Mutagenetix > Incidental Mutations

Incidental Mutation 'R5623:Tmem176b'

441677

Institutional Source

Beutler Lab

Gene Symbol

Tmem176b

Ensembl Gene

ENSMUSG00000029810

Gene Name

transmembrane protein 176B

Synonyms

1810009M01Rik, Clast1, Lr8

MMRRC Submission

043162-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R5623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48833818-48841496 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 48834070 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 259 (I259L)

Ref Sequence

ENSEMBL: ENSMUSP00000144864 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000101429
AA Change: I259L

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810
AA Change: I259L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164733
AA Change: I259L

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810
AA Change: I259L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166247
AA Change: I259L

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810
AA Change: I259L

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: I259L

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810
AA Change: I259L

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

noncoding transcript
Transcript: ENSMUST00000203618

Predicted Effect

probably benign
Transcript: ENSMUST00000204073
AA Change: I259L

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810
AA Change: I259L

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

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: ENSMUST00000205147

SMART Domains

Protein: ENSMUSP00000145235
Gene: ENSMUSG00000029810

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

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: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (65/66)

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
Atp8b1	T	G	18: 64,546,094	Q772P	possibly damaging	Het
B3gnt2	C	G	11: 22,837,018	A57P	probably damaging	Het
BC067074	T	C	13: 113,346,634	I1590T	possibly damaging	Het
Birc6	T	G	17: 74,528,656	D63E	probably damaging	Het
Ccdc13	T	C	9: 121,833,733	E72G	probably damaging	Het
Cfap221	C	T	1: 119,954,168	A297T	probably benign	Het
Chd1	T	A	17: 15,754,932	N1081K	probably damaging	Het
Chrm3	C	A	13: 9,877,387	V538L	possibly damaging	Het
Clec16a	T	A	16: 10,611,121	N37K	probably benign	Het
Cnksr3	T	A	10: 7,120,548	I229F	probably damaging	Het
Dchs1	T	C	7: 105,772,769	E148G	probably damaging	Het
Diaph1	A	T	18: 37,896,093		probably benign	Het
Dis3l	A	G	9: 64,307,603	F895L	possibly damaging	Het
Dnah1	G	T	14: 31,286,023	D2142E	possibly damaging	Het
Dst	T	C	1: 34,190,133	V1944A	possibly damaging	Het
Eif4a2	C	T	16: 23,110,219		probably benign	Het
Ephb6	T	A	6: 41,616,481	M487K	probably benign	Het
Fgf18	T	G	11: 33,134,272	T61P	probably damaging	Het
G6pc2	A	G	2: 69,226,583	E191G	probably damaging	Het
Gm10717	C	T	9: 3,026,318	S55L	probably benign	Het
Gm5414	A	G	15: 101,625,811	F286S	probably damaging	Het
Gpcpd1	G	T	2: 132,534,717	A553E	probably damaging	Het
Gpr153	A	G	4: 152,281,941	D321G	possibly damaging	Het
Hecw2	T	A	1: 53,832,623	Q1388L	probably null	Het
Ighv14-3	A	C	12: 114,060,090	S36A	probably damaging	Het
Inpp5j	C	A	11: 3,494,766	G969V	probably damaging	Het
Kat5	G	A	19: 5,607,562	R307W	probably damaging	Het
Klk1b21	A	G	7: 44,105,565	S95G	probably damaging	Het
Mdm1	G	A	10: 118,150,789	V171I	possibly damaging	Het
Nfu1	TCGC	T	6: 87,016,206		probably benign	Het
Olfr175-ps1	C	T	16: 58,824,343	R122H	probably benign	Het
Olfr776	G	A	10: 129,261,032	V24M	probably benign	Het
Phkb	T	A	8: 85,843,048		probably benign	Het
Pkd1l3	A	T	8: 109,623,719	T399S	possibly damaging	Het
Prr14l	A	T	5: 32,844,508		probably benign	Het
Psg21	A	C	7: 18,655,014	L51R	probably damaging	Het
Ptprg	T	A	14: 12,153,857	I526N	probably damaging	Het
Rab1a	T	C	11: 20,201,626		probably benign	Het
Rims2	A	T	15: 39,478,615	Q620L	probably damaging	Het
Rnf215	T	G	11: 4,135,453	S58A	probably benign	Het
Scaper	A	C	9: 55,864,507	V375G	probably benign	Het
Sgk3	A	T	1: 9,802,295		probably benign	Het
Skiv2l	T	C	17: 34,847,432	K192E	probably benign	Het
Slc34a3	T	A	2: 25,233,300		probably null	Het
Sspn	T	A	6: 145,961,226	C52S	probably damaging	Het
Strip1	T	C	3: 107,626,826	E164G	possibly damaging	Het
Sult5a1	A	C	8: 123,157,442	S47A	probably damaging	Het
Svep1	T	C	4: 58,091,964	D1557G	possibly damaging	Het
Tdrd6	T	C	17: 43,629,333	I275V	probably damaging	Het
Thada	C	T	17: 84,191,983	V1929I	probably benign	Het
Tmem132b	G	A	5: 125,623,352	R318Q	probably damaging	Het
Tmppe	C	A	9: 114,405,896	P421Q	possibly damaging	Het
Tmprss11e	G	A	5: 86,709,456	Q333*	probably null	Het
Tpcn2	T	A	7: 145,267,334	R328W	possibly damaging	Het
Trem1	C	T	17: 48,237,055	T36I	probably damaging	Het
Trpm2	C	A	10: 77,932,139	R842L	probably damaging	Het
Zfp319	A	G	8: 95,325,571		probably benign	Het

Other mutations in Tmem176b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Tmem176b	APN	6	48834070	missense	possibly damaging	0.79
IGL02374:Tmem176b	APN	6	48834626	missense	possibly damaging	0.60
IGL03027:Tmem176b	APN	6	48835639	missense	probably damaging	1.00
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
R6102:Tmem176b	UTSW	6	48835934	missense	probably benign	0.30
R6413:Tmem176b	UTSW	6	48838332	missense	possibly damaging	0.94
R7723:Tmem176b	UTSW	6	48835935	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACATTGGCGTGAGGACAGTG -3'
(R):5'- TGTCGAAGTCTGTTCCTCAC -3'

Sequencing Primer
(F):5'- CGTGAGGACAGTGGGGAG -3'
(R):5'- TCACCTTTCCTGCCGGAGAG -3'

Posted On

2016-11-08