Incidental Mutation 'IGL02584:Ighv1-22'
ID 299460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-22
Ensembl Gene ENSMUSG00000094561
Gene Name immunoglobulin heavy variable 1-22
Synonyms Gm16860
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL02584
Quality Score
Status
Chromosome 12
Chromosomal Location 114709893-114710186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114709942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 101 (E101G)
Ref Sequence ENSEMBL: ENSMUSP00000100288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103507]
AlphaFold A0A075B5U7
Predicted Effect probably benign
Transcript: ENSMUST00000103507
AA Change: E101G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000100288
Gene: ENSMUSG00000094561
AA Change: E101G

DomainStartEndE-ValueType
IGv 36 117 9.01e-29 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 88,971,744 (GRCm39) Y22F unknown Het
Adgrb3 A G 1: 25,544,065 (GRCm39) L312P probably damaging Het
Anpep T C 7: 79,475,141 (GRCm39) probably benign Het
Arhgef6 T G X: 56,291,738 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,884,146 (GRCm39) D989G probably damaging Het
Ccnj T A 19: 40,833,185 (GRCm39) V121E probably benign Het
Cdyl T C 13: 35,867,769 (GRCm39) L15P probably benign Het
Cnrip1 T A 11: 17,028,536 (GRCm39) M156K probably damaging Het
Cryga T A 1: 65,142,175 (GRCm39) S73C probably benign Het
Dennd4a A G 9: 64,758,580 (GRCm39) T240A probably damaging Het
Eml6 A G 11: 29,699,387 (GRCm39) S1789P probably damaging Het
Esr2 A T 12: 76,192,036 (GRCm39) W331R probably damaging Het
Fbh1 A T 2: 11,764,769 (GRCm39) L455H probably benign Het
Gm21698 T A 5: 26,192,391 (GRCm39) E65V probably damaging Het
Grm8 G T 6: 27,762,438 (GRCm39) F262L probably benign Het
Haus3 A T 5: 34,323,602 (GRCm39) L336* probably null Het
Hfm1 A C 5: 107,026,528 (GRCm39) probably null Het
Hgfac T C 5: 35,201,305 (GRCm39) probably benign Het
Impg2 A G 16: 56,085,374 (GRCm39) E1027G probably damaging Het
Lypd5 A T 7: 24,052,993 (GRCm39) T217S possibly damaging Het
Myrf A G 19: 10,189,587 (GRCm39) probably benign Het
Mzf1 A G 7: 12,786,744 (GRCm39) W109R probably damaging Het
Ndufb4 A T 16: 37,469,532 (GRCm39) probably benign Het
Ntn1 A G 11: 68,168,356 (GRCm39) V367A probably damaging Het
Oprk1 A G 1: 5,668,827 (GRCm39) K91R probably damaging Het
Or5m11b C T 2: 85,806,219 (GRCm39) L211F probably damaging Het
Pdlim1 A G 19: 40,231,844 (GRCm39) probably null Het
Ppp1r11 G A 17: 37,260,781 (GRCm39) R61C probably damaging Het
Racgap1 T C 15: 99,521,515 (GRCm39) D547G probably benign Het
Sema4b A G 7: 79,874,736 (GRCm39) T709A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Supt5 T C 7: 28,025,592 (GRCm39) H218R probably benign Het
Tmem132c T A 5: 127,582,063 (GRCm39) I426N probably damaging Het
Tpcn1 T C 5: 120,677,097 (GRCm39) N696S probably damaging Het
Ttn T C 2: 76,566,506 (GRCm39) N26383S possibly damaging Het
Vax2 A G 6: 83,688,495 (GRCm39) T73A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Ighv1-22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01798:Ighv1-22 APN 12 114,710,298 (GRCm39) missense probably damaging 1.00
R2858:Ighv1-22 UTSW 12 114,709,918 (GRCm39) missense probably damaging 1.00
R3849:Ighv1-22 UTSW 12 114,710,301 (GRCm39) missense possibly damaging 0.89
R4479:Ighv1-22 UTSW 12 114,710,283 (GRCm39) missense possibly damaging 0.80
R4667:Ighv1-22 UTSW 12 114,710,071 (GRCm39) missense probably damaging 0.96
R4874:Ighv1-22 UTSW 12 114,710,036 (GRCm39) missense probably benign 0.07
R5151:Ighv1-22 UTSW 12 114,709,928 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16