Incidental Mutation 'IGL02945:Ighv12-3'
ID 364698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv12-3
Ensembl Gene ENSMUSG00000076676
Gene Name immunoglobulin heavy variable V12-3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02945
Quality Score
Status
Chromosome 12
Chromosomal Location 114366521-114366954 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114366717 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 53 (W53R)
Ref Sequence ENSEMBL: ENSMUSP00000100266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103485]
AlphaFold A0A075B5T1
Predicted Effect probably damaging
Transcript: ENSMUST00000103485
AA Change: W53R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100266
Gene: ENSMUSG00000076676
AA Change: W53R

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGv 35 116 5.3e-26 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik A T 10: 51,756,999 noncoding transcript Het
Adgrf4 T C 17: 42,667,366 Q362R probably benign Het
Akap6 A G 12: 52,880,837 N177D probably damaging Het
Alms1 A G 6: 85,620,933 I914V probably damaging Het
Arhgap11a A T 2: 113,837,473 S394R possibly damaging Het
Cacna1h C T 17: 25,388,059 V962I probably damaging Het
Calr3 A T 8: 72,438,557 L91Q probably damaging Het
Ccnf T C 17: 24,224,916 E626G probably damaging Het
Clec10a A T 11: 70,170,542 I295F possibly damaging Het
Cop1 A T 1: 159,306,689 N167I probably benign Het
Csmd1 G T 8: 16,271,570 Q505K possibly damaging Het
Ctrc A C 4: 141,846,252 V6G possibly damaging Het
Cyp2c69 T C 19: 39,886,647 R21G possibly damaging Het
Dnah5 A G 15: 28,270,426 H958R probably benign Het
Egfr T A 11: 16,752,514 L11Q probably damaging Het
Erich2 A G 2: 70,534,394 T371A probably damaging Het
Fbxl21 T A 13: 56,527,170 F111L probably damaging Het
Grik4 G T 9: 42,597,879 T416N possibly damaging Het
Grin3a A G 4: 49,792,971 V254A possibly damaging Het
Hat1 G A 2: 71,420,693 R195K probably benign Het
Hmgb4 A C 4: 128,260,594 Y60* probably null Het
Irs2 C A 8: 11,007,781 C217F probably damaging Het
Kcnb1 T C 2: 167,188,388 E79G probably benign Het
Lingo3 A G 10: 80,834,698 I466T probably damaging Het
Lyst T C 13: 13,761,198 S3665P possibly damaging Het
Myh9 A T 15: 77,762,005 L1926Q probably benign Het
Myom1 A G 17: 71,092,093 probably benign Het
Nbeal1 T C 1: 60,206,410 F198L probably damaging Het
Nktr A G 9: 121,728,631 T63A probably damaging Het
Nle1 A T 11: 82,904,084 probably benign Het
Nr3c2 A T 8: 76,909,659 D463V probably damaging Het
Olfr181 A T 16: 58,926,340 I77N probably damaging Het
Olfr902 A G 9: 38,449,516 I215V probably benign Het
Pcdhb18 T C 18: 37,489,995 I126T probably benign Het
Pgm2 A G 4: 99,961,534 I127V probably benign Het
Rai14 A G 15: 10,574,709 I721T probably benign Het
Rps6ka1 A G 4: 133,867,199 Y57H probably damaging Het
Scara3 T A 14: 65,931,211 D319V probably damaging Het
Selp G A 1: 164,133,929 G404S probably damaging Het
Serinc3 A G 2: 163,630,916 probably benign Het
Slc4a8 A G 15: 100,807,199 probably null Het
Spen G T 4: 141,494,313 L325I unknown Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Thumpd1 A T 7: 119,716,747 S326R possibly damaging Het
Tmem255b T C 8: 13,455,141 S149P probably damaging Het
Tnni3k A T 3: 155,037,438 S95T possibly damaging Het
Trim66 G A 7: 109,460,176 Q954* probably null Het
Ttn A T 2: 76,751,972 I22859N probably damaging Het
Zfp319 A T 8: 95,323,818 probably benign Het
Other mutations in Ighv12-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Ighv12-3 APN 12 114366953 start codon destroyed probably null 0.86
IGL02314:Ighv12-3 APN 12 114366801 missense probably damaging 1.00
IGL02701:Ighv12-3 APN 12 114366801 missense probably damaging 1.00
R5569:Ighv12-3 UTSW 12 114366935 missense probably benign
R5952:Ighv12-3 UTSW 12 114366584 missense probably benign 0.07
R6542:Ighv12-3 UTSW 12 114366815 missense probably benign 0.41
R8962:Ighv12-3 UTSW 12 114366584 missense probably benign 0.07
R9131:Ighv12-3 UTSW 12 114366926 missense probably benign 0.40
R9335:Ighv12-3 UTSW 12 114366692 missense probably damaging 1.00
Posted On 2015-12-18