Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03134:Tmem176b'

453160

Institutional Source

Beutler Lab

Gene Symbol

Tmem176b

Ensembl Gene

ENSMUSG00000029810

Gene Name

transmembrane protein 176B

Synonyms

Lr8, Clast1, 1810009M01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL03134 (G1)

Quality Score

127

Status

Validated

Chromosome

Chromosomal Location

48810745-48818363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48815287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2 (V2A)

Ref Sequence

ENSEMBL: ENSMUSP00000144949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101426] [ENSMUST00000101429] [ENSMUST00000164733] [ENSMUST00000166247] [ENSMUST00000168406] [ENSMUST00000203229] [ENSMUST00000203265] [ENSMUST00000203501] [ENSMUST00000205147] [ENSMUST00000203355] [ENSMUST00000204073] [ENSMUST00000205159] [ENSMUST00000203639] [ENSMUST00000204309] [ENSMUST00000204400] [ENSMUST00000204783] [ENSMUST00000204482]

AlphaFold

Q9R1Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000101426

SMART Domains

Protein: ENSMUSP00000098969
Gene: ENSMUSG00000023367

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
Pfam:CD20	63	223	8.7e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101429
AA Change: V2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810
AA Change: V2A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164733
AA Change: V2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810
AA Change: V2A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166247
AA Change: V2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810
AA Change: V2A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168406

SMART Domains

Protein: ENSMUSP00000131775
Gene: ENSMUSG00000023367

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
Pfam:CD20	63	223	2.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203229
AA Change: V2A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144865
Gene: ENSMUSG00000029810
AA Change: V2A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203265
AA Change: V2A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144869
Gene: ENSMUSG00000029810
AA Change: V2A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203501
AA Change: V2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144742
Gene: ENSMUSG00000029810
AA Change: V2A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205147
AA Change: V2A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000145235
Gene: ENSMUSG00000029810
AA Change: V2A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203355
AA Change: V2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810
AA Change: V2A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204073
AA Change: V2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810
AA Change: V2A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205159
AA Change: V2A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810
AA Change: V2A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203618

Predicted Effect

probably benign
Transcript: ENSMUST00000203639

SMART Domains

Protein: ENSMUSP00000145250
Gene: ENSMUSG00000023367

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
Pfam:CD20	63	223	8.4e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203461

Predicted Effect

probably benign
Transcript: ENSMUST00000204400

Predicted Effect

probably benign
Transcript: ENSMUST00000204783

SMART Domains

Protein: ENSMUSP00000144810
Gene: ENSMUSG00000029810

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204482

SMART Domains

Protein: ENSMUSP00000145101
Gene: ENSMUSG00000023367

Domain	Start	End	E-Value	Type
low complexity region	32	44	N/A	INTRINSIC
Pfam:CD20	63	223	8.7e-36	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (66/66)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414J04Rik	A	T	11: 21,457,249 (GRCm39)		noncoding transcript	Het
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Afdn	C	T	17: 14,066,548 (GRCm39)	T580I	probably benign	Het
Ankfy1	G	T	11: 72,603,011 (GRCm39)	L13F	probably damaging	Het
Arhgap12	T	C	18: 6,111,936 (GRCm39)	T143A	probably benign	Het
Arsi	T	G	18: 61,050,424 (GRCm39)	W436G	probably damaging	Het
Bcl2l10	C	T	9: 75,255,480 (GRCm39)	T99M	probably damaging	Het
Cacna1a	A	G	8: 85,285,716 (GRCm39)	Q740R	probably damaging	Het
Cacna1g	A	G	11: 94,350,651 (GRCm39)	F398S	probably damaging	Het
Ccrl2	A	C	9: 110,884,725 (GRCm39)	Y258D	probably damaging	Het
Cemip	T	A	7: 83,648,445 (GRCm39)	D38V	probably damaging	Het
Chd6	C	G	2: 160,807,403 (GRCm39)	C1937S	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Col1a2	T	G	6: 4,521,387 (GRCm39)		probably benign	Het
Col4a1	T	C	8: 11,290,069 (GRCm39)		probably null	Het
Cops7b	T	A	1: 86,520,056 (GRCm39)	L69Q	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Ddx3y	T	A	Y: 1,278,949 (GRCm39)	D163V	possibly damaging	Het
Dnajc19	A	G	3: 34,132,884 (GRCm39)		probably benign	Het
Fhip2b	T	C	14: 70,826,149 (GRCm39)	T288A	possibly damaging	Het
G2e3	T	A	12: 51,410,813 (GRCm39)		probably benign	Het
Gimap7	A	G	6: 48,700,435 (GRCm39)	N7S	probably benign	Het
Gkap1	G	A	13: 58,411,746 (GRCm39)		probably benign	Het
Gm3404	G	A	5: 146,463,706 (GRCm39)	R117Q	probably benign	Het
Herc1	T	TN	9: 66,341,345 (GRCm39)		probably benign	Homo
Homer3	T	C	8: 70,738,985 (GRCm39)	Y115H	probably benign	Het
Ighv10-1	T	A	12: 114,442,689 (GRCm39)	M99L	probably benign	Het
Kdm2b	A	C	5: 123,070,737 (GRCm39)	S398R	probably damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mettl25	G	A	10: 105,661,888 (GRCm39)	Q361*	probably null	Het
Mkrn2	T	A	6: 115,590,496 (GRCm39)	I284N	probably damaging	Het
Mmp14	T	A	14: 54,676,563 (GRCm39)	N369K	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Myo6	C	G	9: 80,199,749 (GRCm39)	N1019K	probably damaging	Het
Myo7a	C	T	7: 97,705,974 (GRCm39)	V1857I	probably damaging	Het
Nhsl3	A	G	4: 129,116,280 (GRCm39)	S783P	possibly damaging	Het
Nktr	T	C	9: 121,575,532 (GRCm39)	S347P	probably damaging	Het
Nup210	T	G	6: 91,007,172 (GRCm39)	D548A	probably damaging	Het
Nup210l	A	G	3: 90,098,194 (GRCm39)	Y1382C	possibly damaging	Het
Or14c41	G	A	7: 86,235,220 (GRCm39)	V246M	probably damaging	Het
Or1e23	T	A	11: 73,407,941 (GRCm39)	Y28F	probably benign	Het
Pax8	T	C	2: 24,311,403 (GRCm39)		probably benign	Het
Pcdhgb7	A	G	18: 37,884,935 (GRCm39)	Y35C	probably damaging	Het
Pld1	A	T	3: 28,083,316 (GRCm39)	R145S	probably benign	Het
Pom121	G	A	5: 135,410,935 (GRCm39)	P741S	unknown	Het
Rarb	T	C	14: 16,436,910 (GRCm38)	N204D	probably damaging	Het
Sdc3	A	G	4: 130,548,815 (GRCm39)	E337G	probably benign	Het
Serpina9	T	C	12: 103,967,696 (GRCm39)	K233R	probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,427,999 (GRCm39)	M159K	probably benign	Het
Stxbp4	C	A	11: 90,498,010 (GRCm39)	R96S	probably damaging	Het
Tg	A	C	15: 66,612,567 (GRCm39)	E375A	probably damaging	Het
Toporsl	G	A	4: 52,610,281 (GRCm39)	C58Y	probably damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Vav3	T	C	3: 109,470,410 (GRCm39)		probably benign	Het
Zfp180	T	A	7: 23,804,170 (GRCm39)	D196E	possibly damaging	Het
Zfp407	C	T	18: 84,228,080 (GRCm39)	S1843N	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCAAGATGGGAGTCTCCACC -3'
(R):5'- AAAGGCTCTACAAGTGGTTTGG -3'

Sequencing Primer
(F):5'- TGTGCCACCTCAGGAACTC -3'
(R):5'- TGGATCTTCAATCAGGGCCAC -3'

Posted On

2017-01-30