Mutagenetix > Incidental Mutation

Incidental Mutation 'R5729:Tmem53'

452643

Institutional Source

Beutler Lab

Gene Symbol

Tmem53

Ensembl Gene

ENSMUSG00000048772

Gene Name

transmembrane protein 53

Synonyms

1110038M16Rik, 1500001P22Rik, 1700012A05Rik

MMRRC Submission

043346-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R5729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117109148-117125779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 117125669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 261 (H261N)

Ref Sequence

ENSEMBL: ENSMUSP00000102042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030439] [ENSMUST00000062824] [ENSMUST00000094853] [ENSMUST00000102690] [ENSMUST00000106433] [ENSMUST00000106434] [ENSMUST00000125943] [ENSMUST00000221654]

AlphaFold

Q9D0Z3

Predicted Effect

probably benign
Transcript: ENSMUST00000030439

SMART Domains

Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677

Domain	Start	End	E-Value	Type
Pfam:RNF220	217	339	3.5e-38	PFAM
Pfam:RNF220	325	444	4.9e-51	PFAM
RING	514	552	1.62e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062824
AA Change: H254N

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061523
Gene: ENSMUSG00000048772
AA Change: H254N

Domain	Start	End	E-Value	Type
Pfam:DUF829	34	270	4.1e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094853

SMART Domains

Protein: ENSMUSP00000092449
Gene: ENSMUSG00000028677

Domain	Start	End	E-Value	Type
low complexity region	176	187	N/A	INTRINSIC
RING	301	339	1.62e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102690

SMART Domains

Protein: ENSMUSP00000099751
Gene: ENSMUSG00000028677

Domain	Start	End	E-Value	Type
low complexity region	68	79	N/A	INTRINSIC
RING	193	231	1.62e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106433
AA Change: H239N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102041
Gene: ENSMUSG00000048772
AA Change: H239N

Domain	Start	End	E-Value	Type
Pfam:DUF829	19	255	3.4e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106434
AA Change: H261N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102042
Gene: ENSMUSG00000048772
AA Change: H261N

Domain	Start	End	E-Value	Type
Pfam:DUF829	41	277	1.3e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125943
AA Change: H239N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121458
Gene: ENSMUSG00000048772
AA Change: H239N

Domain	Start	End	E-Value	Type
Pfam:DUF829	19	252	5.3e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145836

Predicted Effect

probably benign
Transcript: ENSMUST00000221654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128122

SMART Domains

Protein: ENSMUSP00000114642
Gene: ENSMUSG00000028677

Domain	Start	End	E-Value	Type
low complexity region	94	105	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223371

Meta Mutation Damage Score

0.5617

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	A	T	1: 177,623,824 (GRCm39)	V46E	possibly damaging	Het
Aldoart2	T	C	12: 55,612,690 (GRCm39)	V205A	probably benign	Het
Atp1a2	A	G	1: 172,120,938 (GRCm39)	S45P	probably damaging	Het
Atp4a	A	G	7: 30,411,851 (GRCm39)	K29E	possibly damaging	Het
AU040320	T	A	4: 126,724,208 (GRCm39)	D428E	probably damaging	Het
Bend7	T	C	2: 4,768,085 (GRCm39)	L347P	probably damaging	Het
Cacna2d1	T	A	5: 16,140,037 (GRCm39)	L9*	probably null	Het
Ccdc103	A	T	11: 102,773,904 (GRCm39)	I50F	probably damaging	Het
Cdc5l	T	C	17: 45,737,495 (GRCm39)	I88V	probably benign	Het
Cracr2a	T	C	6: 127,584,199 (GRCm39)	V86A	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dgkd	C	T	1: 87,864,054 (GRCm39)	Q90*	probably null	Het
Dnajc21	A	T	15: 10,449,682 (GRCm39)	D446E	probably benign	Het
Fam13a	T	G	6: 58,916,292 (GRCm39)	R648S	probably damaging	Het
Gabrg2	A	G	11: 41,858,450 (GRCm39)	V226A	probably damaging	Het
Gm5499	A	T	17: 87,385,944 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Irf2bp1	G	T	7: 18,739,172 (GRCm39)	E271*	probably null	Het
Krt86	T	G	15: 101,374,429 (GRCm39)	V274G	probably benign	Het
Lats2	A	T	14: 57,960,192 (GRCm39)	C151S	probably benign	Het
Mapk3	A	T	7: 126,363,979 (GRCm39)	T254S	probably benign	Het
Mat2b	A	T	11: 40,573,373 (GRCm39)	M202K	probably damaging	Het
Mos	A	G	4: 3,870,971 (GRCm39)	Y282H	probably benign	Het
Myo3b	A	G	2: 69,936,083 (GRCm39)	K108R	probably damaging	Het
Naa16	A	G	14: 79,593,220 (GRCm39)	Y417H	probably damaging	Het
Oat	A	T	7: 132,159,984 (GRCm39)	I412N	probably damaging	Het
Or4d11	A	T	19: 12,013,272 (GRCm39)	I278N	probably damaging	Het
Pcdh1	A	T	18: 38,335,999 (GRCm39)	V73D	probably damaging	Het
Pigv	A	T	4: 133,392,134 (GRCm39)	Y345*	probably null	Het
Pitpnc1	G	T	11: 107,228,264 (GRCm39)	F34L	probably benign	Het
Plxnd1	A	G	6: 115,942,838 (GRCm39)	L1282P	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,762 (GRCm39)	D384G	probably benign	Het
Ppp2ca	G	A	11: 52,008,856 (GRCm39)	E119K	probably damaging	Het
Psg29	A	T	7: 16,944,459 (GRCm39)	N323I	probably damaging	Het
Rasa4	T	C	5: 136,122,016 (GRCm39)	V108A	probably benign	Het
Rbm14	A	G	19: 4,852,577 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,434,795 (GRCm39)	V657E	probably damaging	Het
Rhcg	A	T	7: 79,250,371 (GRCm39)	N237K	probably damaging	Het
Rpgrip1	A	G	14: 52,397,617 (GRCm39)	Q1302R	probably benign	Het
Rragc	A	G	4: 123,818,645 (GRCm39)	M287V	possibly damaging	Het
Scn7a	A	G	2: 66,572,301 (GRCm39)		probably null	Het
Sema6a	C	T	18: 47,414,410 (GRCm39)	C506Y	probably damaging	Het
Senp1	G	T	15: 97,964,412 (GRCm39)	H267Q	possibly damaging	Het
Skor2	A	G	18: 76,946,578 (GRCm39)	E100G	unknown	Het
Slc38a11	A	T	2: 65,147,365 (GRCm39)	C371S	probably benign	Het
Snai3	G	A	8: 123,181,629 (GRCm39)	A276V	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spag6	C	T	2: 18,720,525 (GRCm39)	T99I	probably benign	Het
Spop	A	G	11: 95,376,675 (GRCm39)	I243V	possibly damaging	Het
Sra1	A	T	18: 36,800,496 (GRCm39)		probably benign	Het
Stag3	T	A	5: 138,288,485 (GRCm39)	S140T	possibly damaging	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tbc1d2b	G	C	9: 90,089,925 (GRCm39)	A868G	probably benign	Het
Tead2	A	G	7: 44,870,166 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,844,627 (GRCm39)	S932T	probably damaging	Het
Usp9y	A	T	Y: 1,381,339 (GRCm39)	D827E	probably damaging	Het
Vmn2r53	T	C	7: 12,334,733 (GRCm39)	E309G	probably damaging	Het
Wrn	T	C	8: 33,758,806 (GRCm39)	S1026G	probably benign	Het
Zfp646	G	A	7: 127,484,626 (GRCm39)	A1760T	probably damaging	Het

Other mutations in Tmem53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02947:Tmem53	APN	4	117,125,285 (GRCm39)	nonsense	probably null
R1513:Tmem53	UTSW	4	117,123,090 (GRCm39)	missense	probably damaging	1.00
R4422:Tmem53	UTSW	4	117,123,149 (GRCm39)	missense	probably damaging	1.00
R5173:Tmem53	UTSW	4	117,122,908 (GRCm39)	intron	probably benign
R6467:Tmem53	UTSW	4	117,125,625 (GRCm39)	missense	possibly damaging	0.58
R6807:Tmem53	UTSW	4	117,125,528 (GRCm39)	missense	probably benign	0.15
R6980:Tmem53	UTSW	4	117,125,705 (GRCm39)	missense	probably damaging	1.00
R7256:Tmem53	UTSW	4	117,109,237 (GRCm39)	splice site	probably null
R9016:Tmem53	UTSW	4	117,125,451 (GRCm39)	missense	probably benign	0.01
R9515:Tmem53	UTSW	4	117,125,122 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- ACTTCTACGACAGGCTGCAG -3'
(R):5'- AATCAGCAGCCTATCACACTTG -3'

Sequencing Primer
(F):5'- TACGACAGGCTGCAGGACTC -3'
(R):5'- TGTCCAAGTAACTGTAAGGCTGCC -3'

Posted On

2017-01-03