Incidental Mutation 'R3903:Gm8180'
ID 309276
Institutional Source Beutler Lab
Gene Symbol Gm8180
Ensembl Gene ENSMUSG00000091584
Gene Name predicted gene 8180
Synonyms
MMRRC Submission 040907-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R3903 (G1)
Quality Score 201
Status Validated
Chromosome 14
Chromosomal Location 44016945-44022202 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44021092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 39 (R39W)
Ref Sequence ENSEMBL: ENSMUSP00000131109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163599]
AlphaFold E9PXN0
Predicted Effect probably null
Transcript: ENSMUST00000163599
AA Change: R39W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131109
Gene: ENSMUSG00000091584
AA Change: R39W

DomainStartEndE-ValueType
Pfam:Takusan 1 69 2.1e-24 PFAM
coiled coil region 97 119 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227949
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amd1 C T 10: 40,166,453 (GRCm39) R210H probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Ap3m1 T C 14: 21,086,732 (GRCm39) Y185C probably null Het
Calcrl T A 2: 84,198,986 (GRCm39) probably benign Het
Ccdc178 C T 18: 22,156,152 (GRCm39) V573I possibly damaging Het
Cdh6 T C 15: 13,042,661 (GRCm39) K499R probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a1 C T 10: 76,547,175 (GRCm39) R730H unknown Het
Cyp4f40 C A 17: 32,878,598 (GRCm39) R47S possibly damaging Het
Eif4a2 AG A 16: 22,929,390 (GRCm39) probably null Het
Fsip2l T C X: 47,930,421 (GRCm39) N649S possibly damaging Het
Golm1 T C 13: 59,786,154 (GRCm39) Q346R probably damaging Het
Grap T G 11: 61,551,151 (GRCm39) probably null Het
Hormad2 A G 11: 4,377,237 (GRCm39) probably benign Het
Hyal1 T C 9: 107,456,171 (GRCm39) probably null Het
Kif12 A G 4: 63,086,213 (GRCm39) V378A possibly damaging Het
Lrrk2 G A 15: 91,631,904 (GRCm39) S1276N probably damaging Het
Lrrk2 A T 15: 91,631,903 (GRCm39) S1276C probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or4f53 A T 2: 111,088,114 (GRCm39) Y218F probably damaging Het
Or7c70 T G 10: 78,683,132 (GRCm39) I206L probably benign Het
Or8c20 C T 9: 38,260,954 (GRCm39) Q186* probably null Het
Pabpc6 T C 17: 9,888,083 (GRCm39) E156G probably benign Het
Rorb A G 19: 18,939,463 (GRCm39) Y155H probably damaging Het
Samd9l T A 6: 3,376,830 (GRCm39) K144* probably null Het
Scn1a A G 2: 66,148,476 (GRCm39) I3T probably benign Het
Serpinb9 T C 13: 33,194,793 (GRCm39) M183T possibly damaging Het
Wnk1 A G 6: 119,926,012 (GRCm39) S1151P probably damaging Het
Xirp2 C T 2: 67,338,380 (GRCm39) T207I probably benign Het
Zfp39 T C 11: 58,781,001 (GRCm39) Y587C probably benign Het
Other mutations in Gm8180
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1860:Gm8180 UTSW 14 44,021,196 (GRCm39) missense probably benign
R1861:Gm8180 UTSW 14 44,021,196 (GRCm39) missense probably benign
R1863:Gm8180 UTSW 14 44,021,139 (GRCm39) missense probably benign 0.00
R4872:Gm8180 UTSW 14 44,019,802 (GRCm39) missense probably benign 0.02
R7472:Gm8180 UTSW 14 44,021,094 (GRCm39) missense possibly damaging 0.61
R7814:Gm8180 UTSW 14 44,021,103 (GRCm39) missense possibly damaging 0.93
R9054:Gm8180 UTSW 14 44,019,806 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCAAAAGTGCCTGTGACCC -3'
(R):5'- TTCTGTGTGGGACAAAGCCC -3'

Sequencing Primer
(F):5'- AAAGTGCCTGTGACCCCATCTC -3'
(R):5'- TGGGACAAAGCCCGGTTTC -3'
Posted On 2015-04-17