Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Tpd52l1'

33862

Institutional Source

Beutler Lab

Gene Symbol

Tpd52l1

Ensembl Gene

ENSMUSG00000000296

Gene Name

tumor protein D52-like 1

Synonyms

D53

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31332376-31445958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31379256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 32 (S32P)

Ref Sequence

ENSEMBL: ENSMUSP00000149177 (fasta)

Gene Model

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

AlphaFold

O54818

Predicted Effect

probably damaging
Transcript: ENSMUST00000000305
AA Change: S32P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000305
Gene: ENSMUSG00000000296
AA Change: S32P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213528
AA Change: S32P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213639
AA Change: S32P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214644
AA Change: S32P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215515
AA Change: S32P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3354

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	G	A	18: 38,261,264 (GRCm38)	V505I	probably benign	Het
4931417E11Rik	A	G	6: 73,469,419 (GRCm38)	L49P	possibly damaging	Het
Abca16	T	A	7: 120,540,155 (GRCm38)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855 (GRCm38)	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328 (GRCm38)	V70L	probably benign	Het
AW549877	T	C	15: 3,986,294 (GRCm38)	K263E	probably damaging	Het
Bicd1	T	C	6: 149,512,950 (GRCm38)	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941 (GRCm38)		probably null	Het
Chn2	T	C	6: 54,290,451 (GRCm38)		probably benign	Het
Col18a1	T	C	10: 77,088,914 (GRCm38)	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035 (GRCm38)	I461T	probably benign	Het
Dnlz	T	C	2: 26,351,368 (GRCm38)	N116S	probably damaging	Het
Esyt2	A	G	12: 116,367,710 (GRCm38)	N736S	probably damaging	Het
F11	T	C	8: 45,249,077 (GRCm38)	T267A	probably benign	Het
Fam234b	T	G	6: 135,217,074 (GRCm38)	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,930,347 (GRCm38)	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804 (GRCm38)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809 (GRCm38)	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495 (GRCm38)		probably benign	Het
Gm10936	G	A	10: 117,248,130 (GRCm38)		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704 (GRCm38)	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184 (GRCm38)	D131E	probably benign	Het
Hira	T	A	16: 18,956,171 (GRCm38)	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037 (GRCm38)		probably benign	Het
Il3	A	G	11: 54,265,680 (GRCm38)		probably null	Het
Itgae	A	C	11: 73,111,342 (GRCm38)	M91L	probably benign	Het
Kat2b	A	G	17: 53,641,210 (GRCm38)	E336G	probably damaging	Het
Kctd21	T	A	7: 97,348,091 (GRCm38)	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694 (GRCm38)		probably benign	Het
Lgi3	A	T	14: 70,532,821 (GRCm38)	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679 (GRCm38)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606 (GRCm38)	V278A	probably benign	Het
Lrch3	T	A	16: 32,961,754 (GRCm38)		probably benign	Het
Lrp1b	T	C	2: 40,596,983 (GRCm38)	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983 (GRCm38)		probably benign	Het
Miox	C	T	15: 89,334,454 (GRCm38)		probably benign	Het
Mndal	A	T	1: 173,857,513 (GRCm38)		probably benign	Het
Mug2	G	T	6: 122,074,714 (GRCm38)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,400,437 (GRCm38)	T29S	probably damaging	Het
Olfr1055	T	C	2: 86,347,728 (GRCm38)	I13V	possibly damaging	Het
Olfr307	A	G	7: 86,335,595 (GRCm38)	I267T	probably benign	Het
Olfr729	T	G	14: 50,148,635 (GRCm38)	K80Q	probably damaging	Het
Olfr933	A	G	9: 38,976,278 (GRCm38)	I201V	probably benign	Het
Phf3	A	T	1: 30,805,065 (GRCm38)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,228,243 (GRCm38)	R53G	probably benign	Het
Prickle1	A	G	15: 93,510,777 (GRCm38)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095 (GRCm38)	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105 (GRCm38)	S224R	probably damaging	Het
Siglecg	G	A	7: 43,411,171 (GRCm38)	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098 (GRCm38)	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605 (GRCm38)	K645E	probably benign	Het
St14	T	A	9: 31,108,284 (GRCm38)		probably null	Het
Tas2r120	T	A	6: 132,657,589 (GRCm38)	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900 (GRCm38)	T141K	possibly damaging	Het
Ttn	C	A	2: 76,793,130 (GRCm38)	V15368L	possibly damaging	Het
Ttn	T	A	2: 76,710,124 (GRCm38)	R34173W	probably damaging	Het
Tyms	A	G	5: 30,063,258 (GRCm38)	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510 (GRCm38)	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866 (GRCm38)	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049 (GRCm38)	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957 (GRCm38)	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261 (GRCm38)	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185 (GRCm38)	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294 (GRCm38)	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073 (GRCm38)		probably benign	Het
Zyg11a	G	A	4: 108,204,641 (GRCm38)	T321I	probably damaging	Het

Other mutations in Tpd52l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0123:Tpd52l1	UTSW	10	31,379,256 (GRCm38)	missense	probably damaging	1.00
R0134:Tpd52l1	UTSW	10	31,379,256 (GRCm38)	missense	probably damaging	1.00
R4411:Tpd52l1	UTSW	10	31,379,319 (GRCm38)	missense	possibly damaging	0.88
R4828:Tpd52l1	UTSW	10	31,346,701 (GRCm38)	missense	probably damaging	1.00
R5073:Tpd52l1	UTSW	10	31,357,920 (GRCm38)	missense	probably damaging	1.00
R5925:Tpd52l1	UTSW	10	31,332,947 (GRCm38)	missense	probably benign	0.18
R6332:Tpd52l1	UTSW	10	31,338,207 (GRCm38)	missense	probably damaging	1.00
R6848:Tpd52l1	UTSW	10	31,332,857 (GRCm38)	missense	probably benign	0.03
R6906:Tpd52l1	UTSW	10	31,332,954 (GRCm38)	missense	possibly damaging	0.47
R7900:Tpd52l1	UTSW	10	31,338,182 (GRCm38)	splice site	probably null
R7935:Tpd52l1	UTSW	10	31,338,205 (GRCm38)	missense	probably damaging	0.99
R8010:Tpd52l1	UTSW	10	31,358,013 (GRCm38)	missense	possibly damaging	0.89
R8011:Tpd52l1	UTSW	10	31,332,917 (GRCm38)	missense	probably benign
R8835:Tpd52l1	UTSW	10	31,379,318 (GRCm38)	missense	probably benign	0.04
R9321:Tpd52l1	UTSW	10	31,338,193 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- AGAGCCCAACTAGATGCTCTCATGAT -3'
(R):5'- GAGTCTTTAGGGTTGCAGAAATGGACA -3'

Sequencing Primer
(F):5'- tgttcttgccccagattcc -3'
(R):5'- GACAATGGCTGAATGCATAATCC -3'

Posted On

2013-05-09