Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02374:Tmem176b'

291024

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem176b

Ensembl Gene

ENSMUSG00000029810

Gene Name

transmembrane protein 176B

Synonyms

Lr8, Clast1, 1810009M01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL02374

Quality Score

Status

Chromosome

Chromosomal Location

48810745-48818363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48811560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 30 (N30D)

Ref Sequence

ENSEMBL: ENSMUSP00000144810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101429] [ENSMUST00000164733] [ENSMUST00000166247] [ENSMUST00000203229] [ENSMUST00000203265] [ENSMUST00000203355] [ENSMUST00000203501] [ENSMUST00000204783] [ENSMUST00000205159] [ENSMUST00000204073] [ENSMUST00000205147]

AlphaFold

Q9R1Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000101429
AA Change: N196D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810
AA Change: N196D

Domain	Start	End	E-Value	Type
Pfam:CD20	60	224	5.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164733
AA Change: N196D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810
AA Change: N196D

Domain	Start	End	E-Value	Type
Pfam:CD20	60	224	5.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166247
AA Change: N196D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810
AA Change: N196D

Domain	Start	End	E-Value	Type
Pfam:CD20	60	224	7.6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203229

SMART Domains

Protein: ENSMUSP00000144865
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	195	2.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203265

SMART Domains

Protein: ENSMUSP00000144869
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	194	2.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203355
AA Change: N196D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810
AA Change: N196D

Domain	Start	End	E-Value	Type
Pfam:CD20	60	224	7.6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203501

SMART Domains

Protein: ENSMUSP00000144742
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	170	3.6e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204783
AA Change: N30D

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144810
Gene: ENSMUSG00000029810
AA Change: N30D

Domain	Start	End	E-Value	Type
Pfam:CD20	1	58	1.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205159
AA Change: N196D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810
AA Change: N196D

Domain	Start	End	E-Value	Type
Pfam:CD20	60	196	1.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204073
AA Change: N196D

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810
AA Change: N196D

Domain	Start	End	E-Value	Type
Pfam:CD20	60	224	7.6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205147

SMART Domains

Protein: ENSMUSP00000145235
Gene: ENSMUSG00000029810

Domain	Start	End	E-Value	Type
Pfam:CD20	60	195	2.3e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203618

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl5b	T	C	2: 15,073,003 (GRCm39)	Y35H	probably damaging	Het
Cnksr3	A	G	10: 7,070,335 (GRCm39)	S300P	probably damaging	Het
Col27a1	T	C	4: 63,211,486 (GRCm39)	S1013P	possibly damaging	Het
Cyp39a1	A	G	17: 44,060,872 (GRCm39)		probably benign	Het
Deptor	G	T	15: 55,044,357 (GRCm39)	L174F	probably damaging	Het
Fah	T	C	7: 84,254,909 (GRCm39)	E8G	probably benign	Het
Fastk	C	A	5: 24,649,247 (GRCm39)	A47S	possibly damaging	Het
Foxl2	C	T	9: 98,837,885 (GRCm39)	L58F	probably damaging	Het
Gm57858	T	C	3: 36,074,108 (GRCm39)	Q347R	possibly damaging	Het
Igf2bp2	G	T	16: 21,900,618 (GRCm39)	H106Q	probably benign	Het
Igkv12-47	T	C	6: 69,727,959 (GRCm39)	T71A	probably benign	Het
Ino80d	T	C	1: 63,125,220 (GRCm39)	I81V	possibly damaging	Het
Ints9	G	A	14: 65,276,782 (GRCm39)	E650K	probably benign	Het
Klc2	T	C	19: 5,160,438 (GRCm39)	N408S	possibly damaging	Het
Klhl32	A	T	4: 24,743,856 (GRCm39)		probably null	Het
Ksr1	C	T	11: 78,919,317 (GRCm39)	G504D	probably benign	Het
Lonp2	C	A	8: 87,435,673 (GRCm39)	D636E	probably damaging	Het
Lpin3	G	A	2: 160,737,758 (GRCm39)		probably benign	Het
Mcmdc2	C	T	1: 9,982,207 (GRCm39)	A56V	possibly damaging	Het
Or10al7	A	T	17: 38,366,412 (GRCm39)	V24D	probably damaging	Het
Or4p8	A	T	2: 88,727,803 (GRCm39)	I46N	probably damaging	Het
Pex1	T	C	5: 3,685,481 (GRCm39)	I1163T	probably benign	Het
Ppp1r3a	C	T	6: 14,718,599 (GRCm39)	V772I	probably damaging	Het
Ptbp2	A	T	3: 119,514,342 (GRCm39)		probably benign	Het
Rell1	A	T	5: 64,095,151 (GRCm39)	I105K	possibly damaging	Het
Sis	A	T	3: 72,832,789 (GRCm39)	S1003T	probably benign	Het
Slc26a3	T	A	12: 31,520,832 (GRCm39)		probably benign	Het
Stap1	G	A	5: 86,244,410 (GRCm39)	G264R	probably damaging	Het
Tmprss15	A	T	16: 78,832,056 (GRCm39)	Y367N	probably benign	Het
Ttc41	A	G	10: 86,611,815 (GRCm39)	D1061G	probably damaging	Het
Ufl1	A	C	4: 25,259,237 (GRCm39)	D460E	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Wdfy2	T	C	14: 63,171,833 (GRCm39)	S194P	probably benign	Het
Zfp408	A	C	2: 91,476,156 (GRCm39)	C333G	probably damaging	Het
Zfp592	T	C	7: 80,674,731 (GRCm39)	V565A	probably damaging	Het

Other mutations in Tmem176b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Tmem176b	APN	6	48,811,004 (GRCm39)	missense	possibly damaging	0.79
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
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

Posted On

2015-04-16