Mutagenetix > Incidental Mutation

Incidental Mutation 'R3826:Tmem59l'

275410

Institutional Source

Beutler Lab

Gene Symbol

Tmem59l

Ensembl Gene

ENSMUSG00000035964

Gene Name

transmembrane protein 59-like

Synonyms

5330410G16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R3826 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

70936517-70940008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70939951 bp (GRCm39)

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: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,896 (GRCm39)	S197T	possibly damaging	Het
Actl6b	T	C	5: 137,565,535 (GRCm39)	L377P	probably damaging	Het
Apc	C	A	18: 34,412,388 (GRCm39)	Q236K	possibly damaging	Het
Atn1	G	A	6: 124,723,182 (GRCm39)		probably benign	Het
Ccr3	A	G	9: 123,829,714 (GRCm39)	T350A	possibly damaging	Het
Cdc42bpg	T	C	19: 6,367,675 (GRCm39)	V1015A	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col1a2	A	G	6: 4,516,960 (GRCm39)		probably benign	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cx3cl1	A	T	8: 95,503,934 (GRCm39)		probably benign	Het
Dhx37	T	C	5: 125,508,677 (GRCm39)	K86R	probably benign	Het
Dlec1	T	C	9: 118,972,129 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
Fam234a	T	C	17: 26,437,163 (GRCm39)	E172G	probably benign	Het
Ffar2	A	T	7: 30,519,510 (GRCm39)	I10N	possibly damaging	Het
Gas2	T	C	7: 51,586,367 (GRCm39)		probably null	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Grpel1	T	A	5: 36,626,827 (GRCm39)	N36K	probably benign	Het
Hgfac	C	A	5: 35,205,506 (GRCm39)	D595E	probably damaging	Het
Kcnj10	A	T	1: 172,197,616 (GRCm39)	S377C	probably damaging	Het
Kcnq2	C	T	2: 180,746,693 (GRCm39)	V369I	possibly damaging	Het
Kcnt1	T	C	2: 25,805,880 (GRCm39)		probably null	Het
Lpcat1	T	C	13: 73,637,212 (GRCm39)	I114T	possibly damaging	Het
Mast4	G	T	13: 102,875,319 (GRCm39)	H1350N	probably damaging	Het
Mcts1	T	C	X: 37,691,445 (GRCm39)		probably benign	Het
Muc21	A	G	17: 35,932,504 (GRCm39)		probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Ncor2	T	C	5: 125,195,756 (GRCm39)		probably benign	Het
Or1o4	T	A	17: 37,591,140 (GRCm39)	Y57F	probably damaging	Het
Or5t17	T	A	2: 86,832,388 (GRCm39)	I25K	probably damaging	Het
Or9g4b	C	T	2: 85,616,559 (GRCm39)	R235*	probably null	Het
Panx2	A	G	15: 88,952,664 (GRCm39)	D377G	probably damaging	Het
Pcdhb10	C	A	18: 37,545,470 (GRCm39)	T182N	probably damaging	Het
Pdha2	G	T	3: 140,916,889 (GRCm39)	F206L	possibly damaging	Het
Pgd	T	C	4: 149,250,461 (GRCm39)		probably benign	Het
Pgs1	C	T	11: 117,910,584 (GRCm39)		probably null	Het
Rere	T	C	4: 150,554,785 (GRCm39)	V161A	probably benign	Het
Rgs12	G	A	5: 35,123,359 (GRCm39)	V381M	possibly damaging	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Rsph6a	T	C	7: 18,791,539 (GRCm39)	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,833,456 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,269,665 (GRCm39)	L108F	possibly damaging	Het
Sap18b	T	C	8: 96,552,185 (GRCm39)	F65S	probably damaging	Het
Scap	A	G	9: 110,210,365 (GRCm39)	M925V	probably benign	Het
Slc7a8	A	G	14: 54,975,029 (GRCm39)	I200T	probably damaging	Het
Srrm3	A	G	5: 135,886,068 (GRCm39)	D336G	probably damaging	Het
Stk11	T	C	10: 79,963,782 (GRCm39)		probably null	Het
Tiam2	C	G	17: 3,557,976 (GRCm39)		probably benign	Het
Trio	T	A	15: 27,833,156 (GRCm39)	K75N	probably damaging	Het
Tspan18	T	C	2: 93,050,453 (GRCm39)	I57V	probably benign	Het
Ube3b	C	A	5: 114,538,012 (GRCm39)	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	probably damaging	Het
Zfp37	T	C	4: 62,110,800 (GRCm39)	N88S	probably benign	Het
Zswim8	C	T	14: 20,761,157 (GRCm39)	R142*	probably null	Het

Other mutations in Tmem59l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00903:Tmem59l	APN	8	70,938,315 (GRCm39)	splice site	probably benign
IGL01479:Tmem59l	APN	8	70,938,748 (GRCm39)	missense	probably benign	0.00
IGL01783:Tmem59l	APN	8	70,939,874 (GRCm39)	missense	probably damaging	1.00
IGL01998:Tmem59l	APN	8	70,937,431 (GRCm39)	missense	probably benign	0.16
R0973:Tmem59l	UTSW	8	70,938,710 (GRCm39)	missense	possibly damaging	0.93
R0973:Tmem59l	UTSW	8	70,938,710 (GRCm39)	missense	possibly damaging	0.93
R0974:Tmem59l	UTSW	8	70,938,710 (GRCm39)	missense	possibly damaging	0.93
R1201:Tmem59l	UTSW	8	70,937,037 (GRCm39)	nonsense	probably null
R1540:Tmem59l	UTSW	8	70,937,804 (GRCm39)	missense	probably benign	0.05
R1775:Tmem59l	UTSW	8	70,938,903 (GRCm39)	missense	probably damaging	1.00
R2217:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R2238:Tmem59l	UTSW	8	70,937,772 (GRCm39)	missense	probably damaging	0.99
R2313:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R2315:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R2969:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R2970:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R3011:Tmem59l	UTSW	8	70,938,887 (GRCm39)	missense	probably damaging	1.00
R3725:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R3726:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R3774:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R3775:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R3827:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R3828:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R3829:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R3851:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R3943:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R3944:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R4064:Tmem59l	UTSW	8	70,938,369 (GRCm39)	missense	probably damaging	1.00
R4409:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R4410:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R4422:Tmem59l	UTSW	8	70,938,749 (GRCm39)	missense	probably damaging	0.98
R4470:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R4471:Tmem59l	UTSW	8	70,939,951 (GRCm39)	missense	unknown
R4767:Tmem59l	UTSW	8	70,938,748 (GRCm39)	missense	probably benign	0.00
R5321:Tmem59l	UTSW	8	70,939,865 (GRCm39)	missense	probably damaging	1.00
R6130:Tmem59l	UTSW	8	70,937,255 (GRCm39)	missense	probably damaging	1.00
R6527:Tmem59l	UTSW	8	70,938,775 (GRCm39)	missense	probably damaging	1.00
R6603:Tmem59l	UTSW	8	70,939,006 (GRCm39)	missense	probably benign	0.31
R6750:Tmem59l	UTSW	8	70,939,022 (GRCm39)	missense	probably benign	0.34
R7542:Tmem59l	UTSW	8	70,937,814 (GRCm39)	missense	possibly damaging	0.56
R8265:Tmem59l	UTSW	8	70,938,426 (GRCm39)	missense	probably damaging	0.99
R9320:Tmem59l	UTSW	8	70,937,822 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

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

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

Posted On

2015-04-02