Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01883:Tmem79'

179058

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem79

Ensembl Gene

ENSMUSG00000001420

Gene Name

transmembrane protein 79

Synonyms

Matt, mattrin, 2310042N02Rik, ma, 2310074C17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01883

Quality Score

Status

Chromosome

Chromosomal Location

88236351-88241761 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88237145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 353 (N353D)

Ref Sequence

ENSEMBL: ENSMUSP00000103177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001454] [ENSMUST00000001456] [ENSMUST00000107552] [ENSMUST00000107553] [ENSMUST00000131666] [ENSMUST00000177005] [ENSMUST00000176425] [ENSMUST00000176519] [ENSMUST00000193872] [ENSMUST00000154381]

AlphaFold

Q9D709

Predicted Effect

probably benign
Transcript: ENSMUST00000001454

SMART Domains

Protein: ENSMUSP00000001454
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:NCU-G1	53	130	2.7e-26	PFAM
Pfam:NCU-G1	124	333	4.8e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000001456
AA Change: N353D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001456
Gene: ENSMUSG00000001420
AA Change: N353D

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	79	89	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	312	330	N/A	INTRINSIC
transmembrane domain	337	359	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107552
AA Change: N353D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103176
Gene: ENSMUSG00000001420
AA Change: N353D

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	79	89	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	312	330	N/A	INTRINSIC
transmembrane domain	337	359	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107553
AA Change: N353D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103177
Gene: ENSMUSG00000001420
AA Change: N353D

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	79	89	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	312	330	N/A	INTRINSIC
transmembrane domain	337	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131666

SMART Domains

Protein: ENSMUSP00000120235
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193646

Predicted Effect

probably benign
Transcript: ENSMUST00000177005

SMART Domains

Protein: ENSMUSP00000135398
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:NCU-G1	54	397	1.1e-104	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176425

SMART Domains

Protein: ENSMUSP00000135575
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:NCU-G1	37	314	3.3e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176519

SMART Domains

Protein: ENSMUSP00000135263
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
Pfam:NCU-G1	53	125	4.7e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193872

SMART Domains

Protein: ENSMUSP00000141830
Gene: ENSMUSG00000001420

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	79	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154381

SMART Domains

Protein: ENSMUSP00000134809
Gene: ENSMUSG00000001418

Domain	Start	End	E-Value	Type
Pfam:NCU-G1	2	72	5.4e-18	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit abnormal coat/hair pigmentation, abnormal zigzag hair morphology, and a more sparse and shiny coat than wild-type controls. Some adults display a mild irritation around the eyes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	C	A	1: 58,177,442 (GRCm39)	P219Q	probably damaging	Het
Arl2	A	G	19: 6,187,521 (GRCm39)	L109P	probably damaging	Het
Bhlha9	T	C	11: 76,563,924 (GRCm39)	S184P	probably benign	Het
C2cd3	G	A	7: 100,023,693 (GRCm39)	R93H	possibly damaging	Het
Cdcp1	A	G	9: 123,012,663 (GRCm39)	F295L	probably benign	Het
Cpsf7	A	T	19: 10,503,387 (GRCm39)	D6V	possibly damaging	Het
Fbxw28	A	T	9: 109,157,393 (GRCm39)	V285E	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm18025	T	A	12: 34,340,692 (GRCm39)	I134F	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Kif11	A	C	19: 37,372,791 (GRCm39)	T60P	probably benign	Het
Myo7b	T	C	18: 32,131,204 (GRCm39)	D521G	probably damaging	Het
Polg	A	G	7: 79,108,066 (GRCm39)	L583P	probably damaging	Het
Ppp6r1	A	T	7: 4,642,986 (GRCm39)		probably null	Het
Rmc1	G	A	18: 12,311,296 (GRCm39)	V125I	probably benign	Het
Snap91	A	T	9: 86,657,665 (GRCm39)	W509R	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het

Other mutations in Tmem79

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Tmem79	APN	3	88,239,883 (GRCm39)	missense	possibly damaging	0.82
IGL02680:Tmem79	APN	3	88,240,270 (GRCm39)	missense	probably damaging	1.00
snickerdoodle	UTSW	3	88,239,870 (GRCm39)	missense	probably damaging	1.00
R0239:Tmem79	UTSW	3	88,240,628 (GRCm39)	missense	probably benign
R0239:Tmem79	UTSW	3	88,240,628 (GRCm39)	missense	probably benign
R0656:Tmem79	UTSW	3	88,240,241 (GRCm39)	missense	probably damaging	1.00
R4663:Tmem79	UTSW	3	88,240,751 (GRCm39)	missense	probably damaging	0.98
R5168:Tmem79	UTSW	3	88,240,651 (GRCm39)	missense	probably damaging	0.99
R5583:Tmem79	UTSW	3	88,239,870 (GRCm39)	missense	probably damaging	1.00
R7305:Tmem79	UTSW	3	88,240,718 (GRCm39)	missense	probably benign	0.00
R7630:Tmem79	UTSW	3	88,240,768 (GRCm39)	missense	possibly damaging	0.54
R7687:Tmem79	UTSW	3	88,239,888 (GRCm39)	missense	probably damaging	1.00
R7788:Tmem79	UTSW	3	88,239,949 (GRCm39)	missense	probably benign	0.03
R9192:Tmem79	UTSW	3	88,240,764 (GRCm39)	missense	probably benign	0.00
R9781:Tmem79	UTSW	3	88,239,931 (GRCm39)	missense	possibly damaging	0.94

Posted On

2014-05-07