Mutagenetix > Incidental Mutation

Incidental Mutation 'R9616:Tekt4'

724624

Institutional Source

Beutler Lab

Gene Symbol

Tekt4

Ensembl Gene

ENSMUSG00000024175

Gene Name

tektin 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R9616 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25471590-25476594 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 25473808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025002]

AlphaFold

Q149S1

Predicted Effect

probably null
Transcript: ENSMUST00000025002

SMART Domains

Protein: ENSMUSP00000025002
Gene: ENSMUSG00000024175

Domain	Start	End	E-Value	Type
Pfam:Tektin	56	438	6.2e-143	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased male fertility due to abnormal flagellum function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040M04Rik	T	A	1: 151,204,729	D189E	probably benign	Het
Abca13	A	T	11: 9,290,501	H788L	probably benign	Het
Abcb1b	A	G	5: 8,812,779	I154V	probably benign	Het
Acsm4	A	G	7: 119,694,649	N81S	probably benign	Het
Adamts5	G	A	16: 85,862,786	H873Y	probably benign	Het
Aox4	C	T	1: 58,228,861	T200I	possibly damaging	Het
Arhgap33	A	G	7: 30,529,942	V336A	probably damaging	Het
Brca1	C	T	11: 101,525,857	E484K	probably damaging	Het
Capn13	T	A	17: 73,365,969	D113V	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ceacam3	G	A	7: 17,158,153	E274K		Het
Cfh	A	T	1: 140,102,516	I891K	probably damaging	Het
Cgn	A	G	3: 94,763,025	S1041P	probably damaging	Het
Cldn18	T	C	9: 99,698,862	D111G	probably benign	Het
Cnp	G	A	11: 100,576,435	R68Q	probably benign	Het
Cntn4	T	A	6: 106,697,564	C1008*	probably null	Het
Cntnap5a	T	C	1: 116,101,593	I259T	probably benign	Het
Cubn	A	G	2: 13,314,718	I2897T	probably benign	Het
Cyp2c39	T	A	19: 39,513,204	L67Q	probably damaging	Het
Dclk1	G	A	3: 55,480,433	C100Y	probably damaging	Het
Ddc	C	T	11: 11,822,288	W349*	probably null	Het
Dennd3	A	G	15: 73,568,714	E1198G	probably benign	Het
Dnah1	T	C	14: 31,304,443	D826G	probably null	Het
Dpp4	T	C	2: 62,387,085	Y56C	probably damaging	Het
Etv6	A	G	6: 134,266,332	D350G	possibly damaging	Het
Fam129a	T	C	1: 151,636,442	Y32H	probably damaging	Het
Fat1	C	A	8: 44,953,038	P942Q	probably damaging	Het
Fbxl5	A	G	5: 43,758,817	F418L	probably benign	Het
Fbxo11	T	A	17: 88,008,670	H368L		Het
Fhl2	G	T	1: 43,128,386	H182Q	probably damaging	Het
Gabpa	T	A	16: 84,852,573	C223S	probably damaging	Het
Gigyf2	T	C	1: 87,428,604	I803T	unknown	Het
Greb1	A	T	12: 16,740,037	N3K	probably damaging	Het
Hmcn1	T	G	1: 150,808,722	S366R	probably benign	Het
Il17b	A	G	18: 61,692,292	Q133R	probably benign	Het
Inha	T	A	1: 75,509,567	S169T	probably benign	Het
Itsn1	G	A	16: 91,853,167	R243H	probably benign	Het
Kcnu1	G	GA	8: 25,913,647		probably null	Het
Kdm1b	A	G	13: 47,080,554	E788G	probably damaging	Het
Kdm2a	A	T	19: 4,320,280	I1059N	probably damaging	Het
Klk1b9	G	T	7: 43,979,371	G100C	probably benign	Het
Knl1	T	C	2: 119,069,513	V565A	probably benign	Het
Knl1	A	T	2: 119,076,944	N1650Y	probably damaging	Het
Lpp	T	C	16: 24,761,969	V270A	probably benign	Het
Lrrc15	A	G	16: 30,273,699	L274P	probably damaging	Het
Mertk	C	T	2: 128,801,335	L885F	probably benign	Het
Mpst	T	A	15: 78,410,161	L31*	probably null	Het
Ms4a10	T	C	19: 10,967,076	T115A	possibly damaging	Het
Myof	A	G	19: 37,934,815	I1330T	possibly damaging	Het
Ncam2	T	C	16: 81,443,254	I201T	probably damaging	Het
Nefh	T	A	11: 4,939,443	K1059*	probably null	Het
Nek1	T	C	8: 61,020,073	Y168H	probably damaging	Het
Nek11	T	A	9: 105,204,812	T531S	probably damaging	Het
Nelfa	G	A	5: 33,901,783	P243S	possibly damaging	Het
Notum	G	T	11: 120,660,148	T64K		Het
Olfr1504	A	G	19: 13,887,497	S238P	probably damaging	Het
Olfr159	T	A	4: 43,770,193	K273*	probably null	Het
Olfr691	A	C	7: 105,337,313	Y134*	probably null	Het
Otof	A	G	5: 30,382,364	I1035T	possibly damaging	Het
Otud3	A	G	4: 138,897,614	Y259H	probably benign	Het
Per1	G	T	11: 69,102,728	C368F	probably damaging	Het
Pitrm1	G	T	13: 6,555,566	R183L	probably damaging	Het
Prl3a1	C	T	13: 27,275,135	A119V		Het
Pycard	C	T	7: 127,993,604	G17E	probably benign	Het
Rnf13	A	G	3: 57,833,009	D249G	possibly damaging	Het
Sdhaf2	T	C	19: 10,517,325	Y33C	probably damaging	Het
Sdk2	A	G	11: 113,800,235	V1838A	probably benign	Het
Sgo2b	C	T	8: 63,927,240	V853I	probably benign	Het
Slc1a4	T	C	11: 20,332,403	T24A	probably benign	Het
Slc8a1	T	C	17: 81,647,978	T544A	probably benign	Het
Sntg2	T	C	12: 30,276,733	N143S	probably benign	Het
Sphkap	T	C	1: 83,277,268	E920G	probably damaging	Het
Srgap2	T	A	1: 131,325,090	H132L		Het
Srgap3	A	T	6: 112,771,563	V376D	probably damaging	Het
Stxbp5l	T	C	16: 37,215,952	K434E	probably damaging	Het
Tab2	A	T	10: 7,919,241	N492K	possibly damaging	Het
Tbc1d32	T	C	10: 56,161,150	Q666R	possibly damaging	Het
Tnni3k	G	A	3: 154,962,087	Q230*	probably null	Het
Trp53bp1	A	C	2: 121,236,176	S690A	probably benign	Het
Trpa1	C	A	1: 14,918,853		probably benign	Het
Trpm1	T	G	7: 64,208,384	V324G	probably damaging	Het
Usp29	A	G	7: 6,963,180	E674G	possibly damaging	Het
Vmn2r59	T	C	7: 42,011,875	R839G	probably damaging	Het
Vmn2r6	A	G	3: 64,538,303	L667P	probably damaging	Het
Vmn2r91	T	A	17: 18,136,043	F657L	possibly damaging	Het
Vps13d	A	G	4: 145,098,131	V2923A		Het
Xylb	T	A	9: 119,371,956	L220Q	probably damaging	Het
Zbtb10	C	T	3: 9,251,413	T95M	probably benign	Het
Zfp263	C	T	16: 3,749,618	P599L	probably damaging	Het
Zfp532	A	G	18: 65,656,568	E1026G	probably benign	Het
Zfp78	A	G	7: 6,379,079	N376S	probably benign	Het

Other mutations in Tekt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Tekt4	APN	17	25476384	missense	probably benign	0.31
IGL02657:Tekt4	APN	17	25473758	missense	possibly damaging	0.93
R0788:Tekt4	UTSW	17	25472047	missense	probably damaging	1.00
R1280:Tekt4	UTSW	17	25471887	missense	probably damaging	1.00
R1466:Tekt4	UTSW	17	25472074	missense	probably benign	0.29
R1466:Tekt4	UTSW	17	25472074	missense	probably benign	0.29
R1819:Tekt4	UTSW	17	25473811	splice site	probably null
R1902:Tekt4	UTSW	17	25471858	missense	possibly damaging	0.63
R2262:Tekt4	UTSW	17	25476511	missense	possibly damaging	0.76
R2263:Tekt4	UTSW	17	25476511	missense	possibly damaging	0.76
R4010:Tekt4	UTSW	17	25476486	missense	probably damaging	1.00
R4604:Tekt4	UTSW	17	25471775	missense	probably benign
R5085:Tekt4	UTSW	17	25473775	missense	probably damaging	0.99
R6187:Tekt4	UTSW	17	25472223	missense	probably damaging	1.00
R7102:Tekt4	UTSW	17	25474744	missense	probably damaging	0.99
R8726:Tekt4	UTSW	17	25472059	missense	probably damaging	1.00
R9178:Tekt4	UTSW	17	25471927	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- AGTGAACGTCGCACACAAGG -3'
(R):5'- AAAAGTGGAGATGGTTGTATTCGC -3'

Sequencing Primer
(F):5'- GTCGCACACAAGGGCTGAAC -3'
(R):5'- TATTCGCTGAGCAGAGCCTG -3'

Posted On

2022-09-12