Incidental Mutation 'R7222:Gm9992'
ID561905
Institutional Source Beutler Lab
Gene Symbol Gm9992
Ensembl Gene ENSMUSG00000056133
Gene Namepredicted gene 9992
SynonymsUnc93a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #R7222 (G1)
Quality Score158.009
Status Not validated
Chromosome17
Chromosomal Location7362815-7385464 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7376467 bp
ZygosityHeterozygous
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]
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
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,191,693 N1151K probably benign Het
Add3 T C 19: 53,216,846 V9A unknown Het
Ankar A G 1: 72,666,355 I832T probably damaging Het
Arhgef10l C A 4: 140,521,269 W785L probably damaging Het
Atp7b G A 8: 22,022,378 Q490* probably null Het
Chrna5 A G 9: 54,998,063 D53G probably benign Het
Clip1 T A 5: 123,611,841 N993I probably damaging Het
Cyp3a59 A T 5: 146,096,575 probably null Het
Dnah3 T A 7: 120,071,523 N651Y probably benign Het
Dopey1 T C 9: 86,522,876 probably null Het
Eva1c AGGGTGTCCTGTACGAAGGACTTCCGGG AGGG 16: 90,904,184 probably benign Het
Flg T A 3: 93,288,314 S74T unknown Het
Fras1 T C 5: 96,636,186 Y850H probably damaging Het
Fras1 A T 5: 96,636,809 T884S probably benign Het
Fsip2 A G 2: 82,983,671 T3445A probably benign Het
Gm5861 T A 5: 11,183,113 N14K probably damaging Het
Herc1 C A 9: 66,467,499 P3237H probably damaging Het
Ifi35 A G 11: 101,457,515 N123S probably benign Het
Igkv1-117 A T 6: 68,121,749 D94V probably damaging Het
Kif1b T C 4: 149,225,157 D764G probably damaging Het
Lztr1 A G 16: 17,524,132 E657G possibly damaging Het
Mmd2 G T 5: 142,567,927 L160I probably benign Het
Muc2 A T 7: 141,704,209 T15S Het
Muc6 T A 7: 141,634,515 H2835L unknown Het
Myo1h G A 5: 114,355,261 probably null Het
Olfr1173 T A 2: 88,274,465 M195L probably benign Het
Olfr1417 C A 19: 11,828,657 R123L probably damaging Het
Olfr497 A G 7: 108,422,637 D22G probably benign Het
Olfr610 A G 7: 103,506,457 V163A possibly damaging Het
Olfr658 T C 7: 104,644,730 D214G probably damaging Het
Olfr818 A G 10: 129,945,889 Y58H probably damaging Het
Olfr850 A T 9: 19,477,467 V261E probably damaging Het
Osbpl7 A G 11: 97,060,538 T684A probably damaging Het
P2ry14 T C 3: 59,115,382 K219R probably benign Het
Pde4d A T 13: 109,757,579 H156L probably damaging Het
Polq G T 16: 37,086,633 E2319* probably null Het
Ranbp3 T G 17: 56,710,211 V409G probably damaging Het
Sart3 T C 5: 113,746,656 D629G probably benign Het
Selenon T A 4: 134,547,977 T137S possibly damaging Het
Setd2 T A 9: 110,551,462 D55E Het
Slamf8 G A 1: 172,584,208 T240I possibly damaging Het
Slc39a10 A G 1: 46,819,292 L615P possibly damaging Het
Tbce T C 13: 13,998,150 D505G probably damaging Het
Tenm3 C T 8: 48,300,969 G800R probably damaging Het
Terf2ip T C 8: 112,011,915 V145A possibly damaging Het
Tmprss7 T C 16: 45,690,893 I41V probably benign Het
Traj49 A T 14: 54,168,703 N6I Het
Ubr4 T A 4: 139,463,373 S905T unknown Het
Zfp948 T A 17: 21,587,840 H431Q probably damaging Het
Zfyve1 A G 12: 83,555,005 F525L probably benign Het
Other mutations in Gm9992
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Gm9992 APN 17 7369739 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGTGGAAAAGACAACTACTCAGC -3'
(R):5'- GGTCTTTCTGCAGGTACACC -3'

Sequencing Primer
(F):5'- GACAACTACTCAGCCTCCTGG -3'
(R):5'- GGTACACCCTGATCCCTACC -3'
Posted On2019-06-26