Incidental Mutation 'IGL02620:Ighv2-2'
ID300814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv2-2
Ensembl Gene ENSMUSG00000096464
Gene Nameimmunoglobulin heavy variable 2-2
SynonymsGm16970
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.289) question?
Stock #IGL02620
Quality Score
Status
Chromosome12
Chromosomal Location113588267-113588702 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113588292 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 109 (T109S)
Ref Sequence ENSEMBL: ENSMUSP00000100224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103443]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103443
AA Change: T109S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100224
Gene: ENSMUSG00000096464
AA Change: T109S

DomainStartEndE-ValueType
IGv 36 116 3.92e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195336
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik C T 2: 111,211,625 V322I probably benign Het
4932438A13Rik T C 3: 37,035,945 V4174A possibly damaging Het
Abcc12 A T 8: 86,505,314 probably null Het
Ccdc150 T A 1: 54,263,545 L108* probably null Het
Cdon C T 9: 35,452,799 T71I probably benign Het
Chdh T C 14: 30,031,139 W2R probably damaging Het
Ckap5 T G 2: 91,606,369 L1605V probably benign Het
Cluh C T 11: 74,665,067 Q819* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cwc27 C A 13: 104,802,206 probably benign Het
Elk4 C A 1: 132,018,371 A329D probably benign Het
Fbxo40 T C 16: 36,966,080 H709R probably benign Het
Flna A G X: 74,229,976 probably benign Het
Gm20390 G T 11: 93,952,856 R173S possibly damaging Het
Grip2 G T 6: 91,778,606 D592E possibly damaging Het
H2-T24 T G 17: 36,017,291 N100T probably damaging Het
Hepacam2 C A 6: 3,487,280 probably benign Het
Ipo11 T C 13: 106,876,281 probably null Het
Kcnh8 T C 17: 52,898,497 M540T probably damaging Het
Kifc3 A G 8: 95,109,954 S82P probably damaging Het
Map4k5 T C 12: 69,892,702 Y20C probably benign Het
Milr1 C A 11: 106,754,918 S95R probably damaging Het
Mtnr1b A C 9: 15,874,321 V47G possibly damaging Het
Olfr2 T A 7: 107,001,618 K81* probably null Het
Phactr2 T C 10: 13,291,888 R100G probably damaging Het
Ppargc1b A G 18: 61,298,739 Y997H probably damaging Het
Pramel3 A G X: 135,310,409 M397V probably benign Het
Ptprz1 A G 6: 22,959,740 K79E probably damaging Het
Rabgef1 T C 5: 130,191,022 S109P probably damaging Het
Raf1 A T 6: 115,632,887 probably benign Het
Rptor T C 11: 119,780,587 L292P probably benign Het
Slc25a45 A G 19: 5,884,526 D174G probably damaging Het
Tbcd C T 11: 121,461,255 T146M probably damaging Het
Zfp458 T A 13: 67,257,994 H127L probably damaging Het
Other mutations in Ighv2-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2871:Ighv2-2 UTSW 12 113588498 missense possibly damaging 0.59
R2871:Ighv2-2 UTSW 12 113588498 missense possibly damaging 0.59
R2874:Ighv2-2 UTSW 12 113588498 missense possibly damaging 0.59
R5036:Ighv2-2 UTSW 12 113588472 missense possibly damaging 0.69
R5677:Ighv2-2 UTSW 12 113588522 missense probably benign 0.00
R7950:Ighv2-2 UTSW 12 113588294 missense probably damaging 1.00
R8346:Ighv2-2 UTSW 12 113588569 nonsense probably null
Posted On2015-04-16