Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:Tmem59l'

182950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem59l

Ensembl Gene

ENSMUSG00000035964

Gene Name

transmembrane protein 59-like

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

70483867-70487358 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70484781 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 239 (V239I)

Ref Sequence

ENSEMBL: ENSMUSP00000043659 (fasta)

Gene Model

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

AlphaFold

Q7TNI2

Predicted Effect

probably benign
Transcript: ENSMUST00000045286
AA Change: V239I

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: V239I

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

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	T	4: 35,194,179	D205E	probably benign	Het
4930435E12Rik	A	T	16: 38,828,224	D174E	probably benign	Het
4932438A13Rik	T	C	3: 36,957,016	S1788P	possibly damaging	Het
Arpc3	T	C	5: 122,403,407	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,886,066		probably null	Het
B3gnt8	A	G	7: 25,628,778	Y211C	probably damaging	Het
Birc6	T	C	17: 74,579,885	I736T	probably benign	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
C3ar1	A	T	6: 122,850,940	M106K	probably damaging	Het
Cab39l	T	A	14: 59,496,895	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043	I166F	probably damaging	Het
Cd180	A	G	13: 102,705,214	E256G	probably damaging	Het
Clca4a	T	C	3: 144,958,126	T519A	probably damaging	Het
Clstn3	A	T	6: 124,458,663	L233Q	probably damaging	Het
Crlf3	G	A	11: 80,058,019		probably benign	Het
Depdc5	T	C	5: 32,945,151		probably benign	Het
Drc7	T	A	8: 95,059,193	C226S	probably damaging	Het
Epha5	T	A	5: 84,084,734	D807V	probably damaging	Het
Fat2	A	G	11: 55,296,195	L1275P	probably benign	Het
Fv1	T	C	4: 147,869,327	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,307,089	M140I	unknown	Het
Klra5	A	T	6: 129,906,713	Y60*	probably null	Het
Lmtk2	C	T	5: 144,176,065	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,169,933	L1230H	probably damaging	Het
Ncapd2	A	T	6: 125,173,115	S917T	probably benign	Het
Nfx1	T	A	4: 41,004,353	I708N	probably damaging	Het
Notch2	A	T	3: 98,143,106	D1899V	probably damaging	Het
Npepl1	T	A	2: 174,116,200		probably benign	Het
Nps	T	A	7: 135,268,752		probably benign	Het
Nrg1	T	C	8: 31,918,134	S24G	probably damaging	Het
Olfr330	A	T	11: 58,529,577	Y136*	probably null	Het
Olfr352	A	G	2: 36,869,646	N27D	probably benign	Het
Olfr698	G	A	7: 106,752,551	T279M	possibly damaging	Het
Olfr730	C	A	14: 50,186,648	V190L	probably benign	Het
Pigx	G	T	16: 32,084,610	T211K	probably benign	Het
Pink1	A	G	4: 138,320,742	I223T	probably damaging	Het
Plat	G	A	8: 22,767,147	A15T	probably benign	Het
Ptges2	G	A	2: 32,401,530	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,194,645	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,660,096	K316E	probably benign	Het
Scn10a	A	G	9: 119,609,676	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,838,532	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,666,929	D170G	probably benign	Het
Spock1	A	T	13: 57,436,181		probably benign	Het
Strbp	A	G	2: 37,625,285	L243P	probably damaging	Het
Tgm5	T	A	2: 121,052,439	T446S	probably damaging	Het
Trav8-1	A	T	14: 53,470,205	T101S	probably benign	Het
Triml1	T	C	8: 43,141,313	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,615,300	E785G	probably benign	Het
Vps13c	A	G	9: 67,955,068		probably null	Het
Wwp2	C	T	8: 107,549,521	R64C	probably damaging	Het
Zfp608	T	C	18: 54,891,818	H1460R	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
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
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

Posted On

2014-05-07