Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Tmem79'

593136

Institutional Source

Beutler Lab

Gene Symbol

Tmem79

Ensembl Gene

ENSMUSG00000001420

Gene Name

transmembrane protein 79

Synonyms

mattrin, 2310074C17Rik, ma, 2310042N02Rik, Matt

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88328655-88336148 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88332581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 274 (V274A)

Ref Sequence

ENSEMBL: ENSMUSP00000001456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001451] [ENSMUST00000001454] [ENSMUST00000001456] [ENSMUST00000107552] [ENSMUST00000107553] [ENSMUST00000154381] [ENSMUST00000176425] [ENSMUST00000176519] [ENSMUST00000177005] [ENSMUST00000193872]

AlphaFold

Q9D709

Predicted Effect

probably benign
Transcript: ENSMUST00000001451

SMART Domains

Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
Pfam:EST1	77	189	1.1e-26	PFAM
Pfam:EST1_DNA_bind	197	427	4.6e-53	PFAM
low complexity region	447	468	N/A	INTRINSIC
low complexity region	481	501	N/A	INTRINSIC
Pfam:EST1_DNA_bind	611	745	3.7e-9	PFAM
coiled coil region	801	842	N/A	INTRINSIC
PINc	856	979	3.23e-15	SMART
low complexity region	990	999	N/A	INTRINSIC

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: V274A

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

SMART Domains

Protein: ENSMUSP00000001456
Gene: ENSMUSG00000001420
AA Change: V274A

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: V274A

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

SMART Domains

Protein: ENSMUSP00000103176
Gene: ENSMUSG00000001420
AA Change: V274A

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: V274A

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

SMART Domains

Protein: ENSMUSP00000103177
Gene: ENSMUSG00000001420
AA Change: V274A

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: ENSMUST00000154381

SMART Domains

Protein: ENSMUSP00000134809
Gene: ENSMUSG00000001418

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,258,182 (GRCm38)	K2383R	probably benign	Het
Acly	C	T	11: 100,504,854 (GRCm38)		probably null	Het
Baiap3	T	A	17: 25,249,337 (GRCm38)	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,209,193 (GRCm38)	D419E	probably benign	Het
Celsr2	G	T	3: 108,397,769 (GRCm38)	P2165T	probably benign	Het
Clk4	A	G	11: 51,281,398 (GRCm38)	D476G	probably benign	Het
Dera	A	G	6: 137,836,880 (GRCm38)	T10A		Het
Dip2c	A	T	13: 9,604,581 (GRCm38)	T742S	probably benign	Het
Dohh	C	A	10: 81,387,806 (GRCm38)	A231E	probably benign	Het
Dot1l	T	G	10: 80,789,368 (GRCm38)	S1150A	possibly damaging	Het
Eea1	T	A	10: 96,026,598 (GRCm38)	I794N	probably benign	Het
En2	T	C	5: 28,170,289 (GRCm38)	S277P	probably damaging	Het
Erich1	A	G	8: 14,030,691 (GRCm38)	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224 (GRCm38)	N1779S	probably damaging	Het
Frzb	T	A	2: 80,424,635 (GRCm38)	T186S	probably benign	Het
Gdf7	T	A	12: 8,298,257 (GRCm38)	R347*	probably null	Het
Ighv9-4	T	C	12: 114,300,263 (GRCm38)	I17V	not run	Het
Ipo13	G	A	4: 117,911,891 (GRCm38)	P235S	probably benign	Het
Itga2	C	A	13: 114,866,260 (GRCm38)	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,458,609 (GRCm38)		probably benign	Het
Kcnk10	A	G	12: 98,435,096 (GRCm38)	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,599,492 (GRCm38)	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,862,120 (GRCm38)	D1086N	unknown	Het
Kntc1	A	G	5: 123,759,089 (GRCm38)	I172V	probably benign	Het
Maip1	A	G	1: 57,411,844 (GRCm38)	E215G	probably damaging	Het
Mms19	A	T	19: 41,955,168 (GRCm38)	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,743,183 (GRCm38)	V185A	probably damaging	Het
Naa11	A	T	5: 97,391,789 (GRCm38)	V170E	probably benign	Het
Ncapg	C	T	5: 45,699,885 (GRCm38)	P980S	probably benign	Het
Or2aj5	T	C	16: 19,605,735 (GRCm38)	N310S	probably benign	Het
Pbxip1	A	G	3: 89,448,199 (GRCm38)	D675G	probably damaging	Het
Pdlim5	A	G	3: 142,277,847 (GRCm38)	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,854,390 (GRCm38)	I2184F		Het
Plau	A	G	14: 20,839,798 (GRCm38)	Y237C	probably damaging	Het
Ppl	T	C	16: 5,097,942 (GRCm38)	T586A	probably benign	Het
Rapgef6	T	G	11: 54,661,075 (GRCm38)	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,306,494 (GRCm38)	G17D	unknown	Het
Sema3b	T	C	9: 107,603,814 (GRCm38)	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,656,266 (GRCm38)	I297T	probably damaging	Het
Slit1	A	G	19: 41,650,689 (GRCm38)	F261L	probably benign	Het
Tcp10a	T	A	17: 7,345,108 (GRCm38)	V433D	probably damaging	Het
Tktl2	A	G	8: 66,513,101 (GRCm38)	E437G	probably damaging	Het
Tll1	G	T	8: 64,121,492 (GRCm38)	Y109*	probably null	Het
Tnfrsf23	G	A	7: 143,681,462 (GRCm38)	S55L	probably benign	Het
Ubd	T	C	17: 37,193,974 (GRCm38)		probably null	Het
Ubl3	C	A	5: 148,506,175 (GRCm38)	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,914,584 (GRCm38)	D72V	probably damaging	Het
Wdr55	T	C	18: 36,762,023 (GRCm38)	S81P	probably damaging	Het
Wtip	T	C	7: 34,116,619 (GRCm38)	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,970,400 (GRCm38)	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,499,862 (GRCm38)	S36A	probably benign	Het

Other mutations in Tmem79

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Tmem79	APN	3	88,332,576 (GRCm38)	missense	possibly damaging	0.82
IGL01883:Tmem79	APN	3	88,329,838 (GRCm38)	missense	probably damaging	1.00
IGL02680:Tmem79	APN	3	88,332,963 (GRCm38)	missense	probably damaging	1.00
snickerdoodle	UTSW	3	88,332,563 (GRCm38)	missense	probably damaging	1.00
R0239:Tmem79	UTSW	3	88,333,321 (GRCm38)	missense	probably benign
R0239:Tmem79	UTSW	3	88,333,321 (GRCm38)	missense	probably benign
R0656:Tmem79	UTSW	3	88,332,934 (GRCm38)	missense	probably damaging	1.00
R4663:Tmem79	UTSW	3	88,333,444 (GRCm38)	missense	probably damaging	0.98
R5168:Tmem79	UTSW	3	88,333,344 (GRCm38)	missense	probably damaging	0.99
R5583:Tmem79	UTSW	3	88,332,563 (GRCm38)	missense	probably damaging	1.00
R7305:Tmem79	UTSW	3	88,333,411 (GRCm38)	missense	probably benign	0.00
R7630:Tmem79	UTSW	3	88,333,461 (GRCm38)	missense	possibly damaging	0.54
R7788:Tmem79	UTSW	3	88,332,642 (GRCm38)	missense	probably benign	0.03
R9192:Tmem79	UTSW	3	88,333,457 (GRCm38)	missense	probably benign	0.00
R9781:Tmem79	UTSW	3	88,332,624 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GGTTTGCAGACCTTCAGCTC -3'
(R):5'- GAGCTCTTGTGTCCACTCTG -3'

Sequencing Primer
(F):5'- CTCCCTGGAGGATCTGGAATCATG -3'
(R):5'- ACTCTGTAGCCCCGACC -3'

Posted On

2019-11-12