Mutagenetix > Incidental Mutation

Incidental Mutation 'R0974:Tmem59l'

83025

Institutional Source

Beutler Lab

Gene Symbol

Tmem59l

Ensembl Gene

ENSMUSG00000035964

Gene Name

transmembrane protein 59-like

Synonyms

5330410G16Rik

MMRRC Submission

039103-MU

Accession Numbers

Essential gene?

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

Stock #

R0974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70936517-70940008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70938710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 124 (P124S)

Ref Sequence

ENSEMBL: ENSMUSP00000043659 (fasta)

Gene Model

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

AlphaFold

Q7TNI2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045286
AA Change: P124S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: P124S

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

0.0679

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.5%
20x: 91.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,997 (GRCm39)		probably null	Het
Adam18	T	C	8: 25,137,869 (GRCm39)	T324A	probably benign	Het
AI429214	A	G	8: 37,461,473 (GRCm39)	Q207R	probably benign	Het
Atp13a1	T	C	8: 70,254,794 (GRCm39)		probably null	Het
Atp6v0a1	T	A	11: 100,946,317 (GRCm39)	L770*	probably null	Het
B3gnt5	T	A	16: 19,588,760 (GRCm39)	D326E	probably damaging	Het
Btbd9	T	A	17: 30,518,607 (GRCm39)	D451V	probably damaging	Het
Cd46	T	C	1: 194,724,300 (GRCm39)	*366W	probably null	Het
Cdcp3	T	C	7: 130,839,911 (GRCm39)	L611P	probably damaging	Het
Cenpc1	A	T	5: 86,185,767 (GRCm39)	V248E	probably damaging	Het
Chd2	A	G	7: 73,128,412 (GRCm39)	S858P	probably damaging	Het
Cxcl1	A	T	5: 91,039,626 (GRCm39)	K85*	probably null	Het
Daam1	A	C	12: 71,962,558 (GRCm39)	K90T	unknown	Het
Dip2c	G	A	13: 9,626,944 (GRCm39)	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,177,987 (GRCm39)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,579,710 (GRCm39)	V3081A	probably damaging	Het
Dnah9	A	T	11: 65,896,663 (GRCm39)		probably null	Het
Efemp1	A	G	11: 28,804,538 (GRCm39)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,591,038 (GRCm39)	D65G	probably damaging	Het
Fsip2	A	T	2: 82,807,436 (GRCm39)	T1252S	probably benign	Het
Golga4	T	C	9: 118,366,341 (GRCm39)	I365T	probably damaging	Het
Gp2	A	T	7: 119,053,766 (GRCm39)	L65Q	probably damaging	Het
Ice1	C	A	13: 70,750,546 (GRCm39)	V1847L	probably benign	Het
Kbtbd7	A	G	14: 79,664,870 (GRCm39)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,332,576 (GRCm39)	T235A	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Lrfn5	G	A	12: 61,890,223 (GRCm39)	G504D	probably damaging	Het
Map6	G	A	7: 98,985,950 (GRCm39)	G821D	possibly damaging	Het
Myh13	T	A	11: 67,223,346 (GRCm39)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,462,347 (GRCm39)	C350Y	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm3	C	A	3: 114,895,635 (GRCm39)	S172R	probably benign	Het
Or13e8	A	G	4: 43,696,706 (GRCm39)	S156P	probably damaging	Het
Or1j14	A	G	2: 36,418,020 (GRCm39)	I199V	probably benign	Het
Or4c1	A	T	2: 89,133,528 (GRCm39)	I136N	probably damaging	Het
Or5d40	A	T	2: 88,015,322 (GRCm39)	T34S	probably benign	Het
Pacs1	A	T	19: 5,193,857 (GRCm39)	D557E	probably damaging	Het
Phactr2	T	C	10: 13,122,883 (GRCm39)	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,561,305 (GRCm39)	T438A	probably damaging	Het
Pld2	T	C	11: 70,447,907 (GRCm39)	W857R	probably damaging	Het
Rilpl1	A	G	5: 124,639,951 (GRCm39)	I122T	possibly damaging	Het
Rilpl1	A	G	5: 124,639,934 (GRCm39)	S156P	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,284,078 (GRCm39)	V260A	probably benign	Het
Slc33a1	A	G	3: 63,850,725 (GRCm39)	F533S	probably benign	Het
Slc38a4	C	T	15: 96,903,739 (GRCm39)	V421M	probably benign	Het
Snx14	A	G	9: 88,282,774 (GRCm39)		probably null	Het
Sri	A	T	5: 8,109,381 (GRCm39)	Q55L	probably damaging	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tm9sf1	T	C	14: 55,880,392 (GRCm39)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,713,699 (GRCm39)	T122A	probably benign	Het
Trpv6	T	A	6: 41,602,122 (GRCm39)	T396S	probably benign	Het
Usp24	T	A	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Usp24	A	G	4: 106,270,875 (GRCm39)		probably null	Het
Utp25	A	T	1: 192,797,011 (GRCm39)	N573K	probably damaging	Het
Vmn2r53	A	G	7: 12,335,319 (GRCm39)	F114L	probably damaging	Het
Zfp626	G	A	7: 27,517,907 (GRCm39)	R296H	probably damaging	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
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
R3826: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'- ACTGGGCTGTGCTGATTTAGACAAC -3'
(R):5'- GTCCCCGAATAACAAGGCTATCCTG -3'

Sequencing Primer
(F):5'- CTGTGCTGATTTAGACAACTAGTG -3'
(R):5'- TAGGCCCAATGCCACAGAG -3'

Posted On

2013-11-08