Incidental Mutation 'R7441:Gm8267'
ID 576976
Institutional Source Beutler Lab
Gene Symbol Gm8267
Ensembl Gene ENSMUSG00000091923
Gene Name predicted gene 8267
Synonyms
MMRRC Submission 045517-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R7441 (G1)
Quality Score 108.008
Status Not validated
Chromosome 14
Chromosomal Location 44954624-44962444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44960397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 116 (D116V)
Ref Sequence ENSEMBL: ENSMUSP00000129187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165003] [ENSMUST00000169062] [ENSMUST00000226900]
AlphaFold E9Q207
Predicted Effect probably damaging
Transcript: ENSMUST00000165003
AA Change: D116V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129187
Gene: ENSMUSG00000091923
AA Change: D116V

DomainStartEndE-ValueType
Pfam:Takusan 48 128 1.4e-28 PFAM
coiled coil region 144 175 N/A INTRINSIC
transmembrane domain 238 260 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169062
AA Change: D116V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129402
Gene: ENSMUSG00000091923
AA Change: D116V

DomainStartEndE-ValueType
Pfam:Takusan 46 129 4.9e-37 PFAM
low complexity region 187 199 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000226900
AA Change: D116V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,314,845 (GRCm39) S278A possibly damaging Het
Adamts20 T C 15: 94,251,554 (GRCm39) D411G probably damaging Het
Adgrl3 A G 5: 81,871,987 (GRCm39) I894V possibly damaging Het
Adprhl1 C T 8: 13,273,069 (GRCm39) V1230I probably benign Het
Agpat1 T A 17: 34,829,883 (GRCm39) Y77N probably damaging Het
Anpep A G 7: 79,477,392 (GRCm39) V725A possibly damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arhgef2 A G 3: 88,551,262 (GRCm39) R808G probably damaging Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
B3galnt2 G A 13: 14,169,070 (GRCm39) V368M probably benign Het
Bahcc1 T C 11: 120,177,132 (GRCm39) S2007P probably damaging Het
Cyfip2 A T 11: 46,087,254 (GRCm39) I1212N possibly damaging Het
Dnajc16 A T 4: 141,491,124 (GRCm39) D675E probably damaging Het
Dram2 T C 3: 106,462,503 (GRCm39) F4L probably damaging Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Efhb A T 17: 53,708,549 (GRCm39) I707N possibly damaging Het
Eif2ak4 A G 2: 118,302,377 (GRCm39) T1555A probably benign Het
Erc1 G A 6: 119,801,912 (GRCm39) T35I possibly damaging Het
Esr2 C A 12: 76,188,168 (GRCm39) M363I probably benign Het
Etl4 A T 2: 20,749,000 (GRCm39) N446I possibly damaging Het
Evpl T A 11: 116,113,782 (GRCm39) K1303* probably null Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fam186b A G 15: 99,177,970 (GRCm39) L452P probably benign Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gtf3c3 G A 1: 54,459,607 (GRCm39) T385M probably benign Het
Iqgap2 C A 13: 95,764,584 (GRCm39) M1553I probably benign Het
Kcnk1 G T 8: 126,722,307 (GRCm39) G37C probably damaging Het
Kifc3 T C 8: 95,864,615 (GRCm39) M32V probably benign Het
Krt81 C A 15: 101,359,251 (GRCm39) K222N possibly damaging Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Mybbp1a T A 11: 72,342,101 (GRCm39) V1279E probably benign Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Or11g26 A T 14: 50,752,853 (GRCm39) Y64F probably damaging Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pramel12 A G 4: 143,145,410 (GRCm39) Y293C probably benign Het
Ptpn18 T C 1: 34,512,416 (GRCm39) V407A probably benign Het
Ptpn9 T A 9: 56,934,717 (GRCm39) Y160* probably null Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Scn11a C T 9: 119,587,692 (GRCm39) V1351I probably benign Het
Slc26a9 A G 1: 131,690,556 (GRCm39) Y520C probably damaging Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Timd5 G A 11: 46,419,382 (GRCm39) W66* probably null Het
Upf2 A T 2: 6,023,743 (GRCm39) I698F unknown Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Zfp426 T C 9: 20,382,147 (GRCm39) E280G possibly damaging Het
Zfp810 C A 9: 22,190,568 (GRCm39) E78* probably null Het
Zfp937 GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT G 2: 150,080,630 (GRCm39) probably null Het
Other mutations in Gm8267
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Gm8267 APN 14 44,962,412 (GRCm39) missense probably damaging 0.98
IGL02031:Gm8267 APN 14 44,955,374 (GRCm39) missense possibly damaging 0.85
R3619:Gm8267 UTSW 14 44,961,513 (GRCm39) missense possibly damaging 0.95
R4715:Gm8267 UTSW 14 44,955,292 (GRCm39) missense probably benign 0.33
R6599:Gm8267 UTSW 14 44,955,367 (GRCm39) missense possibly damaging 0.86
R7001:Gm8267 UTSW 14 44,960,385 (GRCm39) missense possibly damaging 0.94
R7057:Gm8267 UTSW 14 44,959,481 (GRCm39) missense probably damaging 0.99
R7439:Gm8267 UTSW 14 44,960,397 (GRCm39) missense probably damaging 1.00
R8053:Gm8267 UTSW 14 44,962,307 (GRCm39) missense possibly damaging 0.82
R8313:Gm8267 UTSW 14 44,961,515 (GRCm39) missense probably damaging 0.97
R8721:Gm8267 UTSW 14 44,959,507 (GRCm39) missense possibly damaging 0.94
R9150:Gm8267 UTSW 14 44,955,362 (GRCm39) missense probably benign 0.18
R9464:Gm8267 UTSW 14 44,960,346 (GRCm39) missense probably damaging 0.99
Z1088:Gm8267 UTSW 14 44,962,322 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- AGACCCATGCCTCAAGGGAG -3'
(R):5'- TCAGTACCAATAGGACGAGTTGG -3'

Sequencing Primer
(F):5'- GGAGGGCTCCTATTAAGAAACAG -3'
(R):5'- TACCAATAGGACGAGTTGGAAGGAG -3'
Posted On 2019-10-07