Incidental Mutation 'IGL02326:Ighv1-53'
ID288457
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-53
Ensembl Gene ENSMUSG00000093894
Gene Nameimmunoglobulin heavy variable 1-53
SynonymsAB069917, V23-D-J-C mu
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.198) question?
Stock #IGL02326
Quality Score
Status
Chromosome12
Chromosomal Location115158403-115158835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 115158615 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 47 (T47S)
Ref Sequence ENSEMBL: ENSMUSP00000100304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103523]
Predicted Effect probably benign
Transcript: ENSMUST00000103523
AA Change: T47S

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100304
Gene: ENSMUSG00000093894
AA Change: T47S

DomainStartEndE-ValueType
IGv 36 117 3.52e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik T C 3: 121,671,402 V29A unknown Het
Abcc8 C A 7: 46,122,857 probably null Het
Ankar A T 1: 72,666,355 I614N probably damaging Het
Ash1l G A 3: 88,966,057 R49H probably benign Het
Atp8b1 T C 18: 64,538,583 H1123R probably damaging Het
Casp12 T C 9: 5,358,317 Y375H possibly damaging Het
Cbl A G 9: 44,151,473 I861T possibly damaging Het
Cdh20 T C 1: 104,975,039 L485P probably damaging Het
Cobl A T 11: 12,386,712 N25K possibly damaging Het
Col14a1 T C 15: 55,418,797 V818A unknown Het
Csmd3 G A 15: 47,755,963 probably benign Het
Dpp6 A G 5: 27,664,757 Y509C probably damaging Het
Fabp2 C T 3: 122,898,746 R96C probably damaging Het
Fam53a T C 5: 33,600,594 D395G probably damaging Het
Gabrb1 T A 5: 71,700,847 I72K probably damaging Het
Hmcn2 G A 2: 31,450,952 S4479N probably damaging Het
Hrnr C T 3: 93,323,745 T430I unknown Het
Ilk C A 7: 105,741,633 P261Q probably damaging Het
Ints10 T G 8: 68,804,833 D228E probably damaging Het
Kcnq5 A T 1: 21,402,592 S782R probably benign Het
Map3k4 A G 17: 12,249,010 S1046P probably damaging Het
Musk C T 4: 58,354,113 P374S probably benign Het
Olfr1106 G A 2: 87,049,011 S75L possibly damaging Het
Olfr1152 T A 2: 87,868,675 I228N probably damaging Het
Olfr1462 C A 19: 13,191,415 Y249* probably null Het
Olfr670 T A 7: 104,960,646 I29F probably benign Het
Pkd2 T C 5: 104,477,075 Y246H probably benign Het
Plekha5 G T 6: 140,583,850 G340* probably null Het
Plxna4 T A 6: 32,152,905 M1828L probably damaging Het
Prex1 A G 2: 166,621,185 I252T probably benign Het
Pura A G 18: 36,287,778 D206G probably damaging Het
Rad54b T A 4: 11,612,713 F782I probably damaging Het
Rbp4 T C 19: 38,124,115 D90G probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scn7a C A 2: 66,700,048 R651L probably benign Het
Sh2d3c A T 2: 32,749,151 probably null Het
Slc43a1 T G 2: 84,849,771 L87R probably damaging Het
Sppl2c A G 11: 104,187,273 T300A probably benign Het
Srgap2 T A 1: 131,356,907 probably null Het
Tkt G A 14: 30,572,225 V531M probably damaging Het
Twsg1 T C 17: 65,926,436 D173G possibly damaging Het
Ugt2b37 G T 5: 87,241,002 H451N probably benign Het
Ugt2b38 C T 5: 87,423,733 D147N probably damaging Het
Vmn1r15 T C 6: 57,258,270 I41T probably benign Het
Vwa5a A T 9: 38,737,956 T667S probably benign Het
Xrn2 A G 2: 147,047,713 E672G probably benign Het
Zfp235 T A 7: 24,135,302 M1K probably null Het
Zmym1 T C 4: 127,047,760 E847G probably damaging Het
Other mutations in Ighv1-53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01815:Ighv1-53 APN 12 115158597 missense probably benign 0.01
BB010:Ighv1-53 UTSW 12 115158409 nonsense probably null
BB020:Ighv1-53 UTSW 12 115158409 nonsense probably null
R3404:Ighv1-53 UTSW 12 115158438 missense possibly damaging 0.81
R4020:Ighv1-53 UTSW 12 115158822 missense probably benign 0.00
R4169:Ighv1-53 UTSW 12 115158546 missense possibly damaging 0.63
R4241:Ighv1-53 UTSW 12 115158822 missense probably benign 0.00
R5231:Ighv1-53 UTSW 12 115158605 missense probably benign 0.09
R7139:Ighv1-53 UTSW 12 115158821 nonsense probably null
R7220:Ighv1-53 UTSW 12 115158515 missense probably benign 0.00
R7293:Ighv1-53 UTSW 12 115158821 nonsense probably null
R7933:Ighv1-53 UTSW 12 115158409 nonsense probably null
R7934:Ighv1-53 UTSW 12 115158616 nonsense probably null
R8846:Ighv1-53 UTSW 12 115158545 missense probably damaging 0.99
Posted On2015-04-16