Incidental Mutation 'IGL03334:Ighv2-9-1'
ID416950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv2-9-1
Ensembl Gene ENSMUSG00000095565
Gene Nameimmunoglobulin heavy variable 2-9-1
SynonymsGm16595
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03334
Quality Score
Status
Chromosome12
Chromosomal Location113769850-113770302 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113769923 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 93 (S93P)
Ref Sequence ENSEMBL: ENSMUSP00000136606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180013]
Predicted Effect probably benign
Transcript: ENSMUST00000180013
AA Change: S93P

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000136606
Gene: ENSMUSG00000095565
AA Change: S93P

DomainStartEndE-ValueType
IGv 36 116 2.17e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193757
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,947,475 F762L probably benign Het
A430078G23Rik A T 8: 3,388,023 I286F probably benign Het
Angpt1 T A 15: 42,496,412 E208V possibly damaging Het
Arhgef5 T C 6: 43,274,000 S562P possibly damaging Het
Asb6 T C 2: 30,824,484 T205A probably benign Het
B4galnt4 G A 7: 141,067,441 probably null Het
Clca4a A T 3: 144,953,866 M743K probably benign Het
Col14a1 T C 15: 55,448,821 probably benign Het
Col27a1 A T 4: 63,314,722 Y359F probably damaging Het
Dhcr7 T A 7: 143,840,497 V125D possibly damaging Het
Ercc3 T C 18: 32,240,837 probably null Het
Fnbp1l A G 3: 122,557,949 V315A probably benign Het
Gm17174 T A 14: 51,591,963 R48* probably null Het
Golga4 C T 9: 118,537,233 probably benign Het
Grin1 C T 2: 25,298,393 probably null Het
Ifi203 T A 1: 173,937,835 K58* probably null Het
Il27ra A G 8: 84,031,122 V594A probably benign Het
Krr1 T G 10: 111,980,054 S275R probably benign Het
Lars T C 18: 42,221,506 D792G probably benign Het
Myo1f G A 17: 33,598,194 R737H probably damaging Het
Nebl T A 2: 17,413,711 H292L probably damaging Het
Nell1 C A 7: 50,062,611 probably null Het
Nktr T C 9: 121,748,176 F412L probably benign Het
Nlrp3 T A 11: 59,549,016 I473N probably damaging Het
Olfr338 T C 2: 36,377,051 Y92H possibly damaging Het
Phf3 A G 1: 30,805,729 V1383A probably damaging Het
Prss48 T C 3: 85,997,318 E191G probably damaging Het
Psg25 T A 7: 18,529,774 L41F probably benign Het
Sema3b A G 9: 107,604,077 L78P probably damaging Het
Spen G T 4: 141,469,969 N3496K probably damaging Het
Tbk1 A T 10: 121,584,199 H28Q possibly damaging Het
Trpv3 T A 11: 73,281,665 probably benign Het
Vmn1r218 T C 13: 23,136,618 L45P probably damaging Het
Vmn2r35 T A 7: 7,786,494 Y748F probably damaging Het
Vps18 C T 2: 119,297,482 R929W probably damaging Het
Xpnpep1 T C 19: 53,010,146 K224E probably damaging Het
Zbed5 T A 5: 129,902,355 F382I possibly damaging Het
Other mutations in Ighv2-9-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01753:Ighv2-9-1 APN 12 113769928 missense probably damaging 1.00
IGL02416:Ighv2-9-1 APN 12 113770111 missense probably damaging 1.00
IGL03282:Ighv2-9-1 APN 12 113769865 missense probably damaging 1.00
R6932:Ighv2-9-1 UTSW 12 113770072 missense probably damaging 0.99
Posted On2016-08-02