Mutagenetix > Incidental Mutation

Incidental Mutation 'R1077:Tex14'

85693

Institutional Source

Beutler Lab

Gene Symbol

Tex14

Ensembl Gene

ENSMUSG00000010342

Gene Name

testis expressed gene 14

Synonyms

MMRRC Submission

039163-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R1077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87295891-87446649 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 87410571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000054444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060835]

AlphaFold

Q7M6U3

Predicted Effect

probably benign
Transcript: ENSMUST00000060835

SMART Domains

Protein: ENSMUSP00000054444
Gene: ENSMUSG00000010342

Domain	Start	End	E-Value	Type
ANK	22	51	7.99e2	SMART
ANK	55	84	6.36e-3	SMART
ANK	88	117	3.49e0	SMART
Pfam:Pkinase	251	504	3.5e-19	PFAM
Pfam:Pkinase_Tyr	254	503	8.1e-28	PFAM
coiled coil region	659	684	N/A	INTRINSIC
coiled coil region	740	776	N/A	INTRINSIC
low complexity region	1219	1236	N/A	INTRINSIC
coiled coil region	1289	1309	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (40/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: Males homozygous for a targeted allele are infertile due to spermatogenic failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	T	C	9: 114,130,770 (GRCm39)		noncoding transcript	Het
Apob	A	G	12: 8,056,017 (GRCm39)	K1500E	probably benign	Het
Atp8b1	A	T	18: 64,706,333 (GRCm39)	Y225*	probably null	Het
Cdc25c	A	T	18: 34,882,026 (GRCm39)		probably benign	Het
Ceacam15	T	C	7: 16,406,000 (GRCm39)	N184D	probably benign	Het
Cntln	T	C	4: 84,914,716 (GRCm39)	S508P	probably damaging	Het
Defa41	T	A	8: 21,692,449 (GRCm39)	F90Y	probably benign	Het
Dhx34	A	G	7: 15,952,293 (GRCm39)	S111P	probably damaging	Het
Dst	A	G	1: 34,203,248 (GRCm39)	E759G	probably damaging	Het
Fis1	G	A	5: 136,994,000 (GRCm39)	A28T	probably damaging	Het
Fsd1	T	C	17: 56,297,542 (GRCm39)		probably null	Het
Grk6	T	C	13: 55,602,340 (GRCm39)		probably null	Het
Il23r	A	T	6: 67,450,794 (GRCm39)	H228Q	probably benign	Het
Kcnh4	C	T	11: 100,643,164 (GRCm39)	V368I	possibly damaging	Het
Kdr	T	C	5: 76,116,891 (GRCm39)	E728G	probably damaging	Het
Krt33a	T	A	11: 99,906,763 (GRCm39)	M71L	probably benign	Het
Lrrc7	T	G	3: 157,866,780 (GRCm39)	D987A	probably damaging	Het
Naalad2	C	T	9: 18,258,802 (GRCm39)	R491Q	probably damaging	Het
Nedd4l	A	T	18: 65,300,570 (GRCm39)		probably benign	Het
Pramel7	A	G	2: 87,321,534 (GRCm39)	L167S	probably damaging	Het
Prkci	A	G	3: 31,104,341 (GRCm39)	D568G	probably damaging	Het
Psg18	G	A	7: 18,085,000 (GRCm39)	T32I	possibly damaging	Het
Ric8b	T	A	10: 84,806,581 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,376,824 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,082,373 (GRCm39)	V1433A	probably damaging	Het
Sbf2	A	T	7: 109,966,379 (GRCm39)		probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sfta2	T	C	17: 35,961,019 (GRCm39)		probably benign	Het
Slc17a1	T	A	13: 24,062,433 (GRCm39)		probably benign	Het
Slc6a21	G	A	7: 44,937,626 (GRCm39)	C314Y	probably benign	Het
Smpd4	T	C	16: 17,441,833 (GRCm39)	V35A	probably damaging	Het
Sorl1	T	C	9: 41,925,786 (GRCm39)	D1182G	probably damaging	Het
Syne2	A	G	12: 76,088,809 (GRCm39)	I5056V	possibly damaging	Het
Tex44	A	G	1: 86,354,777 (GRCm39)	T229A	probably benign	Het
Tfap2b	T	A	1: 19,304,373 (GRCm39)	C394*	probably null	Het
Ttk	T	A	9: 83,726,202 (GRCm39)		probably benign	Het
Vmn2r26	G	A	6: 124,030,872 (GRCm39)	V536I	probably benign	Het
Wac	A	G	18: 7,921,916 (GRCm39)	T553A	probably damaging	Het
Wdcp	T	A	12: 4,900,685 (GRCm39)	H180Q	probably damaging	Het
Wdr33	A	G	18: 31,968,514 (GRCm39)	H235R	probably benign	Het

Other mutations in Tex14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Tex14	APN	11	87,426,469 (GRCm39)	missense	probably damaging	0.98
IGL00494:Tex14	APN	11	87,446,310 (GRCm39)	missense	probably damaging	1.00
IGL01604:Tex14	APN	11	87,400,524 (GRCm39)	missense	possibly damaging	0.63
IGL02690:Tex14	APN	11	87,377,100 (GRCm39)	missense	probably benign	0.11
IGL02888:Tex14	APN	11	87,418,738 (GRCm39)	critical splice donor site	probably null
IGL03073:Tex14	APN	11	87,426,435 (GRCm39)	missense	probably damaging	0.99
IGL03109:Tex14	APN	11	87,434,191 (GRCm39)	missense	probably damaging	1.00
IGL03047:Tex14	UTSW	11	87,427,530 (GRCm39)	missense	probably damaging	1.00
R0141:Tex14	UTSW	11	87,383,857 (GRCm39)	splice site	probably null
R0455:Tex14	UTSW	11	87,405,131 (GRCm39)	missense	possibly damaging	0.93
R0624:Tex14	UTSW	11	87,411,525 (GRCm39)	missense	probably benign	0.19
R0718:Tex14	UTSW	11	87,390,439 (GRCm39)	missense	probably benign	0.20
R1118:Tex14	UTSW	11	87,413,343 (GRCm39)	missense	probably benign	0.07
R1120:Tex14	UTSW	11	87,429,502 (GRCm39)	splice site	probably benign
R1168:Tex14	UTSW	11	87,427,568 (GRCm39)	missense	probably benign	0.11
R1190:Tex14	UTSW	11	87,385,934 (GRCm39)	splice site	probably null
R1470:Tex14	UTSW	11	87,440,355 (GRCm39)	splice site	probably benign
R1563:Tex14	UTSW	11	87,427,634 (GRCm39)	missense	probably damaging	0.99
R1607:Tex14	UTSW	11	87,445,754 (GRCm39)	missense	probably damaging	1.00
R1696:Tex14	UTSW	11	87,402,371 (GRCm39)	missense	possibly damaging	0.49
R1873:Tex14	UTSW	11	87,390,431 (GRCm39)	missense	probably damaging	1.00
R1894:Tex14	UTSW	11	87,365,274 (GRCm39)	missense	probably damaging	1.00
R1911:Tex14	UTSW	11	87,385,861 (GRCm39)	missense	probably damaging	1.00
R1955:Tex14	UTSW	11	87,400,447 (GRCm39)	missense	probably damaging	1.00
R1971:Tex14	UTSW	11	87,402,431 (GRCm39)	missense	probably damaging	1.00
R1990:Tex14	UTSW	11	87,440,296 (GRCm39)	missense	probably damaging	1.00
R1991:Tex14	UTSW	11	87,440,296 (GRCm39)	missense	probably damaging	1.00
R1993:Tex14	UTSW	11	87,427,581 (GRCm39)	missense	possibly damaging	0.57
R2106:Tex14	UTSW	11	87,377,076 (GRCm39)	missense	possibly damaging	0.47
R2118:Tex14	UTSW	11	87,410,569 (GRCm39)	splice site	probably benign
R2860:Tex14	UTSW	11	87,365,243 (GRCm39)	missense	probably damaging	1.00
R2861:Tex14	UTSW	11	87,365,243 (GRCm39)	missense	probably damaging	1.00
R4016:Tex14	UTSW	11	87,429,449 (GRCm39)	splice site	probably null
R4089:Tex14	UTSW	11	87,403,029 (GRCm39)	missense	probably damaging	1.00
R4158:Tex14	UTSW	11	87,407,595 (GRCm39)	missense	probably benign	0.06
R4533:Tex14	UTSW	11	87,427,655 (GRCm39)	nonsense	probably null
R4713:Tex14	UTSW	11	87,427,691 (GRCm39)	missense	probably damaging	0.99
R4758:Tex14	UTSW	11	87,405,311 (GRCm39)	missense	probably benign	0.00
R4880:Tex14	UTSW	11	87,377,121 (GRCm39)	missense	possibly damaging	0.95
R4953:Tex14	UTSW	11	87,427,727 (GRCm39)	critical splice donor site	probably null
R5092:Tex14	UTSW	11	87,405,668 (GRCm39)	missense	probably benign	0.03
R5119:Tex14	UTSW	11	87,324,639 (GRCm39)	missense	probably damaging	1.00
R5322:Tex14	UTSW	11	87,402,298 (GRCm39)	missense	probably benign	0.04
R5470:Tex14	UTSW	11	87,442,430 (GRCm39)	missense	probably damaging	0.99
R5607:Tex14	UTSW	11	87,413,404 (GRCm39)	missense	probably benign	0.00
R5642:Tex14	UTSW	11	87,405,046 (GRCm39)	missense	probably benign
R5643:Tex14	UTSW	11	87,426,452 (GRCm39)	missense	probably damaging	1.00
R5786:Tex14	UTSW	11	87,405,121 (GRCm39)	missense	probably damaging	0.97
R6478:Tex14	UTSW	11	87,405,199 (GRCm39)	missense	probably benign
R6560:Tex14	UTSW	11	87,388,688 (GRCm39)	missense	possibly damaging	0.95
R6661:Tex14	UTSW	11	87,385,842 (GRCm39)	missense	probably damaging	1.00
R7037:Tex14	UTSW	11	87,388,741 (GRCm39)	missense	probably damaging	1.00
R7156:Tex14	UTSW	11	87,375,545 (GRCm39)	missense	probably damaging	0.99
R7465:Tex14	UTSW	11	87,405,256 (GRCm39)	missense	possibly damaging	0.48
R7675:Tex14	UTSW	11	87,400,504 (GRCm39)	missense	probably damaging	1.00
R7725:Tex14	UTSW	11	87,385,868 (GRCm39)	missense	probably damaging	0.99
R7911:Tex14	UTSW	11	87,424,428 (GRCm39)	critical splice donor site	probably null
R8015:Tex14	UTSW	11	87,400,426 (GRCm39)	missense	probably benign	0.13
R8226:Tex14	UTSW	11	87,375,585 (GRCm39)	missense	probably damaging	0.96
R8283:Tex14	UTSW	11	87,365,241 (GRCm39)	missense	probably damaging	1.00
R8292:Tex14	UTSW	11	87,388,664 (GRCm39)	missense	probably damaging	1.00
R8833:Tex14	UTSW	11	87,383,878 (GRCm39)	missense	probably benign	0.22
R8932:Tex14	UTSW	11	87,324,675 (GRCm39)	missense	possibly damaging	0.65
R9023:Tex14	UTSW	11	87,365,239 (GRCm39)	missense
R9144:Tex14	UTSW	11	87,413,423 (GRCm39)	critical splice donor site	probably null
R9610:Tex14	UTSW	11	87,377,084 (GRCm39)	missense	probably damaging	1.00
R9611:Tex14	UTSW	11	87,377,084 (GRCm39)	missense	probably damaging	1.00
RF018:Tex14	UTSW	11	87,405,572 (GRCm39)	missense	probably benign	0.01
X0017:Tex14	UTSW	11	87,426,375 (GRCm39)	nonsense	probably null
Z1176:Tex14	UTSW	11	87,390,419 (GRCm39)	missense	possibly damaging	0.95
Z1176:Tex14	UTSW	11	87,375,633 (GRCm39)	missense	probably benign	0.08
Z1177:Tex14	UTSW	11	87,404,981 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGTCAGTGCGTCAACTAGGAGTAGG -3'
(R):5'- TGTGCTAGATTTAAAAGGCACGCCC -3'

Sequencing Primer
(F):5'- CGTCAACTAGGAGTAGGGAAGG -3'
(R):5'- GGTTCACACCCAGAACCATAAAAC -3'

Posted On

2013-11-18