Mutagenetix > Incidental Mutation

Incidental Mutation 'RF041:Tmem59'

604812

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

Accession Numbers

Essential gene?

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

Stock #

RF041 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

107035827-107058193 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to TGTTTGTTG at 107047729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	TGAGGA	TGA	12: 72,928,050 (GRCm39)		probably benign	Het
5430401F13Rik	AAAGGTGGC	AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC	6: 131,529,855 (GRCm39)		probably benign	Het
5430401F13Rik	CCAGCAAAAACAGAAAGGAAAAGG	CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG	6: 131,529,836 (GRCm39)		probably benign	Het
5430401F13Rik	AGGTGGCCAG	AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,857 (GRCm39)		probably benign	Het
Abcf1	CTCTTC	CTC	17: 36,274,093 (GRCm39)		probably benign	Het
Acap3	GGCTGC	GGCTGCGGCATCCTGTGCTGC	4: 155,989,557 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,257 (GRCm39)		probably benign	Het
Arid1b	CGG	CGGTGG	17: 5,045,870 (GRCm39)		probably benign	Het
AY761185	CACTGTGGG	C	8: 21,433,928 (GRCm39)		probably null	Het
Btnl1	C	T	17: 34,600,342 (GRCm39)	T246M	probably benign	Het
Cdc40	C	T	10: 40,719,119 (GRCm39)	D337N	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cul9	CCT	CCTACT	17: 46,811,780 (GRCm39)		probably null	Het
Defb22	GCTGGCCTTTGC	GCTGGCCTTTGCCGCAGACCTGGCCTTTGC	2: 152,327,743 (GRCm39)		probably benign	Het
Dmkn	GGGGTGGAAG	GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG	7: 30,466,598 (GRCm39)		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT	17: 23,981,135 (GRCm39)		probably null	Het
Flywch1	GT	GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT	17: 23,981,151 (GRCm39)		probably null	Het
Gabre	CTCCGG	CTCCGGATCCGG	X: 71,313,655 (GRCm39)		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,489,122 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Il2	GG	GGGCTTGAAGTGCG	3: 37,179,991 (GRCm39)		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT	9: 106,447,812 (GRCm39)		probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,089,662 (GRCm39)		probably benign	Het
Kmt2c	TG	TGTTGCAG	5: 25,520,773 (GRCm39)		probably benign	Het
Lce1m	CTGCTGCTGCC	CTGCTGCTGCCCTTGCTGCTGCC	3: 92,925,448 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,435 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,432 (GRCm39)		probably benign	Het
Med12l	AGC	AGCTGC	3: 59,183,406 (GRCm39)		probably benign	Het
Med12l	GC	GCACC	3: 59,183,416 (GRCm39)		probably benign	Het
Nefh	CCTCACCTGGGG	CCTCACCTGGGGCCTTGGGCTCACCTGGGG	11: 4,891,039 (GRCm39)		probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)		probably null	Het
Ngfr	CAGG	C	11: 95,478,337 (GRCm39)		probably benign	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,458,060 (GRCm39)		probably benign	Het
Nusap1	GTGAGGAGCAAGCTGA	GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA	2: 119,458,074 (GRCm39)		probably benign	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,458,088 (GRCm39)		probably null	Het
Phc1	TG	TGCTGCGG	6: 122,300,559 (GRCm39)		probably benign	Het
Pnma8a	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,695,369 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Setd1a	GGTGGTGGT	GGTGGTGGTCGTGGTGGT	7: 127,384,504 (GRCm39)		probably benign	Het
Sfr1	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	19: 47,721,307 (GRCm39)		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,499,066 (GRCm39)		probably benign	Het
Smarca2	AGC	AGCCCCTGC	19: 26,608,421 (GRCm39)		probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC	18: 60,966,644 (GRCm39)		probably benign	Het
Tcof1	CCCCTTG	CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG	18: 60,966,648 (GRCm39)		probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,025 (GRCm39)		probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,197,771 (GRCm39)		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	4: 43,177,338 (GRCm39)		probably benign	Het
Usp19	GTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGT	9: 108,371,187 (GRCm39)		unknown	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
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
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'- AGCCAACATCCAGGGTACTC -3'
(R):5'- TGCCAAGACCCTCATGTAAG -3'

Sequencing Primer
(F):5'- TCCAGGGTACTCAAATTCACC -3'
(R):5'- GTAAGACATGACATTGACTATTGCTG -3'

Posted On

2019-12-04