Incidental Mutation 'IGL01685:Ighv14-2'
ID103915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv14-2
Ensembl Gene ENSMUSG00000095583
Gene Nameimmunoglobulin heavy variable 14-2
SynonymsGm16683
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.418) question?
Stock #IGL01685
Quality Score
Status
Chromosome12
Chromosomal Location113994469-113994898 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 113994501 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 107 (S107T)
Ref Sequence ENSEMBL: ENSMUSP00000100248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103467]
Predicted Effect probably damaging
Transcript: ENSMUST00000103467
AA Change: S107T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100248
Gene: ENSMUSG00000095583
AA Change: S107T

DomainStartEndE-ValueType
IGv 36 117 5.95e-29 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,403,446 R66S possibly damaging Het
Adamtsl4 A G 3: 95,684,595 V61A possibly damaging Het
Arnt A G 3: 95,474,681 Y195C probably damaging Het
Brd3 A G 2: 27,459,488 I351T probably damaging Het
Cd28 T A 1: 60,763,148 Y75* probably null Het
Cyfip2 A G 11: 46,207,488 probably benign Het
Dip2a T G 10: 76,327,749 E39A probably damaging Het
Dst T C 1: 34,170,452 V1200A probably damaging Het
Dync2h1 A G 9: 7,142,297 L1216P probably damaging Het
Ecm2 A T 13: 49,528,898 I468F probably damaging Het
Gucy1b1 C A 3: 82,035,285 V517F probably benign Het
H2afy2 C T 10: 61,757,771 S42N probably damaging Het
H2-T23 T C 17: 36,032,644 Q9R probably benign Het
Huwe1 T C X: 151,898,670 probably benign Het
Hydin A T 8: 110,355,033 K354* probably null Het
Klk1b8 A C 7: 43,954,870 K254T possibly damaging Het
Lama3 T A 18: 12,453,880 probably benign Het
Mbd6 G T 10: 127,284,732 probably benign Het
Mob1a A T 6: 83,332,503 E32D probably benign Het
Mrps27 A T 13: 99,414,920 Q397L possibly damaging Het
Olfr147 T C 9: 38,403,021 I46T possibly damaging Het
Pcdhb18 A C 18: 37,491,931 K771N probably benign Het
Pcdhgc5 T G 18: 37,821,755 L694R probably damaging Het
Pi4ka A T 16: 17,325,202 D815E probably benign Het
Plin4 T C 17: 56,107,362 K88E probably damaging Het
Rint1 A T 5: 23,787,834 probably benign Het
Ssbp1 A G 6: 40,476,765 T82A probably damaging Het
Trpm5 A T 7: 143,082,354 S558T probably benign Het
Tti1 A G 2: 158,000,785 S775P probably benign Het
Zic3 T C X: 58,031,728 V183A probably benign Het
Other mutations in Ighv14-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Ighv14-2 APN 12 113994759 missense possibly damaging 0.47
IGL02994:Ighv14-2 APN 12 113994591 missense probably benign 0.10
IGL03222:Ighv14-2 APN 12 113994494 missense possibly damaging 0.94
R4537:Ighv14-2 UTSW 12 113994892 missense probably benign 0.27
R6004:Ighv14-2 UTSW 12 113994635 missense probably damaging 0.98
R6294:Ighv14-2 UTSW 12 113994598 missense probably benign 0.01
Posted On2014-01-21