Incidental Mutation 'IGL00236:Ighv1-36'
ID306869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-36
Ensembl Gene ENSMUSG00000094051
Gene Nameimmunoglobulin heavy variable 1-36
SynonymsGm16715
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL00236
Quality Score
Status
Chromosome12
Chromosomal Location114879888-114880321 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114880150 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 29 (L29Q)
Ref Sequence ENSEMBL: ENSMUSP00000100294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103513] [ENSMUST00000191862]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103513
AA Change: L29Q

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100294
Gene: ENSMUSG00000094051
AA Change: L29Q

DomainStartEndE-ValueType
IGv 35 116 2.77e-29 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191862
AA Change: L30Q

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142128
Gene: ENSMUSG00000094051
AA Change: L30Q

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 1.1e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195265
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,443,697 V43A probably damaging Het
Ankrd17 A T 5: 90,233,928 S2460T probably damaging Het
Ap4e1 T C 2: 127,028,281 L176P probably damaging Het
Caprin2 A G 6: 148,843,071 I952T probably damaging Het
Cdkl4 A T 17: 80,525,276 probably benign Het
Cfap44 T C 16: 44,407,404 L156P probably damaging Het
Dock9 A G 14: 121,668,468 L90S probably benign Het
Efhb T C 17: 53,462,453 D276G probably damaging Het
Ep300 A G 15: 81,641,418 D1481G unknown Het
Fam83b T C 9: 76,490,978 I948V probably benign Het
Fbxl5 G T 5: 43,765,336 H247N probably damaging Het
Fn1 A G 1: 71,652,873 I37T probably benign Het
Hfe C T 13: 23,705,852 probably benign Het
Inpp5e G T 2: 26,408,521 Q23K probably benign Het
L3mbtl1 T C 2: 162,967,063 S619P probably damaging Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Ntrk1 C T 3: 87,791,438 V99M possibly damaging Het
Olfr1489 A T 19: 13,633,539 I143F probably benign Het
Olfr571 T C 7: 102,909,272 H189R probably damaging Het
Pard6a T C 8: 105,702,814 S135P probably damaging Het
Prss43 G T 9: 110,829,470 Q279H probably benign Het
Ptcd2 T C 13: 99,330,065 N207D probably benign Het
Ros1 T C 10: 52,194,890 I23V probably benign Het
Scg5 A G 2: 113,827,570 probably benign Het
Sh3bp5 T A 14: 31,379,390 K212* probably null Het
Slc25a30 C T 14: 75,766,925 G244D possibly damaging Het
Slc38a10 T C 11: 120,106,602 R689G probably damaging Het
Spatc1 A G 15: 76,284,794 D321G probably damaging Het
Stat4 A T 1: 52,102,878 Y628F probably damaging Het
Wdr35 G A 12: 9,019,900 V813I probably benign Het
Other mutations in Ighv1-36
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5061:Ighv1-36 UTSW 12 114880122 missense probably benign 0.07
R5924:Ighv1-36 UTSW 12 114880157 missense possibly damaging 0.94
R7017:Ighv1-36 UTSW 12 114879913 missense probably damaging 1.00
R8070:Ighv1-36 UTSW 12 114880036 missense probably damaging 1.00
Posted On2015-04-16