Incidental Mutation 'IGL01609:Unc93a2'
ID 91914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Unc93a2
Ensembl Gene ENSMUSG00000056133
Gene Name unc-93 homolog A2
Synonyms Gm9992
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL01609
Quality Score
Status
Chromosome 17
Chromosomal Location 7630214-7652863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7637138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 130 (V130A)
Ref Sequence ENSEMBL: ENSMUSP00000155918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070059] [ENSMUST00000231397] [ENSMUST00000231922]
AlphaFold B2RWK3
Predicted Effect possibly damaging
Transcript: ENSMUST00000070059
AA Change: V350A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064469
Gene: ENSMUSG00000056133
AA Change: V350A

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: V130A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000231922
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,955,092 (GRCm39) V299A probably benign Het
Actr5 T C 2: 158,478,722 (GRCm39) probably null Het
Arhgap18 A G 10: 26,756,744 (GRCm39) D448G possibly damaging Het
Bcl9 T C 3: 97,116,291 (GRCm39) E801G probably benign Het
Bin1 A G 18: 32,552,978 (GRCm39) N232S probably damaging Het
Brf1 A C 12: 112,927,211 (GRCm39) Y459D probably damaging Het
Clca4a T A 3: 144,659,541 (GRCm39) I772F probably damaging Het
Cyp2a4 G A 7: 26,008,088 (GRCm39) probably null Het
Dync1i2 T A 2: 71,077,352 (GRCm39) probably benign Het
Frem3 T A 8: 81,339,333 (GRCm39) M542K probably benign Het
Gpbp1 T C 13: 111,575,736 (GRCm39) T256A possibly damaging Het
Ighm T C 12: 113,384,854 (GRCm39) probably benign Het
Igkv3-12 A G 6: 70,495,232 (GRCm39) probably benign Het
Kdm4d A G 9: 14,375,714 (GRCm39) V48A probably damaging Het
Lama2 T C 10: 27,220,417 (GRCm39) S483G probably benign Het
Lbp A C 2: 158,170,332 (GRCm39) Q464P probably damaging Het
Lipo4 T C 19: 33,476,654 (GRCm39) T365A probably benign Het
Mark3 T C 12: 111,593,956 (GRCm39) F274S probably damaging Het
Mcm3 A T 1: 20,884,904 (GRCm39) probably benign Het
Mrpl9 T A 3: 94,352,001 (GRCm39) F137I probably damaging Het
Msh4 G T 3: 153,603,034 (GRCm39) A93E probably damaging Het
Mthfd1l T A 10: 3,968,567 (GRCm39) D407E probably benign Het
Or10j7 G A 1: 173,011,843 (GRCm39) H53Y probably benign Het
Or12d12 C T 17: 37,610,629 (GRCm39) R228H probably benign Het
Or1i2 A C 10: 78,447,960 (GRCm39) S172A probably benign Het
Pcsk2 G T 2: 143,643,078 (GRCm39) V452L possibly damaging Het
Pcsk6 G A 7: 65,685,021 (GRCm39) probably null Het
Pmfbp1 A G 8: 110,254,348 (GRCm39) E461G probably benign Het
Pole2 A G 12: 69,254,631 (GRCm39) probably null Het
Postn T C 3: 54,276,649 (GRCm39) M176T probably damaging Het
Prss12 T A 3: 123,276,483 (GRCm39) C371S probably damaging Het
Rnf11 T A 4: 109,314,173 (GRCm39) Q72L possibly damaging Het
Rrad A G 8: 105,356,456 (GRCm39) probably null Het
Slitrk3 T A 3: 72,957,570 (GRCm39) I401F probably damaging Het
Themis A G 10: 28,544,749 (GRCm39) probably benign Het
Tmem45a A G 16: 56,631,928 (GRCm39) I230T probably benign Het
Tnni1 C A 1: 135,733,234 (GRCm39) probably null Het
Trpa1 A T 1: 14,982,607 (GRCm39) I83N probably damaging Het
Uggt1 T C 1: 36,221,555 (GRCm39) Y54C probably damaging Het
Umodl1 C T 17: 31,217,800 (GRCm39) T1202I possibly damaging Het
Usp37 G A 1: 74,514,199 (GRCm39) A324V probably benign Het
Zfp808 T A 13: 62,321,023 (GRCm39) C751S probably damaging Het
Other mutations in Unc93a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Unc93a2 APN 17 7,637,138 (GRCm39) missense probably damaging 1.00
R0893:Unc93a2 UTSW 17 7,641,926 (GRCm39) missense probably damaging 0.98
R5271:Unc93a2 UTSW 17 7,637,081 (GRCm39) missense possibly damaging 0.82
R5326:Unc93a2 UTSW 17 7,637,187 (GRCm39) missense probably benign 0.35
R5542:Unc93a2 UTSW 17 7,637,187 (GRCm39) missense probably benign 0.35
R5567:Unc93a2 UTSW 17 7,631,202 (GRCm39) missense probably benign 0.04
R5750:Unc93a2 UTSW 17 7,637,130 (GRCm39) missense probably benign 0.11
R6465:Unc93a2 UTSW 17 7,641,842 (GRCm39) missense probably damaging 1.00
R6714:Unc93a2 UTSW 17 7,643,937 (GRCm39) missense probably benign 0.05
R7130:Unc93a2 UTSW 17 7,637,824 (GRCm39) missense probably benign 0.16
R7142:Unc93a2 UTSW 17 7,644,021 (GRCm39) missense probably damaging 0.97
R7222:Unc93a2 UTSW 17 7,643,866 (GRCm39) missense probably damaging 1.00
R9359:Unc93a2 UTSW 17 7,641,842 (GRCm39) missense probably damaging 1.00
R9386:Unc93a2 UTSW 17 7,637,164 (GRCm39) nonsense probably null
Z1176:Unc93a2 UTSW 17 7,643,929 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09