Incidental Mutation 'R6422:Gm8159'
ID 518221
Institutional Source Beutler Lab
Gene Symbol Gm8159
Ensembl Gene ENSMUSG00000094258
Gene Name predicted gene 8159
Synonyms
MMRRC Submission 044563-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6422 (G1)
Quality Score 85.0076
Status Not validated
Chromosome 14
Chromosomal Location 17828971-17837421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15850210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 143 (I143T)
Ref Sequence ENSEMBL: ENSMUSP00000127748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163738] [ENSMUST00000170546] [ENSMUST00000179231]
AlphaFold E9Q0R1
Predicted Effect possibly damaging
Transcript: ENSMUST00000163738
AA Change: I143T

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126261
Gene: ENSMUSG00000094258
AA Change: I143T

DomainStartEndE-ValueType
Pfam:Takusan 46 129 8.7e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170546
AA Change: I143T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127748
Gene: ENSMUSG00000094258
AA Change: I143T

DomainStartEndE-ValueType
Pfam:Takusan 48 128 1.6e-22 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000179231
AA Change: I143T

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137635
Gene: ENSMUSG00000094258
AA Change: I143T

DomainStartEndE-ValueType
Pfam:Takusan 46 129 4.6e-32 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.8%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430005L14Rik T A 4: 154,045,381 (GRCm39) F137I probably damaging Het
Adam11 A G 11: 102,665,109 (GRCm39) K417R possibly damaging Het
Btbd9 G A 17: 30,749,230 (GRCm39) A28V probably benign Het
Cabin1 A G 10: 75,492,626 (GRCm39) Y1890H probably damaging Het
Castor2 T A 5: 134,164,549 (GRCm39) M170K probably benign Het
Cep162 G T 9: 87,114,069 (GRCm39) N334K possibly damaging Het
Cep85l A T 10: 53,167,876 (GRCm39) M634K possibly damaging Het
Col20a1 C A 2: 180,656,612 (GRCm39) T1161N possibly damaging Het
Dip2b T A 15: 100,096,892 (GRCm39) D1155E probably damaging Het
Dlst T A 12: 85,177,659 (GRCm39) probably null Het
Dsc1 A C 18: 20,228,090 (GRCm39) L422R probably damaging Het
Gcn1 T C 5: 115,747,603 (GRCm39) W1699R probably damaging Het
Gm14443 G A 2: 175,012,174 (GRCm39) Q91* probably null Het
Il4i1 G T 7: 44,489,560 (GRCm39) A442S probably damaging Het
Kif26a T G 12: 112,135,309 (GRCm39) L337R possibly damaging Het
Lat2 T C 5: 134,632,015 (GRCm39) D144G probably benign Het
Ndst1 G T 18: 60,836,025 (GRCm39) H419Q probably benign Het
Notch4 T C 17: 34,803,533 (GRCm39) I1484T probably benign Het
Or51v14 T G 7: 103,261,221 (GRCm39) E113A probably damaging Het
Paxbp1 A T 16: 90,820,332 (GRCm39) M697K probably benign Het
Plxnb1 A G 9: 108,937,992 (GRCm39) Y1246C probably damaging Het
Prr5 C T 15: 84,578,005 (GRCm39) R96C probably damaging Het
Ptpn7 G T 1: 135,062,240 (GRCm39) C62F probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sall2 A C 14: 52,550,181 (GRCm39) *1003G probably null Het
Slc5a4b C A 10: 75,939,696 (GRCm39) V147F probably damaging Het
Snapc4 A G 2: 26,258,315 (GRCm39) W702R probably benign Het
Tbc1d32 A T 10: 55,904,157 (GRCm39) C1203* probably null Het
Tmprss11d T A 5: 86,457,284 (GRCm39) Y125F probably damaging Het
Tpp1 G A 7: 105,396,163 (GRCm39) T512I probably benign Het
Tyw5 G A 1: 57,440,570 (GRCm39) A64V probably damaging Het
Other mutations in Gm8159
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0932:Gm8159 UTSW 14 4,635,226 (GRCm38) missense possibly damaging 0.78
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'- GGAACATGGGCGGTATCTTG -3'
(R):5'- GGTTAGACATGAGGGCAATCTGC -3'

Sequencing Primer
(F):5'- AACATGGGCGGTATCTTGATTTGAC -3'
(R):5'- GCAATCTGCCTCTGATACACATC -3'
Posted On 2018-05-24