Incidental Mutation 'IGL03027:Tmem176b'
ID408206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem176b
Ensembl Gene ENSMUSG00000029810
Gene Nametransmembrane protein 176B
Synonyms1810009M01Rik, Clast1, Lr8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL03027
Quality Score
Status
Chromosome6
Chromosomal Location48833818-48841496 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 48835639 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 131 (A131T)
Ref Sequence ENSEMBL: ENSMUSP00000144742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101429] [ENSMUST00000164733] [ENSMUST00000166247] [ENSMUST00000203229] [ENSMUST00000203265] [ENSMUST00000203355] [ENSMUST00000203501] [ENSMUST00000204073] [ENSMUST00000204783] [ENSMUST00000205147] [ENSMUST00000205159]
Predicted Effect possibly damaging
Transcript: ENSMUST00000101429
AA Change: A131T

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810
AA Change: A131T

DomainStartEndE-ValueType
Pfam:CD20 60 224 5.2e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164733
AA Change: A131T

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810
AA Change: A131T

DomainStartEndE-ValueType
Pfam:CD20 60 224 5.2e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166247
AA Change: A131T

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810
AA Change: A131T

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203229
AA Change: A131T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144865
Gene: ENSMUSG00000029810
AA Change: A131T

DomainStartEndE-ValueType
Pfam:CD20 60 195 2.3e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203265
AA Change: A131T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144869
Gene: ENSMUSG00000029810
AA Change: A131T

DomainStartEndE-ValueType
Pfam:CD20 60 194 2.9e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203355
AA Change: A131T

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810
AA Change: A131T

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203501
AA Change: A131T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144742
Gene: ENSMUSG00000029810
AA Change: A131T

DomainStartEndE-ValueType
Pfam:CD20 60 170 3.6e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203618
Predicted Effect possibly damaging
Transcript: ENSMUST00000204073
AA Change: A131T

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810
AA Change: A131T

DomainStartEndE-ValueType
Pfam:CD20 60 224 7.6e-46 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 possibly damaging
Transcript: ENSMUST00000205147
AA Change: A131T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145235
Gene: ENSMUSG00000029810
AA Change: A131T

DomainStartEndE-ValueType
Pfam:CD20 60 195 2.3e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205159
AA Change: A131T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810
AA Change: A131T

DomainStartEndE-ValueType
Pfam:CD20 60 196 1.2e-35 PFAM
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 A T 17: 43,296,714 Y108F probably damaging Het
Afap1 T C 5: 35,961,750 I243T probably benign Het
Ano5 A G 7: 51,566,277 D320G probably damaging Het
Arhgef1 T A 7: 24,923,732 I423K probably damaging Het
Casp9 A G 4: 141,812,273 E410G probably benign Het
Ccdc39 A C 3: 33,830,118 H358Q probably benign Het
Ces5a A T 8: 93,523,114 probably null Het
Clip1 A T 5: 123,621,856 M935K probably benign Het
Col12a1 A G 9: 79,641,551 Y2171H probably benign Het
Cyp2f2 A T 7: 27,132,571 N417I possibly damaging Het
Dock3 G A 9: 106,993,478 P579L probably damaging Het
Dock7 T C 4: 99,070,213 T334A possibly damaging Het
Dock7 T C 4: 98,977,927 M1209V probably benign Het
Dst A T 1: 34,186,025 I1171F possibly damaging Het
Eya1 G T 1: 14,170,966 H576N probably damaging Het
Fam117a A G 11: 95,377,573 T267A probably benign Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gabra6 T C 11: 42,315,153 H291R probably damaging Het
Gm7145 T C 1: 117,967,687 S27P probably benign Het
Gpt C T 15: 76,698,089 probably benign Het
Grip2 A G 6: 91,778,871 I586T probably benign Het
Hif1a C T 12: 73,940,477 P448L probably benign Het
Hmcn1 C T 1: 150,808,539 V427I probably benign Het
Ipo8 C A 6: 148,777,239 V954L probably benign Het
Kdm5a G T 6: 120,374,990 probably null Het
Klhl36 T A 8: 119,876,490 S495T probably benign Het
Lpar5 T A 6: 125,082,240 L308Q probably damaging Het
Lrp2 T G 2: 69,537,553 D205A probably benign Het
Lrriq1 A G 10: 103,227,196 I83T probably benign Het
Mapk8ip2 A T 15: 89,458,107 D507V probably damaging Het
Mical1 T C 10: 41,479,505 probably benign Het
Myef2 T A 2: 125,089,034 H539L possibly damaging Het
Myh7 T C 14: 54,983,550 E972G probably damaging Het
Naip5 A G 13: 100,223,016 Y571H probably benign Het
Nfasc T A 1: 132,610,469 N478I probably damaging Het
Olfr786 A G 10: 129,436,911 Y33C probably damaging Het
Pde2a A T 7: 101,481,420 Q89L probably benign Het
Ppard C A 17: 28,299,791 T422K possibly damaging Het
Ppp1r13b G T 12: 111,830,396 Y904* probably null Het
Ptx4 T A 17: 25,125,048 I424K possibly damaging Het
Rab19 A G 6: 39,383,993 D25G probably damaging Het
Rbl2 T A 8: 91,078,906 I197N possibly damaging Het
Rttn A G 18: 88,979,690 D273G probably damaging Het
Sec16a G A 2: 26,423,589 R1920C probably benign Het
Sec23b A T 2: 144,587,545 N731I possibly damaging Het
Serpinb9d G A 13: 33,202,715 W255* probably null Het
Sim2 G A 16: 94,109,492 probably benign Het
Tbl3 T C 17: 24,701,193 probably null Het
Tcrg-C1 G T 13: 19,214,393 G97* probably null Het
Tmem181a T A 17: 6,298,219 V332D probably damaging Het
Tuba3b T A 6: 145,619,391 L195Q probably damaging Het
Ubc A T 5: 125,387,501 V254D probably damaging Het
Ube4b G T 4: 149,381,277 P239T probably damaging Het
Vars G T 17: 35,013,687 M862I probably damaging Het
Vmn2r66 T C 7: 84,995,569 probably benign Het
Wdr59 G A 8: 111,462,192 A720V probably damaging Het
Zfhx3 G A 8: 108,793,188 R314Q probably damaging Het
Other mutations in Tmem176b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00961:Tmem176b APN 6 48834070 missense possibly damaging 0.79
IGL02374:Tmem176b APN 6 48834626 missense possibly damaging 0.60
IGL03134:Tmem176b UTSW 6 48838353 missense probably benign 0.00
R1634:Tmem176b UTSW 6 48834566 missense probably damaging 1.00
R1920:Tmem176b UTSW 6 48838204 missense possibly damaging 0.70
R2008:Tmem176b UTSW 6 48835449 missense probably damaging 0.97
R2056:Tmem176b UTSW 6 48836333 missense probably damaging 0.97
R2057:Tmem176b UTSW 6 48836333 missense probably damaging 0.97
R2059:Tmem176b UTSW 6 48836333 missense probably damaging 0.97
R5099:Tmem176b UTSW 6 48834529 missense probably benign
R5484:Tmem176b UTSW 6 48834533 missense probably benign 0.01
R5623:Tmem176b UTSW 6 48834070 missense probably benign 0.14
R6102:Tmem176b UTSW 6 48835934 missense probably benign 0.30
R6413:Tmem176b UTSW 6 48838332 missense possibly damaging 0.94
Posted On2016-08-02