Mutagenetix > Incidental Mutation

Incidental Mutation 'R5099:Tmem176b'

388173

Institutional Source

Beutler Lab

Gene Symbol

Tmem176b

Ensembl Gene

ENSMUSG00000029810

Gene Name

transmembrane protein 176B

Synonyms

Lr8, Clast1, 1810009M01Rik

MMRRC Submission

042688-MU

Accession Numbers

Essential gene?

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

Stock #

R5099 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48810745-48818363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48811463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 62 (Y62C)

Ref Sequence

ENSEMBL: ENSMUSP00000144810 (fasta)

Gene Model

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

AlphaFold

Q9R1Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000101429
AA Change: Y228C

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

SMART Domains

Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810
AA Change: Y228C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164733
AA Change: Y228C

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

SMART Domains

Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810
AA Change: Y228C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166247
AA Change: Y228C

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

SMART Domains

Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810
AA Change: Y228C

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: Y228C

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

SMART Domains

Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810
AA Change: Y228C

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

probably benign
Transcript: ENSMUST00000204073
AA Change: Y228C

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

SMART Domains

Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810
AA Change: Y228C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204783
AA Change: Y62C

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

SMART Domains

Protein: ENSMUSP00000144810
Gene: ENSMUSG00000029810
AA Change: Y62C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205159

SMART Domains

Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (41/42)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsa	A	G	15: 89,359,542 (GRCm39)	L80P	probably damaging	Het
Bdkrb1	A	G	12: 105,570,533 (GRCm39)	D33G	probably benign	Het
Ccdc178	A	T	18: 22,238,648 (GRCm39)	V323E	probably benign	Het
Ceacam5	T	C	7: 17,479,513 (GRCm39)	V210A	probably damaging	Het
Dcdc2a	A	G	13: 25,291,681 (GRCm39)	E222G	probably benign	Het
Gbp9	A	T	5: 105,242,379 (GRCm39)	L120Q	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gsr	T	A	8: 34,161,556 (GRCm39)	I121N	probably damaging	Het
Ift140	T	A	17: 25,309,674 (GRCm39)	M1068K	probably damaging	Het
Jakmip2	A	G	18: 43,701,173 (GRCm39)	I414T	probably benign	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Mecom	A	G	3: 30,039,465 (GRCm39)		probably benign	Het
Mff	C	T	1: 82,728,192 (GRCm39)		probably benign	Het
Ms4a20	T	C	19: 11,089,825 (GRCm39)		probably null	Het
Neb	C	T	2: 52,085,460 (GRCm39)	C1545Y	probably damaging	Het
Or5ac24	C	T	16: 59,165,266 (GRCm39)	G266D	probably benign	Het
Or5p5	A	G	7: 107,413,809 (GRCm39)	H6R	probably benign	Het
Or8k36-ps1	A	T	2: 86,437,560 (GRCm39)	N118K	unknown	Het
Ppm1n	A	T	7: 19,011,903 (GRCm39)	L392Q	possibly damaging	Het
Prr22	T	C	17: 57,078,467 (GRCm39)	F207L	probably benign	Het
Ptprv	T	C	1: 135,046,592 (GRCm39)		noncoding transcript	Het
Rin2	G	A	2: 145,720,821 (GRCm39)	C718Y	probably damaging	Het
Rpgrip1l	G	A	8: 91,975,350 (GRCm39)	T1089I	probably benign	Het
Scn1a	A	G	2: 66,108,145 (GRCm39)	V1510A	probably damaging	Het
Slfn3	A	T	11: 83,105,764 (GRCm39)	Y587F	probably damaging	Het
Sp2	T	C	11: 96,852,175 (GRCm39)	K250E	probably damaging	Het
Ssu2	A	G	6: 112,336,585 (GRCm39)	S333P	probably benign	Het
Strbp	T	C	2: 37,493,030 (GRCm39)	T419A	probably damaging	Het
Tada2b	A	T	5: 36,633,744 (GRCm39)	M203K	probably benign	Het
Tox	G	T	4: 6,688,958 (GRCm39)	Q469K	probably benign	Het
Trgv5	G	T	13: 19,376,886 (GRCm39)	C111F	probably damaging	Het
Tyw5	T	C	1: 57,427,864 (GRCm39)	N243D	probably damaging	Het
Ube2q2	T	A	9: 55,113,307 (GRCm39)		probably benign	Het
Ufl1	C	T	4: 25,275,914 (GRCm39)	R83Q	probably damaging	Het
Unk	A	G	11: 115,949,936 (GRCm39)	Q701R	probably benign	Het
Vmn1r60	A	T	7: 5,547,816 (GRCm39)	C95S	probably damaging	Het
Vmn1r81	A	G	7: 11,994,248 (GRCm39)	I120T	possibly 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
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
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'- TTTCCGCACTTGAAAGCAGC -3'
(R):5'- AGAGGATGCCACCTGCTTTC -3'

Sequencing Primer
(F):5'- TGACAGCAAGGAGGAGCTCTC -3'
(R):5'- CTTTCCTGGAAAGTGTCTGGAC -3'

Posted On

2016-06-06