Incidental Mutation 'R6465:Unc93a2'
ID 517796
Institutional Source Beutler Lab
Gene Symbol Unc93a2
Ensembl Gene ENSMUSG00000056133
Gene Name unc-93 homolog A2
Synonyms Gm9992
MMRRC Submission 044598-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6465 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 7630214-7652863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 7641842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 202 (T202K)
Ref Sequence ENSEMBL: ENSMUSP00000064469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070059] [ENSMUST00000231397] [ENSMUST00000231922]
AlphaFold B2RWK3
Predicted Effect probably damaging
Transcript: ENSMUST00000070059
AA Change: T202K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064469
Gene: ENSMUSG00000056133
AA Change: T202K

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 benign
Transcript: ENSMUST00000231397
Predicted Effect probably benign
Transcript: ENSMUST00000231922
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G A 6: 128,518,041 (GRCm39) T1415I probably damaging Het
Acvr2b T A 9: 119,262,369 (GRCm39) W461R probably damaging Het
Adam23 G T 1: 63,605,827 (GRCm39) C637F probably damaging Het
Apol8 T G 15: 77,634,148 (GRCm39) T143P probably benign Het
Bfsp1 A C 2: 143,699,975 (GRCm39) probably null Het
Cytl1 T C 5: 37,895,014 (GRCm39) V99A probably benign Het
Dock2 A T 11: 34,453,413 (GRCm39) V793E probably damaging Het
Fxyd5 G T 7: 30,737,305 (GRCm39) T81K probably damaging Het
Gcm1 A G 9: 77,972,151 (GRCm39) Y364C probably damaging Het
Get3 A T 8: 85,745,194 (GRCm39) M291K probably benign Het
Haghl T C 17: 26,002,793 (GRCm39) N190S possibly damaging Het
Inpp5j C A 11: 3,452,293 (GRCm39) R319L possibly damaging Het
Ints10 A G 8: 69,260,188 (GRCm39) N304S probably benign Het
Isoc1 T A 18: 58,804,328 (GRCm39) C119S probably damaging Het
Klhl18 A G 9: 110,257,988 (GRCm39) M414T probably benign Het
Krtap2-4 A G 11: 99,505,585 (GRCm39) probably benign Het
Krtap3-1 G A 11: 99,457,277 (GRCm39) P45S possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo7a A G 7: 97,711,887 (GRCm39) V1754A possibly damaging Het
Nedd4l T A 18: 65,288,335 (GRCm39) D119E probably benign Het
Nsun7 T C 5: 66,452,929 (GRCm39) V548A probably benign Het
Or5m12 A T 2: 85,734,883 (GRCm39) S172T probably benign Het
Or6b6 A T 7: 106,571,419 (GRCm39) V44E possibly damaging Het
Parvg A G 15: 84,213,141 (GRCm39) D127G probably damaging Het
Pate13 A T 9: 35,819,921 (GRCm39) N25Y possibly damaging Het
Piezo2 T A 18: 63,174,734 (GRCm39) M2007L possibly damaging Het
Pou2f3 A C 9: 43,051,162 (GRCm39) F175V probably damaging Het
Ptprn2 T C 12: 117,233,209 (GRCm39) I958T probably damaging Het
Pwwp2b T C 7: 138,835,951 (GRCm39) V464A probably benign Het
Pzp A G 6: 128,468,582 (GRCm39) Y982H probably damaging Het
Rad17 T A 13: 100,773,588 (GRCm39) N202I probably benign Het
Rtel1 T A 2: 180,977,733 (GRCm39) D271E possibly damaging Het
Sos2 T C 12: 69,643,549 (GRCm39) S943G probably benign Het
Tdpoz6 A G 3: 93,600,303 (GRCm39) I22T probably damaging Het
Tm9sf2 A G 14: 122,378,619 (GRCm39) H241R probably benign Het
Ttc8 A G 12: 98,930,829 (GRCm39) E291G probably damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Ylpm1 T A 12: 85,096,576 (GRCm39) D1219E probably damaging Het
Zc3hav1 T C 6: 38,308,784 (GRCm39) Y586C possibly damaging Het
Zcchc4 T A 5: 52,976,618 (GRCm39) F471I probably benign Het
Zfp719 C A 7: 43,240,108 (GRCm39) Y565* probably null Het
Other mutations in Unc93a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Unc93a2 APN 17 7,637,138 (GRCm39) missense probably damaging 1.00
IGL01609:Unc93a2 APN 17 7,637,138 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- GCCTAGTCCTATAACTGGTAGGGC -3'
(R):5'- CATACTTTGACCGCTGACTTCG -3'

Sequencing Primer
(F):5'- CTGCACGTTTGGGAAAAATCAC -3'
(R):5'- GCTGACTTCGGCCTTAGGTC -3'
Posted On 2018-05-21