Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01746:Tmem253'

153027

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem253

Ensembl Gene

ENSMUSG00000072571

Gene Name

transmembrane protein 253

Synonyms

G630016D24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL01746

Quality Score

Status

Chromosome

Chromosomal Location

52253115-52257251 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 52254614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 23 (W23*)

Ref Sequence

ENSEMBL: ENSMUSP00000153729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067549] [ENSMUST00000100638] [ENSMUST00000166169] [ENSMUST00000226522] [ENSMUST00000226527] [ENSMUST00000226554] [ENSMUST00000228051] [ENSMUST00000227295] [ENSMUST00000226605] [ENSMUST00000228580] [ENSMUST00000228408] [ENSMUST00000228162]

AlphaFold

Q3UNB8

Predicted Effect

probably benign
Transcript: ENSMUST00000067549

SMART Domains

Protein: ENSMUSP00000068184
Gene: ENSMUSG00000049295

Domain	Start	End	E-Value	Type
low complexity region	30	47	N/A	INTRINSIC
ZnF_C2H2	61	83	6.23e-2	SMART
ZnF_C2H2	89	111	4.17e-3	SMART
low complexity region	113	146	N/A	INTRINSIC
ZnF_C2H2	167	190	3.07e-1	SMART
ZnF_C2H2	193	216	1.51e0	SMART
low complexity region	229	276	N/A	INTRINSIC
ZnF_C2H2	277	299	8.47e-4	SMART
ZnF_C2H2	305	327	1.38e-3	SMART
low complexity region	331	350	N/A	INTRINSIC
low complexity region	354	379	N/A	INTRINSIC
low complexity region	427	441	N/A	INTRINSIC
ZnF_C2H2	501	523	3.63e-3	SMART
ZnF_C2H2	529	551	1.58e-3	SMART
low complexity region	560	570	N/A	INTRINSIC
low complexity region	594	611	N/A	INTRINSIC
low complexity region	637	648	N/A	INTRINSIC
ZnF_C2H2	650	672	2.82e0	SMART
low complexity region	675	684	N/A	INTRINSIC
low complexity region	695	714	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000100638
AA Change: W23*

SMART Domains

Protein: ENSMUSP00000098203
Gene: ENSMUSG00000072571
AA Change: W23*

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
transmembrane domain	58	80	N/A	INTRINSIC
transmembrane domain	101	123	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166169

SMART Domains

Protein: ENSMUSP00000126854
Gene: ENSMUSG00000049295

Domain	Start	End	E-Value	Type
low complexity region	30	47	N/A	INTRINSIC
ZnF_C2H2	61	83	6.23e-2	SMART
ZnF_C2H2	89	111	4.17e-3	SMART
low complexity region	113	146	N/A	INTRINSIC
ZnF_C2H2	167	190	3.07e-1	SMART
ZnF_C2H2	193	216	1.51e0	SMART
low complexity region	229	276	N/A	INTRINSIC
ZnF_C2H2	277	299	8.47e-4	SMART
ZnF_C2H2	305	327	1.38e-3	SMART
low complexity region	331	350	N/A	INTRINSIC
low complexity region	354	379	N/A	INTRINSIC
low complexity region	427	441	N/A	INTRINSIC
ZnF_C2H2	501	523	3.63e-3	SMART
ZnF_C2H2	529	551	1.58e-3	SMART
low complexity region	560	570	N/A	INTRINSIC
low complexity region	594	611	N/A	INTRINSIC
low complexity region	637	648	N/A	INTRINSIC
ZnF_C2H2	650	672	2.82e0	SMART
low complexity region	675	684	N/A	INTRINSIC
low complexity region	695	714	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226268

Predicted Effect

probably benign
Transcript: ENSMUST00000226522

Predicted Effect

probably benign
Transcript: ENSMUST00000226527

Predicted Effect

probably benign
Transcript: ENSMUST00000226554

Predicted Effect

probably benign
Transcript: ENSMUST00000228051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227420

Predicted Effect

probably null
Transcript: ENSMUST00000227295
AA Change: W23*

Predicted Effect

probably benign
Transcript: ENSMUST00000226605

Predicted Effect

probably benign
Transcript: ENSMUST00000228580

Predicted Effect

probably null
Transcript: ENSMUST00000228408
AA Change: W23*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226970

Predicted Effect

probably benign
Transcript: ENSMUST00000228162

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,982,276 (GRCm39)	M1187V	possibly damaging	Het
Ctsm	T	C	13: 61,687,630 (GRCm39)	E76G	probably benign	Het
Ctsm	T	C	13: 61,686,717 (GRCm39)		probably benign	Het
Egfl8	T	C	17: 34,833,890 (GRCm39)	T63A	probably damaging	Het
Fat4	T	A	3: 39,045,880 (GRCm39)	C3966*	probably null	Het
Fsd2	T	C	7: 81,202,755 (GRCm39)	T275A	probably benign	Het
Fyb2	A	T	4: 104,802,404 (GRCm39)	H102L	probably benign	Het
Galnt9	T	C	5: 110,736,188 (GRCm39)	I168T	probably damaging	Het
Hc	A	G	2: 34,947,338 (GRCm39)	Y59H	probably damaging	Het
Khnyn	T	C	14: 56,124,439 (GRCm39)	V231A	probably benign	Het
Larp4b	T	A	13: 9,208,160 (GRCm39)	V378E	probably damaging	Het
Lbx1	A	T	19: 45,222,214 (GRCm39)	S270T	possibly damaging	Het
Mcm6	G	A	1: 128,281,261 (GRCm39)	R101*	probably null	Het
Mcph1	T	C	8: 18,721,143 (GRCm39)	L657P	probably damaging	Het
Ndst2	G	T	14: 20,779,482 (GRCm39)	P253T	probably benign	Het
Nek4	G	A	14: 30,699,541 (GRCm39)		probably null	Het
Nsd1	T	A	13: 55,424,328 (GRCm39)		probably null	Het
Oc90	A	G	15: 65,761,250 (GRCm39)		probably benign	Het
Plcl2	T	A	17: 50,914,724 (GRCm39)	S578T	probably benign	Het
Ranbp3l	T	A	15: 9,063,167 (GRCm39)	C325*	probably null	Het
Rps19bp1	T	C	15: 80,145,198 (GRCm39)	Y140C	probably damaging	Het
Sec62	T	A	3: 30,868,395 (GRCm39)	I208K	probably benign	Het
Slc25a48	T	A	13: 56,618,166 (GRCm39)	F268I	probably damaging	Het
Slc35e3	T	C	10: 117,580,807 (GRCm39)	T166A	possibly damaging	Het
Tmem97	T	C	11: 78,433,586 (GRCm39)	Y103C	probably damaging	Het
Traf6	A	G	2: 101,527,237 (GRCm39)	E329G	possibly damaging	Het
Ttll12	A	G	15: 83,462,877 (GRCm39)	F530L	probably damaging	Het
Ugt3a1	C	T	15: 9,361,754 (GRCm39)	P177S	probably damaging	Het
Veph1	T	C	3: 66,065,508 (GRCm39)	T520A	probably benign	Het
Vmn2r98	T	A	17: 19,286,713 (GRCm39)	Y404N	probably damaging	Het

Other mutations in Tmem253

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Tmem253	APN	14	52,255,418 (GRCm39)	missense	probably damaging	1.00
R0501:Tmem253	UTSW	14	52,256,036 (GRCm39)	missense	probably damaging	1.00
R0506:Tmem253	UTSW	14	52,254,663 (GRCm39)	intron	probably benign
R5905:Tmem253	UTSW	14	52,255,268 (GRCm39)	missense	possibly damaging	0.73
R6028:Tmem253	UTSW	14	52,255,268 (GRCm39)	missense	possibly damaging	0.73
R7710:Tmem253	UTSW	14	52,254,608 (GRCm39)	missense	possibly damaging	0.92
R8261:Tmem253	UTSW	14	52,256,708 (GRCm39)	missense	probably benign	0.05
R8860:Tmem253	UTSW	14	52,256,303 (GRCm39)	missense	probably benign	0.01
R9165:Tmem253	UTSW	14	52,256,099 (GRCm39)	missense	probably benign
R9746:Tmem253	UTSW	14	52,255,439 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04