Mutagenetix > Incidental Mutation

Incidental Mutation 'R5230:Tex52'

403714

Institutional Source

Beutler Lab

Gene Symbol

Tex52

Ensembl Gene

ENSMUSG00000079304

Gene Name

testis expressed 52

Synonyms

4933413G19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5230 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128352473-128362107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128361779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 252 (E252G)

Ref Sequence

ENSEMBL: ENSMUSP00000098486 (fasta)

Gene Model

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

AlphaFold

Q3TTI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000100926
AA Change: E252G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098486
Gene: ENSMUSG00000079304
AA Change: E252G

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 benign
Transcript: ENSMUST00000130785

SMART Domains

Protein: ENSMUSP00000145112
Gene: ENSMUSG00000079304

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

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,651,820 (GRCm39)	N1296S	probably damaging	Het
Abca5	A	T	11: 110,210,686 (GRCm39)	D164E	probably benign	Het
Adamts5	T	C	16: 85,666,956 (GRCm39)	D512G	probably damaging	Het
Ankrd11	G	A	8: 123,617,216 (GRCm39)	T2191I	probably benign	Het
Anxa3	T	C	5: 96,986,171 (GRCm39)	F270S	possibly damaging	Het
Bard1	A	G	1: 71,092,770 (GRCm39)		probably null	Het
Ccdc142	T	C	6: 83,084,777 (GRCm39)	V591A	probably damaging	Het
Col6a3	C	T	1: 90,716,776 (GRCm39)	E1613K	unknown	Het
Dnah9	T	A	11: 65,975,492 (GRCm39)	H1519L	probably damaging	Het
Egf	T	C	3: 129,511,673 (GRCm39)	D498G	possibly damaging	Het
Enah	A	C	1: 181,763,235 (GRCm39)		probably benign	Het
Fat3	A	T	9: 15,901,856 (GRCm39)	N3056K	possibly damaging	Het
Gm4846	T	A	1: 166,317,748 (GRCm39)	N223Y	probably benign	Het
Gm8104	A	G	14: 42,958,975 (GRCm39)	N55S	probably damaging	Het
Gpatch8	A	G	11: 102,370,404 (GRCm39)	S1045P	probably damaging	Het
Haus4	A	G	14: 54,781,251 (GRCm39)	M275T	probably benign	Het
Ighe	T	A	12: 113,235,006 (GRCm39)	T385S	unknown	Het
Ipo9	G	A	1: 135,347,808 (GRCm39)	S78L	probably damaging	Het
Kif21b	G	A	1: 136,099,411 (GRCm39)	V1473M	probably damaging	Het
Lama1	T	A	17: 68,052,078 (GRCm39)	Y345*	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Loxl3	A	G	6: 83,012,775 (GRCm39)	T105A	probably benign	Het
Map4k3	A	G	17: 80,922,599 (GRCm39)	S441P	probably benign	Het
Med12l	C	T	3: 59,153,209 (GRCm39)	T1078I	probably damaging	Het
Mef2c	T	A	13: 83,801,026 (GRCm39)	M242K	possibly damaging	Het
Morc2b	A	G	17: 33,355,226 (GRCm39)	Y849H	probably benign	Het
Mroh2b	T	A	15: 4,971,004 (GRCm39)	V1003E	probably benign	Het
Myo15a	T	A	11: 60,393,674 (GRCm39)	M1135K	possibly damaging	Het
Nckap1l	A	T	15: 103,392,066 (GRCm39)	I834F	probably benign	Het
Nrg1	T	A	8: 32,308,507 (GRCm39)	Y503F	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or4f61	A	T	2: 111,922,734 (GRCm39)	I104N	probably benign	Het
Pcdhga2	T	C	18: 37,802,795 (GRCm39)	V213A	probably benign	Het
Pdzd2	A	T	15: 12,390,119 (GRCm39)	M826K	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Rnf38	T	C	4: 44,149,176 (GRCm39)	Q57R	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serpina6	T	C	12: 103,618,157 (GRCm39)	T219A	probably benign	Het
Spata31d1c	T	A	13: 65,183,248 (GRCm39)	N263K	probably benign	Het
Spef2	T	G	15: 9,667,316 (GRCm39)	I791L	possibly damaging	Het
Sv2a	T	C	3: 96,092,776 (GRCm39)	C159R	probably damaging	Het
Tbc1d31	T	A	15: 57,824,315 (GRCm39)	L859Q	probably damaging	Het
Tecta	C	A	9: 42,306,239 (GRCm39)	R63L	probably damaging	Het
Tnfsf13b	A	G	8: 10,081,608 (GRCm39)	I257V	possibly damaging	Het
Tpk1	A	G	6: 43,400,653 (GRCm39)	L172P	probably damaging	Het
Trim3	T	G	7: 105,268,720 (GRCm39)	N78T	possibly damaging	Het
Try5	A	G	6: 41,289,312 (GRCm39)	V88A	probably benign	Het
Vmn1r222	T	G	13: 23,417,172 (GRCm39)	M14L	probably benign	Het
Wdr90	A	T	17: 26,074,277 (GRCm39)	V678E	probably benign	Het
Zan	A	G	5: 137,452,340 (GRCm39)	L1543P	unknown	Het

Other mutations in Tex52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02528:Tex52	APN	6	128,356,460 (GRCm39)	missense	possibly damaging	0.60
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
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

Predicted Primers

PCR Primer
(F):5'- CCCGAATAGCTGGTAGAAATCATC -3'
(R):5'- AAGCCCACCATGGTCTTCTC -3'

Sequencing Primer
(F):5'- AGCTGGTAGAAATCATCATCTCTCC -3'
(R):5'- GGTCTTCTCTTTCAGACATATCCAGG -3'

Posted On

2016-07-22