Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01988:Tmem176a'

181997

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem176a

Ensembl Gene

ENSMUSG00000023367

Gene Name

transmembrane protein 176A

Synonyms

0610011I04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01988

Quality Score

Status

Chromosome

Chromosomal Location

48818417-48822298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48819554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 11 (V11E)

Ref Sequence

ENSEMBL: ENSMUSP00000144729 (fasta)

Gene Model

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

AlphaFold

Q9DCS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101426
AA Change: V76E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098969
Gene: ENSMUSG00000023367
AA Change: V76E

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

SMART Domains

Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164733

SMART Domains

Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166247

SMART Domains

Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168406
AA Change: V76E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131775
Gene: ENSMUSG00000023367
AA Change: V76E

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

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

possibly damaging
Transcript: ENSMUST00000204482
AA Change: V76E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145101
Gene: ENSMUSG00000023367
AA Change: V76E

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: ENSMUST00000204309
AA Change: V11E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203639
AA Change: V76E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145250
Gene: ENSMUSG00000023367
AA Change: V76E

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: ENSMUST00000205159

SMART Domains

Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203355

SMART Domains

Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204073

SMART Domains

Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810

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: ENSMUST00000204400

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: ENSMUST00000203461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203618

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,101,107 (GRCm39)	S493R	probably benign	Het
Abca17	T	C	17: 24,553,229 (GRCm39)	N161D	probably damaging	Het
Ace2	C	A	X: 162,946,988 (GRCm39)	N290K	possibly damaging	Het
Adam26a	G	A	8: 44,022,207 (GRCm39)	P428S	possibly damaging	Het
Adgrv1	T	C	13: 81,705,428 (GRCm39)	R1461G	probably damaging	Het
Arhgef10l	T	C	4: 140,305,672 (GRCm39)		probably benign	Het
Bicc1	A	G	10: 70,792,006 (GRCm39)	V334A	probably damaging	Het
C8a	T	C	4: 104,683,891 (GRCm39)	Y408C	probably damaging	Het
Col24a1	T	C	3: 145,229,922 (GRCm39)		probably null	Het
Copa	T	A	1: 171,945,831 (GRCm39)	N931K	probably benign	Het
Cr1l	A	G	1: 194,799,858 (GRCm39)	M272T	probably damaging	Het
Dcaf12	T	C	4: 41,298,299 (GRCm39)	N283S	probably benign	Het
Dnttip2	T	A	3: 122,069,944 (GRCm39)	S386R	probably benign	Het
Fbll1	G	T	11: 35,688,728 (GRCm39)	D178E	probably benign	Het
Fgd6	A	G	10: 93,910,197 (GRCm39)		probably benign	Het
Fyn	T	A	10: 39,409,917 (GRCm39)	L408*	probably null	Het
Gkn2	T	C	6: 87,356,257 (GRCm39)	V176A	probably benign	Het
Gm10764	G	A	10: 87,126,953 (GRCm39)	C120Y	unknown	Het
Gpr19	A	T	6: 134,846,247 (GRCm39)	F442I	probably damaging	Het
Herc1	A	G	9: 66,395,357 (GRCm39)		probably benign	Het
Il7	A	G	3: 7,669,126 (GRCm39)	Y37H	possibly damaging	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Kif1c	A	G	11: 70,595,762 (GRCm39)	D156G	probably damaging	Het
Lrch1	T	C	14: 75,032,813 (GRCm39)		probably benign	Het
Nedd1	G	T	10: 92,550,021 (GRCm39)	T88K	probably benign	Het
Nlrc3	T	G	16: 3,771,803 (GRCm39)	S875R	probably benign	Het
Optc	A	G	1: 133,834,667 (GRCm39)		probably null	Het
Or4a78	T	A	2: 89,497,424 (GRCm39)	I269F	probably benign	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Pde1b	A	G	15: 103,433,283 (GRCm39)		probably null	Het
Phf11a	A	T	14: 59,514,807 (GRCm39)	D291E	probably damaging	Het
Slc30a8	A	T	15: 52,198,601 (GRCm39)	I349L	probably benign	Het
Spty2d1	T	A	7: 46,647,358 (GRCm39)	S524C	probably damaging	Het
Syndig1	T	C	2: 149,845,090 (GRCm39)		probably benign	Het
Syvn1	G	A	19: 6,102,437 (GRCm39)	A502T	probably benign	Het
Tenm2	A	G	11: 35,918,078 (GRCm39)	L1894P	probably damaging	Het
Tpr	G	T	1: 150,302,750 (GRCm39)		probably null	Het
Txnrd2	T	C	16: 18,274,768 (GRCm39)		probably benign	Het
Ubqln3	G	A	7: 103,792,089 (GRCm39)		probably benign	Het
Vmn1r6	C	T	6: 56,979,650 (GRCm39)	T82I	probably damaging	Het
Wdfy4	C	T	14: 32,798,437 (GRCm39)	E1990K	possibly damaging	Het
Zdhhc7	T	C	8: 120,809,329 (GRCm39)	R293G	probably benign	Het
Zeb1	T	A	18: 5,759,037 (GRCm39)	L148*	probably null	Het

Other mutations in Tmem176a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5329:Tmem176a	UTSW	6	48,819,151 (GRCm39)	missense	probably benign	0.00
R5391:Tmem176a	UTSW	6	48,821,630 (GRCm39)	missense	probably damaging	1.00
R6516:Tmem176a	UTSW	6	48,821,002 (GRCm39)	splice site	probably null
R6846:Tmem176a	UTSW	6	48,820,759 (GRCm39)	missense	probably damaging	1.00
R7138:Tmem176a	UTSW	6	48,820,953 (GRCm39)	missense	probably damaging	1.00
R7524:Tmem176a	UTSW	6	48,821,039 (GRCm39)	missense	probably benign	0.00
R7766:Tmem176a	UTSW	6	48,821,116 (GRCm39)	splice site	probably null
R9673:Tmem176a	UTSW	6	48,820,952 (GRCm39)	missense	probably benign	0.36

Posted On

2014-05-07