Incidental Mutation 'R0932:Gm8159'
ID 80996
Institutional Source Beutler Lab
Gene Symbol Gm8159
Ensembl Gene ENSMUSG00000094258
Gene Name predicted gene 8159
Synonyms
MMRRC Submission 039076-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0932 (G1)
Quality Score 97
Status Not validated
Chromosome 14
Chromosomal Location 17828971-17837421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4635226 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 148 (R148H)
Ref Sequence ENSEMBL: ENSMUSP00000127748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163738] [ENSMUST00000170546] [ENSMUST00000179231]
AlphaFold E9Q0R1
Predicted Effect probably benign
Transcript: ENSMUST00000163738
AA Change: R148H

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126261
Gene: ENSMUSG00000094258
AA Change: R148H

DomainStartEndE-ValueType
Pfam:Takusan 46 129 8.7e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170546
AA Change: R148H

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127748
Gene: ENSMUSG00000094258
AA Change: R148H

DomainStartEndE-ValueType
Pfam:Takusan 48 128 1.6e-22 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179231
AA Change: R148H

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137635
Gene: ENSMUSG00000094258
AA Change: R148H

DomainStartEndE-ValueType
Pfam:Takusan 46 129 4.6e-32 PFAM
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.2%
  • 20x: 97.1%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,995 (GRCm39) N47S probably benign Het
AA986860 T C 1: 130,665,430 (GRCm39) probably null Het
Akap9 T A 5: 4,096,492 (GRCm39) C2456S possibly damaging Het
Anks3 C T 16: 4,771,691 (GRCm39) R111H probably damaging Het
Atp1a3 A T 7: 24,687,401 (GRCm39) probably null Het
Bahd1 T C 2: 118,746,408 (GRCm39) L9P probably damaging Het
Capn12 T C 7: 28,587,123 (GRCm39) V364A possibly damaging Het
Cds1 T A 5: 101,944,891 (GRCm39) C122S probably damaging Het
Cenpc1 T C 5: 86,185,459 (GRCm39) T351A possibly damaging Het
Cuzd1 T C 7: 130,921,923 (GRCm39) probably benign Het
Daxx T C 17: 34,129,635 (GRCm39) L72P probably damaging Het
Depdc1b A G 13: 108,523,369 (GRCm39) I415V probably benign Het
Dlg2 T C 7: 92,024,845 (GRCm39) V675A probably damaging Het
Dtx4 A G 19: 12,469,515 (GRCm39) V204A probably benign Het
Ganc T C 2: 120,288,610 (GRCm39) V872A probably damaging Het
Gm14403 A T 2: 177,198,810 (GRCm39) R38W probably benign Het
Gm4553 T C 7: 141,719,423 (GRCm39) S2G unknown Het
Gsdmc3 T C 15: 63,730,400 (GRCm39) probably null Het
Ibtk C T 9: 85,617,099 (GRCm39) G158R probably damaging Het
Irx2 T A 13: 72,779,675 (GRCm39) S320T possibly damaging Het
Kctd7 A T 5: 130,180,510 (GRCm39) probably null Het
Kdr T C 5: 76,129,465 (GRCm39) T141A probably benign Het
Krt25 T A 11: 99,212,109 (GRCm39) Q176L possibly damaging Het
Krt71 T C 15: 101,645,195 (GRCm39) N372S probably benign Het
Mllt3 A G 4: 87,707,621 (GRCm39) V446A probably damaging Het
Or1j21 T A 2: 36,683,903 (GRCm39) Y218* probably null Het
Or4k38 A T 2: 111,165,543 (GRCm39) D293E probably benign Het
Or5p4 C T 7: 107,680,727 (GRCm39) T242M probably damaging Het
Or5p52 A C 7: 107,502,397 (GRCm39) T158P possibly damaging Het
Or9e1 T C 11: 58,732,540 (GRCm39) V200A possibly damaging Het
Poldip2 T C 11: 78,403,294 (GRCm39) S18P possibly damaging Het
Ptprd T G 4: 76,055,122 (GRCm39) Q193P probably damaging Het
Reck C T 4: 43,922,838 (GRCm39) T371M possibly damaging Het
Rnf144b G T 13: 47,374,001 (GRCm39) R66L probably null Het
Rpn2 T A 2: 157,125,691 (GRCm39) D67E possibly damaging Het
Scn11a A G 9: 119,636,876 (GRCm39) F275S probably damaging Het
Slc12a5 G A 2: 164,838,805 (GRCm39) probably benign Het
Snapc4 A G 2: 26,264,658 (GRCm39) I253T probably damaging Het
Tppp2 C T 14: 52,157,881 (GRCm39) probably benign Het
Usp9y A C Y: 1,315,930 (GRCm39) N2068K probably benign Het
Vmn2r45 A G 7: 8,478,380 (GRCm39) C536R probably damaging Het
Other mutations in Gm8159
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6422:Gm8159 UTSW 14 15,850,210 (GRCm39) missense probably damaging 0.97
R9499:Gm8159 UTSW 14 15,850,264 (GRCm39) missense probably damaging 1.00
R9552:Gm8159 UTSW 14 15,850,264 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATAAGCCCTCTCCCTGCTGAAG -3'
(R):5'- CATAGGTGAGTGCCTGGAGAAGTTG -3'

Sequencing Primer
(F):5'- CATGAAGAACATTTCCTCTTCTGTG -3'
(R):5'- AGGGCAATCTGCCTCTGATAC -3'
Posted On 2013-11-07