Mutagenetix > Incidental Mutation

Incidental Mutation 'R9515:Tmem53'

718450

Institutional Source

Beutler Lab

Gene Symbol

Tmem53

Ensembl Gene

ENSMUSG00000048772

Gene Name

transmembrane protein 53

Synonyms

1110038M16Rik, 1500001P22Rik, 1700012A05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R9515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117109148-117125779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 117125122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 78 (H78Q)

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

probably benign
Transcript: ENSMUST00000062824
AA Change: H71Q

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000061523
Gene: ENSMUSG00000048772
AA Change: H71Q

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 benign
Transcript: ENSMUST00000106433
AA Change: H56Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000102041
Gene: ENSMUSG00000048772
AA Change: H56Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106434
AA Change: H78Q

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102042
Gene: ENSMUSG00000048772
AA Change: H78Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125943
AA Change: H56Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000121458
Gene: ENSMUSG00000048772
AA Change: H56Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221654

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aamdc	A	G	7: 97,224,808 (GRCm39)	V18A	probably benign	Het
Adam12	T	A	7: 133,509,373 (GRCm39)	I796F	probably benign	Het
Adcy7	T	A	8: 89,037,646 (GRCm39)	V238E	possibly damaging	Het
Adgrv1	G	A	13: 81,691,497 (GRCm39)	H1697Y	probably damaging	Het
Adrb1	A	G	19: 56,711,825 (GRCm39)	D341G	probably benign	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Akap9	C	T	5: 4,105,709 (GRCm39)	L2927F	probably damaging	Het
Alox8	T	A	11: 69,075,950 (GRCm39)	D667V	probably damaging	Het
Arhgap30	A	G	1: 171,236,002 (GRCm39)	E792G	probably benign	Het
Arhgef16	A	G	4: 154,365,432 (GRCm39)	V561A	possibly damaging	Het
Bcap29	A	T	12: 31,676,756 (GRCm39)	Y105N	probably damaging	Het
Best2	T	A	8: 85,740,147 (GRCm39)	T6S		Het
Bfsp2	C	A	9: 103,357,251 (GRCm39)	V59L	possibly damaging	Het
Brd3	T	A	2: 27,349,815 (GRCm39)	D246V		Het
Btnl1	T	A	17: 34,600,118 (GRCm39)	V207E	probably benign	Het
Ccdc122	T	A	14: 77,329,408 (GRCm39)	Y154N		Het
Cfap43	A	G	19: 47,773,814 (GRCm39)	Y656H	probably damaging	Het
Clca3a2	A	T	3: 144,508,808 (GRCm39)	Y670*	probably null	Het
Coprs	T	C	8: 13,935,081 (GRCm39)	Y158C	probably damaging	Het
Desi2	T	G	1: 178,084,170 (GRCm39)	M106R	unknown	Het
Dnaaf3	T	C	7: 4,531,100 (GRCm39)	E111G	probably damaging	Het
Epha10	T	A	4: 124,775,704 (GRCm39)	F13I	probably benign	Het
Fam193a	T	A	5: 34,615,371 (GRCm39)	F813L	possibly damaging	Het
Fbn1	C	A	2: 125,207,551 (GRCm39)	A981S	probably benign	Het
Gga2	T	A	7: 121,611,448 (GRCm39)	T37S	probably damaging	Het
Glra3	T	A	8: 56,578,299 (GRCm39)	F452Y	probably damaging	Het
Gm10338	T	A	14: 19,280,438 (GRCm39)	N96I	probably damaging	Het
Gpd2	A	T	2: 57,195,866 (GRCm39)	E149V	possibly damaging	Het
Gpr137c	T	G	14: 45,516,229 (GRCm39)	L321*	probably null	Het
Gsdmc2	T	C	15: 63,702,678 (GRCm39)	I196M	probably benign	Het
Habp2	A	G	19: 56,295,253 (GRCm39)	D48G	probably benign	Het
Hdc	G	T	2: 126,458,149 (GRCm39)	P58T	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Hnrnpr	G	T	4: 136,063,615 (GRCm39)	V342F	probably damaging	Het
Hyal6	T	A	6: 24,734,929 (GRCm39)	Y287*	probably null	Het
Igsf8	T	C	1: 172,146,525 (GRCm39)	Y571H		Het
Kalrn	A	G	16: 33,854,864 (GRCm39)	S1999P	probably damaging	Het
Lama2	T	A	10: 26,877,170 (GRCm39)	N2672I	probably benign	Het
Lrrc7	T	C	3: 157,867,105 (GRCm39)	R879G	probably damaging	Het
Lrwd1	T	G	5: 136,160,413 (GRCm39)	H307P	probably benign	Het
Mau2	T	C	8: 70,480,153 (GRCm39)	Y318C	probably damaging	Het
Med13	T	C	11: 86,199,727 (GRCm39)	Q660R	probably benign	Het
Mepce	G	C	5: 137,783,759 (GRCm39)	P189R	probably damaging	Het
Mical3	T	A	6: 121,001,758 (GRCm39)	N578I	probably damaging	Het
Mug1	T	C	6: 121,861,635 (GRCm39)	S1366P	probably damaging	Het
Nol11	A	T	11: 107,064,278 (GRCm39)	D511E	possibly damaging	Het
Obscn	T	A	11: 58,994,340 (GRCm39)	H1514L	probably benign	Het
Onecut3	C	A	10: 80,331,887 (GRCm39)	S349*	probably null	Het
Or2l13b	C	T	16: 19,349,026 (GRCm39)	A215T	probably benign	Het
Or4f57	A	G	2: 111,790,584 (GRCm39)	V278A	possibly damaging	Het
Or5ap2b-ps1	A	T	2: 85,693,922 (GRCm39)	I56F	probably damaging	Het
Or5b110-ps1	G	A	19: 13,259,558 (GRCm39)	T288I	unknown	Het
Or7e169	A	G	9: 19,757,816 (GRCm39)	L33P	possibly damaging	Het
Or7g34	T	C	9: 19,478,396 (GRCm39)	I95V	possibly damaging	Het
Or8g18	T	C	9: 39,149,625 (GRCm39)	T32A	probably benign	Het
Patl2	C	T	2: 121,955,374 (GRCm39)	G297E	probably benign	Het
Pdlim5	G	A	3: 142,010,111 (GRCm39)	T168M	probably damaging	Het
Pdzd2	A	C	15: 12,374,621 (GRCm39)	L1838R	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pkd1l3	T	C	8: 110,395,849 (GRCm39)	V2083A	probably damaging	Het
Pkhd1	T	A	1: 20,637,741 (GRCm39)	Y348F	probably damaging	Het
Plekhg5	T	A	4: 152,198,826 (GRCm39)	S1005T	probably benign	Het
Ppp4r1	T	A	17: 66,142,073 (GRCm39)	N709K	probably null	Het
Pramel32	T	A	4: 88,546,219 (GRCm39)	L374F	possibly damaging	Het
Pramel40	G	A	5: 94,464,924 (GRCm39)	V437I	probably benign	Het
Reln	T	C	5: 22,125,508 (GRCm39)	D2725G	possibly damaging	Het
Rnf41	T	A	10: 128,274,299 (GRCm39)	I317K	probably benign	Het
Rxfp2	T	C	5: 149,979,444 (GRCm39)	V268A	possibly damaging	Het
Sema5a	A	G	15: 32,679,373 (GRCm39)	H884R	probably damaging	Het
Serpinh1	A	T	7: 98,996,484 (GRCm39)	M236K	probably damaging	Het
Sh3pxd2a	A	G	19: 47,255,610 (GRCm39)	L1064P	probably damaging	Het
Skint6	T	C	4: 112,715,375 (GRCm39)	H947R	probably benign	Het
Slc12a3	T	A	8: 95,083,658 (GRCm39)	M895K	possibly damaging	Het
Slc22a3	C	A	17: 12,726,057 (GRCm39)	R52L	probably damaging	Het
Slc38a1	A	G	15: 96,487,965 (GRCm39)	L180P	probably damaging	Het
Slc4a3	T	C	1: 75,533,612 (GRCm39)	V1078A	probably damaging	Het
Snx30	T	A	4: 59,879,241 (GRCm39)	V160E	probably damaging	Het
Spata18	A	T	5: 73,829,840 (GRCm39)	I332F		Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Svep1	T	A	4: 58,084,144 (GRCm39)	Y1876F	possibly damaging	Het
Sytl1	A	G	4: 132,986,291 (GRCm39)		probably null	Het
Tacc2	A	C	7: 130,366,041 (GRCm39)	K567Q	probably damaging	Het
Tfr2	A	G	5: 137,575,769 (GRCm39)	D295G	possibly damaging	Het
Tnnt2	G	A	1: 135,768,640 (GRCm39)	E10K	unknown	Het
Top2a	T	A	11: 98,902,970 (GRCm39)	I406F	probably damaging	Het
Ttc1	C	A	11: 43,621,305 (GRCm39)	R292I		Het
Ubr1	T	G	2: 120,703,627 (GRCm39)	T1568P	probably damaging	Het
Usp25	T	G	16: 76,852,076 (GRCm39)	V197G	probably damaging	Het
Usp9y	A	T	Y: 1,432,188 (GRCm39)	N432K	probably benign	Het
Vmn2r26	T	A	6: 124,038,137 (GRCm39)	Y571N	probably damaging	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	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
R5729:Tmem53	UTSW	4	117,125,669 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GGCCTTGAGTGTACTTCCAC -3'
(R):5'- TATCAGGTTGCTATCGCCAGG -3'

Sequencing Primer
(F):5'- ACTCCTGGGAGGCACCTATG -3'
(R):5'- TGTCAAAGATGGTGCCCAC -3'

Posted On

2022-07-18