Incidental Mutation 'IGL00964:Gm14085'
ID26978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm14085
Ensembl Gene ENSMUSG00000079071
Gene Namepredicted gene 14085
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL00964
Quality Score
Status
Chromosome2
Chromosomal Location122484941-122528040 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 122517046 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Histidine at position 229 (Q229H)
Ref Sequence ENSEMBL: ENSMUSP00000106150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110521]
Predicted Effect probably damaging
Transcript: ENSMUST00000110521
AA Change: Q229H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: Q229H

DomainStartEndE-ValueType
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 149 166 N/A INTRINSIC
Pfam:Nucleos_tra2_N 180 253 2.3e-28 PFAM
Pfam:Gate 260 360 1.7e-10 PFAM
Pfam:Nucleos_tra2_C 363 587 4.6e-70 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik T A 7: 44,360,186 *197C probably null Het
4930432K21Rik T C 8: 84,166,714 I170T probably benign Het
Acsl6 A G 11: 54,325,646 Y213C probably damaging Het
Agt T C 8: 124,557,895 probably benign Het
Aifm3 A G 16: 17,500,364 D144G probably damaging Het
Alad T C 4: 62,514,093 I32V probably benign Het
Astn2 T A 4: 66,185,187 M330L unknown Het
AU040320 T A 4: 126,854,406 C1029* probably null Het
Brca2 T A 5: 150,532,310 I172N probably damaging Het
Cdk5rap3 A G 11: 96,909,939 probably null Het
Dusp26 G T 8: 31,094,108 R81L probably benign Het
Dync2h1 T C 9: 7,174,881 probably benign Het
Ehd4 A G 2: 120,127,682 C141R probably benign Het
Ftsj3 G T 11: 106,253,115 A261D probably benign Het
Gm5431 G A 11: 48,889,267 T554I probably damaging Het
Hyls1 A G 9: 35,562,112 probably benign Het
Ifi213 T A 1: 173,593,952 T124S possibly damaging Het
Ints10 T A 8: 68,811,986 I457N probably damaging Het
Klk1b1 T G 7: 43,971,169 S228A possibly damaging Het
Lpar2 T C 8: 69,826,512 S319P probably benign Het
Lsr T C 7: 30,971,996 N104S probably damaging Het
Mybpc1 T A 10: 88,555,742 probably null Het
Nalcn T A 14: 123,295,384 probably benign Het
Ovol2 G A 2: 144,305,679 A217V probably damaging Het
Pcdh12 T A 18: 38,282,731 Q447L probably benign Het
Pdgfra T C 5: 75,175,065 I453T probably damaging Het
Ptprd C T 4: 75,998,556 W1037* probably null Het
Rabgef1 T C 5: 130,191,022 S109P probably damaging Het
Rev3l T C 10: 39,864,806 I2995T probably benign Het
Slamf6 T A 1: 171,917,780 C25S probably null Het
Sorbs2 A C 8: 45,795,677 N520T probably damaging Het
Spr-ps1 C A 6: 85,155,034 noncoding transcript Het
Stx4a A G 7: 127,842,726 Q92R probably benign Het
Tab2 A C 10: 7,910,073 V638G probably benign Het
Trim41 C A 11: 48,812,363 R79S possibly damaging Het
Ttll5 A G 12: 85,849,283 Y135C possibly damaging Het
Zan T C 5: 137,405,941 probably benign Het
Zdhhc14 T A 17: 5,712,481 L220Q probably damaging Het
Other mutations in Gm14085
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Gm14085 APN 2 122524796 critical splice acceptor site probably null
IGL01838:Gm14085 APN 2 122517983 missense possibly damaging 0.65
IGL01895:Gm14085 APN 2 122525091 missense possibly damaging 0.75
IGL02999:Gm14085 APN 2 122514514 splice site probably benign
Wilted UTSW 2 122523482 missense probably damaging 1.00
K2124:Gm14085 UTSW 2 122525153 missense probably benign 0.00
R0084:Gm14085 UTSW 2 122522833 missense possibly damaging 0.95
R0092:Gm14085 UTSW 2 122517597 splice site probably benign
R0127:Gm14085 UTSW 2 122517069 critical splice donor site probably null
R0200:Gm14085 UTSW 2 122527447 makesense probably null
R0276:Gm14085 UTSW 2 122521928 missense probably damaging 1.00
R0309:Gm14085 UTSW 2 122517553 missense probably benign 0.04
R0403:Gm14085 UTSW 2 122521854 missense probably damaging 1.00
R0600:Gm14085 UTSW 2 122514398 missense probably damaging 0.97
R0612:Gm14085 UTSW 2 122521698 missense probably damaging 1.00
R1676:Gm14085 UTSW 2 122521859 missense probably damaging 0.99
R1801:Gm14085 UTSW 2 122521652 missense possibly damaging 0.57
R1986:Gm14085 UTSW 2 122527429 missense probably benign 0.00
R2050:Gm14085 UTSW 2 122522868 missense probably benign 0.21
R3078:Gm14085 UTSW 2 122514414 missense possibly damaging 0.63
R4075:Gm14085 UTSW 2 122514411 missense probably benign 0.00
R4096:Gm14085 UTSW 2 122522728 missense probably damaging 1.00
R4744:Gm14085 UTSW 2 122522805 nonsense probably null
R4796:Gm14085 UTSW 2 122514459 missense probably damaging 0.99
R5033:Gm14085 UTSW 2 122522914 critical splice donor site probably null
R5069:Gm14085 UTSW 2 122494373 missense possibly damaging 0.93
R5288:Gm14085 UTSW 2 122522778 missense probably benign 0.01
R5385:Gm14085 UTSW 2 122522778 missense probably benign 0.01
R5386:Gm14085 UTSW 2 122522778 missense probably benign 0.01
R5442:Gm14085 UTSW 2 122486869 missense probably benign
R5795:Gm14085 UTSW 2 122517994 missense possibly damaging 0.79
R6258:Gm14085 UTSW 2 122523482 missense probably damaging 1.00
R6260:Gm14085 UTSW 2 122523482 missense probably damaging 1.00
R6383:Gm14085 UTSW 2 122524807 missense probably benign 0.00
R7226:Gm14085 UTSW 2 122522532 missense probably benign 0.00
R7574:Gm14085 UTSW 2 122522844 missense not run
R7633:Gm14085 UTSW 2 122486680 missense probably null 0.05
R7705:Gm14085 UTSW 2 122521629 critical splice acceptor site probably null
R7726:Gm14085 UTSW 2 122486733 missense probably damaging 0.99
R7998:Gm14085 UTSW 2 122494358 missense probably damaging 0.97
R8269:Gm14085 UTSW 2 122521688 missense probably damaging 1.00
R8337:Gm14085 UTSW 2 122525136 missense probably benign 0.06
R8546:Gm14085 UTSW 2 122522754 missense probably benign 0.14
R8817:Gm14085 UTSW 2 122518507 missense possibly damaging 0.95
Posted On2013-04-17