Incidental Mutation 'IGL00913:Gm9992'
ID29261
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm9992
Ensembl Gene ENSMUSG00000056133
Gene Namepredicted gene 9992
SynonymsUnc93a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL00913
Quality Score
Status
Chromosome17
Chromosomal Location7362815-7385464 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 7369739 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 130 (V130D)
Ref Sequence ENSEMBL: ENSMUSP00000155918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070059] [ENSMUST00000231397] [ENSMUST00000231922]
Predicted Effect probably damaging
Transcript: ENSMUST00000070059
AA Change: V350D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064469
Gene: ENSMUSG00000056133
AA Change: V350D

DomainStartEndE-ValueType
Pfam:UNC-93 11 168 2.7e-16 PFAM
transmembrane domain 199 221 N/A INTRINSIC
low complexity region 235 241 N/A INTRINSIC
transmembrane domain 258 275 N/A INTRINSIC
transmembrane domain 290 312 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
transmembrane domain 394 416 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178099
Predicted Effect probably damaging
Transcript: ENSMUST00000231397
AA Change: V130D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231922
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 A G 17: 42,666,902 S517P possibly damaging Het
Arl4c T C 1: 88,701,384 D94G probably damaging Het
Bag5 T C 12: 111,711,332 E19G probably damaging Het
Carf T A 1: 60,147,955 D537E probably benign Het
Cd177 C A 7: 24,756,195 D301Y probably damaging Het
Csmd1 C T 8: 16,071,287 V1799I probably benign Het
Cyp4x1 T A 4: 115,112,863 I356F probably benign Het
Elmsan1 T A 12: 84,172,858 I441L probably benign Het
F5 A T 1: 164,204,896 H1804L probably damaging Het
Fras1 G T 5: 96,695,076 G1718C probably damaging Het
Ganc T C 2: 120,439,452 probably benign Het
Hs3st5 A G 10: 36,832,850 D127G probably damaging Het
Inpp5a A G 7: 139,516,721 D154G probably benign Het
Kif16b T A 2: 142,704,007 R1134* probably null Het
Lrrc66 C T 5: 73,608,156 A515T possibly damaging Het
Map3k10 C T 7: 27,663,215 probably benign Het
Mrpl12 G A 11: 120,485,376 D71N possibly damaging Het
Nfix A T 8: 84,726,477 V316E probably damaging Het
Nop2 A G 6: 125,139,821 Y346C probably damaging Het
Nrbp1 A G 5: 31,251,059 E513G possibly damaging Het
Ogfrl1 T C 1: 23,370,090 I352V probably benign Het
Olfr1351 A G 10: 79,018,251 T310A probably benign Het
Olfr912 T A 9: 38,581,376 V33E probably damaging Het
Oxr1 G A 15: 41,820,143 V15I possibly damaging Het
Pik3r6 T G 11: 68,551,321 F697C probably damaging Het
Ptk2 A G 15: 73,295,389 probably benign Het
Rnft2 G A 5: 118,201,215 T380M probably damaging Het
Scel A G 14: 103,581,809 N346S probably benign Het
Sema4a T A 3: 88,449,810 T153S probably damaging Het
Serinc2 A T 4: 130,264,408 L82Q possibly damaging Het
Sin3a A G 9: 57,098,118 T392A probably benign Het
Slc25a38 T A 9: 120,120,307 Y108* probably null Het
Tmc8 G A 11: 117,786,504 G317R probably damaging Het
Trpc3 A G 3: 36,640,639 V722A possibly damaging Het
Other mutations in Gm9992
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Gm9992 APN 17 7369739 missense probably damaging 0.96
R0893:Gm9992 UTSW 17 7374527 missense probably damaging 0.98
R5271:Gm9992 UTSW 17 7369682 missense possibly damaging 0.82
R5326:Gm9992 UTSW 17 7369788 missense probably benign 0.35
R5542:Gm9992 UTSW 17 7369788 missense probably benign 0.35
R5567:Gm9992 UTSW 17 7363803 missense probably benign 0.04
R5750:Gm9992 UTSW 17 7369731 missense probably benign 0.11
R6465:Gm9992 UTSW 17 7374443 missense probably damaging 1.00
R6714:Gm9992 UTSW 17 7376538 missense probably benign 0.05
R7130:Gm9992 UTSW 17 7370425 missense probably benign 0.16
R7142:Gm9992 UTSW 17 7376622 missense probably damaging 0.97
R7222:Gm9992 UTSW 17 7376467 missense probably damaging 1.00
Posted On2013-04-17