Mutagenetix > Incidental Mutation

Incidental Mutation 'R1120:Tex14'

95532

Institutional Source

Beutler Lab

Gene Symbol

Tex14

Ensembl Gene

ENSMUSG00000010342

Gene Name

testis expressed gene 14

Synonyms

MMRRC Submission

039193-MU

Accession Numbers

Essential gene?

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

Stock #

R1120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87295891-87446649 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 87429502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060835] [ENSMUST00000100657] [ENSMUST00000131973]

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124255

Predicted Effect

probably benign
Transcript: ENSMUST00000131973

SMART Domains

Protein: ENSMUSP00000117564
Gene: ENSMUSG00000010342

Domain	Start	End	E-Value	Type
low complexity region	39	56	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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
Abcb8	T	G	5: 24,613,818 (GRCm39)		probably null	Het
Akp3	A	T	1: 87,053,159 (GRCm39)	Q77L	probably damaging	Het
Blm	A	G	7: 80,131,214 (GRCm39)	L878S	probably damaging	Het
Cabin1	A	G	10: 75,561,550 (GRCm39)	Y984H	probably damaging	Het
Cadps2	T	C	6: 23,838,793 (GRCm39)	Q86R	probably damaging	Het
Cd2	C	T	3: 101,194,804 (GRCm39)	D95N	probably damaging	Het
Cd36	A	G	5: 17,990,826 (GRCm39)	I438T	possibly damaging	Het
Crhbp	G	T	13: 95,578,593 (GRCm39)	T176K	probably benign	Het
D630045J12Rik	G	T	6: 38,171,705 (GRCm39)	T821K	probably damaging	Het
Disp1	T	C	1: 182,880,139 (GRCm39)	D288G	probably benign	Het
Dsc3	A	G	18: 20,120,034 (GRCm39)	V208A	probably benign	Het
Eef1e1	A	T	13: 38,842,910 (GRCm39)	N20K	probably damaging	Het
Ercc5	A	G	1: 44,201,001 (GRCm39)	D187G	probably damaging	Het
Etl4	T	A	2: 20,811,514 (GRCm39)	M1199K	probably benign	Het
Fnbp1	A	T	2: 30,926,606 (GRCm39)	Y433N	probably damaging	Het
Fxyd3	A	G	7: 30,770,803 (GRCm39)		probably benign	Het
Hfm1	A	T	5: 107,052,084 (GRCm39)		probably benign	Het
Irak2	T	A	6: 113,652,720 (GRCm39)		probably benign	Het
Jpt2	T	C	17: 25,179,585 (GRCm39)	M1V	probably null	Het
Knl1	A	G	2: 118,892,856 (GRCm39)	R51G	probably damaging	Het
Krtap8-1	A	G	16: 89,284,753 (GRCm39)	Y15H	probably benign	Het
Lrba	A	T	3: 86,202,499 (GRCm39)	D250V	probably damaging	Het
Mgat4a	A	G	1: 37,491,662 (GRCm39)	S357P	probably damaging	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Or4a27	A	G	2: 88,559,281 (GRCm39)	Y221H	probably damaging	Het
Or4c109	A	G	2: 88,818,423 (GRCm39)	M41T	possibly damaging	Het
Or9k2	A	G	10: 129,998,406 (GRCm39)	L263P	probably damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pnpla8	A	G	12: 44,351,730 (GRCm39)	T568A	possibly damaging	Het
Ptprn	A	G	1: 75,234,825 (GRCm39)	I254T	probably benign	Het
Rab5b	A	C	10: 128,515,483 (GRCm39)	N188K	probably benign	Het
Samd5	A	G	10: 9,504,792 (GRCm39)	V154A	possibly damaging	Het
Smarcb1	A	G	10: 75,757,157 (GRCm39)	F25L	probably benign	Het
Smchd1	A	T	17: 71,665,141 (GRCm39)	Y1847*	probably null	Het
Smpd4	T	C	16: 17,456,350 (GRCm39)		probably benign	Het
Tnfrsf26	G	A	7: 143,171,651 (GRCm39)	R101C	probably damaging	Het
Trmu	A	G	15: 85,774,486 (GRCm39)	K37E	possibly damaging	Het
Tsen54	C	T	11: 115,705,839 (GRCm39)	A52V	probably damaging	Het
Ubb	T	C	11: 62,443,009 (GRCm39)	I13T	possibly damaging	Het
Vmn2r101	A	T	17: 19,797,723 (GRCm39)		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
R1077:Tex14	UTSW	11	87,410,571 (GRCm39)	splice site	probably benign
R1118:Tex14	UTSW	11	87,413,343 (GRCm39)	missense	probably benign	0.07
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'- GGCCTCGTGTGATTGCTAAATGCTC -3'
(R):5'- AGCTGGTGGTGGAAGCTCATCAAG -3'

Sequencing Primer
(F):5'- TCAGCAGACAGAGTTGCTTC -3'
(R):5'- GAAGCTCATCAAGATGCTGTTG -3'

Posted On

2014-01-05