Mutagenetix > Incidental Mutation

Incidental Mutation 'R9178:Tekt4'

696859

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: 0.118) question?

Stock #

R9178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25471590-25476594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25471927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 69 (A69V)

Ref Sequence

ENSEMBL: ENSMUSP00000025002 (fasta)

Gene Model

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

AlphaFold

Q149S1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025002
AA Change: A69V

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025002
Gene: ENSMUSG00000024175
AA Change: A69V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,973,708	T146S	unknown	Het
Abca8b	A	T	11: 109,950,111	F1079I	probably benign	Het
Adcy10	A	T	1: 165,575,649	Q1572L	possibly damaging	Het
Akna	T	C	4: 63,394,609	T426A	possibly damaging	Het
Alkbh8	A	G	9: 3,338,448		probably benign	Het
Apc2	G	A	10: 80,314,401	G1763E	probably benign	Het
Bmp1	G	T	14: 70,490,173	R657S	possibly damaging	Het
Calm1	G	A	12: 100,205,720		probably null	Het
Ccdc150	C	A	1: 54,272,485	A210E	probably damaging	Het
Cdc42bpa	T	C	1: 180,130,836	I275T		Het
Cfap54	G	T	10: 92,994,717	Q1186K	probably benign	Het
Col6a6	A	G	9: 105,781,970	V592A	probably benign	Het
Colec11	A	T	12: 28,594,855	N213K	possibly damaging	Het
Dennd5b	G	A	6: 149,033,346	R676*	probably null	Het
Dnaaf5	T	G	5: 139,152,897	Y278D	probably damaging	Het
Dopey1	T	A	9: 86,489,743	Y162*	probably null	Het
Dync1li2	A	G	8: 104,423,623	L369P	possibly damaging	Het
Ebf1	A	G	11: 44,992,449	T505A	probably benign	Het
Ebf1	A	G	11: 45,004,721	I584M	probably benign	Het
Frmpd1	T	C	4: 45,285,367	L1396P	probably damaging	Het
Gart	A	T	16: 91,634,016	V386D	possibly damaging	Het
Gm2075	A	G	12: 88,012,016	R57G	probably damaging	Het
Gprin1	C	T	13: 54,737,788	R891H	probably damaging	Het
Gsap	G	A	5: 21,217,473	V147I	probably damaging	Het
Gsc	G	T	12: 104,472,861	Y85*	probably null	Het
Gtf2a1l	A	G	17: 88,668,724	N5S		Het
Hmcn2	T	C	2: 31,391,509	V1912A	possibly damaging	Het
Icos	G	T	1: 60,995,555	S179I	probably damaging	Het
Ifi209	T	C	1: 173,637,403	L33P	probably damaging	Het
Igsf10	A	G	3: 59,326,059	I1751T	possibly damaging	Het
Il31ra	T	C	13: 112,541,246	Y252C	probably damaging	Het
Ints6	A	T	14: 62,709,587	S310T	probably damaging	Het
Kcng1	A	T	2: 168,269,185	S20T	possibly damaging	Het
Klf15	T	C	6: 90,467,109	I222T	probably damaging	Het
Lmo7	A	T	14: 101,807,470	K53*	probably null	Het
Map10	C	A	8: 125,670,910	N347K	probably damaging	Het
Mrps11	C	A	7: 78,790,696	T111K	probably damaging	Het
Myom3	T	G	4: 135,779,399	D494E	probably benign	Het
Naalad2	T	A	9: 18,330,856	Y584F	probably damaging	Het
Ndufa9	A	G	6: 126,849,087	V9A	probably benign	Het
Nrcam	G	T	12: 44,568,546	V640F	possibly damaging	Het
Olfr248	C	T	1: 174,391,663	T198I	probably benign	Het
Olfr330	C	A	11: 58,529,647	G113V	probably damaging	Het
Olfr646	T	C	7: 104,106,513	M78T	probably benign	Het
Olfr993	G	A	2: 85,414,504	A125V	probably damaging	Het
Pcdhga8	T	A	18: 37,727,839	H649Q	probably benign	Het
Pdk1	C	A	2: 71,900,058	H413Q	probably benign	Het
Pfkm	T	A	15: 98,129,280	H611Q	probably damaging	Het
Polr3g	T	C	13: 81,694,416	Y160C	unknown	Het
Ppargc1b	A	T	18: 61,310,922	M406K	probably benign	Het
Ptf1a	C	T	2: 19,445,725		probably benign	Het
Rc3h2	A	T	2: 37,405,252	C251S	possibly damaging	Het
Rnf32	A	G	5: 29,206,213	T166A	possibly damaging	Het
Sav1	A	T	12: 69,976,016	V254E	probably damaging	Het
Sel1l	T	C	12: 91,830,752	N234D	probably benign	Het
Setd1a	C	T	7: 127,786,418	P766S	possibly damaging	Het
Skida1	T	A	2: 18,045,678	K801*	probably null	Het
Slc22a5	G	A	11: 53,883,721	T146I	probably benign	Het
Slc25a24	G	T	3: 109,156,952	A206S	possibly damaging	Het
Slc39a6	G	A	18: 24,600,913	R240W	probably damaging	Het
Ssc5d	T	A	7: 4,927,059	D46E	probably damaging	Het
St5	C	T	7: 109,557,084	G153D	probably benign	Het
Tmigd1	T	A	11: 76,914,052	F239Y	probably benign	Het
Tpp1	T	A	7: 105,751,639	R60S	probably benign	Het
Trank1	A	T	9: 111,367,200	I1431F	probably damaging	Het
Trav15-1-dv6-1	G	T	14: 53,560,062	W56L	probably damaging	Het
Ugt2b38	A	G	5: 87,420,537	S300P	probably damaging	Het
Urah	T	A	7: 140,837,674	L119Q	unknown	Het
Uspl1	T	A	5: 149,204,338	F382L	probably damaging	Het
Vps9d1	T	A	8: 123,248,835	Q157L	probably damaging	Het
Wbp1l	G	A	19: 46,652,494	V88I	probably benign	Het
Zfp444	T	C	7: 6,188,158	S113P	probably damaging	Het
Zfp580	T	G	7: 5,053,153	S171A	possibly damaging	Het
Zfp607a	A	G	7: 27,877,957	I151V	probably benign	Het
Zfp827	T	C	8: 79,091,935	F614S	probably damaging	Het
Zic4	A	T	9: 91,378,860	Q56L	possibly damaging	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
R9616:Tekt4	UTSW	17	25473808	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCCCACAGTCAATAGATGTC -3'
(R):5'- CAGGTTGTCAGTAGCAATGGAG -3'

Sequencing Primer
(F):5'- CAGTCAATAGATGTCTGTGAGCTTCC -3'
(R):5'- AGCTTCTGGGCCATCATCAG -3'

Posted On

2022-02-07