Incidental Mutation 'IGL02699:Ighv1-12'
ID304054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-12
Ensembl Gene ENSMUSG00000095416
Gene Nameimmunoglobulin heavy variable V1-12
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.173) question?
Stock #IGL02699
Quality Score
Status
Chromosome12
Chromosomal Location114615850-114616318 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 114616116 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 29 (E29*)
Ref Sequence ENSEMBL: ENSMUSP00000142024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103500] [ENSMUST00000109711] [ENSMUST00000191801] [ENSMUST00000195469]
Predicted Effect probably null
Transcript: ENSMUST00000103500
AA Change: E10*
SMART Domains Protein: ENSMUSP00000100281
Gene: ENSMUSG00000095416
AA Change: E10*

DomainStartEndE-ValueType
IGv 17 98 5.55e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109711
SMART Domains Protein: ENSMUSP00000105333
Gene: ENSMUSG00000095416

DomainStartEndE-ValueType
IG_like 1 60 4.1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191801
SMART Domains Protein: ENSMUSP00000141570
Gene: ENSMUSG00000102888

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 1.8e-28 SMART
Predicted Effect probably null
Transcript: ENSMUST00000195469
AA Change: E29*
SMART Domains Protein: ENSMUSP00000142024
Gene: ENSMUSG00000095416
AA Change: E29*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 2.2e-31 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,322,019 D198G probably benign Het
Casq1 T C 1: 172,219,696 probably benign Het
Cd109 T A 9: 78,671,989 probably benign Het
Col15a1 T G 4: 47,284,471 probably benign Het
Ctdp1 T C 18: 80,450,185 D365G probably benign Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dalrd3 T A 9: 108,570,889 probably benign Het
Dnaaf5 T C 5: 139,153,350 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo8 A G 8: 56,590,188 T236A possibly damaging Het
Il17re A G 6: 113,468,919 D397G probably damaging Het
Ing5 A G 1: 93,816,442 N157D possibly damaging Het
Ipo11 T C 13: 106,889,397 E395G possibly damaging Het
Letm1 T C 5: 33,745,148 E599G possibly damaging Het
Mansc1 T C 6: 134,610,354 T287A probably benign Het
Med1 T C 11: 98,180,025 N131D possibly damaging Het
Olfr1085 A T 2: 86,658,347 I37N probably benign Het
Olfr1337 G T 4: 118,782,152 C144* probably null Het
Olfr1341 T C 4: 118,710,198 S264P probably benign Het
Olfr769 T G 10: 129,111,771 Y218S probably benign Het
Osm T C 11: 4,239,723 V169A possibly damaging Het
Phkg2 C T 7: 127,582,550 A278V probably benign Het
Plod2 T A 9: 92,607,142 M709K probably damaging Het
Pzp A T 6: 128,487,401 probably null Het
Ric1 T C 19: 29,522,557 L12P possibly damaging Het
Skor1 C A 9: 63,140,046 probably benign Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Syncrip A G 9: 88,456,554 probably benign Het
Tex2 T C 11: 106,568,433 E57G possibly damaging Het
Tmc1 C T 19: 20,832,350 probably null Het
Tmem59 T C 4: 107,192,538 M140T probably benign Het
Ttn T C 2: 76,944,089 T2158A probably damaging Het
Other mutations in Ighv1-12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6169:Ighv1-12 UTSW 12 114615957 missense possibly damaging 0.85
Posted On2015-04-16