Incidental Mutation 'R1920:Tmem176b'
ID 212935
Institutional Source Beutler Lab
Gene Symbol Tmem176b
Ensembl Gene ENSMUSG00000029810
Gene Name transmembrane protein 176B
Synonyms Lr8, Clast1, 1810009M01Rik
MMRRC Submission 039938-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R1920 (G1)
Quality Score 221
Status Validated
Chromosome 6
Chromosomal Location 48810745-48818363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 48815138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 52 (A52T)
Ref Sequence ENSEMBL: ENSMUSP00000144742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101426] [ENSMUST00000101429] [ENSMUST00000164733] [ENSMUST00000166247] [ENSMUST00000168406] [ENSMUST00000203229] [ENSMUST00000203265] [ENSMUST00000203501] [ENSMUST00000205147] [ENSMUST00000203355] [ENSMUST00000204073] [ENSMUST00000204309] [ENSMUST00000203639] [ENSMUST00000204400] [ENSMUST00000204783] [ENSMUST00000204482] [ENSMUST00000205159]
AlphaFold Q9R1Q6
Predicted Effect probably benign
Transcript: ENSMUST00000101426
SMART Domains Protein: ENSMUSP00000098969
Gene: ENSMUSG00000023367

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
Pfam:CD20 63 223 8.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101429
AA Change: A52T

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810
AA Change: A52T

DomainStartEndE-ValueType
Pfam:CD20 60 224 5.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164733
AA Change: A52T

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810
AA Change: A52T

DomainStartEndE-ValueType
Pfam:CD20 60 224 5.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166247
AA Change: A52T

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810
AA Change: A52T

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168406
SMART Domains Protein: ENSMUSP00000131775
Gene: ENSMUSG00000023367

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
Pfam:CD20 63 223 2.4e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203229
AA Change: A52T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144865
Gene: ENSMUSG00000029810
AA Change: A52T

DomainStartEndE-ValueType
Pfam:CD20 60 195 2.3e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203265
AA Change: A52T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144869
Gene: ENSMUSG00000029810
AA Change: A52T

DomainStartEndE-ValueType
Pfam:CD20 60 194 2.9e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203501
AA Change: A52T

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144742
Gene: ENSMUSG00000029810
AA Change: A52T

DomainStartEndE-ValueType
Pfam:CD20 60 170 3.6e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205147
AA Change: A52T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145235
Gene: ENSMUSG00000029810
AA Change: A52T

DomainStartEndE-ValueType
Pfam:CD20 60 195 2.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203355
AA Change: A52T

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810
AA Change: A52T

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204073
AA Change: A52T

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810
AA Change: A52T

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203461
Predicted Effect probably benign
Transcript: ENSMUST00000203639
SMART Domains Protein: ENSMUSP00000145250
Gene: ENSMUSG00000023367

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
Pfam:CD20 63 223 8.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203618
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: ENSMUST00000204482
SMART Domains Protein: ENSMUSP00000145101
Gene: ENSMUSG00000023367

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
Pfam:CD20 63 223 8.7e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205159
AA Change: A52T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810
AA Change: A52T

DomainStartEndE-ValueType
Pfam:CD20 60 196 1.2e-35 PFAM
Meta Mutation Damage Score 0.2976 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
Validation Efficiency 98% (101/103)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,828 (GRCm39) V77A probably benign Het
Actl7a G A 4: 56,744,135 (GRCm39) V221M probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Arhgef10 C T 8: 15,006,987 (GRCm39) probably benign Het
Asgr2 T C 11: 69,989,123 (GRCm39) L86P possibly damaging Het
Atp12a A G 14: 56,624,308 (GRCm39) R919G probably benign Het
Atrn A G 2: 130,836,971 (GRCm39) Y1145C probably damaging Het
B3gnt5 T G 16: 19,588,294 (GRCm39) L171R probably benign Het
Bbof1 T A 12: 84,457,859 (GRCm39) N41K possibly damaging Het
Bdp1 A T 13: 100,235,097 (GRCm39) W166R probably benign Het
Bean1 A T 8: 104,937,742 (GRCm39) H107L possibly damaging Het
Brd4 T C 17: 32,417,060 (GRCm39) probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cep78 G A 19: 15,951,715 (GRCm39) probably benign Het
Cfap70 C T 14: 20,445,020 (GRCm39) A1087T probably damaging Het
Cideb A G 14: 55,992,700 (GRCm39) V72A probably benign Het
Cpz T C 5: 35,675,012 (GRCm39) E79G probably damaging Het
Crybg1 A G 10: 43,873,544 (GRCm39) L1188P probably damaging Het
Cuzd1 G A 7: 130,911,425 (GRCm39) P518L probably benign Het
Cyp2j5 A T 4: 96,551,491 (GRCm39) N77K probably damaging Het
Cyp4f39 T G 17: 32,702,265 (GRCm39) F254C probably benign Het
Dkk1 C A 19: 30,524,731 (GRCm39) V225L probably damaging Het
Dlg5 T C 14: 24,226,639 (GRCm39) Y421C probably damaging Het
Dll3 T C 7: 27,998,348 (GRCm39) T206A probably benign Het
Dnhd1 T C 7: 105,362,614 (GRCm39) C3766R probably benign Het
Dock9 G T 14: 121,820,792 (GRCm39) S1534Y probably damaging Het
Dst T C 1: 34,200,110 (GRCm39) V96A probably damaging Het
F2r A G 13: 95,740,698 (GRCm39) F279S probably damaging Het
Farp1 C A 14: 121,492,908 (GRCm39) N503K probably benign Het
Fbxw2 G A 2: 34,712,776 (GRCm39) T95I probably damaging Het
Fis1 A G 5: 136,994,461 (GRCm39) T50A probably benign Het
Frzb T G 2: 80,276,772 (GRCm39) E138A probably damaging Het
Fsip2 A T 2: 82,817,164 (GRCm39) D4299V probably benign Het
Fyco1 C T 9: 123,659,478 (GRCm39) D233N probably damaging Het
Gmpr A G 13: 45,667,997 (GRCm39) probably benign Het
Hc C T 2: 34,919,407 (GRCm39) probably benign Het
Hnrnpa1 T C 15: 103,150,699 (GRCm39) M186T possibly damaging Het
Kl A G 5: 150,906,132 (GRCm39) K501E probably benign Het
Klhl42 A G 6: 147,009,427 (GRCm39) N422S probably damaging Het
Kmt2d C G 15: 98,753,471 (GRCm39) K127N probably damaging Het
Kmt2d T A 15: 98,753,472 (GRCm39) K127M probably damaging Het
Krt39 T A 11: 99,405,461 (GRCm39) T480S probably benign Het
Lims2 T A 18: 32,088,395 (GRCm39) C198* probably null Het
Mctp1 A G 13: 76,532,729 (GRCm39) N26D possibly damaging Het
Mdm4 A G 1: 132,931,538 (GRCm39) S168P probably benign Het
Myo3a A G 2: 22,455,008 (GRCm39) Y71C probably benign Het
Nlrp9c T A 7: 26,084,319 (GRCm39) D420V probably damaging Het
Ntf3 A T 6: 126,079,485 (GRCm39) I7N possibly damaging Het
Or10ag52 G A 2: 87,043,721 (GRCm39) G162S probably benign Het
Or13c25 G T 4: 52,910,849 (GRCm39) T315K probably benign Het
Or4c119 A G 2: 88,986,925 (GRCm39) V198A probably benign Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Papln C A 12: 83,836,028 (GRCm39) Y1222* probably null Het
Pgm3 T G 9: 86,440,531 (GRCm39) I387L possibly damaging Het
Pira12 G C 7: 3,900,871 (GRCm39) P20R probably damaging Het
Pkd1 C A 17: 24,814,131 (GRCm39) P4167Q probably damaging Het
Plcb4 T A 2: 135,854,947 (GRCm39) V1174E probably damaging Het
Polr1b A G 2: 128,943,031 (GRCm39) N9D probably benign Het
Prkaa2 G A 4: 104,893,950 (GRCm39) Q456* probably null Het
Ptch2 G T 4: 116,965,858 (GRCm39) V425L probably benign Het
Ptprh A T 7: 4,552,394 (GRCm39) S957T probably benign Het
Riok1 A G 13: 38,241,177 (GRCm39) D444G probably benign Het
Rrbp1 A T 2: 143,830,211 (GRCm39) V652E probably benign Het
Rrp36 C T 17: 46,983,671 (GRCm39) R47Q possibly damaging Het
Sec24c T C 14: 20,736,955 (GRCm39) S304P probably damaging Het
Serpinb6b A T 13: 33,158,991 (GRCm39) D64V possibly damaging Het
Serpinb9b A T 13: 33,223,531 (GRCm39) probably null Het
Six6 T A 12: 72,988,538 (GRCm39) I237N probably damaging Het
Slc25a36 A T 9: 96,975,135 (GRCm39) M127K probably benign Het
Slc2a10 A G 2: 165,356,550 (GRCm39) D70G probably damaging Het
Slc2a3 T A 6: 122,713,700 (GRCm39) I171F probably damaging Het
Smc4 A G 3: 68,940,401 (GRCm39) T1087A probably damaging Het
Spg21 A G 9: 65,391,779 (GRCm39) Y242C probably damaging Het
St14 A G 9: 31,001,166 (GRCm39) V855A possibly damaging Het
Stx2 G A 5: 129,065,903 (GRCm39) T251M probably damaging Het
Svs3b A T 2: 164,097,848 (GRCm39) S158T probably benign Het
Synpo C T 18: 60,736,661 (GRCm39) M428I probably benign Het
Tasor2 A T 13: 3,626,612 (GRCm39) Y1113N possibly damaging Het
Tbc1d31 G A 15: 57,775,760 (GRCm39) R17H probably damaging Het
Tbl3 G A 17: 24,923,477 (GRCm39) T284I probably benign Het
Tcof1 T C 18: 60,971,927 (GRCm39) T127A possibly damaging Het
Tgoln1 T C 6: 72,593,084 (GRCm39) E132G probably benign Het
Timeless T C 10: 128,077,583 (GRCm39) I221T probably damaging Het
Tmem192 C T 8: 65,418,235 (GRCm39) L207F probably damaging Het
Trank1 T C 9: 111,176,996 (GRCm39) probably null Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Tubb5 T C 17: 36,146,190 (GRCm39) Y340C probably benign Het
Ubr1 G A 2: 120,761,449 (GRCm39) T576I probably benign Het
Vcan T C 13: 89,841,134 (GRCm39) E1470G probably damaging Het
Vmn1r200 T A 13: 22,579,663 (GRCm39) N146K probably damaging Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Vmn2r61 T C 7: 41,949,710 (GRCm39) I710T possibly damaging Het
Wipf1 T A 2: 73,270,499 (GRCm39) K61N probably benign Het
Zfp112 T C 7: 23,824,662 (GRCm39) V210A probably benign Het
Zfp612 G A 8: 110,815,095 (GRCm39) V101M probably benign Het
Zfp637 A G 6: 117,822,681 (GRCm39) R270G probably damaging Het
Zfp652 A G 11: 95,654,851 (GRCm39) E418G possibly damaging Het
Zfp97 A G 17: 17,365,265 (GRCm39) I255V probably benign 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
R1634:Tmem176b UTSW 6 48,811,500 (GRCm39) missense probably damaging 1.00
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'- TGATCTCACAGCCCTGAAACTC -3'
(R):5'- TTCCCCAGCAGGAAAGATGG -3'

Sequencing Primer
(F):5'- GAGAGATAGTTATGTCTTTCCATCCG -3'
(R):5'- TGGTCCAGAGCACAGTGACTG -3'
Posted On 2014-07-14