Mutagenetix > Incidental Mutation

Incidental Mutation 'R8726:Tekt4'

662461

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 #

R8726 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

25471590-25476594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25472059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 113 (W113L)

Ref Sequence

ENSEMBL: ENSMUSP00000025002 (fasta)

Gene Model

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

AlphaFold

Q149S1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025002
AA Change: W113L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025002
Gene: ENSMUSG00000024175
AA Change: W113L

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: 98.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	A	G	11: 69,898,381	S331P	possibly damaging	Het
4930433I11Rik	A	G	7: 40,994,802	M632V	probably benign	Het
9930111J21Rik2	A	C	11: 49,019,680	V642G	probably damaging	Het
Abcd4	A	T	12: 84,604,397		probably benign	Het
Acsbg1	T	C	9: 54,618,178	E363G	probably damaging	Het
Ank3	T	A	10: 69,987,254	H584Q		Het
Ankrd11	A	T	8: 122,894,026	L1029Q	possibly damaging	Het
Anpep	C	T	7: 79,840,893	V292I	probably benign	Het
Atmin	G	A	8: 116,954,786	D175N	possibly damaging	Het
B4galt6	T	C	18: 20,688,393	I359M	possibly damaging	Het
Bicd2	A	G	13: 49,379,429	D497G	probably damaging	Het
Calcr	C	T	6: 3,707,489		probably benign	Het
Camkk2	G	T	5: 122,743,939	D418E	probably benign	Het
Cntn3	A	T	6: 102,169,053	Y942*	probably null	Het
Col8a1	C	T	16: 57,628,775	R124H	probably damaging	Het
Coro7	T	C	16: 4,668,755	T185A	possibly damaging	Het
Creb3	C	T	4: 43,566,747	P364S	probably benign	Het
Csf1r	A	T	18: 61,117,656	T480S	probably benign	Het
Csnk1g1	T	A	9: 66,002,271	H223Q	probably damaging	Het
Ctns	C	T	11: 73,187,787	V171M	probably benign	Het
Dhx15	A	T	5: 52,154,226	N637K	probably benign	Het
Eif4g1	T	C	16: 20,675,482	Y103H	probably damaging	Het
Eif4g2	C	T	7: 111,077,422	R295H	probably damaging	Het
Fam126b	T	C	1: 58,546,126	T171A	possibly damaging	Het
Fat1	C	T	8: 45,024,169	P2084L	probably benign	Het
Fat4	A	G	3: 39,010,498	R4868G	probably damaging	Het
Fbxo31	A	T	8: 121,555,275	Y295*	probably null	Het
Fmn2	C	A	1: 174,609,838	T1125N	possibly damaging	Het
Foxi2	C	A	7: 135,410,404	P7Q	probably damaging	Het
Hmx1	C	T	5: 35,391,756	P131L	probably damaging	Het
Hrh2	T	C	13: 54,214,152	L49P	probably damaging	Het
Igkv6-14	A	G	6: 70,435,141	V53A	possibly damaging	Het
Kcnb2	C	A	1: 15,710,652	Q583K	probably benign	Het
Kcns3	A	G	12: 11,091,691	S336P	probably damaging	Het
Kremen2	G	T	17: 23,742,746	F262L	probably damaging	Het
Krtap9-1	T	A	11: 99,873,751	C104*	probably null	Het
Ky	A	G	9: 102,527,903	Y199C	probably damaging	Het
L1td1	T	G	4: 98,733,978	L259R	probably damaging	Het
Lrba	A	G	3: 86,353,755	T1473A	probably benign	Het
Lrp6	A	T	6: 134,507,661	L333*	probably null	Het
Lrrc23	T	C	6: 124,776,080	N201S	probably benign	Het
Map4k4	C	A	1: 40,003,982	P666T	possibly damaging	Het
Matn1	T	A	4: 130,952,203	D389E	probably damaging	Het
Mdc1	G	T	17: 35,847,583	G285V	probably benign	Het
Mettl17	T	C	14: 51,890,730		probably null	Het
Mknk1	A	T	4: 115,873,309		probably benign	Het
Neurod1	A	T	2: 79,454,086	F318I	possibly damaging	Het
Nfya	T	C	17: 48,392,417	T213A	probably damaging	Het
Nmrk1	C	T	19: 18,639,538	T17M	probably damaging	Het
Ntrk1	A	C	3: 87,786,089	D245E	probably benign	Het
Nup160	C	A	2: 90,733,201	H1370Q	possibly damaging	Het
Olfr1151	T	C	2: 87,857,817	V214A	probably benign	Het
Olfr745	A	C	14: 50,643,246	K316Q	probably benign	Het
Olfr986	T	A	9: 40,187,367	V84E	probably damaging	Het
Parp4	G	A	14: 56,629,099	R1040H	probably benign	Het
Pdia4	C	A	6: 47,808,266	E56*	probably null	Het
Pdia5	A	G	16: 35,449,414	F175S	probably damaging	Het
Piezo2	C	T	18: 63,109,885	S621N	probably benign	Het
Pigw	T	C	11: 84,877,817	T229A	possibly damaging	Het
Rasa3	T	C	8: 13,576,381	Y734C	probably benign	Het
Rfx7	T	A	9: 72,593,223		probably benign	Het
Rims1	T	C	1: 22,594,100	D178G	possibly damaging	Het
Ros1	A	G	10: 52,078,673	V1853A	possibly damaging	Het
Rps7	A	G	12: 28,631,715	I139T	probably benign	Het
Sall3	T	C	18: 80,986,493	D15G	possibly damaging	Het
Scn1a	A	T	2: 66,303,639	V137D	probably benign	Het
Slc23a3	G	A	1: 75,129,529	P349S	probably benign	Het
Slc35a5	C	G	16: 45,143,658	R404P	probably damaging	Het
Stard13	A	T	5: 151,063,142	M301K	probably benign	Het
Suclg2	A	G	6: 95,655,508	F60S	probably damaging	Het
Tecpr2	T	A	12: 110,938,234	F887L	possibly damaging	Het
Tep1	G	A	14: 50,847,623	S901F	probably damaging	Het
Tex11	C	T	X: 101,015,585	V190I	possibly damaging	Het
Thbs1	T	A	2: 118,119,476		probably null	Het
Tm9sf4	T	A	2: 153,198,375	V425D	probably damaging	Het
Tpo	A	G	12: 30,055,138	L911P	possibly damaging	Het
Ttn	T	C	2: 76,898,957	Q5332R	unknown	Het
Wdr59	A	T	8: 111,496,834	D169E		Het
Zfp799	C	A	17: 32,820,192	G367C	probably 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
R9178:Tekt4	UTSW	17	25471927	missense	possibly damaging	0.73
R9616:Tekt4	UTSW	17	25473808	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCAAATACCTGAGGGACGAGTG -3'
(R):5'- ACTGGTTGCACCTTCAGTAGC -3'

Sequencing Primer
(F):5'- ACGAGTGGTTTCAGAACTCTTATGC -3'
(R):5'- TTCAGTAGCTCCACCTCCACATAG -3'

Posted On

2021-03-08