Mutagenetix > Incidental Mutation

Incidental Mutation 'R6682:Tmem179'

527549

Institutional Source

Beutler Lab

Gene Symbol

Tmem179

Ensembl Gene

ENSMUSG00000054013

Gene Name

transmembrane protein 179

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112500189-112516747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112503280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 29 (D29N)

Ref Sequence

ENSEMBL: ENSMUSP00000152792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057465] [ENSMUST00000066791] [ENSMUST00000222836] [ENSMUST00000223266]

AlphaFold

Q8BHH9

Predicted Effect

probably benign
Transcript: ENSMUST00000057465

SMART Domains

Protein: ENSMUSP00000056220
Gene: ENSMUSG00000043122

Domain	Start	End	E-Value	Type
Pfam:DUF4658	32	165	4e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066791
AA Change: D162N

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000068004
Gene: ENSMUSG00000054013
AA Change: D162N

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC
transmembrane domain	102	124	N/A	INTRINSIC
transmembrane domain	171	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000222836
AA Change: D29N

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000223266

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	C	1: 139,457,722	V368A	possibly damaging	Het
Bcl9l	A	G	9: 44,501,103	T92A	possibly damaging	Het
Celsr2	A	T	3: 108,400,501		probably null	Het
Cndp2	T	C	18: 84,677,330	K149E	probably benign	Het
Cnpy4	T	C	5: 138,187,722		probably null	Het
Cox6c	A	T	15: 35,938,173		probably null	Het
Cpt2	G	T	4: 107,904,430	S158R	probably damaging	Het
Dlgap1	A	G	17: 70,787,123	K813R	probably damaging	Het
Dock10	A	C	1: 80,512,621	L1927R	probably damaging	Het
Gak	T	A	5: 108,598,876	K430I	probably damaging	Het
Grik3	T	A	4: 125,650,466	Y327N	probably damaging	Het
Ldb3	T	A	14: 34,552,264	T334S	possibly damaging	Het
Ldlr	A	G	9: 21,732,375	D85G	probably benign	Het
Med26	T	A	8: 72,496,083	T391S	probably benign	Het
Mmp27	A	G	9: 7,573,605	T233A	probably benign	Het
Mob1a	A	G	6: 83,334,150	Y117C	possibly damaging	Het
Mrps35	A	T	6: 147,048,279	E97V	possibly damaging	Het
Msln	A	T	17: 25,753,019	S75T	probably damaging	Het
Myoz1	C	T	14: 20,653,619		probably null	Het
Nim1k	A	G	13: 119,712,188	I390T	probably benign	Het
Olfr1301	C	T	2: 111,754,635	P129S	probably damaging	Het
Olfr370	A	G	8: 83,541,558	H138R	probably benign	Het
Pclo	A	C	5: 14,539,879	Q731P	unknown	Het
Prl3d3	G	A	13: 27,161,040	E132K	probably benign	Het
Pth1r	C	T	9: 110,727,251		probably null	Het
Ptpru	T	C	4: 131,820,782	M135V	probably benign	Het
Slc12a9	A	T	5: 137,327,401	L316Q	probably damaging	Het
Slc35f6	G	A	5: 30,657,420	M177I	possibly damaging	Het
Smc4	T	A	3: 69,007,241	S62R	probably damaging	Het
Togaram2	A	T	17: 71,704,754	D476V	probably benign	Het
Trpc4ap	C	T	2: 155,637,767		probably null	Het
Trpm8	C	A	1: 88,326,502	T149K	probably damaging	Het
Uhmk1	C	T	1: 170,212,235		probably null	Het
Vmn2r79	C	A	7: 87,004,162	T545K	possibly damaging	Het
Vmn2r95	C	A	17: 18,440,227	N300K	probably damaging	Het
Wdr41	G	A	13: 95,013,131	G419D	probably damaging	Het
Zc3hav1	A	T	6: 38,325,195	H597Q	probably benign	Het
Zfp704	T	C	3: 9,565,193	E36G	probably benign	Het
Zfp9	A	G	6: 118,467,241	V47A	possibly damaging	Het

Other mutations in Tmem179

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1470:Tmem179	UTSW	12	112501854	missense	probably benign	0.05
R1470:Tmem179	UTSW	12	112501854	missense	probably benign	0.05
R1553:Tmem179	UTSW	12	112504660	missense	probably benign
R2405:Tmem179	UTSW	12	112501913	missense	probably damaging	1.00
R4125:Tmem179	UTSW	12	112511027	missense	possibly damaging	0.71
R4128:Tmem179	UTSW	12	112511027	missense	possibly damaging	0.71
R4480:Tmem179	UTSW	12	112503303	missense	probably benign
R4916:Tmem179	UTSW	12	112501834	missense	probably damaging	1.00
R7636:Tmem179	UTSW	12	112510743	critical splice donor site	probably null
R8982:Tmem179	UTSW	12	112501867	missense	probably damaging	1.00
R9321:Tmem179	UTSW	12	112510956	missense	probably damaging	0.99

Predicted Primers

Posted On

2018-07-23