Mutagenetix > Incidental Mutation

Incidental Mutation 'R3828:Tmem59l'

273850

Institutional Source

Beutler Lab

Gene Symbol

Tmem59l

Ensembl Gene

ENSMUSG00000035964

Gene Name

transmembrane protein 59-like

Synonyms

MMRRC Submission

040886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R3828 (G1)

Quality Score

159

Status

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (34/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Camk2b	A	G	11: 6,028,932	V32A	probably damaging	Het
Cbr2	A	T	11: 120,730,452	H140Q	probably benign	Het
Cdk19	T	C	10: 40,475,613	V258A	probably damaging	Het
Cep104	T	G	4: 153,984,943	M207R	probably damaging	Het
Chd2	A	G	7: 73,491,415	Y577H	possibly damaging	Het
Col4a1	C	A	8: 11,209,650	G1341V	probably damaging	Het
Commd9	C	A	2: 101,897,141	N93K	probably benign	Het
Cx3cl1	A	T	8: 94,777,306		probably benign	Het
Cxcr6	A	T	9: 123,810,869	M319L	probably benign	Het
Dlg5	T	A	14: 24,146,158	K1308I	probably damaging	Het
Dnah17	G	A	11: 118,041,158		probably benign	Het
Ffar2	A	T	7: 30,820,085	I10N	possibly damaging	Het
Gm17521	C	A	X: 123,029,225	G149C	unknown	Het
Gm5862	T	G	5: 26,019,347	H208P	probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Ino80d	A	T	1: 63,062,078	M463K	possibly damaging	Het
Lrp2	G	A	2: 69,426,012	P4595S	probably benign	Het
Mark4	A	G	7: 19,443,187	I239T	possibly damaging	Het
Mcoln1	C	T	8: 3,500,601	A2V	possibly damaging	Het
Mcts1	T	C	X: 38,602,568		probably benign	Het
Mrgprb5	T	A	7: 48,168,091	M299L	probably benign	Het
Ncapg2	A	T	12: 116,407,318		probably benign	Het
Olfr679	A	G	7: 105,086,297	N194D	probably benign	Het
Pcdhga4	G	T	18: 37,687,601	L734F	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Rsg1	C	T	4: 141,218,589	R148C	probably damaging	Het
Rsph6a	T	C	7: 19,057,614	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,997,626		probably null	Het
Stk11	T	C	10: 80,127,948		probably null	Het
Syt14	T	C	1: 192,901,775	N444S	probably damaging	Het
Tnks	A	G	8: 34,873,178	F429L	probably damaging	Het
Usp15	T	A	10: 123,196,870	I16F	possibly damaging	Het
Vps50	T	C	6: 3,533,500	I244T	probably benign	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
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
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'- TCCAAGTCCGGTCAAAGAGC -3'

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

Posted On

2015-04-02