Mutagenetix > Incidental Mutation

Incidental Mutation 'R9321:Tpd52l1'

706214

Institutional Source

Beutler Lab

Gene Symbol

Tpd52l1

Ensembl Gene

ENSMUSG00000000296

Gene Name

tumor protein D52-like 1

Synonyms

D53

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9321 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31208372-31321954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31214189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 165 (S165G)

Ref Sequence

ENSEMBL: ENSMUSP00000149177 (fasta)

Gene Model

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

AlphaFold

O54818

Predicted Effect

SMART Domains

Protein: ENSMUSP00000000305
Gene: ENSMUSG00000000296
AA Change: S160G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213639
AA Change: S147G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000214644

Predicted Effect

probably benign
Transcript: ENSMUST00000215515

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,460,475 (GRCm39)	S4162G	probably benign	Het
Acvr2b	T	C	9: 119,257,351 (GRCm39)	I152T	probably benign	Het
Adam15	T	A	3: 89,254,794 (GRCm39)		probably null	Het
Adam34	C	T	8: 44,105,243 (GRCm39)	G134D	probably damaging	Het
Aifm2	C	T	10: 61,571,410 (GRCm39)	Q315*	probably null	Het
Akap10	A	G	11: 61,791,235 (GRCm39)	F408S	probably damaging	Het
Ap3b2	T	C	7: 81,114,252 (GRCm39)		probably null	Het
Btbd2	A	C	10: 80,483,675 (GRCm39)	V181G	probably damaging	Het
Carmil3	G	T	14: 55,741,425 (GRCm39)	G1070V		Het
Ceacam2	G	T	7: 25,230,089 (GRCm39)	D172E	possibly damaging	Het
Crtc3	G	A	7: 80,259,650 (GRCm39)	A203V	probably benign	Het
Dclre1a	A	G	19: 56,531,100 (GRCm39)	S749P	probably damaging	Het
Dnah2	C	T	11: 69,338,939 (GRCm39)		probably null	Het
Eif2ak4	G	A	2: 118,292,798 (GRCm39)	V1341M	possibly damaging	Het
Enpp5	T	C	17: 44,393,689 (GRCm39)	V295A	possibly damaging	Het
Gm1110	T	A	9: 26,831,891 (GRCm39)	M87L	probably benign	Het
Gm57858	A	T	3: 36,073,139 (GRCm39)	V381E	probably damaging	Het
H2-Ab1	T	C	17: 34,486,969 (GRCm39)	L241P	probably damaging	Het
Hmx2	A	G	7: 131,157,320 (GRCm39)	T145A	probably benign	Het
Irag1	A	G	7: 110,524,534 (GRCm39)	S138P	probably benign	Het
Itpripl1	T	C	2: 126,984,000 (GRCm39)	S41G	probably benign	Het
Kcnb2	G	A	1: 15,779,793 (GRCm39)	D222N	possibly damaging	Het
Ldb3	C	A	14: 34,266,099 (GRCm39)	G499*	probably null	Het
Lig1	T	C	7: 13,034,935 (GRCm39)	F577S	probably damaging	Het
Lnx1	T	C	5: 74,780,991 (GRCm39)	I177V	probably damaging	Het
Mark4	G	T	7: 19,170,901 (GRCm39)	T323K	probably benign	Het
Mroh5	A	G	15: 73,661,113 (GRCm39)	V301A	probably benign	Het
Mtx3	T	A	13: 92,984,097 (GRCm39)	W125R	probably damaging	Het
Myo18a	G	A	11: 77,733,370 (GRCm39)	G1404R	probably damaging	Het
Myom2	C	T	8: 15,172,464 (GRCm39)	P1188S	possibly damaging	Het
Nars1	C	T	18: 64,637,950 (GRCm39)	E335K	probably damaging	Het
Nfya	A	T	17: 48,707,494 (GRCm39)	V16E	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nme5	T	G	18: 34,704,597 (GRCm39)	I83L	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nptx1	A	G	11: 119,438,378 (GRCm39)	L13P	unknown	Het
Or11g27	G	A	14: 50,771,471 (GRCm39)	V201I	probably benign	Het
Or13c25	G	T	4: 52,911,314 (GRCm39)	T160N	probably damaging	Het
Or13m2-ps1	T	A	6: 42,777,792 (GRCm39)	V39D	possibly damaging	Het
Or4k44	A	G	2: 111,368,434 (GRCm39)	S67P	probably damaging	Het
Or5j3	A	T	2: 86,128,297 (GRCm39)	I46F	probably benign	Het
Or6d13	T	C	6: 116,518,370 (GRCm39)	Y319H	probably benign	Het
Pdzd2	T	C	15: 12,386,023 (GRCm39)	T916A	probably benign	Het
Plekha6	A	G	1: 133,209,549 (GRCm39)	N615S	probably damaging	Het
Prorp	A	G	12: 55,351,434 (GRCm39)	I248V	possibly damaging	Het
Rad52	T	C	6: 119,889,969 (GRCm39)	Y32H	probably damaging	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Slx4	A	G	16: 3,804,654 (GRCm39)	M720T	probably benign	Het
Spem1	T	C	11: 69,712,661 (GRCm39)	H58R	probably benign	Het
Spg7	C	A	8: 123,803,688 (GRCm39)	D239E	probably benign	Het
Tas2r123	A	T	6: 132,825,095 (GRCm39)	M331L	probably benign	Het
Tcaf1	T	C	6: 42,656,290 (GRCm39)	T229A	probably benign	Het
Tdrd1	T	C	19: 56,848,767 (GRCm39)	L939P	probably damaging	Het
Timd2	T	C	11: 46,577,916 (GRCm39)	T72A	probably benign	Het
Tmem179	G	T	12: 112,477,390 (GRCm39)	N31K	probably damaging	Het
Tubgcp6	T	C	15: 88,992,186 (GRCm39)	T600A	probably damaging	Het
Txlna	T	A	4: 129,528,246 (GRCm39)	E230D	probably damaging	Het
Ush2a	A	T	1: 188,089,148 (GRCm39)	I368F	probably damaging	Het
Vmn1r76	A	T	7: 11,665,094 (GRCm39)	M40K	possibly damaging	Het
Zfp592	C	T	7: 80,691,226 (GRCm39)	S1135L	possibly damaging	Het
Zfp606	A	G	7: 12,226,610 (GRCm39)	T244A	possibly damaging	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
R6848:Tpd52l1	UTSW	10	31,208,853 (GRCm39)	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- TCAACTCTAAGGATGCAGGAAG -3'
(R):5'- AGTTGGTCCAGGTCACAAGC -3'

Sequencing Primer
(F):5'- GTGGCTGCTGACTTTATCAATAGATC -3'
(R):5'- TCCAGGTCACAAGCCGAGAG -3'

Posted On

2022-04-18