Incidental Mutation 'R9499:Gm8159'
ID 717444
Institutional Source Beutler Lab
Gene Symbol Gm8159
Ensembl Gene ENSMUSG00000094258
Gene Name predicted gene 8159
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9499 (G1)
Quality Score 185.009
Status Not validated
Chromosome 14
Chromosomal Location 17828971-17837421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15850264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 161 (I161K)
Ref Sequence ENSEMBL: ENSMUSP00000127748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163738] [ENSMUST00000170546] [ENSMUST00000179231]
AlphaFold E9Q0R1
Predicted Effect probably damaging
Transcript: ENSMUST00000163738
AA Change: I161K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126261
Gene: ENSMUSG00000094258
AA Change: I161K

DomainStartEndE-ValueType
Pfam:Takusan 46 129 8.7e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170546
AA Change: I161K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127748
Gene: ENSMUSG00000094258
AA Change: I161K

DomainStartEndE-ValueType
Pfam:Takusan 48 128 1.6e-22 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179231
AA Change: I161K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137635
Gene: ENSMUSG00000094258
AA Change: I161K

DomainStartEndE-ValueType
Pfam:Takusan 46 129 4.6e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 T C 14: 8,028,329 (GRCm38) I20T possibly damaging Het
Apoa5 G C 9: 46,181,944 (GRCm39) R340P probably damaging Het
Arhgap21 A T 2: 20,886,397 (GRCm39) V270E probably damaging Het
Arhgef17 T C 7: 100,526,102 (GRCm39) M851V possibly damaging Het
Arhgef5 A T 6: 43,260,940 (GRCm39) H1455L Het
Birc6 T A 17: 74,916,064 (GRCm39) L1660Q probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cep120 C A 18: 53,819,033 (GRCm39) R886L possibly damaging Het
Cep290 T C 10: 100,372,729 (GRCm39) S1176P probably damaging Het
Cyp2j7 C T 4: 96,115,840 (GRCm39) R202H probably damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Depdc7 C T 2: 104,553,220 (GRCm39) probably null Het
Dnaaf11 T C 15: 66,361,483 (GRCm39) E6G probably damaging Het
Erbb4 G A 1: 68,779,642 (GRCm39) Q45* probably null Het
Ercc6 C T 14: 32,284,525 (GRCm39) R763C probably damaging Het
Gm14401 C T 2: 176,778,337 (GRCm39) A141V probably benign Het
Gm14496 A G 2: 181,638,179 (GRCm39) K418E probably benign Het
Hnrnpk A G 13: 58,544,058 (GRCm39) S116P probably benign Het
Hs3st6 T C 17: 24,977,228 (GRCm39) L236P probably damaging Het
Il15 T A 8: 83,061,177 (GRCm39) H100L probably benign Het
Inpp5f A T 7: 128,295,437 (GRCm39) I744F possibly damaging Het
Kif14 C A 1: 136,455,219 (GRCm39) S1630R probably damaging Het
Madd T C 2: 91,000,434 (GRCm39) T544A probably damaging Het
Mbl2 G A 19: 30,216,664 (GRCm39) A159T probably damaging Het
Mfsd9 T C 1: 40,813,152 (GRCm39) T388A probably damaging Het
Mtor C T 4: 148,599,397 (GRCm39) R1482C probably damaging Het
Myh11 T A 16: 14,064,673 (GRCm39) E215V Het
Nmd3 T C 3: 69,647,329 (GRCm39) V277A possibly damaging Het
Nr2e1 A T 10: 42,447,487 (GRCm39) M175K probably benign Het
Nrxn1 T C 17: 90,937,450 (GRCm39) K669R probably damaging Het
Patl1 T A 19: 11,897,728 (GRCm39) M105K possibly damaging Het
Pck2 T A 14: 55,780,081 (GRCm39) I110N probably damaging Het
Pdzrn3 T C 6: 101,127,855 (GRCm39) D937G probably damaging Het
Phb1 G A 11: 95,562,257 (GRCm39) V45I probably benign Het
Pi4ka T C 16: 17,125,574 (GRCm39) E1187G Het
Piezo2 T C 18: 63,166,033 (GRCm39) E2066G possibly damaging Het
Plin1 T C 7: 79,372,544 (GRCm39) N343D probably benign Het
Polr1b C T 2: 128,957,684 (GRCm39) R580* probably null Het
Rexo5 A G 7: 119,404,480 (GRCm39) E192G probably damaging Het
Rpain T C 11: 70,865,816 (GRCm39) S194P probably damaging Het
Slco6c1 T C 1: 97,055,827 (GRCm39) S25G probably benign Het
Slitrk5 C T 14: 111,916,496 (GRCm39) T40I probably benign Het
Slu7 G A 11: 43,329,095 (GRCm39) V106I probably benign Het
Ssb T A 2: 69,696,982 (GRCm39) D107E probably benign Het
Stc2 A G 11: 31,310,332 (GRCm39) S235P probably benign Het
Sult2a8 A C 7: 14,157,487 (GRCm39) V116G probably damaging Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tgm1 T C 14: 55,950,933 (GRCm39) probably benign Het
Tle5 T C 10: 81,399,988 (GRCm39) V62A probably damaging Het
Trf C T 9: 103,099,283 (GRCm39) V339I probably benign Het
Ucp1 T C 8: 84,024,509 (GRCm39) L278P probably damaging Het
Vmn1r24 T A 6: 57,933,150 (GRCm39) I123F possibly damaging Het
Vmn2r9 T A 5: 108,995,584 (GRCm39) N355Y probably damaging Het
Yipf4 T C 17: 74,806,024 (GRCm39) F221S probably damaging Het
Zfp1005 C A 2: 150,109,856 (GRCm39) T182K unknown Het
Zfp595 A T 13: 67,465,067 (GRCm39) S402T probably damaging Het
Zfp710 A G 7: 79,731,621 (GRCm39) E266G probably damaging Het
Zfp827 T G 8: 79,787,403 (GRCm39) W190G probably damaging Het
Zscan4c T C 7: 10,740,853 (GRCm39) V124A probably benign Het
Other mutations in Gm8159
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0932:Gm8159 UTSW 14 4,635,226 (GRCm38) missense possibly damaging 0.78
R6422:Gm8159 UTSW 14 15,850,210 (GRCm39) missense probably damaging 0.97
R9552:Gm8159 UTSW 14 15,850,264 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAACATGGGCGGTATCTTG -3'
(R):5'- TAGACATGAGGGCAATCTGC -3'

Sequencing Primer
(F):5'- ATGTATACTGTAGACTCTTCTGGGAC -3'
(R):5'- GCAATCTGCCTCTGATACACATC -3'
Posted On 2022-07-18