Mutagenetix > Incidental Mutation

Incidental Mutation 'R6848:Tpd52l1'

534871

Institutional Source

Beutler Lab

Gene Symbol

Tpd52l1

Ensembl Gene

ENSMUSG00000000296

Gene Name

tumor protein D52-like 1

Synonyms

D53

MMRRC Submission

045022-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6848 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31208372-31321954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31208853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 205 (E205G)

Ref Sequence

ENSEMBL: ENSMUSP00000149177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000304] [ENSMUST00000000305] [ENSMUST00000159194] [ENSMUST00000213528] [ENSMUST00000213639] [ENSMUST00000214644] [ENSMUST00000215515]

AlphaFold

O54818

Predicted Effect

probably benign
Transcript: ENSMUST00000000304

SMART Domains

Protein: ENSMUSP00000000304
Gene: ENSMUSG00000000295

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
HDc	37	152	3.51e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000000305
AA Change: E200G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000000305
Gene: ENSMUSG00000000296
AA Change: E200G

Domain	Start	End	E-Value	Type
Pfam:TPD52	9	187	1.3e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159194

SMART Domains

Protein: ENSMUSP00000124106
Gene: ENSMUSG00000000295

Domain	Start	End	E-Value	Type
Pfam:HD_3	1	100	1.5e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213528
AA Change: E205G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000213639
AA Change: E187G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000214644

Predicted Effect

probably benign
Transcript: ENSMUST00000215515

Meta Mutation Damage Score

0.0605

Coding Region Coverage

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

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,487 (GRCm39)	N290S	probably damaging	Het
Acox3	G	T	5: 35,749,528 (GRCm39)	G218C	probably damaging	Het
Acsf3	G	A	8: 123,517,329 (GRCm39)	G375D	probably damaging	Het
Adamts9	G	T	6: 92,840,335 (GRCm39)	N568K	possibly damaging	Het
Akr1cl	G	A	1: 65,063,928 (GRCm39)	T87I	probably damaging	Het
Brcc3dc	A	T	10: 108,535,451 (GRCm39)	V168E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Casp16	A	T	17: 23,770,053 (GRCm39)	C175*	probably null	Het
Cast	T	C	13: 74,844,052 (GRCm39)	K694R	possibly damaging	Het
Cep70	G	A	9: 99,144,954 (GRCm39)	R100H	probably benign	Het
Cep72	C	T	13: 74,186,395 (GRCm39)	A259T	possibly damaging	Het
Chsy1	T	A	7: 65,820,785 (GRCm39)	M340K	probably damaging	Het
Col27a1	T	C	4: 63,220,608 (GRCm39)	S182P	probably benign	Het
Crlf2	A	C	5: 109,704,897 (GRCm39)	F103V	possibly damaging	Het
Dync2h1	T	C	9: 7,159,632 (GRCm39)	N652S	probably benign	Het
Ephx4	G	A	5: 107,574,784 (GRCm39)	G274D	probably damaging	Het
Fer	T	A	17: 64,298,601 (GRCm39)	F517I	probably damaging	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gata3	T	A	2: 9,863,339 (GRCm39)	N392Y	possibly damaging	Het
Gria4	C	T	9: 4,793,822 (GRCm39)	V79M	probably damaging	Het
Grk3	A	C	5: 113,133,641 (GRCm39)	N60K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igf1r	T	G	7: 67,653,927 (GRCm39)	I155R	probably damaging	Het
Igsf9	T	C	1: 172,323,329 (GRCm39)	L681P	probably damaging	Het
Intu	T	C	3: 40,648,685 (GRCm39)	M789T	probably benign	Het
Kit	A	T	5: 75,767,872 (GRCm39)	Q85L	probably benign	Het
Klhdc2	T	A	12: 69,355,750 (GRCm39)	C325*	probably null	Het
Mcidas	A	G	13: 113,130,419 (GRCm39)	E5G	probably benign	Het
Mcm5	G	T	8: 75,853,918 (GRCm39)	R724L	possibly damaging	Het
Nrbp2	G	A	15: 75,963,332 (GRCm39)		probably benign	Het
Nrg1	A	G	8: 32,308,084 (GRCm39)	I655T	probably damaging	Het
Nsun4	T	C	4: 115,910,131 (GRCm39)	D143G	possibly damaging	Het
Opn3	C	T	1: 175,490,615 (GRCm39)	V349M	probably damaging	Het
Or51ag1	A	G	7: 103,155,664 (GRCm39)	V163A	possibly damaging	Het
Or5d47	A	T	2: 87,804,514 (GRCm39)	V165E	possibly damaging	Het
Or6d14	T	C	6: 116,533,736 (GRCm39)	S117P	probably damaging	Het
Pank2	C	A	2: 131,124,546 (GRCm39)	L297I	probably damaging	Het
Pcdh20	T	A	14: 88,704,690 (GRCm39)	E870V	probably benign	Het
Pdcd6	T	A	13: 74,457,959 (GRCm39)	M71L	possibly damaging	Het
Phkb	A	T	8: 86,756,246 (GRCm39)	I847F	probably damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Pwp2	C	G	10: 78,020,127 (GRCm39)		probably null	Het
Rbms3	A	G	9: 117,080,809 (GRCm39)	Y21H	probably damaging	Het
Rhbdl1	T	A	17: 26,055,158 (GRCm39)	K17*	probably null	Het
Rp1l1	C	A	14: 64,265,667 (GRCm39)	Q418K	possibly damaging	Het
Scpppq1	A	G	5: 104,222,603 (GRCm39)		probably benign	Het
Slc22a4	A	T	11: 53,898,615 (GRCm39)	V159E	possibly damaging	Het
Spata31d1a	T	C	13: 59,849,777 (GRCm39)	T784A	possibly damaging	Het
Tll1	A	G	8: 64,551,544 (GRCm39)	M279T	probably damaging	Het
Tmem163	A	T	1: 127,479,117 (GRCm39)	V134D	probably damaging	Het
Top2b	A	G	14: 16,409,958 (GRCm38)	N875S	possibly damaging	Het
Tpsb2	T	A	17: 25,586,802 (GRCm39)	Y271*	probably null	Het
Ugt3a1	G	A	15: 9,280,138 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,801,840 (GRCm39)	M154V	probably benign	Het
Zfp740	T	G	15: 102,117,243 (GRCm39)	I89S	probably benign	Het

Other mutations in Tpd52l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0123:Tpd52l1	UTSW	10	31,255,252 (GRCm39)	missense	probably damaging	1.00
R0134:Tpd52l1	UTSW	10	31,255,252 (GRCm39)	missense	probably damaging	1.00
R0225:Tpd52l1	UTSW	10	31,255,252 (GRCm39)	missense	probably damaging	1.00
R4411:Tpd52l1	UTSW	10	31,255,315 (GRCm39)	missense	possibly damaging	0.88
R4828:Tpd52l1	UTSW	10	31,222,697 (GRCm39)	missense	probably damaging	1.00
R5073:Tpd52l1	UTSW	10	31,233,916 (GRCm39)	missense	probably damaging	1.00
R5925:Tpd52l1	UTSW	10	31,208,943 (GRCm39)	missense	probably benign	0.18
R6332:Tpd52l1	UTSW	10	31,214,203 (GRCm39)	missense	probably damaging	1.00
R6906:Tpd52l1	UTSW	10	31,208,950 (GRCm39)	missense	possibly damaging	0.47
R7900:Tpd52l1	UTSW	10	31,214,178 (GRCm39)	splice site	probably null
R7935:Tpd52l1	UTSW	10	31,214,201 (GRCm39)	missense	probably damaging	0.99
R8010:Tpd52l1	UTSW	10	31,234,009 (GRCm39)	missense	possibly damaging	0.89
R8011:Tpd52l1	UTSW	10	31,208,913 (GRCm39)	missense	probably benign
R8835:Tpd52l1	UTSW	10	31,255,314 (GRCm39)	missense	probably benign	0.04
R9321:Tpd52l1	UTSW	10	31,214,189 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AGTAGTGGTCATCAACACAAATGC -3'
(R):5'- GTGCCTCTGAAGAAAATTGGTTATG -3'

Sequencing Primer
(F):5'- GTGGTCATCAACACAAATGCAAAAAG -3'
(R):5'- CTCAAAGGAAATTAAACTTTTGGCAC -3'

Posted On

2018-09-12