Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Tex14'

101361

Institutional Source

Beutler Lab

Gene Symbol

Tex14

Ensembl Gene

ENSMUSG00000010342

Gene Name

testis expressed gene 14

Synonyms

MMRRC Submission

039241-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R1168 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87405065-87555823 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87536742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 7 (T7A)

Ref Sequence

ENSEMBL: ENSMUSP00000117564 (fasta)

Gene Model

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

AlphaFold

Q7M6U3

Predicted Effect

probably benign
Transcript: ENSMUST00000060835
AA Change: T1187A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000054444
Gene: ENSMUSG00000010342
AA Change: T1187A

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
AA Change: T7A

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117564
Gene: ENSMUSG00000010342
AA Change: T7A

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,900	V950A	probably benign	Het
4930452B06Rik	T	C	14: 8,442,939	N610S	probably benign	Het
Adgrb3	A	T	1: 25,826,199	S188T	probably benign	Het
Ahr	A	T	12: 35,504,532	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,583,837	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,384,631		probably null	Het
Alpk3	A	T	7: 81,103,357	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,273,396	H360Q	probably benign	Het
Cacna1a	A	G	8: 84,579,501	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,832,944	W72R	probably damaging	Het
Ces2e	A	T	8: 104,927,014	D28V	possibly damaging	Het
Cfap45	T	C	1: 172,545,697	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,937,920	C87S	probably damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Chrna4	T	A	2: 181,034,138	M67L	possibly damaging	Het
Cts7	T	A	13: 61,353,817	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,030,454	M94L	probably damaging	Het
Fam83d	C	T	2: 158,768,523	A137V	probably benign	Het
Foxd2	C	T	4: 114,907,678	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,250,246	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,704,469	D856E	probably damaging	Het
Gclm	T	A	3: 122,262,688	H86Q	possibly damaging	Het
Gipc2	T	C	3: 152,107,997	T220A	probably benign	Het
Gm12185	G	T	11: 48,915,355	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,895,364	S61R	probably benign	Het
Gm884	T	C	11: 103,618,950		probably benign	Het
Gorasp2	C	T	2: 70,688,400	P260S	probably damaging	Het
H2-M10.6	A	G	17: 36,813,160	Q172R	probably benign	Het
Ibsp	A	G	5: 104,302,152	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,689,676	Y593C	probably damaging	Het
Itln1	G	T	1: 171,531,551	Y61*	probably null	Het
Kif21a	G	A	15: 90,993,753	T284I	probably damaging	Het
Kif3a	G	A	11: 53,598,312	G621R	probably damaging	Het
Klb	A	G	5: 65,378,974	Y549C	probably damaging	Het
Lman1l	G	A	9: 57,608,312	R427C	probably benign	Het
Map4	T	C	9: 110,034,964	V419A	probably benign	Het
Mastl	A	T	2: 23,133,132	D526E	probably benign	Het
Mrvi1	T	C	7: 110,895,931	K429R	probably damaging	Het
Mtif2	A	G	11: 29,536,914	D308G	probably benign	Het
Ncald	A	G	15: 37,397,334	F34S	probably damaging	Het
Ndc1	A	G	4: 107,395,812	T593A	probably benign	Het
Ndst3	C	T	3: 123,606,968	V15I	probably benign	Het
Nup214	A	G	2: 32,025,301	N1166D	probably benign	Het
Olfr1031	A	T	2: 85,992,684	Y289F	probably damaging	Het
Olfr1240	G	A	2: 89,439,869	Q137*	probably null	Het
Olfr1368	A	G	13: 21,142,617	S147P	probably benign	Het
Olfr403	A	G	11: 74,196,421	H306R	probably benign	Het
Pcdhb8	T	C	18: 37,356,727	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,770,271	Y768F	probably benign	Het
Pgf	A	G	12: 85,171,767	S70P	probably benign	Het
Plcl2	G	A	17: 50,607,072	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,862,537	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prag1	A	G	8: 36,146,645	E1117G	probably damaging	Het
Prr12	T	A	7: 45,029,047	Q1919L	unknown	Het
Ret	G	T	6: 118,173,558	H666N	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Robo2	C	T	16: 73,948,296	G864S	probably damaging	Het
Rpa2	T	G	4: 132,771,860	I80S	probably damaging	Het
Ryk	A	T	9: 102,898,475	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,590,278	N30K	probably damaging	Het
Stbd1	A	G	5: 92,604,936	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,292,134	E212G	probably benign	Het
Tmc8	T	C	11: 117,792,563	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,787,019	V730F	probably damaging	Het
Tmub2	G	A	11: 102,287,370	G33D	possibly damaging	Het
Trak1	G	A	9: 121,440,679	D124N	probably damaging	Het
Ttc28	A	T	5: 111,231,111	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,909,369	T3609A	probably benign	Het
Tulp2	A	G	7: 45,517,842	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,465,568		probably null	Het
Ush2a	G	A	1: 188,678,411	V2419I	probably benign	Het
Vill	C	A	9: 119,070,321	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 85,006,854	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,142,219	N800K	probably benign	Het
Wdr93	A	G	7: 79,749,174	K19E	probably damaging	Het
Wrn	A	G	8: 33,316,408	S333P	probably damaging	Het
Zfp418	T	C	7: 7,182,501	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,256,697	E290G	probably benign	Het

Other mutations in Tex14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Tex14	APN	11	87535643	missense	probably damaging	0.98
IGL00494:Tex14	APN	11	87555484	missense	probably damaging	1.00
IGL01604:Tex14	APN	11	87509698	missense	possibly damaging	0.63
IGL02690:Tex14	APN	11	87486274	missense	probably benign	0.11
IGL02888:Tex14	APN	11	87527912	critical splice donor site	probably null
IGL03073:Tex14	APN	11	87535609	missense	probably damaging	0.99
IGL03109:Tex14	APN	11	87543365	missense	probably damaging	1.00
IGL03047:Tex14	UTSW	11	87536704	missense	probably damaging	1.00
R0141:Tex14	UTSW	11	87493031	splice site	probably null
R0455:Tex14	UTSW	11	87514305	missense	possibly damaging	0.93
R0624:Tex14	UTSW	11	87520699	missense	probably benign	0.19
R0718:Tex14	UTSW	11	87499613	missense	probably benign	0.20
R1077:Tex14	UTSW	11	87519745	splice site	probably benign
R1118:Tex14	UTSW	11	87522517	missense	probably benign	0.07
R1120:Tex14	UTSW	11	87538676	splice site	probably benign
R1190:Tex14	UTSW	11	87495108	splice site	probably null
R1470:Tex14	UTSW	11	87549529	splice site	probably benign
R1563:Tex14	UTSW	11	87536808	missense	probably damaging	0.99
R1607:Tex14	UTSW	11	87554928	missense	probably damaging	1.00
R1696:Tex14	UTSW	11	87511545	missense	possibly damaging	0.49
R1873:Tex14	UTSW	11	87499605	missense	probably damaging	1.00
R1894:Tex14	UTSW	11	87474448	missense	probably damaging	1.00
R1911:Tex14	UTSW	11	87495035	missense	probably damaging	1.00
R1955:Tex14	UTSW	11	87509621	missense	probably damaging	1.00
R1971:Tex14	UTSW	11	87511605	missense	probably damaging	1.00
R1990:Tex14	UTSW	11	87549470	missense	probably damaging	1.00
R1991:Tex14	UTSW	11	87549470	missense	probably damaging	1.00
R1993:Tex14	UTSW	11	87536755	missense	possibly damaging	0.57
R2106:Tex14	UTSW	11	87486250	missense	possibly damaging	0.47
R2118:Tex14	UTSW	11	87519743	splice site	probably benign
R2860:Tex14	UTSW	11	87474417	missense	probably damaging	1.00
R2861:Tex14	UTSW	11	87474417	missense	probably damaging	1.00
R4016:Tex14	UTSW	11	87538623	splice site	probably null
R4089:Tex14	UTSW	11	87512203	missense	probably damaging	1.00
R4158:Tex14	UTSW	11	87516769	missense	probably benign	0.06
R4533:Tex14	UTSW	11	87536829	nonsense	probably null
R4713:Tex14	UTSW	11	87536865	missense	probably damaging	0.99
R4758:Tex14	UTSW	11	87514485	missense	probably benign	0.00
R4880:Tex14	UTSW	11	87486295	missense	possibly damaging	0.95
R4953:Tex14	UTSW	11	87536901	critical splice donor site	probably null
R5092:Tex14	UTSW	11	87514842	missense	probably benign	0.03
R5119:Tex14	UTSW	11	87433813	missense	probably damaging	1.00
R5322:Tex14	UTSW	11	87511472	missense	probably benign	0.04
R5470:Tex14	UTSW	11	87551604	missense	probably damaging	0.99
R5607:Tex14	UTSW	11	87522578	missense	probably benign	0.00
R5642:Tex14	UTSW	11	87514220	missense	probably benign
R5643:Tex14	UTSW	11	87535626	missense	probably damaging	1.00
R5786:Tex14	UTSW	11	87514295	missense	probably damaging	0.97
R6478:Tex14	UTSW	11	87514373	missense	probably benign
R6560:Tex14	UTSW	11	87497862	missense	possibly damaging	0.95
R6661:Tex14	UTSW	11	87495016	missense	probably damaging	1.00
R7037:Tex14	UTSW	11	87497915	missense	probably damaging	1.00
R7156:Tex14	UTSW	11	87484719	missense	probably damaging	0.99
R7465:Tex14	UTSW	11	87514430	missense	possibly damaging	0.48
R7675:Tex14	UTSW	11	87509678	missense	probably damaging	1.00
R7725:Tex14	UTSW	11	87495042	missense	probably damaging	0.99
R7911:Tex14	UTSW	11	87533602	critical splice donor site	probably null
R8015:Tex14	UTSW	11	87509600	missense	probably benign	0.13
R8226:Tex14	UTSW	11	87484759	missense	probably damaging	0.96
R8283:Tex14	UTSW	11	87474415	missense	probably damaging	1.00
R8292:Tex14	UTSW	11	87497838	missense	probably damaging	1.00
R8833:Tex14	UTSW	11	87493052	missense	probably benign	0.22
R8932:Tex14	UTSW	11	87433849	missense	possibly damaging	0.65
R9023:Tex14	UTSW	11	87474413	missense
R9144:Tex14	UTSW	11	87522597	critical splice donor site	probably null
R9610:Tex14	UTSW	11	87486258	missense	probably damaging	1.00
R9611:Tex14	UTSW	11	87486258	missense	probably damaging	1.00
RF018:Tex14	UTSW	11	87514746	missense	probably benign	0.01
X0017:Tex14	UTSW	11	87535549	nonsense	probably null
Z1176:Tex14	UTSW	11	87484807	missense	probably benign	0.08
Z1176:Tex14	UTSW	11	87499593	missense	possibly damaging	0.95
Z1177:Tex14	UTSW	11	87514155	missense	probably damaging	0.96

Predicted Primers

Posted On

2014-01-15