Incidental Mutation 'R6846:Tmem176a'
ID 534757
Institutional Source Beutler Lab
Gene Symbol Tmem176a
Ensembl Gene ENSMUSG00000023367
Gene Name transmembrane protein 176A
Synonyms 0610011I04Rik
MMRRC Submission 044952-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6846 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48818417-48822298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 48820759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 116 (R116L)
Ref Sequence ENSEMBL: ENSMUSP00000145101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101426] [ENSMUST00000101429] [ENSMUST00000164733] [ENSMUST00000166247] [ENSMUST00000168406] [ENSMUST00000203229] [ENSMUST00000203265] [ENSMUST00000203355] [ENSMUST00000203501] [ENSMUST00000203639] [ENSMUST00000204073] [ENSMUST00000204309] [ENSMUST00000204400] [ENSMUST00000204482] [ENSMUST00000204783] [ENSMUST00000205147] [ENSMUST00000205159]
AlphaFold Q9DCS1
Predicted Effect probably damaging
Transcript: ENSMUST00000101426
AA Change: R116L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098969
Gene: ENSMUSG00000023367
AA Change: R116L

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
Pfam:CD20 63 223 8.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101429
SMART Domains Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 224 5.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164733
SMART Domains Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 224 5.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166247
SMART Domains Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168406
AA Change: R116L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131775
Gene: ENSMUSG00000023367
AA Change: R116L

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
Pfam:CD20 63 223 2.4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203229
SMART Domains Protein: ENSMUSP00000144865
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 195 2.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203265
SMART Domains Protein: ENSMUSP00000144869
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 194 2.9e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203355
SMART Domains Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203501
SMART Domains Protein: ENSMUSP00000144742
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 170 3.6e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203639
AA Change: R116L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145250
Gene: ENSMUSG00000023367
AA Change: R116L

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
Pfam:CD20 63 223 8.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204073
SMART Domains Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204309
Predicted Effect probably benign
Transcript: ENSMUST00000204400
Predicted Effect probably damaging
Transcript: ENSMUST00000204482
AA Change: R116L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145101
Gene: ENSMUSG00000023367
AA Change: R116L

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
Pfam:CD20 63 223 8.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204783
SMART Domains Protein: ENSMUSP00000144810
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 1 58 1.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205147
SMART Domains Protein: ENSMUSP00000145235
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 195 2.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205159
SMART Domains Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 196 1.2e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,989,221 (GRCm39) N3502D possibly damaging Het
Ambn T A 5: 88,609,574 (GRCm39) I94K possibly damaging Het
Ank3 A G 10: 69,660,179 (GRCm39) H227R probably damaging Het
Arhgap42 G T 9: 9,006,446 (GRCm39) P650Q probably damaging Het
Bahcc1 A G 11: 120,162,422 (GRCm39) E240G possibly damaging Het
Cd19 T C 7: 126,010,025 (GRCm39) E408G probably benign Het
Cdh11 G A 8: 103,391,276 (GRCm39) T320I probably damaging Het
Cep131 G A 11: 119,956,517 (GRCm39) R944W probably damaging Het
Dgkd T G 1: 87,853,413 (GRCm39) probably null Het
Dnaaf1 T A 8: 120,309,401 (GRCm39) L163Q probably damaging Het
Ecpas A G 4: 58,814,081 (GRCm39) C1342R possibly damaging Het
Etl4 T A 2: 20,748,919 (GRCm39) L550Q possibly damaging Het
Evpl T C 11: 116,114,633 (GRCm39) E1019G probably damaging Het
Fam120b T C 17: 15,635,091 (GRCm39) L601P probably damaging Het
Fhit C A 14: 9,763,762 (GRCm38) R172L possibly damaging Het
Hoxa6 T C 6: 52,183,523 (GRCm39) H174R possibly damaging Het
Htra4 A G 8: 25,520,561 (GRCm39) F367L probably damaging Het
Ighg2c A G 12: 113,251,930 (GRCm39) I102T unknown Het
Iws1 T C 18: 32,219,326 (GRCm39) probably benign Het
Lats2 A G 14: 57,933,591 (GRCm39) V842A probably damaging Het
Limd2 C T 11: 106,050,213 (GRCm39) M1I probably null Het
Lrp2 T A 2: 69,348,787 (GRCm39) Q728L probably damaging Het
Mcc T A 18: 44,606,707 (GRCm39) T400S possibly damaging Het
Mthfd1l A G 10: 3,997,898 (GRCm39) D623G probably damaging Het
Myocos T C 1: 162,484,665 (GRCm39) probably benign Het
Nat1 G T 8: 67,943,995 (GRCm39) A124S probably benign Het
Nfya A T 17: 48,702,715 (GRCm39) M62K probably benign Het
Nlgn1 A G 3: 25,490,506 (GRCm39) V378A probably damaging Het
Or52r1c T A 7: 102,735,265 (GRCm39) I175N possibly damaging Het
Or5ak22 A T 2: 85,230,861 (GRCm39) N5K probably damaging Het
Pitpnm2 T C 5: 124,269,234 (GRCm39) S463G probably benign Het
Serpinb3b T C 1: 107,082,403 (GRCm39) E287G probably benign Het
Slc16a13 T C 11: 70,108,661 (GRCm39) T390A probably benign Het
Slc7a14 A G 3: 31,278,372 (GRCm39) M411T probably damaging Het
Strn A G 17: 79,043,886 (GRCm39) F11L probably damaging Het
Swap70 T A 7: 109,854,956 (GRCm39) F85L possibly damaging Het
Tanc2 T A 11: 105,689,479 (GRCm39) W214R probably benign Het
Tenm3 T C 8: 48,729,773 (GRCm39) K1411R probably benign Het
Trim71 G T 9: 114,354,115 (GRCm39) H296Q probably damaging Het
Vmn1r67 A T 7: 10,180,840 (GRCm39) I35L probably benign Het
Vnn3 A G 10: 23,727,620 (GRCm39) T47A probably benign Het
Zscan10 A T 17: 23,824,581 (GRCm39) Q12H probably damaging Het
Other mutations in Tmem176a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01988:Tmem176a APN 6 48,819,554 (GRCm39) missense possibly damaging 0.93
R5329:Tmem176a UTSW 6 48,819,151 (GRCm39) missense probably benign 0.00
R5391:Tmem176a UTSW 6 48,821,630 (GRCm39) missense probably damaging 1.00
R6516:Tmem176a UTSW 6 48,821,002 (GRCm39) splice site probably null
R7138:Tmem176a UTSW 6 48,820,953 (GRCm39) missense probably damaging 1.00
R7524:Tmem176a UTSW 6 48,821,039 (GRCm39) missense probably benign 0.00
R7766:Tmem176a UTSW 6 48,821,116 (GRCm39) splice site probably null
R9673:Tmem176a UTSW 6 48,820,952 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- CTCACAACTGTGCTCCAAGCTC -3'
(R):5'- TTGCCAGCACAAGAAGGGTC -3'

Sequencing Primer
(F):5'- AGCTCATTGTCCCACACAGTTAC -3'
(R):5'- TCCTCATCAGGGCCTAGGTAGAG -3'
Posted On 2018-09-12