Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00272:Tex14'

14430

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 #

IGL00272

Quality Score

Status

Chromosome

Chromosomal Location

87295891-87446649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87426469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1165 (S1165N)

Ref Sequence

ENSEMBL: ENSMUSP00000054444 (fasta)

Gene Model

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

AlphaFold

Q7M6U3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060835
AA Change: S1165N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054444
Gene: ENSMUSG00000010342
AA Change: S1165N

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

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,700,279 (GRCm39)	V41A	probably damaging	Het
Ankrd12	C	T	17: 66,293,169 (GRCm39)	V755I	probably benign	Het
Arrdc3	T	C	13: 81,038,691 (GRCm39)	S218P	probably damaging	Het
Bzw1	T	C	1: 58,442,101 (GRCm39)	V292A	possibly damaging	Het
Cers2	T	C	3: 95,229,211 (GRCm39)	Y228H	probably damaging	Het
Dnaaf6	A	G	X: 139,006,711 (GRCm39)	I197V	probably benign	Het
Egf	C	T	3: 129,505,098 (GRCm39)	M625I	probably benign	Het
Fbxw8	A	T	5: 118,206,162 (GRCm39)	H595Q	probably benign	Het
Fshr	T	A	17: 89,292,699 (GRCm39)	I660F	probably benign	Het
Gapdh	C	T	6: 125,139,470 (GRCm39)	V267M	probably damaging	Het
Ginm1	T	C	10: 7,668,460 (GRCm39)		probably benign	Het
Gja1	A	G	10: 56,264,418 (GRCm39)	D259G	probably benign	Het
Gm21814	T	A	6: 149,483,502 (GRCm39)		noncoding transcript	Het
Gm26870	T	C	9: 3,002,340 (GRCm39)		probably benign	Het
Habp2	G	A	19: 56,306,264 (GRCm39)	C482Y	probably damaging	Het
Knl1	A	C	2: 118,894,564 (GRCm39)	N79T	probably damaging	Het
Lama3	G	A	18: 12,624,605 (GRCm39)	C1450Y	probably damaging	Het
Lats2	T	C	14: 57,929,026 (GRCm39)	T950A	probably benign	Het
Map2k2	T	A	10: 80,956,907 (GRCm39)	M95K	probably damaging	Het
Med12l	T	A	3: 58,949,757 (GRCm39)	I160N	probably damaging	Het
Or9m1b	A	G	2: 87,836,988 (GRCm39)	S45P	probably damaging	Het
Or9m2	A	T	2: 87,820,782 (GRCm39)	D109V	probably damaging	Het
Pes1	T	C	11: 3,926,803 (GRCm39)	S362P	probably damaging	Het
Ppp6r2	G	T	15: 89,170,016 (GRCm39)	A844S	probably benign	Het
Rnf130	A	G	11: 49,984,623 (GRCm39)	I308V	probably damaging	Het
Scn11a	T	C	9: 119,645,669 (GRCm39)	N95S	probably damaging	Het
Shoc1	A	G	4: 59,086,961 (GRCm39)	F284L	probably benign	Het
Skint2	A	G	4: 112,481,409 (GRCm39)	T91A	probably damaging	Het
Smg1	A	G	7: 117,797,494 (GRCm39)		probably benign	Het
Snapc1	A	G	12: 74,015,148 (GRCm39)		probably null	Het
Stard10	A	T	7: 100,971,173 (GRCm39)	Y47F	probably damaging	Het
Tenm3	C	T	8: 48,870,095 (GRCm39)	V233I	probably damaging	Het
Unc5a	A	G	13: 55,143,633 (GRCm39)	I106V	probably benign	Het
Vps54	T	A	11: 21,227,909 (GRCm39)	Y275N	possibly damaging	Het
Wdr87-ps	G	T	7: 29,237,047 (GRCm39)		noncoding transcript	Het

Other mutations in Tex14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06