Mutagenetix > Incidental Mutation

Incidental Mutation 'R4622:Tmem59'

346220

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

041887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R4622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107035827-107058193 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 107047915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119701 (fasta)

Gene Model

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

AlphaFold

Q9QY73

Predicted Effect

probably benign
Transcript: ENSMUST00000030361

SMART Domains

Protein: ENSMUSP00000030361
Gene: ENSMUSG00000028618

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

SMART Domains

Protein: ENSMUSP00000102364
Gene: ENSMUSG00000028618

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127652

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

noncoding transcript
Transcript: ENSMUST00000141013

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (107/109)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,914,474 (GRCm39)	N26Y	probably damaging	Het
Aass	C	T	6: 23,092,329 (GRCm39)	D194N	probably damaging	Het
Acp7	T	C	7: 28,313,822 (GRCm39)	Y404C	probably damaging	Het
Acsl1	A	T	8: 46,979,410 (GRCm39)	I421L	probably benign	Het
Adgrb3	A	T	1: 25,865,569 (GRCm39)	D91E	probably damaging	Het
Adgrg3	T	C	8: 95,767,153 (GRCm39)	S503P	probably damaging	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Arhgap32	A	T	9: 32,150,644 (GRCm39)	I15F	possibly damaging	Het
Arid1b	G	T	17: 5,045,325 (GRCm39)		probably benign	Het
Asnsd1	A	G	1: 53,387,378 (GRCm39)	V83A	probably benign	Het
Atg101	A	G	15: 101,191,213 (GRCm39)		probably benign	Het
Atp8a1	T	C	5: 67,840,056 (GRCm39)		probably benign	Het
Aurkb	T	A	11: 68,939,188 (GRCm39)	L137Q	probably damaging	Het
AY702103	A	T	17: 50,547,029 (GRCm39)		noncoding transcript	Het
B3gnt9	A	G	8: 105,980,477 (GRCm39)	S304P	probably benign	Het
Babam2	T	C	5: 32,164,656 (GRCm39)	V310A	probably damaging	Het
Batf	A	G	12: 85,755,327 (GRCm39)	D60G	possibly damaging	Het
Baz1a	A	T	12: 54,988,300 (GRCm39)	I283K	probably benign	Het
Bmerb1	A	C	16: 13,911,786 (GRCm39)	E44A	possibly damaging	Het
Bst1	T	G	5: 43,976,261 (GRCm39)		probably benign	Het
C2	C	A	17: 35,082,650 (GRCm39)	V490L	probably damaging	Het
Cacna1e	T	C	1: 154,347,311 (GRCm39)	E952G	possibly damaging	Het
Ccnyl1	A	G	1: 64,757,417 (GRCm39)	D262G	probably damaging	Het
Cdc42bpa	A	T	1: 179,902,223 (GRCm39)	K493N	probably damaging	Het
Cenpe	A	G	3: 134,949,469 (GRCm39)	T85A	probably benign	Het
Ces2e	T	A	8: 105,655,341 (GRCm39)		probably null	Het
Chd3	T	A	11: 69,239,834 (GRCm39)	R1665W	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cspg4b	A	G	13: 113,456,615 (GRCm39)	D887G	probably benign	Het
Ctnnd2	A	T	15: 30,887,315 (GRCm39)	M781L	probably benign	Het
Ctnnd2	A	G	15: 31,009,259 (GRCm39)	T1094A	probably benign	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Ddx54	G	A	5: 120,764,488 (GRCm39)	V732M	probably damaging	Het
Ecrg4	G	T	1: 43,781,481 (GRCm39)	R121L	possibly damaging	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Eva1c	T	A	16: 90,694,343 (GRCm39)		probably null	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
Fasl	A	G	1: 161,614,703 (GRCm39)	L120P	probably benign	Het
H2-M9	A	T	17: 36,952,716 (GRCm39)		probably null	Het
Hdgf	C	A	3: 87,821,884 (GRCm39)	N198K	possibly damaging	Het
Hspa9	A	T	18: 35,082,090 (GRCm39)	M172K	possibly damaging	Het
Il1r1	A	C	1: 40,351,580 (GRCm39)	L406F	probably damaging	Het
Il31	T	C	5: 123,618,498 (GRCm39)	D96G	probably damaging	Het
Inhbc	A	G	10: 127,193,146 (GRCm39)	I290T	probably benign	Het
Lrp2	A	T	2: 69,290,693 (GRCm39)	V3589D	possibly damaging	Het
Lrrc14	A	T	15: 76,600,540 (GRCm39)		probably benign	Het
Lyst	G	A	13: 13,848,983 (GRCm39)	A2057T	probably benign	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mapk10	C	A	5: 103,137,590 (GRCm39)	G209V	probably damaging	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Met	G	T	6: 17,513,383 (GRCm39)	R411L	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl4	G	A	9: 20,918,793 (GRCm39)	R176Q	probably damaging	Het
Mrtfb	G	A	16: 13,150,570 (GRCm39)	G102D	probably damaging	Het
Mtmr3	T	C	11: 4,441,067 (GRCm39)	T528A	possibly damaging	Het
Mtmr7	A	T	8: 41,034,583 (GRCm39)	N246K	probably damaging	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Necab3	A	G	2: 154,397,502 (GRCm39)		probably null	Het
Nr1d1	C	T	11: 98,660,710 (GRCm39)	C419Y	probably damaging	Het
Nwd1	C	A	8: 73,393,928 (GRCm39)	A397E	probably damaging	Het
Oas1f	A	T	5: 120,986,390 (GRCm39)	K114N	probably damaging	Het
Or13a18	T	A	7: 140,190,611 (GRCm39)	C169*	probably null	Het
Or1e35	C	A	11: 73,797,737 (GRCm39)	V194F	possibly damaging	Het
Or51ab3	G	T	7: 103,201,361 (GRCm39)	R123L	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or5w13	T	A	2: 87,523,987 (GRCm39)	K80*	probably null	Het
Osbpl8	T	C	10: 111,127,357 (GRCm39)	S814P	probably benign	Het
Pcdhgb7	A	T	18: 37,886,183 (GRCm39)	Q451L	probably benign	Het
Pde7b	C	T	10: 20,294,538 (GRCm39)	R300Q	probably damaging	Het
Pgghg	A	G	7: 140,521,409 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,589,688 (GRCm39)		probably benign	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppt2	A	G	17: 34,844,875 (GRCm39)	V123A	probably benign	Het
Prdx5	G	T	19: 6,884,341 (GRCm39)		probably benign	Het
Prpf40b	A	G	15: 99,214,197 (GRCm39)	D819G	probably benign	Het
Prss3l	A	T	6: 41,422,246 (GRCm39)	I53N	probably damaging	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Rab3gap1	T	C	1: 127,870,156 (GRCm39)	C919R	probably benign	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rec8	C	T	14: 55,862,215 (GRCm39)	R480C	probably damaging	Het
Reg3d	A	G	6: 78,354,442 (GRCm39)	L53S	probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Scn2a	T	C	2: 65,582,371 (GRCm39)	V1573A	probably benign	Het
Selenoo	G	T	15: 88,979,910 (GRCm39)	G353*	probably null	Het
Siva1	A	G	12: 112,611,501 (GRCm39)	Y34C	probably damaging	Het
Slc2a4	C	T	11: 69,835,600 (GRCm39)		probably benign	Het
Slc39a12	A	T	2: 14,405,136 (GRCm39)	T243S	probably benign	Het
Slc9b2	T	C	3: 135,038,279 (GRCm39)	I453T	probably damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Tbc1d24	A	T	17: 24,427,865 (GRCm39)	D32E	probably benign	Het
Tet1	T	A	10: 62,655,253 (GRCm39)	H1556L	possibly damaging	Het
Ttn	A	T	2: 76,731,296 (GRCm39)		probably benign	Het
Uimc1	A	T	13: 55,225,307 (GRCm39)	L89H	probably damaging	Het
Vipas39	A	G	12: 87,291,317 (GRCm39)	I343T	probably damaging	Het
Vmn2r71	G	T	7: 85,269,817 (GRCm39)	V443L	probably benign	Het
Zbtb14	G	A	17: 69,695,342 (GRCm39)	D347N	possibly damaging	Het
Zfp980	G	T	4: 145,428,627 (GRCm39)	C452F	probably damaging	Het
Zmym5	T	A	14: 57,049,693 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,883,673 (GRCm39)	T145A	possibly damaging	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
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
R9727:Tmem59	UTSW	4	107,050,547 (GRCm39)	missense	probably benign	0.01
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'- TCCAGGAAGATTTGTTCTCTTGC -3'
(R):5'- TTGAGGTAATGCTTTCAAGGGAAG -3'

Sequencing Primer
(F):5'- TCATGTCCCTGATGCCAAGAATG -3'
(R):5'- GAAGCAAAGGTGGTAAATTACACTG -3'

Posted On

2015-09-25