCm39) probably benign Het
Ubr4 T C 4: 139,164,369 (GRCm39) probably benign Het
Usp24 T C 4: 106,269,281 (GRCm39) probably benign Het
Vmn2r100 A T 17: 19,742,441 (GRCm39) I272L possibly damaging Het
Wnk1 G T 6: 120,014,110 (GRCm39) R162S probably damaging Het
Xkr9 G A 1: 13,754,286 (GRCm39) W93* probably null Het
Zfp804b G T 5: 6,819,655 (GRCm39) P1136H 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
IGL02684:Vrtn APN 12 84,696,923 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACAGGTTGAGAACTGCTGCTGC -3'
(R):5'- ATCACCTTGGAGTCGATCATGCCC -3'

Sequencing Primer
(F):5'- AGCGCACACCCACCATTC -3'
(R):5'- TGCAGATAATAGTGCCTGTGC -3'
Posted On 2013-05-09