Mutagenetix > Incidental Mutation

Incidental Mutation 'R8860:Tmem253'

675624

Institutional Source

Beutler Lab

Gene Symbol

Tmem253

Ensembl Gene

ENSMUSG00000072571

Gene Name

transmembrane protein 253

Synonyms

G630016D24Rik

MMRRC Submission

068678-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52253115-52257251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52256303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 168 (R168G)

Ref Sequence

ENSEMBL: ENSMUSP00000098203 (fasta)

Gene Model

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

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: R168G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000098203
Gene: ENSMUSG00000072571
AA Change: R168G

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

probably benign
Transcript: ENSMUST00000226522

Predicted Effect

probably benign
Transcript: ENSMUST00000226527

Predicted Effect

probably benign
Transcript: ENSMUST00000226554

Predicted Effect

probably benign
Transcript: ENSMUST00000226605

Predicted Effect

unknown
Transcript: ENSMUST00000227295
AA Change: E157G

Predicted Effect

probably benign
Transcript: ENSMUST00000228051

Predicted Effect

probably benign
Transcript: ENSMUST00000228162

Predicted Effect

probably benign
Transcript: ENSMUST00000228408

Predicted Effect

probably benign
Transcript: ENSMUST00000228580

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,231,197 (GRCm39)	V985G	possibly damaging	Het
Acr	T	G	15: 89,458,057 (GRCm39)	M246R	probably damaging	Het
Ago4	A	T	4: 126,387,043 (GRCm39)	D853E	probably benign	Het
Atf6	A	T	1: 170,680,535 (GRCm39)	F52L	probably null	Het
Blm	A	T	7: 80,144,276 (GRCm39)	C782S	probably benign	Het
C2cd5	A	G	6: 143,028,946 (GRCm39)	Y98H	probably benign	Het
Ccdc106	A	G	7: 5,062,570 (GRCm39)	D192G	probably benign	Het
Celf2	A	G	2: 6,565,468 (GRCm39)		probably null	Het
Chd1l	A	G	3: 97,477,685 (GRCm39)	F690S	probably benign	Het
Chuk	A	G	19: 44,076,407 (GRCm39)	S435P	possibly damaging	Het
Cisd3	T	A	11: 97,576,703 (GRCm39)	S10T	probably benign	Het
Cma2	G	T	14: 56,210,574 (GRCm39)	C143F	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Cnppd1	A	G	1: 75,113,063 (GRCm39)	S402P	probably damaging	Het
Crtc1	A	G	8: 70,840,805 (GRCm39)	S474P	probably damaging	Het
Dhx38	A	T	8: 110,289,361 (GRCm39)	L13*	probably null	Het
Fat4	A	T	3: 38,946,269 (GRCm39)	T1721S	probably benign	Het
Fntb	T	A	12: 76,934,826 (GRCm39)	V201E	possibly damaging	Het
Gga3	T	C	11: 115,481,244 (GRCm39)	D242G	probably benign	Het
Hif3a	A	T	7: 16,774,912 (GRCm39)	M562K	probably benign	Het
Hnrnpc	A	G	14: 52,312,792 (GRCm39)	S261P	possibly damaging	Het
Intu	G	A	3: 40,627,162 (GRCm39)	M314I	probably benign	Het
Lims1	C	T	10: 58,243,925 (GRCm39)	Q126*	probably null	Het
Lrrc14b	T	A	13: 74,509,408 (GRCm39)	D333V	probably damaging	Het
Meaf6	T	A	4: 124,979,990 (GRCm39)	L48Q	probably damaging	Het
Miip	T	A	4: 147,950,839 (GRCm39)		probably benign	Het
Myh4	T	A	11: 67,132,335 (GRCm39)	I155N	probably damaging	Het
Nnt	T	C	13: 119,476,407 (GRCm39)	Y733C		Het
Nup155	T	C	15: 8,159,640 (GRCm39)	V517A	possibly damaging	Het
Obscn	C	T	11: 58,898,440 (GRCm39)	R6607Q	unknown	Het
Or2ak7	C	T	11: 58,574,966 (GRCm39)	T89I	probably benign	Het
Or51s1	A	G	7: 102,558,336 (GRCm39)	S237P	probably benign	Het
Ptprg	T	C	14: 12,213,685 (GRCm38)	Y1018H	probably damaging	Het
Rdh8	A	C	9: 20,734,021 (GRCm39)	N69T	probably benign	Het
Rgsl1	G	A	1: 153,697,100 (GRCm39)	Q572*	probably null	Het
Septin7	A	T	9: 25,163,980 (GRCm39)	N16Y	possibly damaging	Het
Sparcl1	T	C	5: 104,241,218 (GRCm39)	N69D	probably benign	Het
Ssh3	A	T	19: 4,317,992 (GRCm39)	V41E	probably damaging	Het
Vmn2r60	T	A	7: 41,791,654 (GRCm39)	F526I	probably damaging	Het
Vmn2r73	A	T	7: 85,522,149 (GRCm39)		probably benign	Het
Vps4b	A	G	1: 106,710,414 (GRCm39)	F156L	possibly damaging	Het
Zfp354c	T	A	11: 50,706,019 (GRCm39)	H352L	probably damaging	Het
Zic2	A	T	14: 122,713,530 (GRCm39)	H148L	possibly 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
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
R9165:Tmem253	UTSW	14	52,256,099 (GRCm39)	missense	probably benign
R9746:Tmem253	UTSW	14	52,255,439 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGACAGCCTTGGGAACTG -3'
(R):5'- GCCAGAAAGCCAATCAGTTTC -3'

Sequencing Primer
(F):5'- CTTGGGAACTGCCTCTATGGAC -3'
(R):5'- GAAAGCCAATCAGTTTCAGCCCTTC -3'

Posted On

2021-07-15