Incidental Mutation 'R6599:Gm8267'
ID 525151
Institutional Source Beutler Lab
Gene Symbol Gm8267
Ensembl Gene ENSMUSG00000091923
Gene Name predicted gene 8267
Synonyms
MMRRC Submission 044723-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R6599 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 44954624-44962444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44955367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 218 (T218K)
Ref Sequence ENSEMBL: ENSMUSP00000153838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165003] [ENSMUST00000169062] [ENSMUST00000226900]
AlphaFold E9Q207
Predicted Effect possibly damaging
Transcript: ENSMUST00000165003
AA Change: T218K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129187
Gene: ENSMUSG00000091923
AA Change: T218K

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 benign
Transcript: ENSMUST00000169062
AA Change: D157E

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129402
Gene: ENSMUSG00000091923
AA Change: D157E

DomainStartEndE-ValueType
Pfam:Takusan 46 129 4.9e-37 PFAM
low complexity region 187 199 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000226900
AA Change: T218K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 94% (32/34)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,250 (GRCm39) H150R probably benign Het
Acbd5 C T 2: 22,959,092 (GRCm39) probably benign Het
Adcyap1r1 G A 6: 55,456,979 (GRCm39) V237M probably damaging Het
Akr1c6 T G 13: 4,499,318 (GRCm39) probably null Het
Ccdc7b T A 8: 129,893,462 (GRCm39) F96L probably benign Het
Cubn T C 2: 13,315,484 (GRCm39) H2983R possibly damaging Het
Dhx40 T A 11: 86,695,175 (GRCm39) I112L possibly damaging Het
Dnmbp A T 19: 43,845,025 (GRCm39) D1070E probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ep300 G C 15: 81,470,914 (GRCm39) D29H unknown Het
Exoc3 T C 13: 74,337,277 (GRCm39) probably null Het
Fcsk A T 8: 111,619,915 (GRCm39) probably null Het
Gm6401 C A 14: 41,788,821 (GRCm39) E83* probably null Het
H1f3 T C 13: 23,739,451 (GRCm39) probably null Het
Hif3a T A 7: 16,776,530 (GRCm39) D470V possibly damaging Het
Igf2r T C 17: 12,917,505 (GRCm39) S1526G possibly damaging Het
Lrp2 T C 2: 69,299,749 (GRCm39) D3101G probably damaging Het
Megf6 A G 4: 154,342,544 (GRCm39) probably null Het
Mthfs G A 9: 89,121,961 (GRCm39) G149D probably damaging Het
Nnmt T C 9: 48,514,669 (GRCm39) D116G probably benign Het
Nqo2 T C 13: 34,163,539 (GRCm39) F22S probably damaging Het
Or1e29 T A 11: 73,667,506 (GRCm39) M216L probably benign Het
Or7e175 T C 9: 20,049,239 (GRCm39) S276P probably damaging Het
Parm1 T C 5: 91,741,718 (GRCm39) S29P possibly damaging Het
Prokr2 C T 2: 132,215,469 (GRCm39) V331M possibly damaging Het
Ptch1 T A 13: 63,670,918 (GRCm39) I871F probably damaging Het
Rps6ka5 C A 12: 100,564,168 (GRCm39) G227V probably damaging Het
Tcaim C T 9: 122,663,844 (GRCm39) Q445* probably null Het
Trappc14 G T 5: 138,261,720 (GRCm39) probably null Het
Trpc7 T C 13: 56,958,193 (GRCm39) probably null Het
Ubxn7 A G 16: 32,203,743 (GRCm39) E465G probably damaging Het
Unk G A 11: 115,938,628 (GRCm39) R77Q probably damaging Het
Vmn1r226 A T 17: 20,908,551 (GRCm39) N261I probably benign Het
Vmn1r87 T A 7: 12,865,886 (GRCm39) K134* probably null Het
Vmn2r10 T A 5: 109,143,944 (GRCm39) I669L probably benign Het
Vmn2r115 A G 17: 23,565,006 (GRCm39) I298V probably benign Het
Yipf2 T C 9: 21,501,144 (GRCm39) K85E probably damaging Het
Zfp979 A T 4: 147,698,083 (GRCm39) C209S probably benign 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
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
R7441: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'- TAGCTCTTGATGTGCCTCAGC -3'
(R):5'- ATGACACTTGGGGATGCAGG -3'

Sequencing Primer
(F):5'- AGCACATGTCTGAATTCCTCTACATG -3'
(R):5'- ATGCAGGGAATGACCTCAGCC -3'
Posted On 2018-06-22