Incidental Mutation 'R1634:Tmem176b'
ID 172974
Institutional Source Beutler Lab
Gene Symbol Tmem176b
Ensembl Gene ENSMUSG00000029810
Gene Name transmembrane protein 176B
Synonyms Lr8, Clast1, 1810009M01Rik
MMRRC Submission 039671-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R1634 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48810745-48818363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48811500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 216 (S216P)
Ref Sequence ENSEMBL: ENSMUSP00000144864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101429] [ENSMUST00000164733] [ENSMUST00000166247] [ENSMUST00000203229] [ENSMUST00000203265] [ENSMUST00000203355] [ENSMUST00000204073] [ENSMUST00000204783] [ENSMUST00000205159] [ENSMUST00000203501] [ENSMUST00000205147]
AlphaFold Q9R1Q6
Predicted Effect probably damaging
Transcript: ENSMUST00000101429
AA Change: S216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810
AA Change: S216P

DomainStartEndE-ValueType
Pfam:CD20 60 224 5.2e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164733
AA Change: S216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810
AA Change: S216P

DomainStartEndE-ValueType
Pfam:CD20 60 224 5.2e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166247
AA Change: S216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810
AA Change: S216P

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 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 damaging
Transcript: ENSMUST00000203355
AA Change: S216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810
AA Change: S216P

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204073
AA Change: S216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810
AA Change: S216P

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204783
AA Change: S50P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144810
Gene: ENSMUSG00000029810
AA Change: S50P

DomainStartEndE-ValueType
Pfam:CD20 1 58 1.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203618
Predicted Effect probably benign
Transcript: ENSMUST00000205159
SMART Domains Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 196 1.2e-35 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 benign
Transcript: ENSMUST00000205147
SMART Domains Protein: ENSMUSP00000145235
Gene: ENSMUSG00000029810

DomainStartEndE-ValueType
Pfam:CD20 60 195 2.3e-35 PFAM
Meta Mutation Damage Score 0.6916 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.4%
Validation Efficiency 97% (67/69)
MGI Phenotype PHENOTYPE: Most mice homozygous for a knock-out allele exhibit severe sporadic ataxia and a small cerebellum associated with abnormal cerebellar lobulation, loss of the internal granule cell layer, poor formation of the external germinal layer, and disorganized Purkinje cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,295,180 (GRCm39) F222I probably damaging Het
Adam34 A T 8: 44,105,127 (GRCm39) C173S possibly damaging Het
Ahi1 T C 10: 20,841,592 (GRCm39) V293A probably damaging Het
AI182371 A T 2: 34,976,497 (GRCm39) Y223N probably damaging Het
Asmt C A X: 169,109,564 (GRCm39) F181L probably damaging Het
Axin1 T A 17: 26,406,965 (GRCm39) H519Q probably damaging Het
Cdc5l A T 17: 45,715,632 (GRCm39) V660E probably damaging Het
Cep152 C T 2: 125,425,809 (GRCm39) R852H probably benign Het
Cpne4 T C 9: 104,866,778 (GRCm39) V230A possibly damaging Het
Cttnbp2 A T 6: 18,408,656 (GRCm39) N988K probably benign Het
D430041D05Rik A G 2: 104,051,556 (GRCm39) I767T probably damaging Het
Dgki A G 6: 36,892,425 (GRCm39) M851T probably benign Het
Dnah8 T C 17: 30,932,072 (GRCm39) probably null Het
Dscaml1 A G 9: 45,584,047 (GRCm39) E504G probably damaging Het
Dzank1 G A 2: 144,323,589 (GRCm39) A618V probably benign Het
Entrep3 A C 3: 89,095,401 (GRCm39) Y511S probably damaging Het
Fat2 T A 11: 55,158,510 (GRCm39) S3403C probably damaging Het
Fat2 C T 11: 55,175,545 (GRCm39) V1723I probably benign Het
Flt1 A T 5: 147,613,240 (GRCm39) F334I probably damaging Het
Galnt12 G T 4: 47,108,585 (GRCm39) probably null Het
Gzmc T C 14: 56,469,737 (GRCm39) I188V possibly damaging Het
Herc1 T C 9: 66,380,820 (GRCm39) S3566P possibly damaging Het
Hoxb4 C A 11: 96,211,099 (GRCm39) probably benign Het
Idh3b C T 2: 130,123,665 (GRCm39) V141I probably benign Het
Kif24 A G 4: 41,393,529 (GRCm39) S1249P probably benign Het
Leo1 T C 9: 75,373,542 (GRCm39) Y656H possibly damaging Het
Map3k20 G A 2: 72,240,521 (GRCm39) W339* probably null Het
Map3k5 T C 10: 20,012,657 (GRCm39) V1259A possibly damaging Het
Masp2 A G 4: 148,698,812 (GRCm39) D631G probably damaging Het
Mink1 T C 11: 70,499,706 (GRCm39) S713P probably benign Het
Mpp7 A T 18: 7,350,984 (GRCm39) V571E possibly damaging Het
Nell1 A G 7: 50,498,306 (GRCm39) D574G possibly damaging Het
Obscn T C 11: 58,967,722 (GRCm39) Y392C probably damaging Het
Odad2 A G 18: 7,286,688 (GRCm39) L181P probably damaging Het
Olfml2a A T 2: 38,850,231 (GRCm39) Y649F probably benign Het
Or1f19 A G 16: 3,411,073 (GRCm39) D271G probably benign Het
Or4k45 T C 2: 111,395,691 (GRCm39) M33V probably benign Het
Prkcg A G 7: 3,371,986 (GRCm39) D484G probably damaging Het
Rab27a T C 9: 72,982,851 (GRCm39) probably null Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rgl1 C T 1: 152,400,523 (GRCm39) R624H probably damaging Het
Ric8b G A 10: 84,806,612 (GRCm39) G159D probably damaging Het
Sbno2 C A 10: 79,896,468 (GRCm39) A880S possibly damaging Het
Scn9a A G 2: 66,318,361 (GRCm39) S1477P probably damaging Het
Sec22a T C 16: 35,139,243 (GRCm39) probably benign Het
Snx14 T C 9: 88,267,792 (GRCm39) I714M probably benign Het
Snx14 T C 9: 88,289,543 (GRCm39) probably benign Het
Sphk2 T A 7: 45,360,964 (GRCm39) T347S probably benign Het
Spns1 C T 7: 125,970,343 (GRCm39) probably benign Het
Susd2 A G 10: 75,473,389 (GRCm39) V675A probably benign Het
Sytl2 A T 7: 90,044,390 (GRCm39) D566V probably damaging Het
Tcf25 T A 8: 124,123,830 (GRCm39) I464N possibly damaging Het
Tex261 A T 6: 83,752,004 (GRCm39) I49N possibly damaging Het
Tjp1 A G 7: 64,952,700 (GRCm39) F1545L possibly damaging Het
Topaz1 C T 9: 122,609,740 (GRCm39) probably benign Het
Tra2a C T 6: 49,227,891 (GRCm39) probably benign Het
Ttn A G 2: 76,553,126 (GRCm39) F22794S possibly damaging Het
Uox G A 3: 146,318,138 (GRCm39) W93* probably null Het
Zan A T 5: 137,411,052 (GRCm39) probably benign Het
Zfp106 G A 2: 120,364,158 (GRCm39) R750* probably null Het
Zfp638 A T 6: 83,956,894 (GRCm39) probably null Het
Other mutations in Tmem176b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Tmem176b APN 6 48,811,004 (GRCm39) missense possibly damaging 0.79
IGL02374:Tmem176b APN 6 48,811,560 (GRCm39) missense possibly damaging 0.60
IGL03027:Tmem176b APN 6 48,812,573 (GRCm39) missense probably damaging 1.00
IGL03134:Tmem176b UTSW 6 48,815,287 (GRCm39) missense probably benign 0.00
R1920:Tmem176b UTSW 6 48,815,138 (GRCm39) missense possibly damaging 0.70
R2008:Tmem176b UTSW 6 48,812,383 (GRCm39) missense probably damaging 0.97
R2056:Tmem176b UTSW 6 48,813,267 (GRCm39) missense probably damaging 0.97
R2057:Tmem176b UTSW 6 48,813,267 (GRCm39) missense probably damaging 0.97
R2059:Tmem176b UTSW 6 48,813,267 (GRCm39) missense probably damaging 0.97
R5099:Tmem176b UTSW 6 48,811,463 (GRCm39) missense probably benign
R5484:Tmem176b UTSW 6 48,811,467 (GRCm39) missense probably benign 0.01
R5623:Tmem176b UTSW 6 48,811,004 (GRCm39) missense probably benign 0.14
R6102:Tmem176b UTSW 6 48,812,868 (GRCm39) missense probably benign 0.30
R6413:Tmem176b UTSW 6 48,815,266 (GRCm39) missense possibly damaging 0.94
R7723:Tmem176b UTSW 6 48,812,869 (GRCm39) missense probably benign 0.06
R8531:Tmem176b UTSW 6 48,811,538 (GRCm39) missense possibly damaging 0.58
R8976:Tmem176b UTSW 6 48,812,600 (GRCm39) missense probably damaging 1.00
R8987:Tmem176b UTSW 6 48,812,530 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCGCACTTGAAAGCAGCAGAAG -3'
(R):5'- CACCTTGTCACTAGAGGATGCCAC -3'

Sequencing Primer
(F):5'- GATGGGTTCACACTCCACAG -3'
(R):5'- AGAGGATGCCACCTGCTTTC -3'
Posted On 2014-04-24