Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00333:Tmem253'

5878

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 #

IGL00333

Quality Score

Status

Chromosome

Chromosomal Location

52253115-52257251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52255418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 76 (L76P)

Ref Sequence

ENSEMBL: ENSMUSP00000098203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067549] [ENSMUST00000100638] [ENSMUST00000166169] [ENSMUST00000226522] [ENSMUST00000226527] [ENSMUST00000226554] [ENSMUST00000227295] [ENSMUST00000226605] [ENSMUST00000228580] [ENSMUST00000228051] [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 damaging
Transcript: ENSMUST00000100638
AA Change: L76P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098203
Gene: ENSMUSG00000072571
AA Change: L76P

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 damaging
Transcript: ENSMUST00000227295
AA Change: L76P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227420

Predicted Effect

probably benign
Transcript: ENSMUST00000226605

Predicted Effect

probably benign
Transcript: ENSMUST00000228580

Predicted Effect

probably benign
Transcript: ENSMUST00000228051

Predicted Effect

probably benign
Transcript: ENSMUST00000228408

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atosa	T	C	9: 74,933,072 (GRCm39)	I1006T	probably benign	Het
Atp8b3	C	T	10: 80,366,821 (GRCm39)	C259Y	probably damaging	Het
Bag6	T	G	17: 35,363,627 (GRCm39)	D770E	probably damaging	Het
Ccdc8	T	A	7: 16,729,967 (GRCm39)	D485E	unknown	Het
Cyp2c54	A	C	19: 40,060,522 (GRCm39)	V153G	probably damaging	Het
Haus8	A	G	8: 71,708,289 (GRCm39)		probably null	Het
Hgf	A	T	5: 16,816,880 (GRCm39)	T499S	possibly damaging	Het
Ifitm1	T	A	7: 140,549,537 (GRCm39)	*107R	probably null	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Klk1b27	T	A	7: 43,705,567 (GRCm39)		probably null	Het
Lpin2	C	A	17: 71,550,967 (GRCm39)	T709K	probably damaging	Het
Lrig3	T	C	10: 125,849,017 (GRCm39)	L945P	probably benign	Het
Lrrn4	C	T	2: 132,712,737 (GRCm39)	C362Y	probably damaging	Het
Map3k20	T	C	2: 72,202,320 (GRCm39)	S184P	probably damaging	Het
Nr2f1	A	T	13: 78,337,952 (GRCm39)	V231E	probably damaging	Het
Or12d13	A	T	17: 37,647,474 (GRCm39)	Y216*	probably null	Het
Orc1	T	C	4: 108,452,522 (GRCm39)		probably benign	Het
Osr1	A	C	12: 9,629,432 (GRCm39)	I102L	probably benign	Het
Pcbd1	A	T	10: 60,927,949 (GRCm39)	Q37L	probably benign	Het
Pclo	C	T	5: 14,571,691 (GRCm39)	Q359*	probably null	Het
Rpgrip1	A	T	14: 52,387,895 (GRCm39)		probably null	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Speer4a2	A	G	5: 26,291,491 (GRCm39)	M105T	possibly damaging	Het
Sspo	A	G	6: 48,447,387 (GRCm39)	T2184A	probably benign	Het
Synpo2	C	T	3: 122,906,859 (GRCm39)	G819D	probably damaging	Het
Taar8b	A	G	10: 23,967,654 (GRCm39)	V180A	possibly damaging	Het
Tbc1d8	T	C	1: 39,433,210 (GRCm39)	D324G	probably damaging	Het
Tcaf2	A	T	6: 42,606,970 (GRCm39)	L328*	probably null	Het
Tsc1	G	A	2: 28,551,623 (GRCm39)	V46I	probably damaging	Het
Ttn	A	T	2: 76,779,425 (GRCm39)	F1152I	probably benign	Het
Txnrd2	T	C	16: 18,257,101 (GRCm39)	V139A	probably damaging	Het
Ublcp1	T	C	11: 44,351,597 (GRCm39)	D212G	probably damaging	Het
Utrn	A	T	10: 12,547,574 (GRCm39)	L1622Q	probably damaging	Het
Vmn2r103	A	G	17: 20,013,364 (GRCm39)	T162A	probably damaging	Het

Other mutations in Tmem253

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Tmem253	APN	14	52,254,614 (GRCm39)	nonsense	probably null
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

2012-04-20