Mutagenetix > Incidental Mutation

Incidental Mutation 'R9727:Tmem59'

731088

Institutional Source

Beutler Lab

Gene Symbol

Tmem59

Ensembl Gene

ENSMUSG00000028618

Gene Name

transmembrane protein 59

Synonyms

1110001M20Rik, 3110046P06Rik, D4Ertd20e, MTDCF1, thymic dendritic cell-derived factor 1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R9727 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107035827-107058193 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107050547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 226 (E226G)

Ref Sequence

ENSEMBL: ENSMUSP00000030361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030361] [ENSMUST00000106753] [ENSMUST00000128123] [ENSMUST00000154007]

AlphaFold

Q9QY73

Predicted Effect

probably benign
Transcript: ENSMUST00000030361
AA Change: E226G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030361
Gene: ENSMUSG00000028618
AA Change: E226G

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:BSMAP	72	256	1.1e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106753
AA Change: E159G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102364
Gene: ENSMUSG00000028618
AA Change: E159G

Domain	Start	End	E-Value	Type
Pfam:BSMAP	32	189	2.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128123

SMART Domains

Protein: ENSMUSP00000120288
Gene: ENSMUSG00000028618

Domain	Start	End	E-Value	Type
Pfam:BSMAP	18	127	1.7e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154007

SMART Domains

Protein: ENSMUSP00000119701
Gene: ENSMUSG00000028618

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele display reduced dendritic arborization, reduced miniature excitatory postsynaptic currents, and impaired memory formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin2	A	G	4: 34,565,248 (GRCm39)	Y165C	probably damaging	Het
Aox4	A	G	1: 58,286,473 (GRCm39)	I702V	probably benign	Het
Arhgef33	A	G	17: 80,678,720 (GRCm39)	Y472C	probably damaging	Het
Atp13a4	T	G	16: 29,228,589 (GRCm39)	S964R		Het
Atp1a2	T	A	1: 172,118,936 (GRCm39)	I69F	probably benign	Het
Bub1	T	C	2: 127,652,609 (GRCm39)	D586G	possibly damaging	Het
Ccdc177	C	A	12: 80,806,044 (GRCm39)	A77S	probably benign	Het
Ccdc187	A	G	2: 26,171,204 (GRCm39)	W425R	probably damaging	Het
Ccn2	A	G	10: 24,471,820 (GRCm39)	E37G	probably benign	Het
Ccsap	T	C	8: 124,572,169 (GRCm39)	D111G	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Ceacam3	C	A	7: 16,892,262 (GRCm39)	T335K		Het
Col22a1	A	T	15: 71,849,123 (GRCm39)	W322R	probably damaging	Het
Col5a2	A	G	1: 45,415,818 (GRCm39)	V1443A	possibly damaging	Het
Dnah12	C	T	14: 26,523,510 (GRCm39)	Q2000*	probably null	Het
Dock7	G	T	4: 98,875,568 (GRCm39)	T1154K	unknown	Het
Dot1l	T	C	10: 80,628,382 (GRCm39)	L1140P	unknown	Het
Dst	G	A	1: 34,314,877 (GRCm39)	V4489M	probably damaging	Het
Duox2	G	A	2: 122,116,998 (GRCm39)	R960*	probably null	Het
Elavl2	T	C	4: 91,169,495 (GRCm39)	I97V	probably benign	Het
Emp1	G	T	6: 135,358,016 (GRCm39)	A121S	probably benign	Het
Exph5	A	T	9: 53,287,702 (GRCm39)	R1594S	probably damaging	Het
Fam186b	C	T	15: 99,171,669 (GRCm39)	M859I	probably benign	Het
Fat2	A	G	11: 55,159,137 (GRCm39)	V3345A	probably damaging	Het
Gtf2f1	A	T	17: 57,318,005 (GRCm39)	N10K	possibly damaging	Het
Hid1	T	G	11: 115,245,939 (GRCm39)	K384N	probably damaging	Het
Hmcn1	T	C	1: 150,674,566 (GRCm39)	R579G	probably benign	Het
Igf1r	T	A	7: 67,857,554 (GRCm39)	V1078D	probably damaging	Het
Il20rb	A	T	9: 100,357,001 (GRCm39)	M43K	probably damaging	Het
Kdm3a	A	T	6: 71,569,094 (GRCm39)	Y1134*	probably null	Het
Kif12	T	A	4: 63,085,978 (GRCm39)	N429I	probably damaging	Het
Kif18a	C	T	2: 109,118,464 (GRCm39)	T93I	probably damaging	Het
Krtap9-5	T	A	11: 99,839,340 (GRCm39)	C14S	possibly damaging	Het
Lgals8	A	T	13: 12,462,038 (GRCm39)	M264K	possibly damaging	Het
Mlxipl	T	A	5: 135,150,388 (GRCm39)	C143*	probably null	Het
Mtcl2	T	A	2: 156,862,168 (GRCm39)	Q1587L	possibly damaging	Het
Mvp	A	T	7: 126,595,040 (GRCm39)	H268Q	probably damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nos2	A	G	11: 78,843,825 (GRCm39)	Y924C	possibly damaging	Het
Or4f52	A	T	2: 111,061,961 (GRCm39)	M59K	probably damaging	Het
Phf20l1	A	G	15: 66,487,231 (GRCm39)	N449S	probably benign	Het
Pot1b	A	C	17: 55,999,795 (GRCm39)	I210S	possibly damaging	Het
Ptrh1	T	A	2: 32,665,854 (GRCm39)	W5R	probably benign	Het
Rasgrp3	A	G	17: 75,810,239 (GRCm39)	H313R	probably damaging	Het
Ric1	A	T	19: 29,575,258 (GRCm39)	I984F	probably damaging	Het
Rin2	G	A	2: 145,702,506 (GRCm39)	A401T	possibly damaging	Het
Rmdn3	C	A	2: 118,968,827 (GRCm39)		probably null	Het
Senp7	A	T	16: 55,990,169 (GRCm39)	H639L	probably benign	Het
Sipa1l1	T	C	12: 82,471,829 (GRCm39)	S1270P	probably damaging	Het
Slc22a28	T	A	19: 8,108,818 (GRCm39)	E108V	probably benign	Het
Slc7a5	A	G	8: 122,613,085 (GRCm39)	I331T	probably benign	Het
Smarca4	T	C	9: 21,611,160 (GRCm39)	Y1467H	probably damaging	Het
Srebf2	T	A	15: 82,076,506 (GRCm39)	F759I	possibly damaging	Het
Thumpd2	A	T	17: 81,345,585 (GRCm39)	D304E	probably damaging	Het
Trpv1	A	C	11: 73,130,347 (GRCm39)	D151A	probably damaging	Het
Txnrd3	A	G	6: 89,651,751 (GRCm39)	D607G	probably benign	Het
Ubr4	T	A	4: 139,140,735 (GRCm39)	V1218E	probably damaging	Het
Ugt2b5	T	A	5: 87,288,165 (GRCm39)	M1L	probably damaging	Het
Vwa5b2	C	T	16: 20,423,477 (GRCm39)	A1130V	probably damaging	Het
Wdr4	T	C	17: 31,718,045 (GRCm39)	E343G	probably benign	Het
Zbtb34	C	A	2: 33,301,533 (GRCm39)	R336L	probably benign	Het
Zfp607b	T	C	7: 27,403,125 (GRCm39)	V527A	probably benign	Het
Zfp949	T	A	9: 88,451,913 (GRCm39)	C494*	probably null	Het

Other mutations in Tmem59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02663:Tmem59	APN	4	107,054,738 (GRCm39)	missense	probably damaging	1.00
IGL02695:Tmem59	APN	4	107,050,511 (GRCm39)	missense	probably benign	0.00
IGL02699:Tmem59	APN	4	107,049,735 (GRCm39)	missense	probably benign	0.01
IGL02937:Tmem59	APN	4	107,054,782 (GRCm39)	missense	probably damaging	1.00
R0945:Tmem59	UTSW	4	107,044,922 (GRCm39)	splice site	probably benign
R2080:Tmem59	UTSW	4	107,035,971 (GRCm39)	missense	probably damaging	0.99
R4621:Tmem59	UTSW	4	107,047,915 (GRCm39)	intron	probably benign
R4622:Tmem59	UTSW	4	107,047,915 (GRCm39)	intron	probably benign
R4623:Tmem59	UTSW	4	107,047,915 (GRCm39)	intron	probably benign
R4819:Tmem59	UTSW	4	107,044,878 (GRCm39)	nonsense	probably null
R5413:Tmem59	UTSW	4	107,057,659 (GRCm39)	missense	probably benign	0.00
R5866:Tmem59	UTSW	4	107,047,754 (GRCm39)	missense	probably damaging	0.99
R6073:Tmem59	UTSW	4	107,050,598 (GRCm39)	splice site	probably null
R8534:Tmem59	UTSW	4	107,043,082 (GRCm39)	critical splice donor site	probably null
RF031:Tmem59	UTSW	4	107,047,729 (GRCm39)	critical splice acceptor site	probably benign
RF033:Tmem59	UTSW	4	107,047,725 (GRCm39)	critical splice acceptor site	probably benign
RF035:Tmem59	UTSW	4	107,047,729 (GRCm39)	critical splice acceptor site	probably benign
RF040:Tmem59	UTSW	4	107,047,723 (GRCm39)	critical splice acceptor site	probably benign
RF041:Tmem59	UTSW	4	107,047,729 (GRCm39)	critical splice acceptor site	probably benign
RF044:Tmem59	UTSW	4	107,047,729 (GRCm39)	critical splice acceptor site	probably benign
RF060:Tmem59	UTSW	4	107,047,723 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGTCCATAATACGGTAGGATGC -3'
(R):5'- ACAGTATCCATTTTACCTTCATCAGAC -3'

Sequencing Primer
(F):5'- CATAATACGGTAGGATGCTTACTTGG -3'
(R):5'- TCCATTTTACCTTCATCAGACTAATC -3'

Posted On

2022-10-06