Incidental Mutation 'IGL02561:Ighv1-54'
ID298646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-54
Ensembl Gene ENSMUSG00000094787
Gene Nameimmunoglobulin heavy variable V1-54
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.287) question?
Stock #IGL02561
Quality Score
Status
Chromosome12
Chromosomal Location115193675-115194134 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115193769 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 86 (K86R)
Ref Sequence ENSEMBL: ENSMUSP00000100306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103525]
Predicted Effect probably benign
Transcript: ENSMUST00000103525
AA Change: K86R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100306
Gene: ENSMUSG00000094787
AA Change: K86R

DomainStartEndE-ValueType
IGv 36 117 1.09e-27 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 104,977,670 Q49L probably benign Het
Aifm2 A G 10: 61,726,007 D44G probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cmya5 T C 13: 93,091,858 T2241A probably benign Het
Cntn4 C T 6: 106,523,509 P316S probably damaging Het
Ctnna2 G T 6: 77,845,580 S13R probably benign Het
Cyb5a G A 18: 84,871,512 G46D probably damaging Het
Daam1 T C 12: 71,946,516 V353A unknown Het
Ddx6 C T 9: 44,634,168 T417I probably damaging Het
Fcgbp C T 7: 28,101,174 probably benign Het
Gdi2 T C 13: 3,548,954 I46T possibly damaging Het
Gm3629 T C 14: 6,590,618 probably benign Het
Grap2 A T 15: 80,647,848 probably benign Het
Gsto2 T C 19: 47,886,190 probably benign Het
Gtf2a1 A T 12: 91,575,753 D57E possibly damaging Het
Hif1a A G 12: 73,942,206 I622M possibly damaging Het
Hmcn1 T C 1: 150,809,726 T328A probably benign Het
Igkv4-55 C T 6: 69,607,376 S84N probably damaging Het
Ilvbl T C 10: 78,577,144 S167P probably benign Het
Kcnn2 A G 18: 45,592,192 I252V possibly damaging Het
Lss T C 10: 76,540,430 probably benign Het
Mlip C A 9: 77,181,351 probably null Het
Ncbp1 C T 4: 46,159,711 T408M possibly damaging Het
Notch4 A G 17: 34,568,160 probably benign Het
Npepps A T 11: 97,229,849 C528* probably null Het
Nxf2 T C X: 134,956,452 T163A probably benign Het
Olfr1224-ps1 T C 2: 89,157,141 I11M possibly damaging Het
Phka1 A T X: 102,598,289 probably benign Het
Ptpn13 T G 5: 103,562,291 L1564R probably damaging Het
Robo3 A G 9: 37,427,091 S343P possibly damaging Het
Smarca2 A G 19: 26,716,182 D1262G possibly damaging Het
Spns1 C T 7: 126,373,769 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ttpal A G 2: 163,607,449 T75A probably damaging Het
Usp34 A G 11: 23,351,652 T359A probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zic2 A T 14: 122,478,545 K360* probably null Het
Other mutations in Ighv1-54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Ighv1-54 APN 12 115193937 missense probably damaging 1.00
IGL02195:Ighv1-54 APN 12 115193950 missense possibly damaging 0.75
IGL03084:Ighv1-54 APN 12 115194116 utr 5 prime probably benign
R3035:Ighv1-54 UTSW 12 115193977 missense probably damaging 0.99
R3767:Ighv1-54 UTSW 12 115193976 missense possibly damaging 0.92
R4856:Ighv1-54 UTSW 12 115193803 missense probably damaging 1.00
R4948:Ighv1-54 UTSW 12 115193818 missense probably benign 0.35
R6091:Ighv1-54 UTSW 12 115193877 missense probably benign 0.00
R7843:Ighv1-54 UTSW 12 115193863 missense probably damaging 1.00
R7926:Ighv1-54 UTSW 12 115193863 missense probably damaging 1.00
Posted On2015-04-16