Incidental Mutation 'R4602:Gm8257'
ID 345741
Institutional Source Beutler Lab
Gene Symbol Gm8257
Ensembl Gene ENSMUSG00000079265
Gene Name predicted pseudogene 8257
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4602 (G1)
Quality Score 193
Status Not validated
Chromosome 14
Chromosomal Location 44886989-44894814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44893774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 62 (Y62H)
Ref Sequence ENSEMBL: ENSMUSP00000136936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111860] [ENSMUST00000169583] [ENSMUST00000179215]
AlphaFold E9Q8R3
Predicted Effect probably benign
Transcript: ENSMUST00000111860
AA Change: Y61H

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107491
Gene: ENSMUSG00000079265
AA Change: Y61H

DomainStartEndE-ValueType
Pfam:Takusan 10 93 6.4e-35 PFAM
coiled coil region 108 141 N/A INTRINSIC
transmembrane domain 201 223 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169583
AA Change: Y97H

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128723
Gene: ENSMUSG00000079265
AA Change: Y97H

DomainStartEndE-ValueType
Pfam:Takusan 48 128 3.5e-27 PFAM
coiled coil region 144 177 N/A INTRINSIC
transmembrane domain 237 259 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179215
AA Change: Y62H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136936
Gene: ENSMUSG00000079265
AA Change: Y62H

DomainStartEndE-ValueType
Pfam:Takusan 11 94 8.9e-36 PFAM
coiled coil region 109 142 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,988,189 (GRCm39) K3158E possibly damaging Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Ankmy1 A T 1: 92,816,372 (GRCm39) N247K probably benign Het
Atp1a1 A G 3: 101,494,259 (GRCm39) V447A probably benign Het
Atp1a4 A C 1: 172,067,332 (GRCm39) M600R probably damaging Het
Baat A G 4: 49,502,727 (GRCm39) Y132H probably damaging Het
Ceacam15 A G 7: 16,405,906 (GRCm39) V215A probably damaging Het
Celf2 G T 2: 6,590,831 (GRCm39) N279K possibly damaging Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Clec14a C T 12: 58,314,767 (GRCm39) R285H probably benign Het
Ctnna1 T G 18: 35,312,880 (GRCm39) I244R possibly damaging Het
Dcxr T A 11: 120,617,130 (GRCm39) N105Y possibly damaging Het
Dnajc6 T C 4: 101,468,461 (GRCm39) F166L probably damaging Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Faf1 A G 4: 109,584,625 (GRCm39) D67G probably benign Het
Fancm G A 12: 65,171,718 (GRCm39) R1786H probably benign Het
Fnbp1 A G 2: 30,926,552 (GRCm39) probably null Het
Frem2 A G 3: 53,455,228 (GRCm39) L2116S possibly damaging Het
Gbp5 A G 3: 142,209,546 (GRCm39) E164G probably benign Het
Gm4922 A T 10: 18,660,007 (GRCm39) Y238* probably null Het
Grin2b A G 6: 135,755,739 (GRCm39) F525S probably damaging Het
Hjv T G 3: 96,434,869 (GRCm39) S203A probably benign Het
Hsd17b3 C A 13: 64,210,984 (GRCm39) probably null Het
Ighv1-23 T A 12: 114,728,179 (GRCm39) Q81L probably benign Het
Inpp4b T C 8: 82,696,164 (GRCm39) V366A probably damaging Het
Jak1 G T 4: 101,036,791 (GRCm39) A283D possibly damaging Het
Kmt2d G T 15: 98,748,140 (GRCm39) probably benign Het
Mbtps1 A T 8: 120,262,086 (GRCm39) D354E probably damaging Het
Mettl17 T C 14: 52,126,246 (GRCm39) V218A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nfat5 C T 8: 108,093,855 (GRCm39) Q699* probably null Het
Or4s2b G A 2: 88,508,240 (GRCm39) V14I probably benign Het
Or4s2b T G 2: 88,508,523 (GRCm39) V101G probably benign Het
Or7e174 C A 9: 20,012,540 (GRCm39) H162N probably benign Het
Osbpl7 C A 11: 96,947,095 (GRCm39) S265R possibly damaging Het
Pcdh15 A G 10: 74,430,046 (GRCm39) T1258A probably damaging Het
Pcdh20 A T 14: 88,705,866 (GRCm39) L478Q probably damaging Het
Pde11a A G 2: 75,988,677 (GRCm39) V488A probably benign Het
Phactr1 A T 13: 43,248,441 (GRCm39) E463D probably benign Het
Phaf1 C A 8: 105,973,520 (GRCm39) N282K possibly damaging Het
Samd9l A T 6: 3,373,935 (GRCm39) Y1109N probably damaging Het
Samd9l GAA GAAA 6: 3,373,937 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Sgk2 G A 2: 162,836,674 (GRCm39) probably null Het
Slco1a6 C A 6: 142,047,378 (GRCm39) C404F probably benign Het
Spaca6 C T 17: 18,051,387 (GRCm39) A21V probably damaging Het
Sphkap G T 1: 83,256,782 (GRCm39) Y322* probably null Het
Sptlc3 G A 2: 139,478,600 (GRCm39) V520I probably benign Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Syt9 A T 7: 107,035,594 (GRCm39) K204* probably null Het
Taf3 A G 2: 9,957,468 (GRCm39) V233A probably damaging Het
Tbccd1 T C 16: 22,637,285 (GRCm39) probably null Het
Tdrd5 T A 1: 156,111,944 (GRCm39) T479S probably benign Het
Tex10 T C 4: 48,452,946 (GRCm39) D671G probably benign Het
Tgtp2 T C 11: 48,949,811 (GRCm39) T254A probably damaging Het
Tmtc2 T C 10: 105,249,391 (GRCm39) Y114C probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ubac1 A T 2: 25,888,989 (GRCm39) I402N probably damaging Het
Zmat1 A T X: 133,873,694 (GRCm39) S566T probably damaging Homo
Other mutations in Gm8257
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Gm8257 APN 14 44,892,800 (GRCm39) missense probably damaging 1.00
IGL02616:Gm8257 APN 14 44,892,683 (GRCm39) missense probably damaging 1.00
R5678:Gm8257 UTSW 14 44,894,706 (GRCm39) missense probably damaging 1.00
R7264:Gm8257 UTSW 14 44,893,817 (GRCm39) missense probably damaging 1.00
R7374:Gm8257 UTSW 14 44,887,740 (GRCm39) missense probably benign 0.00
R7868:Gm8257 UTSW 14 44,894,754 (GRCm39) missense probably damaging 1.00
R8182:Gm8257 UTSW 14 44,887,623 (GRCm39) missense probably benign 0.38
R8944:Gm8257 UTSW 14 44,893,849 (GRCm39) missense probably damaging 1.00
R9036:Gm8257 UTSW 14 44,893,877 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AGGTCCTTCCAGCTGTTGAC -3'
(R):5'- ATCTATCTTCAGTGTCTGCTGG -3'

Sequencing Primer
(F):5'- GGTCCTTCCAGCTGTTGACAAAAC -3'
(R):5'- TCTGCTGGGAGAACATCATC -3'
Posted On 2015-09-25