Mutagenetix > Incidental Mutation

Incidental Mutation 'R3612:Tex24'

269259

Institutional Source

Beutler Lab

Gene Symbol

Tex24

Ensembl Gene

ENSMUSG00000071138

Gene Name

testis expressed gene 24

Synonyms

1700108N07Rik, TESF-1

MMRRC Submission

040672-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R3612 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27834422-27839216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27835201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 243 (V243D)

Ref Sequence

ENSEMBL: ENSMUSP00000093021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095375]

AlphaFold

Q5DP50

Predicted Effect

probably benign
Transcript: ENSMUST00000095375
AA Change: V243D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,580,251 (GRCm39)	V192A	probably damaging	Het
Acsm2	G	C	7: 119,190,553 (GRCm39)	V90L	probably damaging	Het
Adam5	T	C	8: 25,308,105 (GRCm39)		probably benign	Het
Ankrd12	A	T	17: 66,290,542 (GRCm39)	D1630E	probably benign	Het
Ccdc88c	A	T	12: 100,905,332 (GRCm39)	I1085N	probably damaging	Het
Cdc42bpb	A	G	12: 111,270,256 (GRCm39)		probably benign	Het
Cdh19	A	T	1: 110,821,026 (GRCm39)	C571S	probably damaging	Het
Cep290	T	A	10: 100,377,443 (GRCm39)	L1491*	probably null	Het
Cherp	G	A	8: 73,215,840 (GRCm39)		probably benign	Het
Diaph3	T	C	14: 87,274,893 (GRCm39)	S188G	probably null	Het
Ech1	C	T	7: 28,529,668 (GRCm39)	R34C	probably damaging	Het
Erc2	T	C	14: 27,499,134 (GRCm39)	S337P	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fah	A	G	7: 84,234,498 (GRCm39)	V412A	probably damaging	Het
Gatc	T	A	5: 115,473,545 (GRCm39)	E131D	probably benign	Het
Glrb	A	G	3: 80,769,337 (GRCm39)	V130A	possibly damaging	Het
Gm4782	T	A	6: 50,585,610 (GRCm39)		probably null	Het
Klhl1	C	T	14: 96,619,206 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo15a	G	C	11: 60,368,505 (GRCm39)	D422H	probably damaging	Het
Ncapd3	T	A	9: 26,961,653 (GRCm39)	H360Q	probably damaging	Het
Or1e22	T	C	11: 73,376,766 (GRCm39)	R295G	probably benign	Het
Ppargc1b	T	C	18: 61,443,627 (GRCm39)	N528S	probably benign	Het
Rprd2	G	A	3: 95,671,464 (GRCm39)	P1313L	probably damaging	Het
Slc12a7	C	A	13: 73,958,042 (GRCm39)	D955E	probably benign	Het
Slc9a2	G	A	1: 40,758,218 (GRCm39)		probably null	Het
Vmn2r17	A	G	5: 109,577,463 (GRCm39)	T505A	probably benign	Het
Vps37a	T	C	8: 40,997,977 (GRCm39)		probably benign	Het
Zmynd19	A	G	2: 24,841,492 (GRCm39)	Y20C	probably damaging	Het

Other mutations in Tex24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0470:Tex24	UTSW	8	27,834,936 (GRCm39)	nonsense	probably null
R0744:Tex24	UTSW	8	27,834,748 (GRCm39)	missense	possibly damaging	0.92
R0836:Tex24	UTSW	8	27,834,748 (GRCm39)	missense	possibly damaging	0.92
R2260:Tex24	UTSW	8	27,834,883 (GRCm39)	missense	probably damaging	0.99
R6805:Tex24	UTSW	8	27,835,028 (GRCm39)	missense	probably damaging	0.98
R8701:Tex24	UTSW	8	27,835,152 (GRCm39)	missense	probably benign	0.00
R8712:Tex24	UTSW	8	27,834,652 (GRCm39)	missense	possibly damaging	0.82
R9152:Tex24	UTSW	8	27,835,379 (GRCm39)	missense	possibly damaging	0.94
Z1177:Tex24	UTSW	8	27,835,338 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGATATCAGACAGCTCCCGAAG -3'
(R):5'- TGAGAGGTCCCAGTCTTCTG -3'

Sequencing Primer
(F):5'- CCCGAAGCAAGAGGTGTTTATTAAC -3'
(R):5'- GAGGTCCCAGTCTTCTGCCTTTG -3'

Posted On

2015-02-19