Mutagenetix > Incidental Mutation

Incidental Mutation 'R5905:Tmem253'

456554

Institutional Source

Beutler Lab

Gene Symbol

Tmem253

Ensembl Gene

ENSMUSG00000072571

Gene Name

transmembrane protein 253

Synonyms

G630016D24Rik

MMRRC Submission

044102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52015658-52019794 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52017811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 57 (T57A)

Ref Sequence

ENSEMBL: ENSMUSP00000154460 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000100638
AA Change: T57A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000098203
Gene: ENSMUSG00000072571
AA Change: T57A

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: ENSMUST00000226605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226970

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227295
AA Change: T57A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000228162

Predicted Effect

probably benign
Transcript: ENSMUST00000228580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227420

Predicted Effect

probably benign
Transcript: ENSMUST00000228051

Predicted Effect

probably benign
Transcript: ENSMUST00000228408

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,479,569		probably null	Het
Acat1	A	T	9: 53,592,066	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,342,324	A924E	probably damaging	Het
Alad	G	T	4: 62,510,122	T305K	probably benign	Het
Als2cl	G	T	9: 110,898,084	R906L	probably damaging	Het
Ap3d1	T	C	10: 80,722,927	N281S	possibly damaging	Het
Arf4	A	G	14: 26,653,924	T113A	probably benign	Het
Arhgap8	A	T	15: 84,741,977	K84N	possibly damaging	Het
Asah2	T	C	19: 32,016,514	D438G	probably damaging	Het
Cachd1	C	A	4: 100,983,556	N905K	probably damaging	Het
Catsperb	T	A	12: 101,602,700	M877K	possibly damaging	Het
Cc2d2a	A	T	5: 43,712,426	M890L	probably benign	Het
Cd180	A	T	13: 102,706,033	H529L	possibly damaging	Het
Cdh23	G	T	10: 60,534,535	D160E	probably damaging	Het
Chd7	C	A	4: 8,840,553	N1440K	possibly damaging	Het
Cntln	T	A	4: 84,971,173	S298T	probably benign	Het
Dmap1	G	T	4: 117,676,766	T132K	probably benign	Het
Dnah11	C	T	12: 117,954,924	G3424E	probably damaging	Het
Dnah5	T	A	15: 28,387,833	M3146K	probably damaging	Het
Egfr	A	T	11: 16,911,494	E1091V	probably damaging	Het
Eps8l2	T	C	7: 141,357,833	F422S	possibly damaging	Het
F2r	A	G	13: 95,604,613	V138A	possibly damaging	Het
Faf1	T	A	4: 109,890,929	M477K	probably benign	Het
Fam149b	C	T	14: 20,359,910	T235M	probably benign	Het
Fan1	C	A	7: 64,353,651	A808S	probably benign	Het
Fbxl20	A	G	11: 98,115,445	I38T	probably damaging	Het
Fnbp4	C	A	2: 90,751,134	T177K	probably benign	Het
Gm884	A	T	11: 103,614,255	S2296T	probably damaging	Het
Gm9747	T	C	1: 82,234,298		probably benign	Het
Grip1	A	G	10: 119,985,492	D354G	probably benign	Het
Grk4	A	C	5: 34,711,730	Y189S	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hgfac	A	G	5: 35,042,362	N63D	probably benign	Het
Hk1	C	A	10: 62,353,058	K25N	probably null	Het
Hrc	G	A	7: 45,336,234	G270S	probably damaging	Het
Inhba	T	A	13: 16,017,308	W5R	probably benign	Het
Lipm	T	C	19: 34,111,911	S90P	probably benign	Het
Lman1l	A	G	9: 57,608,263	I443T	probably damaging	Het
Lmod3	T	A	6: 97,247,614	E415D	probably damaging	Het
Lrrc63	A	G	14: 75,086,174	S537P	possibly damaging	Het
Map9	T	A	3: 82,380,248		probably null	Het
Marf1	T	A	16: 14,127,249	Q1252L	probably damaging	Het
Mc3r	A	T	2: 172,249,209	D117V	probably damaging	Het
Mepce	A	G	5: 137,784,720	V448A	possibly damaging	Het
Mical1	A	T	10: 41,486,877	M973L	probably benign	Het
Mmp21	T	C	7: 133,678,714	T176A	probably benign	Het
Nacc2	A	G	2: 26,061,578	V415A	probably damaging	Het
Neb	G	A	2: 52,193,231	T1639I	probably damaging	Het
Nfia	A	G	4: 98,111,251	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,558,337	T460I	probably benign	Het
Olfr1079	T	A	2: 86,538,769	I49F	possibly damaging	Het
Olfr12	T	A	1: 92,620,142	C79S	possibly damaging	Het
Olfr625-ps1	T	A	7: 103,683,574	N285K	probably damaging	Het
Olfr689	T	C	7: 105,314,951	Y316H	probably benign	Het
Olfr763	A	T	10: 129,011,287	M1L	probably benign	Het
Olfr938	T	A	9: 39,078,083	I221F	probably damaging	Het
Otoa	T	A	7: 121,094,601	L68Q	probably damaging	Het
Pclo	A	T	5: 14,680,385		probably benign	Het
Pcsk2	T	A	2: 143,749,140	Y186N	probably damaging	Het
Pigz	A	G	16: 31,945,428	T435A	probably benign	Het
Pja2	T	C	17: 64,309,090	D270G	probably benign	Het
Polb	G	T	8: 22,639,995	S187*	probably null	Het
Popdc3	A	G	10: 45,317,919	D272G	probably benign	Het
Prss36	T	C	7: 127,933,572	D716G	probably benign	Het
Rapgef5	T	A	12: 117,748,426	D547E	probably damaging	Het
Slc4a11	T	A	2: 130,685,052	I719F	probably damaging	Het
Smpd2	A	G	10: 41,489,348	W51R	probably damaging	Het
Snrpb	T	A	2: 130,179,276		probably benign	Het
Sox9	A	G	11: 112,783,820	E148G	probably damaging	Het
Strbp	G	A	2: 37,625,255	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,559,826	M145K	probably damaging	Het
Syt17	T	C	7: 118,436,918	D74G	probably benign	Het
Taf5l	A	C	8: 124,002,975		probably null	Het
Tas2r131	T	G	6: 132,957,676	I57L	probably benign	Het
Tcf25	A	G	8: 123,381,437	N77S	possibly damaging	Het
Trrap	A	G	5: 144,849,920	K3170R	possibly damaging	Het
Tspan17	A	G	13: 54,793,298	N130S	probably damaging	Het
Vmn1r216	C	T	13: 23,099,197	L17F	probably damaging	Het
Vmn2r3	T	A	3: 64,275,277	T334S	probably benign	Het
Wnk2	G	T	13: 49,076,345	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,307,340	T947A	probably benign	Het
Zfhx3	C	T	8: 108,793,503	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549	S258P	probably damaging	Het
Zfp354c	T	C	11: 50,815,426	Y274C	probably damaging	Het
Zfp652	G	A	11: 95,749,863	A205T	probably benign	Het
Zfp964	A	G	8: 69,663,913	T388A	unknown	Het

Other mutations in Tmem253

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Tmem253	APN	14	52017961	missense	probably damaging	1.00
IGL01746:Tmem253	APN	14	52017157	nonsense	probably null
R0501:Tmem253	UTSW	14	52018579	missense	probably damaging	1.00
R0506:Tmem253	UTSW	14	52017206	intron	probably benign
R6028:Tmem253	UTSW	14	52017811	missense	possibly damaging	0.73
R7710:Tmem253	UTSW	14	52017151	missense	possibly damaging	0.92
R8261:Tmem253	UTSW	14	52019251	missense	probably benign	0.05
R8860:Tmem253	UTSW	14	52018846	missense	probably benign	0.01
R9165:Tmem253	UTSW	14	52018642	missense	probably benign
R9746:Tmem253	UTSW	14	52017982	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGCACAGGTACTTTACTAAGC -3'
(R):5'- GAGGAGGCCTCTATTCTCTTGTC -3'

Sequencing Primer
(F):5'- ACAGGTACTTTACTAAGCATTTATCC -3'
(R):5'- TCACCTTCCAGATGCAAGGTG -3'

Posted On

2017-02-15