Mutagenetix > Incidental Mutations

Incidental Mutation 'R2413:Tex52'

250060

Institutional Source

Beutler Lab

Gene Symbol

Tex52

Ensembl Gene

ENSMUSG00000079304

Gene Name

testis expressed 52

Synonyms

4933413G19Rik

MMRRC Submission

040377-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128375456-128385144 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128379908 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 188 (L188P)

Ref Sequence

ENSEMBL: ENSMUSP00000145112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073316] [ENSMUST00000100926] [ENSMUST00000130785] [ENSMUST00000204223]

Predicted Effect

probably benign
Transcript: ENSMUST00000073316

SMART Domains

Protein: ENSMUSP00000073041
Gene: ENSMUSG00000001517

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	35	55	N/A	INTRINSIC
low complexity region	110	126	N/A	INTRINSIC
low complexity region	140	158	N/A	INTRINSIC
FH	232	319	2.86e-42	SMART
low complexity region	429	454	N/A	INTRINSIC
low complexity region	504	515	N/A	INTRINSIC
low complexity region	533	546	N/A	INTRINSIC
low complexity region	685	702	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100926
AA Change: L188P

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

SMART Domains

Protein: ENSMUSP00000098486
Gene: ENSMUSG00000079304
AA Change: L188P

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
Pfam:DUF4532	28	306	1.9e-158	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000130785
AA Change: L188P

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

SMART Domains

Protein: ENSMUSP00000145112
Gene: ENSMUSG00000079304
AA Change: L188P

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
Pfam:DUF4532	28	223	3.9e-108	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203779

Predicted Effect

probably benign
Transcript: ENSMUST00000204223

SMART Domains

Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	190	201	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	T	8: 88,309,818	A168S	probably benign	Het
Aspm	A	C	1: 139,477,757	I1461L	probably damaging	Het
Bcas3	C	T	11: 85,531,855	L517F	probably damaging	Het
Brpf3	T	C	17: 28,805,950		probably benign	Het
Cfap74	A	C	4: 155,418,624	R24S	possibly damaging	Het
Clec1a	T	A	6: 129,435,255	S51C	probably damaging	Het
Cyp2c40	G	T	19: 39,803,887	C204*	probably null	Het
Dgki	C	A	6: 36,847,473	R1040L	possibly damaging	Het
F830016B08Rik	T	A	18: 60,300,293	Y149*	probably null	Het
Fam43b	G	C	4: 138,395,098	R304G	probably benign	Het
Frmpd1	A	T	4: 45,278,969	T565S	probably benign	Het
Heatr5b	A	T	17: 78,756,861		probably null	Het
Ipcef1	G	A	10: 6,935,225	P92S	probably damaging	Het
Kctd12	T	A	14: 102,982,167	I92F	probably damaging	Het
Kntc1	C	T	5: 123,764,149	T285I	probably benign	Het
Lipo2	A	T	19: 33,751,257	N32K	probably damaging	Het
Mier3	T	C	13: 111,715,128		probably benign	Het
Myd88	T	C	9: 119,337,418	T277A	probably benign	Het
Myo3a	T	A	2: 22,577,912	Y1331N	probably benign	Het
Neb	C	A	2: 52,210,632	W4422L	probably damaging	Het
Nfasc	A	G	1: 132,595,505	S1019P	probably damaging	Het
Npepps	T	C	11: 97,240,966	E354G	probably damaging	Het
Ntrk2	G	T	13: 58,874,412	R427L	possibly damaging	Het
Olfr578	A	G	7: 102,984,802	S121P	probably damaging	Het
Ptprd	T	A	4: 76,133,200	D262V	probably damaging	Het
Serpina9	C	T	12: 104,001,226		probably null	Het
Setd2	A	G	9: 110,547,504	E129G	probably damaging	Het
Slc29a1	A	G	17: 45,585,717	L444P	probably damaging	Het
Synj2	C	A	17: 6,028,574	P217T	probably damaging	Het
Tmem63a	A	G	1: 180,961,075	M326V	probably benign	Het
Tnxb	A	G	17: 34,718,278	T2900A	probably damaging	Het

Other mutations in Tex52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02528:Tex52	APN	6	128379497	missense	possibly damaging	0.60
IGL03304:Tex52	APN	6	128379532	missense	possibly damaging	0.55
R0384:Tex52	UTSW	6	128379533	missense	probably damaging	1.00
R0462:Tex52	UTSW	6	128384954	missense	probably benign
R2398:Tex52	UTSW	6	128379577	missense	probably damaging	1.00
R4856:Tex52	UTSW	6	128384988	unclassified	probably null
R5230:Tex52	UTSW	6	128384816	missense	probably damaging	1.00
R5666:Tex52	UTSW	6	128375555	missense	probably benign	0.01
R5864:Tex52	UTSW	6	128379682	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CATTTGACTCACGCCAATGC -3'
(R):5'- ATGGGTTCCTGCCATACAAAAG -3'

Sequencing Primer
(F):5'- GCCAATGCCCACCGTCTC -3'
(R):5'- CACAGGTAGCCACGAGTG -3'

Posted On

2014-11-12