Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01479:Tmem59l'

88539

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem59l

Ensembl Gene

ENSMUSG00000035964

Gene Name

transmembrane protein 59-like

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01479

Quality Score

Status

Chromosome

Chromosomal Location

70483867-70487358 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70486098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 111 (R111Q)

Ref Sequence

ENSEMBL: ENSMUSP00000043659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045286]

AlphaFold

Q7TNI2

Predicted Effect

probably benign
Transcript: ENSMUST00000045286
AA Change: R111Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: R111Q

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	33	41	N/A	INTRINSIC
low complexity region	44	60	N/A	INTRINSIC
Pfam:BSMAP	72	278	1e-67	PFAM
low complexity region	311	319	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211264

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,272,935	K225R	probably benign	Het
Amn	C	A	12: 111,271,793	A47E	probably damaging	Het
Arhgef1	T	C	7: 24,912,603	I137T	probably benign	Het
Cep57l1	T	C	10: 41,728,639	K165E	possibly damaging	Het
Chfr	A	G	5: 110,144,993		probably benign	Het
Dnah9	A	G	11: 65,955,717	V2923A	probably benign	Het
Dnaja2	T	C	8: 85,553,951	Y35C	probably damaging	Het
Dnajc2	T	C	5: 21,757,893	T481A	probably damaging	Het
Foxred2	A	G	15: 77,952,289		probably null	Het
Gin1	C	T	1: 97,792,372	T364I	possibly damaging	Het
Glt8d2	C	T	10: 82,660,736	V163I	probably damaging	Het
Gm10118	T	C	10: 63,926,820		probably benign	Het
Hps5	C	T	7: 46,762,942		probably null	Het
Kdm4c	A	G	4: 74,343,501	K638E	probably benign	Het
L3mbtl2	A	G	15: 81,676,392	T285A	probably benign	Het
Mab21l1	A	G	3: 55,783,832	Y280C	probably damaging	Het
Mcoln2	T	A	3: 146,175,652		probably benign	Het
Myo9b	G	T	8: 71,359,342	R1926L	probably damaging	Het
Rrp12	A	G	19: 41,865,202	V1251A	probably benign	Het
Rtn4rl1	A	G	11: 75,265,342	D200G	probably damaging	Het
Sbsn	G	A	7: 30,752,357	A266T	possibly damaging	Het
Sgca	A	T	11: 94,963,378	C335*	probably null	Het
Spag1	T	C	15: 36,233,199		probably benign	Het
Sult6b1	A	T	17: 78,905,576	V82D	probably benign	Het
Tigit	T	C	16: 43,659,522	T137A	probably benign	Het
Tmem125	G	A	4: 118,541,623	Q204*	probably null	Het
Vmn2r95	G	A	17: 18,443,862	G448R	probably damaging	Het
Zfp64	T	C	2: 168,951,679	H49R	probably damaging	Het

Other mutations in Tmem59l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00903:Tmem59l	APN	8	70485665	splice site	probably benign
IGL01783:Tmem59l	APN	8	70487224	missense	probably damaging	1.00
IGL01998:Tmem59l	APN	8	70484781	missense	probably benign	0.16
R0973:Tmem59l	UTSW	8	70486060	missense	possibly damaging	0.93
R0973:Tmem59l	UTSW	8	70486060	missense	possibly damaging	0.93
R0974:Tmem59l	UTSW	8	70486060	missense	possibly damaging	0.93
R1201:Tmem59l	UTSW	8	70484387	nonsense	probably null
R1540:Tmem59l	UTSW	8	70485154	missense	probably benign	0.05
R1775:Tmem59l	UTSW	8	70486253	missense	probably damaging	1.00
R2217:Tmem59l	UTSW	8	70487301	missense	unknown
R2238:Tmem59l	UTSW	8	70485122	missense	probably damaging	0.99
R2313:Tmem59l	UTSW	8	70487301	missense	unknown
R2315:Tmem59l	UTSW	8	70487301	missense	unknown
R2969:Tmem59l	UTSW	8	70487301	missense	unknown
R2970:Tmem59l	UTSW	8	70487301	missense	unknown
R3011:Tmem59l	UTSW	8	70486237	missense	probably damaging	1.00
R3725:Tmem59l	UTSW	8	70487301	missense	unknown
R3726:Tmem59l	UTSW	8	70487301	missense	unknown
R3774:Tmem59l	UTSW	8	70487301	missense	unknown
R3775:Tmem59l	UTSW	8	70487301	missense	unknown
R3826:Tmem59l	UTSW	8	70487301	missense	unknown
R3827:Tmem59l	UTSW	8	70487301	missense	unknown
R3828:Tmem59l	UTSW	8	70487301	missense	unknown
R3829:Tmem59l	UTSW	8	70487301	missense	unknown
R3851:Tmem59l	UTSW	8	70487301	missense	unknown
R3943:Tmem59l	UTSW	8	70487301	missense	unknown
R3944:Tmem59l	UTSW	8	70487301	missense	unknown
R4064:Tmem59l	UTSW	8	70485719	missense	probably damaging	1.00
R4409:Tmem59l	UTSW	8	70487301	missense	unknown
R4410:Tmem59l	UTSW	8	70487301	missense	unknown
R4422:Tmem59l	UTSW	8	70486099	missense	probably damaging	0.98
R4470:Tmem59l	UTSW	8	70487301	missense	unknown
R4471:Tmem59l	UTSW	8	70487301	missense	unknown
R4767:Tmem59l	UTSW	8	70486098	missense	probably benign	0.00
R5321:Tmem59l	UTSW	8	70487215	missense	probably damaging	1.00
R6130:Tmem59l	UTSW	8	70484605	missense	probably damaging	1.00
R6527:Tmem59l	UTSW	8	70486125	missense	probably damaging	1.00
R6603:Tmem59l	UTSW	8	70486356	missense	probably benign	0.31
R6750:Tmem59l	UTSW	8	70486372	missense	probably benign	0.34
R7542:Tmem59l	UTSW	8	70485164	missense	possibly damaging	0.56
R8265:Tmem59l	UTSW	8	70485776	missense	probably damaging	0.99
R9320:Tmem59l	UTSW	8	70485172	missense	possibly damaging	0.74

Posted On

2013-11-18