Mutagenetix > Incidental Mutation

Incidental Mutation 'R6661:Tex14'

526851

Institutional Source

Beutler Lab

Gene Symbol

Tex14

Ensembl Gene

ENSMUSG00000010342

Gene Name

testis expressed gene 14

Synonyms

MMRRC Submission

044781-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R6661 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87295891-87446649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87385842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 234 (E234G)

Ref Sequence

ENSEMBL: ENSMUSP00000054444 (fasta)

Gene Model

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

AlphaFold

Q7M6U3

Predicted Effect

probably damaging
Transcript: ENSMUST00000060835
AA Change: E234G

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

SMART Domains

Protein: ENSMUSP00000054444
Gene: ENSMUSG00000010342
AA Change: E234G

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.8%

Validation Efficiency

93% (38/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amy2a1	T	C	3: 113,325,363 (GRCm39)	Y77C	probably damaging	Het
Ankrd9	C	A	12: 110,944,202 (GRCm39)		probably benign	Het
Arhgap28	C	A	17: 68,152,746 (GRCm39)	W675L	probably damaging	Het
Arhgap44	A	G	11: 64,900,834 (GRCm39)	S595P	probably damaging	Het
Brd10	A	T	19: 29,700,864 (GRCm39)	H741Q	possibly damaging	Het
Cacna1d	C	A	14: 29,811,832 (GRCm39)	D1273Y	probably damaging	Het
Ccr4	T	C	9: 114,325,031 (GRCm39)		probably benign	Het
Celsr1	A	G	15: 85,803,135 (GRCm39)	V2468A	probably damaging	Het
Chd2	T	C	7: 73,140,230 (GRCm39)	E666G	possibly damaging	Het
Ctnnd1	C	A	2: 84,439,986 (GRCm39)	V775L	probably damaging	Het
Cux2	C	A	5: 122,007,360 (GRCm39)	R767L	probably benign	Het
Decr2	A	G	17: 26,302,561 (GRCm39)	L217S	possibly damaging	Het
Dennd4c	T	A	4: 86,717,626 (GRCm39)	M541K	possibly damaging	Het
Dnah7a	T	C	1: 53,662,609 (GRCm39)	R651G	probably benign	Het
Fbrsl1	A	T	5: 110,525,963 (GRCm39)	F80I	probably damaging	Het
Fmnl2	C	A	2: 52,998,297 (GRCm39)	P554Q	probably damaging	Het
Gapvd1	C	T	2: 34,618,450 (GRCm39)	D308N	probably damaging	Het
Gatb	A	G	3: 85,559,726 (GRCm39)		probably null	Het
Jcad	G	A	18: 4,675,256 (GRCm39)	G1006D	probably damaging	Het
Krt1c	A	G	15: 101,724,398 (GRCm39)	Y289H	probably damaging	Het
Lrrc52	A	G	1: 167,293,922 (GRCm39)	F121S	probably damaging	Het
Lrrc63	G	A	14: 75,362,633 (GRCm39)	T299I	unknown	Het
Magi1	T	C	6: 93,920,289 (GRCm39)	N109S	probably benign	Het
Mbd4	C	A	6: 115,826,116 (GRCm39)	E271*	probably null	Het
Meis2	T	A	2: 115,694,751 (GRCm39)	D457V	probably damaging	Het
Mroh8	A	G	2: 157,067,547 (GRCm39)	V604A	probably benign	Het
Nedd4	T	A	9: 72,593,377 (GRCm39)	V150E	probably damaging	Het
Nes	A	G	3: 87,884,243 (GRCm39)	E790G	probably damaging	Het
Or8h8	T	C	2: 86,753,492 (GRCm39)	N128S	probably benign	Het
Pik3c2a	T	C	7: 115,967,993 (GRCm39)	I834V	possibly damaging	Het
Plxnb1	T	C	9: 108,933,367 (GRCm39)	C666R	possibly damaging	Het
Prg2	T	C	2: 84,813,620 (GRCm39)		probably null	Het
Selenbp2	A	G	3: 94,609,821 (GRCm39)	D257G	probably damaging	Het
Slf1	T	C	13: 77,191,964 (GRCm39)	R957G	probably damaging	Het
Smim10l1	T	A	6: 133,082,513 (GRCm39)	M46K	possibly damaging	Het
Sptbn5	T	C	2: 119,902,856 (GRCm39)	Y50C	possibly damaging	Het
Tcea1	A	G	1: 4,928,652 (GRCm39)		probably benign	Het
Tmbim4	T	C	10: 120,060,556 (GRCm39)	V181A	probably benign	Het
Trappc9	A	G	15: 72,461,993 (GRCm39)	S1091P	possibly damaging	Het
Txnrd3	T	A	6: 89,631,134 (GRCm39)	C143*	probably null	Het
Ushbp1	C	T	8: 71,843,305 (GRCm39)	C314Y	unknown	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
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
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'- TACCAGCAAAGAGGGTCCGTAG -3'
(R):5'- TCAGTCCTGTCCCATCCAAG -3'

Sequencing Primer
(F):5'- GGTGTATTTACTAGGTAAGTAGCAGC -3'
(R):5'- CAGCCTGGTCTACAAAGTGAGTTC -3'

Posted On

2018-07-23