Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02690:Tex14'

303699

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 #

IGL02690

Quality Score

Status

Chromosome

Chromosomal Location

87295891-87446649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87377100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 148 (T148I)

Ref Sequence

ENSEMBL: ENSMUSP00000054444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060835] [ENSMUST00000156483]

AlphaFold

Q7M6U3

Predicted Effect

probably benign
Transcript: ENSMUST00000060835
AA Change: T148I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000054444
Gene: ENSMUSG00000010342
AA Change: T148I

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: ENSMUST00000156483

SMART Domains

Protein: ENSMUSP00000118114
Gene: ENSMUSG00000010342

Domain	Start	End	E-Value	Type
ANK	34	63	7.99e2	SMART
ANK	67	96	6.36e-3	SMART

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	C	17: 57,787,921 (GRCm39)	V896A	probably damaging	Het
Ahnak	C	A	19: 8,989,948 (GRCm39)	S3744*	probably null	Het
Aldh7a1	A	G	18: 56,661,427 (GRCm39)		probably benign	Het
Ankk1	T	A	9: 49,333,200 (GRCm39)	I95F	probably damaging	Het
Borcs8	C	A	8: 70,617,738 (GRCm39)	A32D	probably damaging	Het
Ccn3	A	G	15: 54,611,198 (GRCm39)	Y111C	probably damaging	Het
Cdh1	T	A	8: 107,384,516 (GRCm39)	I328N	probably damaging	Het
Cebpz	C	T	17: 79,229,986 (GRCm39)	D856N	probably damaging	Het
Clip2	T	A	5: 134,539,013 (GRCm39)		probably benign	Het
Dock7	C	A	4: 98,857,872 (GRCm39)	V1451F	possibly damaging	Het
Edem3	T	G	1: 151,680,550 (GRCm39)	C558W	probably damaging	Het
Eif3f	T	C	7: 108,533,925 (GRCm39)	V96A	probably damaging	Het
Gen1	A	G	12: 11,291,576 (GRCm39)	S738P	probably damaging	Het
Ipo8	A	T	6: 148,678,861 (GRCm39)	S912R	probably benign	Het
Kcp	G	T	6: 29,484,998 (GRCm39)		probably benign	Het
Larp7-ps	T	A	4: 92,079,248 (GRCm39)	D191V	probably damaging	Het
Lrrfip1	A	G	1: 90,981,383 (GRCm39)	T2A	probably damaging	Het
Lyst	A	G	13: 13,815,710 (GRCm39)	E1198G	possibly damaging	Het
Maml1	A	G	11: 50,149,457 (GRCm39)	L761P	probably damaging	Het
Mon2	T	A	10: 122,845,532 (GRCm39)	E1392V	possibly damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Or13c7b	G	A	4: 43,821,190 (GRCm39)	T57M	possibly damaging	Het
Or5k17	G	A	16: 58,746,214 (GRCm39)	T240I	possibly damaging	Het
Rag2	A	T	2: 101,459,839 (GRCm39)	I50L	probably benign	Het
Rasgrf2	T	C	13: 92,167,273 (GRCm39)	N267D	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rsc1a1	A	T	4: 141,412,612 (GRCm39)	V100D	probably damaging	Het
Rtp1	T	C	16: 23,250,132 (GRCm39)	Y166H	probably damaging	Het
Scly	A	T	1: 91,233,047 (GRCm39)	T109S	probably benign	Het
Scn8a	A	T	15: 100,868,135 (GRCm39)	S327C	probably damaging	Het
Sgsm1	T	C	5: 113,434,633 (GRCm39)		probably benign	Het
Slc4a9	A	G	18: 36,665,040 (GRCm39)	Y463C	probably damaging	Het
Speer1j	C	T	5: 11,555,228 (GRCm39)	Q66*	probably null	Het
Sptan1	A	G	2: 29,888,195 (GRCm39)	M936V	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tbx20	T	A	9: 24,685,033 (GRCm39)	N37Y	probably benign	Het
Tent4a	T	A	13: 69,658,744 (GRCm39)	M364L	probably benign	Het
Ubxn7	A	G	16: 32,200,423 (GRCm39)	E371G	probably benign	Het
Ugt2b35	T	C	5: 87,149,096 (GRCm39)	F116L	probably benign	Het
Vmn2r111	C	T	17: 22,778,023 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,003,091 (GRCm39)	L167P	probably benign	Het
Vps13b	T	C	15: 35,917,288 (GRCm39)	W3711R	probably damaging	Het
Wdr5	A	T	2: 27,424,840 (GRCm39)	T326S	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
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
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

2015-04-16