Incidental Mutation 'R7222:Unc93a2'
ID 561905
Institutional Source Beutler Lab
Gene Symbol Unc93a2
Ensembl Gene ENSMUSG00000056133
Gene Name unc-93 homolog A2
Synonyms Gm9992
MMRRC Submission 045294-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R7222 (G1)
Quality Score 158.009
Status Not validated
Chromosome 17
Chromosomal Location 7630214-7652863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7643866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 148 (S148P)
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: S148P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064469
Gene: ENSMUSG00000056133
AA Change: S148P

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 probably benign
Transcript: ENSMUST00000231397
Predicted Effect probably benign
Transcript: ENSMUST00000231922
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,082,519 (GRCm39) N1151K probably benign Het
Add3 T C 19: 53,205,277 (GRCm39) V9A unknown Het
Ankar A G 1: 72,705,514 (GRCm39) I832T probably damaging Het
Arhgef10l C A 4: 140,248,580 (GRCm39) W785L probably damaging Het
Atp7b G A 8: 22,512,394 (GRCm39) Q490* probably null Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clip1 T A 5: 123,749,904 (GRCm39) N993I probably damaging Het
Cyp3a59 A T 5: 146,033,385 (GRCm39) probably null Het
Dnah3 T A 7: 119,670,746 (GRCm39) N651Y probably benign Het
Dop1a T C 9: 86,404,929 (GRCm39) probably null Het
Eva1c AGGGTGTCCTGTACGAAGGACTTCCGGG AGGG 16: 90,701,072 (GRCm39) probably benign Het
Flg T A 3: 93,195,621 (GRCm39) S74T unknown Het
Fras1 T C 5: 96,784,045 (GRCm39) Y850H probably damaging Het
Fras1 A T 5: 96,784,668 (GRCm39) T884S probably benign Het
Fsip2 A G 2: 82,814,015 (GRCm39) T3445A probably benign Het
Herc1 C A 9: 66,374,781 (GRCm39) P3237H probably damaging Het
Ifi35 A G 11: 101,348,341 (GRCm39) N123S probably benign Het
Igkv1-117 A T 6: 68,098,733 (GRCm39) D94V probably damaging Het
Kif1b T C 4: 149,309,614 (GRCm39) D764G probably damaging Het
Lztr1 A G 16: 17,341,996 (GRCm39) E657G possibly damaging Het
Mmd2 G T 5: 142,553,682 (GRCm39) L160I probably benign Het
Muc2 A T 7: 141,290,758 (GRCm39) T15S Het
Muc6 T A 7: 141,214,428 (GRCm39) H2835L unknown Het
Myo1h G A 5: 114,493,322 (GRCm39) probably null Het
Or10v5 C A 19: 11,806,021 (GRCm39) R123L probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or52n4 T C 7: 104,293,937 (GRCm39) D214G probably damaging Het
Or5d43 T A 2: 88,104,809 (GRCm39) M195L probably benign Het
Or5p72 A G 7: 108,021,844 (GRCm39) D22G probably benign Het
Or6c219 A G 10: 129,781,758 (GRCm39) Y58H probably damaging Het
Or7g32 A T 9: 19,388,763 (GRCm39) V261E probably damaging Het
Osbpl7 A G 11: 96,951,364 (GRCm39) T684A probably damaging Het
P2ry14 T C 3: 59,022,803 (GRCm39) K219R probably benign Het
Pde4d A T 13: 109,894,113 (GRCm39) H156L probably damaging Het
Polq G T 16: 36,906,995 (GRCm39) E2319* probably null Het
Ranbp3 T G 17: 57,017,211 (GRCm39) V409G probably damaging Het
Sart3 T C 5: 113,884,717 (GRCm39) D629G probably benign Het
Selenon T A 4: 134,275,288 (GRCm39) T137S possibly damaging Het
Setd2 T A 9: 110,380,530 (GRCm39) D55E Het
Slamf8 G A 1: 172,411,775 (GRCm39) T240I possibly damaging Het
Slc39a10 A G 1: 46,858,452 (GRCm39) L615P possibly damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tbce T C 13: 14,172,735 (GRCm39) D505G probably damaging Het
Tenm3 C T 8: 48,754,004 (GRCm39) G800R probably damaging Het
Terf2ip T C 8: 112,738,547 (GRCm39) V145A possibly damaging Het
Tmprss7 T C 16: 45,511,256 (GRCm39) I41V probably benign Het
Traj49 A T 14: 54,406,160 (GRCm39) N6I Het
Trim30a T C 7: 104,070,639 (GRCm39) probably null Het
Ubr4 T A 4: 139,190,684 (GRCm39) S905T unknown Het
Zfp948 T A 17: 21,808,102 (GRCm39) H431Q probably damaging Het
Zfyve1 A G 12: 83,601,779 (GRCm39) F525L probably benign 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
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
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'- TGTGGAAAAGACAACTACTCAGC -3'
(R):5'- GGTCTTTCTGCAGGTACACC -3'

Sequencing Primer
(F):5'- GACAACTACTCAGCCTCCTGG -3'
(R):5'- GGTACACCCTGATCCCTACC -3'
Posted On 2019-06-26