Mutagenetix > Incidental Mutation

Incidental Mutation 'R2217:Tmem59l'

241214

Institutional Source

Beutler Lab

Gene Symbol

Tmem59l

Ensembl Gene

ENSMUSG00000035964

Gene Name

transmembrane protein 59-like

Synonyms

MMRRC Submission

040219-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2217 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

70483867-70487358 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70487301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 6 (L6S)

Ref Sequence

ENSEMBL: ENSMUSP00000043659 (fasta)

Gene Model

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

AlphaFold

Q7TNI2

Predicted Effect

unknown
Transcript: ENSMUST00000045286
AA Change: L6S

SMART Domains

Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: L6S

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 111,982,496	K232E	probably benign	Het
Apba1	T	C	19: 23,893,962	M386T	probably damaging	Het
Appl2	G	T	10: 83,608,737	F472L	possibly damaging	Het
Atxn2	T	C	5: 121,803,077	Y56H	probably damaging	Het
Cacna1c	T	C	6: 118,670,407	Y809C	probably damaging	Het
Canx	C	T	11: 50,310,867	V59I	probably benign	Het
Catsperb	T	C	12: 101,594,219	L823P	probably damaging	Het
Crb3	T	C	17: 57,065,090	S46P	probably benign	Het
Daam1	G	A	12: 71,989,827	R1058H	probably damaging	Het
Ehd1	T	A	19: 6,298,472	D493E	probably damaging	Het
Eml6	T	A	11: 29,818,907	Q746L	probably damaging	Het
Epg5	T	A	18: 77,949,072	M328K	probably benign	Het
Flt4	T	A	11: 49,624,728	S48T	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm7535	A	G	17: 17,911,674		probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Hmcn2	A	T	2: 31,350,574	T494S	probably benign	Het
Hydin	G	A	8: 110,418,506	V830I	probably benign	Het
Map3k6	T	A	4: 133,246,672	H487Q	possibly damaging	Het
Myh14	G	A	7: 44,634,376	P735S	probably damaging	Het
Nfkb2	T	C	19: 46,307,724		probably null	Het
Nlrp4c	T	C	7: 6,073,114	V671A	probably benign	Het
Nsrp1	A	T	11: 77,045,761	Y536*	probably null	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Pak7	A	G	2: 136,116,203	S322P	probably damaging	Het
Pank2	A	G	2: 131,282,681		probably null	Het
Phf6	A	T	X: 52,942,648	I272F	probably damaging	Het
Plxna2	T	C	1: 194,797,748	L1409P	probably damaging	Het
Polr2a	A	G	11: 69,742,685		probably null	Het
Pp2d1	C	A	17: 53,515,454	V195L	probably benign	Het
Psma1	C	T	7: 114,264,938	E227K	unknown	Het
Ptger1	C	T	8: 83,668,728	T278I	probably benign	Het
Slc20a2	C	A	8: 22,560,516	S250R	probably benign	Het
Slc27a2	A	G	2: 126,567,752	T285A	probably damaging	Het
Slc47a2	T	C	11: 61,313,671	T285A	probably benign	Het
Slf1	T	A	13: 77,046,706		probably null	Het
Tiam2	A	G	17: 3,415,114	T373A	probably benign	Het
Timd2	T	A	11: 46,687,017	I96L	probably damaging	Het
Tmem64	T	C	4: 15,266,658	I236T	possibly damaging	Het
Trpm2	T	A	10: 77,941,182	D427V	probably damaging	Het
Vax2	A	T	6: 83,737,889	Y262F	probably damaging	Het
Virma	T	C	4: 11,544,924	S1628P	probably damaging	Het
Zan	C	A	5: 137,410,306		probably benign	Het
Zbtb22	T	G	17: 33,917,965	D361E	probably damaging	Het
Zfp27	A	G	7: 29,896,111	L143P	possibly damaging	Het

Other mutations in Tmem59l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00903:Tmem59l	APN	8	70485665	splice site	probably benign
IGL01479:Tmem59l	APN	8	70486098	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCCATCTGAGGGTCCTACAC -3'
(R):5'- GATCCAAGTCCGGTCAAAGAGC -3'

Sequencing Primer
(F):5'- AGGGTCCTACACTCAGGTC -3'
(R):5'- TCAGTGACGTCAACACC -3'

Posted On

2014-10-15