Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02528:Tex52'

297189

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tex52

Ensembl Gene

ENSMUSG00000079304

Gene Name

testis expressed 52

Synonyms

4933413G19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL02528

Quality Score

Status

Chromosome

Chromosomal Location

128352473-128362107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128356460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 51 (E51G)

Ref Sequence

ENSEMBL: ENSMUSP00000145112 (fasta)

Gene Model

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

AlphaFold

Q3TTI8

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

possibly damaging
Transcript: ENSMUST00000100926
AA Change: E51G

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098486
Gene: ENSMUSG00000079304
AA Change: E51G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130785
AA Change: E51G

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145112
Gene: ENSMUSG00000079304
AA Change: E51G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	A	6: 65,930,357 (GRCm39)		probably benign	Het
4933416I08Rik	T	A	X: 52,580,792 (GRCm39)	N54I	probably damaging	Het
Abcc2	A	G	19: 43,786,943 (GRCm39)	D188G	probably benign	Het
Akap11	T	C	14: 78,748,307 (GRCm39)	Y1360C	probably damaging	Het
Bltp2	T	C	11: 78,162,802 (GRCm39)	V888A	possibly damaging	Het
C920021L13Rik	A	G	3: 95,794,628 (GRCm39)		probably benign	Het
Ccdc89	A	T	7: 90,076,819 (GRCm39)	Q343L	probably damaging	Het
Cep350	A	T	1: 155,770,361 (GRCm39)	M1843K	probably damaging	Het
Ces2b	T	C	8: 105,561,601 (GRCm39)	S232P	probably damaging	Het
Eprs1	G	T	1: 185,145,686 (GRCm39)	R1165L	probably damaging	Het
Ercc5	A	G	1: 44,206,962 (GRCm39)	E625G	probably benign	Het
Evi5l	T	C	8: 4,243,172 (GRCm39)	V352A	probably benign	Het
Ggt5	T	C	10: 75,446,254 (GRCm39)		probably benign	Het
Gm11564	T	A	11: 99,706,293 (GRCm39)	R46*	probably null	Het
Herc2	A	G	7: 55,758,641 (GRCm39)		probably benign	Het
Kash5	T	C	7: 44,833,170 (GRCm39)		probably benign	Het
Kcnh8	A	G	17: 53,110,556 (GRCm39)	S256G	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Mast4	T	C	13: 102,990,331 (GRCm39)	*255W	probably null	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Noxa1	A	G	2: 24,980,645 (GRCm39)		probably benign	Het
Nsd2	T	C	5: 34,036,395 (GRCm39)		probably benign	Het
Pcna-ps2	A	T	19: 9,261,331 (GRCm39)	I197L	probably benign	Het
Pde8a	A	G	7: 80,942,937 (GRCm39)		probably benign	Het
Polr1a	C	A	6: 71,941,701 (GRCm39)	Q1070K	probably benign	Het
Pum2	G	T	12: 8,778,696 (GRCm39)	G449*	probably null	Het
Rab29	T	C	1: 131,797,749 (GRCm39)		probably benign	Het
Rpap1	T	A	2: 119,605,431 (GRCm39)		probably null	Het
Scn7a	A	G	2: 66,530,519 (GRCm39)	Y609H	probably damaging	Het
Slit3	T	C	11: 35,469,801 (GRCm39)	S268P	probably benign	Het
Stat2	C	T	10: 128,126,534 (GRCm39)	T753I	probably benign	Het
Susd6	T	C	12: 80,916,945 (GRCm39)	V160A	probably damaging	Het
Tmem102	T	A	11: 69,694,532 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,720,582 (GRCm39)		probably benign	Het
Ubtd2	T	A	11: 32,449,249 (GRCm39)	L32*	probably null	Het
Usp38	T	C	8: 81,719,864 (GRCm39)	Y455C	probably damaging	Het
Wwp2	T	C	8: 108,281,099 (GRCm39)	F671L	probably benign	Het
Xlr3a	T	C	X: 72,138,573 (GRCm39)	N29D	possibly damaging	Het
Zan	T	C	5: 137,463,403 (GRCm39)	E592G	possibly damaging	Het
Zmat4	T	A	8: 24,505,212 (GRCm39)	S151T	probably damaging	Het
Znfx1	T	C	2: 166,892,324 (GRCm39)	T631A	probably benign	Het

Other mutations in Tex52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03304:Tex52	APN	6	128,356,495 (GRCm39)	missense	possibly damaging	0.55
R0384:Tex52	UTSW	6	128,356,496 (GRCm39)	missense	probably damaging	1.00
R0462:Tex52	UTSW	6	128,361,917 (GRCm39)	missense	probably benign
R2398:Tex52	UTSW	6	128,356,540 (GRCm39)	missense	probably damaging	1.00
R2413:Tex52	UTSW	6	128,356,871 (GRCm39)	missense	probably damaging	1.00
R4856:Tex52	UTSW	6	128,361,951 (GRCm39)	splice site	probably null
R5230:Tex52	UTSW	6	128,361,779 (GRCm39)	missense	probably damaging	1.00
R5666:Tex52	UTSW	6	128,352,518 (GRCm39)	missense	probably benign	0.01
R5864:Tex52	UTSW	6	128,356,645 (GRCm39)	missense	probably benign	0.10
R7685:Tex52	UTSW	6	128,361,921 (GRCm39)	splice site	probably null
R8527:Tex52	UTSW	6	128,356,828 (GRCm39)	missense	probably benign	0.38
R9740:Tex52	UTSW	6	128,356,673 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16