Mutagenetix > Incidental Mutation

Incidental Mutation 'R2238:Tmem59l'

240240

Institutional Source

Beutler Lab

Gene Symbol

Tmem59l

Ensembl Gene

ENSMUSG00000035964

Gene Name

transmembrane protein 59-like

Synonyms

MMRRC Submission

040238-MU

Accession Numbers

Essential gene?

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

Stock #

R2238 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70483867-70487358 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70485122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 203 (T203A)

Ref Sequence

ENSEMBL: ENSMUSP00000043659 (fasta)

Gene Model

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

AlphaFold

Q7TNI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000045286
AA Change: T203A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: T203A

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

0.0771

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (59/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	A	4: 144,519,899	V5E	possibly damaging	Het
Acaca	T	C	11: 84,391,505		probably benign	Het
Adam18	T	C	8: 24,646,287	E406G	probably benign	Het
Adgrl4	A	T	3: 151,500,142	I164F	probably damaging	Het
Arhgap36	G	T	X: 49,493,405	V60L	possibly damaging	Het
Bmi1	T	C	2: 18,683,414		probably benign	Het
Carf	T	C	1: 60,148,034	S599P	probably benign	Het
Cdc37	G	A	9: 21,142,533	Q176*	probably null	Het
Clca3a1	T	A	3: 144,752,005	I373F	possibly damaging	Het
Clnk	A	G	5: 38,764,351		probably benign	Het
Cnot1	T	C	8: 95,769,521	I342V	probably benign	Het
Dact2	A	T	17: 14,197,050	L296Q	probably damaging	Het
Dctn2	C	T	10: 127,276,388	T123I	probably damaging	Het
Deup1	A	C	9: 15,575,301	I455S	probably damaging	Het
Dnmbp	A	G	19: 43,868,864	V957A	possibly damaging	Het
Emilin2	T	C	17: 71,274,739	R331G	possibly damaging	Het
Eomes	A	G	9: 118,482,291	D394G	probably damaging	Het
Epn1	A	G	7: 5,097,602	N518S	probably damaging	Het
Gbf1	T	C	19: 46,163,618	I30T	probably benign	Het
Gcc1	A	G	6: 28,420,463	V285A	probably benign	Het
Gopc	T	C	10: 52,353,403	H188R	probably damaging	Het
Herc6	A	G	6: 57,654,401	N693D	probably benign	Het
Hipk2	A	G	6: 38,729,915		probably benign	Het
Htatsf1	G	T	X: 57,066,504	D642Y	unknown	Het
Ints1	G	A	5: 139,765,200	T814M	possibly damaging	Het
Kdm6a	T	C	X: 18,199,237	F104S	probably damaging	Het
Kdr	T	A	5: 75,949,519	Y936F	possibly damaging	Het
Ly6k	T	C	15: 74,797,169	E87G	probably benign	Het
Lyst	A	G	13: 13,743,263	N3303D	probably benign	Het
Mindy4	T	C	6: 55,301,070	F633S	probably damaging	Het
Msl2	T	A	9: 101,101,370	N314K	probably benign	Het
Ncapd3	A	G	9: 27,067,024	T840A	probably benign	Het
Neil3	T	C	8: 53,599,276	D429G	possibly damaging	Het
Nt5c1b	C	A	12: 10,375,558	T309K	probably damaging	Het
Nt5c1b	A	G	12: 10,390,108	Y550C	probably damaging	Het
Olfr1417	T	C	19: 11,828,450	D192G	probably damaging	Het
Pabpc4l	A	C	3: 46,446,702	V169G	probably damaging	Het
Pcgf5	A	T	19: 36,437,354	N105I	probably damaging	Het
Phka2	A	G	X: 160,541,412	E254G	probably damaging	Het
Pik3cb	A	G	9: 99,041,028	Y984H	probably damaging	Het
Ptprz1	A	T	6: 22,987,377	Q387L	probably damaging	Het
Rassf8	T	C	6: 145,817,184	V419A	probably damaging	Het
Rnf148	T	C	6: 23,654,346	Y217C	probably benign	Het
Sec24d	T	A	3: 123,349,894		probably null	Het
Sesn3	T	C	9: 14,308,465	V50A	probably benign	Het
Sgcd	T	C	11: 47,132,682	N99D	possibly damaging	Het
Sncaip	T	C	18: 52,868,547	S47P	probably damaging	Het
Sp2	C	T	11: 96,955,936	C527Y	probably damaging	Het
Spata4	A	C	8: 54,602,629	K185T	probably benign	Het
Spin2c	A	G	X: 153,833,676	I162V	probably damaging	Het
Srcin1	T	C	11: 97,534,819	T471A	probably benign	Het
Stac	G	A	9: 111,690,122		probably benign	Het
Tcaf3	A	G	6: 42,593,328	Y497H	probably benign	Het
Tmem40	C	T	6: 115,731,077	W150*	probably null	Het
Tnfsf11	A	T	14: 78,299,981	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,771,147	T984I	probably benign	Het
Vmn1r204	A	G	13: 22,556,823	H208R	probably benign	Het
Vmn2r98	T	A	17: 19,065,951	M237K	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
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
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'- TCTCAGCTAGAAGGACAGCC -3'
(R):5'- TTGACTCCTGGGAGAACTGG -3'

Sequencing Primer
(F):5'- TAGATGCCAGGACTCGGG -3'
(R):5'- AGAACTGGGGGCCACCTG -3'

Posted On

2014-10-15