Mutagenetix > Incidental Mutation

Incidental Mutation 'R6413:Tmem176b'

514813

Institutional Source

Beutler Lab

Gene Symbol

Tmem176b

Ensembl Gene

ENSMUSG00000029810

Gene Name

transmembrane protein 176B

Synonyms

Lr8, Clast1, 1810009M01Rik

MMRRC Submission

044555-MU

Accession Numbers

Essential gene?

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

Stock #

R6413 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48810745-48818363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48815266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 9 (N9S)

Ref Sequence

ENSEMBL: ENSMUSP00000144949 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000101429
AA Change: N9S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810
AA Change: N9S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164733
AA Change: N9S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810
AA Change: N9S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166247
AA Change: N9S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810
AA Change: N9S

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

possibly damaging
Transcript: ENSMUST00000203229
AA Change: N9S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144865
Gene: ENSMUSG00000029810
AA Change: N9S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203265
AA Change: N9S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144869
Gene: ENSMUSG00000029810
AA Change: N9S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203355
AA Change: N9S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810
AA Change: N9S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203501
AA Change: N9S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144742
Gene: ENSMUSG00000029810
AA Change: N9S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204073
AA Change: N9S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810
AA Change: N9S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205147
AA Change: N9S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145235
Gene: ENSMUSG00000029810
AA Change: N9S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205159
AA Change: N9S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810
AA Change: N9S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204400

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

noncoding transcript
Transcript: ENSMUST00000203461

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

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: ENSMUST00000204309

Meta Mutation Damage Score

0.3387

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (37/37)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,624,647 (GRCm39)		probably benign	Het
Agtpbp1	A	G	13: 59,647,834 (GRCm39)	V662A	possibly damaging	Het
Ambra1	T	G	2: 91,599,429 (GRCm39)	V183G	possibly damaging	Het
Amdhd2	A	G	17: 24,377,290 (GRCm39)	S208P	probably damaging	Het
Ankdd1a	C	T	9: 65,417,654 (GRCm39)	V133I	probably benign	Het
Ankrd35	A	G	3: 96,592,129 (GRCm39)	K805R	probably damaging	Het
Arhgap28	T	C	17: 68,182,583 (GRCm39)	Q270R	probably benign	Het
Cabp2	G	A	19: 4,135,698 (GRCm39)		probably null	Het
Ccnt1	A	G	15: 98,441,850 (GRCm39)	S473P	probably benign	Het
Cenpt	G	A	8: 106,572,973 (GRCm39)	P373S	possibly damaging	Het
Cyp3a44	T	A	5: 145,731,254 (GRCm39)	D182V	probably damaging	Het
Ddx54	A	G	5: 120,765,127 (GRCm39)	T799A	probably benign	Het
Dtna	T	A	18: 23,755,071 (GRCm39)	D464E	probably damaging	Het
E030025P04Rik	T	C	11: 109,030,425 (GRCm39)	Y154C	unknown	Het
Ephb2	C	A	4: 136,498,433 (GRCm39)	E215D	probably benign	Het
Eya4	T	C	10: 22,992,724 (GRCm39)	D445G	probably damaging	Het
Flg2	A	T	3: 93,127,683 (GRCm39)	L2198F	unknown	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Klhl22	T	C	16: 17,607,181 (GRCm39)	F496L	probably benign	Het
Numa1	A	T	7: 101,639,778 (GRCm39)		probably null	Het
Papola	T	C	12: 105,772,763 (GRCm39)		probably benign	Het
Phldb1	T	C	9: 44,607,440 (GRCm39)	E1255G	probably damaging	Het
Rgs8	A	T	1: 153,568,619 (GRCm39)	D168V	probably damaging	Het
Rlf	A	G	4: 121,004,522 (GRCm39)	V1486A	probably damaging	Het
Rpa2	G	T	4: 132,501,156 (GRCm39)	A118S	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpina1f	T	A	12: 103,659,953 (GRCm39)	I110F	probably damaging	Het
Serpini2	T	C	3: 75,166,921 (GRCm39)	Y112C	probably damaging	Het
Sh2b3	A	G	5: 121,966,986 (GRCm39)	Y43H	probably damaging	Het
Shank2	A	G	7: 143,963,955 (GRCm39)	E514G	probably damaging	Het
Slc44a5	T	C	3: 153,963,387 (GRCm39)	F388S	probably benign	Het
Spmip6	A	T	4: 41,505,135 (GRCm39)	V196D	possibly damaging	Het
Trip11	T	A	12: 101,851,790 (GRCm39)	Q758L	probably benign	Het
Trrap	T	A	5: 144,720,856 (GRCm39)	I231N	possibly damaging	Het
Ttn	A	T	2: 76,730,397 (GRCm39)		probably benign	Het
Vmn2r68	T	C	7: 84,870,973 (GRCm39)	N770S	probably damaging	Het
Vmn2r73	A	T	7: 85,519,544 (GRCm39)	Y471*	probably null	Het
Vmn2r8	T	G	5: 108,949,589 (GRCm39)	E419D	probably benign	Het
Wdfy4	C	A	14: 32,689,604 (GRCm39)	L2818F	probably damaging	Het
Zfhx4	A	T	3: 5,308,205 (GRCm39)	Y477F	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
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
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'- CCTATCCAAGATGGGAGTCTCC -3'
(R):5'- GGCTCTACAAGTGGTTTGGATC -3'

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

Posted On

2018-05-04