Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03109:Tex14'

419102

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tex14

Ensembl Gene

ENSMUSG00000010342

Gene Name

testis expressed gene 14

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03109

Quality Score

Status

Chromosome

Chromosomal Location

87295891-87446649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87434191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 119 (E119V)

Ref Sequence

ENSEMBL: ENSMUSP00000117564 (fasta)

Gene Model

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

AlphaFold

Q7M6U3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060835
AA Change: E1350V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054444
Gene: ENSMUSG00000010342
AA Change: E1350V

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 damaging
Transcript: ENSMUST00000131973
AA Change: E119V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117564
Gene: ENSMUSG00000010342
AA Change: E119V

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

Coding Region Coverage

Validation Efficiency

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
A530064D06Rik	A	T	17: 48,473,628 (GRCm39)	S96R	probably benign	Het
Abca6	T	A	11: 110,071,173 (GRCm39)	H1506L	probably damaging	Het
Adgrg1	T	A	8: 95,734,304 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,846,841 (GRCm39)	T424A	probably benign	Het
Birc6	T	A	17: 74,886,329 (GRCm39)	S552R	possibly damaging	Het
Bptf	T	C	11: 106,952,527 (GRCm39)	T2172A	possibly damaging	Het
Commd9	T	C	2: 101,727,515 (GRCm39)	V103A	probably benign	Het
Ctnnal1	T	A	4: 56,839,045 (GRCm39)	D216V	probably damaging	Het
Dcbld2	A	G	16: 58,276,765 (GRCm39)	T519A	probably benign	Het
Dennd6b	T	C	15: 89,069,188 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,841,950 (GRCm39)	T1369A	probably benign	Het
Ect2	T	C	3: 27,199,121 (GRCm39)	T222A	possibly damaging	Het
Eef2k	G	A	7: 120,490,949 (GRCm39)	G523E	probably damaging	Het
Ephb2	T	G	4: 136,498,855 (GRCm39)	T75P	probably damaging	Het
Exo1	A	T	1: 175,727,126 (GRCm39)	N479I	probably damaging	Het
Fign	A	G	2: 63,811,006 (GRCm39)	L88P	possibly damaging	Het
Golgb1	T	A	16: 36,735,973 (GRCm39)	V1740E	possibly damaging	Het
Icos	A	G	1: 61,036,856 (GRCm39)		probably benign	Het
Il6ra	C	A	3: 89,784,165 (GRCm39)	G369*	probably null	Het
Itpr1	A	G	6: 108,394,942 (GRCm39)	D83G	probably damaging	Het
Kdm2a	A	G	19: 4,379,135 (GRCm39)	I560T	probably benign	Het
Lrp1	C	T	10: 127,402,514 (GRCm39)	R2219H	probably benign	Het
Mical3	A	T	6: 120,986,085 (GRCm39)	C119S	probably damaging	Het
Mipol1	G	A	12: 57,411,010 (GRCm39)	R267H	probably benign	Het
Myrip	A	T	9: 120,282,790 (GRCm39)		probably null	Het
Nelfb	G	A	2: 25,091,073 (GRCm39)	L542F	possibly damaging	Het
Nlrp4b	T	C	7: 10,448,873 (GRCm39)	C359R	probably damaging	Het
Noxred1	T	A	12: 87,280,212 (GRCm39)	H40L	probably damaging	Het
Nphp1	A	T	2: 127,610,089 (GRCm39)		probably benign	Het
Or14j8	C	T	17: 38,263,378 (GRCm39)	C179Y	probably damaging	Het
Pank3	T	A	11: 35,668,501 (GRCm39)	F163L	probably benign	Het
Pde10a	T	C	17: 9,148,046 (GRCm39)		probably null	Het
Pigc	G	A	1: 161,798,345 (GRCm39)	R109Q	possibly damaging	Het
Rfc3	A	G	5: 151,566,559 (GRCm39)	S297P	probably benign	Het
Serinc1	A	T	10: 57,399,165 (GRCm39)	M246K	probably benign	Het
Slc5a8	C	T	10: 88,742,278 (GRCm39)		probably benign	Het
Tecrl	A	G	5: 83,457,156 (GRCm39)		probably benign	Het
Tmem94	A	G	11: 115,683,224 (GRCm39)	K669R	probably damaging	Het
Tnfrsf4	C	A	4: 156,099,868 (GRCm39)	H130Q	probably damaging	Het
Trav18	G	A	14: 54,069,008 (GRCm39)	A18T	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
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
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

Posted On

2016-08-02