Mutagenetix > Incidental Mutation

Incidental Mutation 'R6332:Tpd52l1'

513182

Institutional Source

Beutler Lab

Gene Symbol

Tpd52l1

Ensembl Gene

ENSMUSG00000000296

Gene Name

tumor protein D52-like 1

Synonyms

D53

MMRRC Submission

044486-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6332 (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 31214203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 142 (E142G)

Ref Sequence

ENSEMBL: ENSMUSP00000150184 (fasta)

Gene Model

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

AlphaFold

O54818

Predicted Effect

probably damaging
Transcript: ENSMUST00000000305
AA Change: E155G

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

SMART Domains

Protein: ENSMUSP00000000305
Gene: ENSMUSG00000000296
AA Change: E155G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213528
AA Change: E160G

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213639
AA Change: E142G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214644

Predicted Effect

probably benign
Transcript: ENSMUST00000215515

Meta Mutation Damage Score

0.2239

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	C	A	7: 42,095,667 (GRCm39)	G194C	possibly damaging	Het
Adamtsl1	A	G	4: 86,135,248 (GRCm39)	K258E	probably damaging	Het
Afdn	A	T	17: 14,030,707 (GRCm39)	D206V	possibly damaging	Het
Agt	G	T	8: 125,284,572 (GRCm39)	Q389K	possibly damaging	Het
Ankrd44	A	T	1: 54,801,432 (GRCm39)	D298E	probably damaging	Het
Anks1	A	G	17: 28,271,709 (GRCm39)	S897G	probably benign	Het
Apol9b	A	G	15: 77,619,746 (GRCm39)		probably null	Het
Baz1a	T	C	12: 54,965,339 (GRCm39)	E705G	probably benign	Het
BC048679	C	T	7: 81,144,966 (GRCm39)	V126M	probably benign	Het
Cep295	A	G	9: 15,246,210 (GRCm39)	F749L	possibly damaging	Het
Cntrl	T	A	2: 35,018,036 (GRCm39)	I482K	possibly damaging	Het
Col6a3	A	G	1: 90,749,955 (GRCm39)	F293S	probably damaging	Het
Dnah12	T	G	14: 26,439,129 (GRCm39)	M527R	probably damaging	Het
Dnhd1	G	A	7: 105,343,273 (GRCm39)	R1539H	probably benign	Het
Ece1	A	G	4: 137,685,319 (GRCm39)	Y603C	probably damaging	Het
Eea1	G	A	10: 95,877,335 (GRCm39)	A1350T	possibly damaging	Het
Exoc3l4	A	T	12: 111,394,402 (GRCm39)	K507N	possibly damaging	Het
Flt3l	A	T	7: 44,783,091 (GRCm39)		probably null	Het
Fn1	T	C	1: 71,667,230 (GRCm39)	Q834R	probably benign	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hycc2	T	A	1: 58,569,034 (GRCm39)	Y515F	probably damaging	Het
Ifih1	T	C	2: 62,469,827 (GRCm39)	N157D	possibly damaging	Het
Itga2	A	C	13: 114,980,009 (GRCm39)	M1064R	probably benign	Het
Itgae	A	G	11: 73,002,228 (GRCm39)		probably null	Het
Krtap10-4	T	C	10: 77,662,883 (GRCm39)		probably benign	Het
Lamp3	A	G	16: 19,518,431 (GRCm39)	C269R	probably damaging	Het
Lrp5	T	C	19: 3,709,355 (GRCm39)	D125G	probably damaging	Het
Matn2	A	C	15: 34,423,901 (GRCm39)	E586D	probably benign	Het
Mef2b	T	A	8: 70,616,789 (GRCm39)		probably null	Het
Mrps22	A	G	9: 98,483,524 (GRCm39)		probably null	Het
Mtmr2	T	C	9: 13,711,325 (GRCm39)	F445L	probably damaging	Het
Nxph4	A	G	10: 127,362,237 (GRCm39)	V218A	probably damaging	Het
Or1e23	A	G	11: 73,408,001 (GRCm39)	V8A	probably benign	Het
Or4f57	C	T	2: 111,791,091 (GRCm39)	G109D	probably damaging	Het
Or51k1	A	G	7: 103,660,980 (GRCm39)	S310P	probably benign	Het
Pdpk1	A	T	17: 24,325,896 (GRCm39)	V100D	probably damaging	Het
Phldb2	A	C	16: 45,594,609 (GRCm39)	S899A	probably benign	Het
Pnpla3	G	A	15: 84,056,983 (GRCm39)		probably null	Het
Rasal2	A	G	1: 157,126,757 (GRCm39)	Y94H	probably damaging	Het
Rlf	A	T	4: 121,006,019 (GRCm39)	I987N	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rprd2	A	G	3: 95,687,753 (GRCm39)	Y300H	probably damaging	Het
Setbp1	G	A	18: 78,826,584 (GRCm39)	S1343L	probably benign	Het
Sfswap	A	G	5: 129,648,105 (GRCm39)	K938E	possibly damaging	Het
Shld2	A	G	14: 33,990,129 (GRCm39)	V259A	probably benign	Het
Slc3a1	A	C	17: 85,335,860 (GRCm39)	M1L	probably damaging	Het
Slco5a1	C	T	1: 12,991,409 (GRCm39)	V427I	probably benign	Het
Ssbp2	A	T	13: 91,839,027 (GRCm39)	M300L	probably benign	Het
Ssc5d	A	G	7: 4,940,521 (GRCm39)	D878G	probably damaging	Het
Stk19	A	G	17: 35,043,574 (GRCm39)	L212P	probably damaging	Het
Stk39	T	C	2: 68,240,387 (GRCm39)	M115V	possibly damaging	Het
Syt17	A	C	7: 118,033,466 (GRCm39)	S181A	probably benign	Het
Taar7b	A	T	10: 23,875,849 (GRCm39)	N5Y	probably benign	Het
Tmc4	A	G	7: 3,680,421 (GRCm39)		probably null	Het
Tmem248	T	A	5: 130,258,310 (GRCm39)	M1K	probably null	Het
Tmem82	T	A	4: 141,343,721 (GRCm39)	Q183L	probably damaging	Het
Ttll2	A	T	17: 7,619,167 (GRCm39)	H253Q	probably damaging	Het
Ttn	T	C	2: 76,687,808 (GRCm39)		probably benign	Het
Ubd	A	G	17: 37,506,392 (GRCm39)	K93E	probably benign	Het
Ugt2b35	T	A	5: 87,149,415 (GRCm39)	F222Y	probably damaging	Het
Vmn2r10	G	T	5: 109,151,328 (GRCm39)	N95K	probably damaging	Het
Vwa8	T	C	14: 79,434,904 (GRCm39)	V1775A	probably benign	Het
Zdbf2	A	G	1: 63,346,981 (GRCm39)	K1787E	possibly damaging	Het
Zfp26	A	T	9: 20,348,582 (GRCm39)	F661I	probably damaging	Het
Zfp735	A	T	11: 73,602,504 (GRCm39)	K483*	probably null	Het
Zfp946	A	G	17: 22,673,519 (GRCm39)	E91G	probably damaging	Het
Zic5	C	A	14: 122,697,161 (GRCm39)	D485Y	unknown	Het
Zmynd8	A	T	2: 165,680,772 (GRCm39)	D236E	probably 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
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
R9321:Tpd52l1	UTSW	10	31,214,189 (GRCm39)	missense

Predicted Primers

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

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

Posted On

2018-04-27