Mutagenetix > Incidental Mutation

Incidental Mutation 'R5198:Tekt3'

400498

Institutional Source

Beutler Lab

Gene Symbol

Tekt3

Ensembl Gene

ENSMUSG00000042189

Gene Name

tektin 3

Synonyms

4933407G07Rik

MMRRC Submission

042774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62952485-62985786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62961134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 101 (R101H)

Ref Sequence

ENSEMBL: ENSMUSP00000042063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035732]

AlphaFold

Q6X6Z7

Predicted Effect

probably damaging
Transcript: ENSMUST00000035732
AA Change: R101H

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

SMART Domains

Protein: ENSMUSP00000042063
Gene: ENSMUSG00000042189
AA Change: R101H

Domain	Start	End	E-Value	Type
Pfam:Tektin	99	481	5.6e-149	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit defective sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,571,726 (GRCm39)	V1121A	probably benign	Het
Adamtsl3	A	C	7: 82,261,006 (GRCm39)	K1647Q	possibly damaging	Het
Adgrb1	A	T	15: 74,415,550 (GRCm39)	Q710L	probably null	Het
Alox12	T	C	11: 70,145,243 (GRCm39)	E110G	probably damaging	Het
Cep152	T	A	2: 125,429,544 (GRCm39)	M738L	probably benign	Het
Cma2	T	C	14: 56,209,532 (GRCm39)	V38A	probably benign	Het
Dlc1	C	T	8: 37,405,552 (GRCm39)	G79D	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dus3l	A	G	17: 57,076,574 (GRCm39)	I585V	probably benign	Het
Etl4	A	G	2: 20,718,198 (GRCm39)	Y313C	probably damaging	Het
Fbxw15	C	A	9: 109,387,242 (GRCm39)	S251I	probably benign	Het
Gata4	G	A	14: 63,437,900 (GRCm39)	S417L	probably benign	Het
Gdpd5	T	A	7: 99,087,515 (GRCm39)	Y60N	probably damaging	Het
Gm17669	T	C	18: 67,695,626 (GRCm39)	M57T	probably benign	Het
Gpr39	A	T	1: 125,605,173 (GRCm39)	I34F	probably benign	Het
Iffo2	T	A	4: 139,302,528 (GRCm39)	D90E	probably benign	Het
Il17c	A	G	8: 123,149,108 (GRCm39)	D84G	possibly damaging	Het
Itih3	T	C	14: 30,634,606 (GRCm39)	T134A	probably benign	Het
Lama2	G	A	10: 27,222,999 (GRCm39)	A429V	probably damaging	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mug1	G	A	6: 121,851,521 (GRCm39)	R806H	probably damaging	Het
Naaa	G	A	5: 92,415,904 (GRCm39)	R65*	probably null	Het
Nacc2	C	T	2: 25,950,346 (GRCm39)	M463I	probably benign	Het
Nemf	A	G	12: 69,402,821 (GRCm39)	S72P	probably damaging	Het
Nudt7	G	A	8: 114,862,185 (GRCm39)		probably null	Het
Or4b1b	T	C	2: 90,126,737 (GRCm39)	Q156R	probably damaging	Het
Or52z15	T	C	7: 103,331,936 (GRCm39)	S4P	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacs1	T	C	19: 5,189,325 (GRCm39)	D757G	probably benign	Het
Pkd2	A	C	5: 104,630,958 (GRCm39)	I461L	probably benign	Het
Potegl	G	A	2: 23,102,473 (GRCm39)	C121Y	probably damaging	Het
Pramel5	T	G	4: 144,000,064 (GRCm39)		probably benign	Het
Ptgdr	G	C	14: 45,096,300 (GRCm39)	F137L	probably damaging	Het
Pum1	T	A	4: 130,507,190 (GRCm39)	C1085*	probably null	Het
Rfx3	T	C	19: 27,808,176 (GRCm39)	D189G	probably damaging	Het
Rlf	T	A	4: 121,005,750 (GRCm39)	K1077*	probably null	Het
Slc25a30	C	A	14: 76,007,056 (GRCm39)	D147Y	probably benign	Het
Smap2	T	C	4: 120,873,984 (GRCm39)	E22G	possibly damaging	Het
Szt2	T	C	4: 118,245,519 (GRCm39)	T1098A	probably benign	Het
Tbcc	T	C	17: 47,201,788 (GRCm39)	F58S	probably damaging	Het
Vcan	T	A	13: 89,838,991 (GRCm39)	E2184D	probably damaging	Het
Vkorc1	T	C	7: 127,493,760 (GRCm39)	E18G	probably benign	Het
Vmn1r68	T	C	7: 10,261,723 (GRCm39)	H125R	probably benign	Het
Vmn2r63	C	A	7: 42,553,169 (GRCm39)	V696L	probably benign	Het
Wdr59	G	A	8: 112,208,620 (GRCm39)	H421Y	probably benign	Het
Xkr7	T	C	2: 152,896,873 (GRCm39)	Y576H	probably damaging	Het
Zfp112	T	C	7: 23,824,281 (GRCm39)	V83A	possibly damaging	Het
Zfp616	G	A	11: 73,974,336 (GRCm39)	V293I	probably benign	Het

Other mutations in Tekt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Tekt3	APN	11	62,961,064 (GRCm39)	missense	probably benign	0.19
IGL00851:Tekt3	APN	11	62,961,226 (GRCm39)	missense	probably benign	0.01
IGL01469:Tekt3	APN	11	62,964,294 (GRCm39)	missense	probably damaging	1.00
IGL02123:Tekt3	APN	11	62,974,766 (GRCm39)	missense	probably benign	0.05
R1517:Tekt3	UTSW	11	62,961,316 (GRCm39)	missense	probably damaging	1.00
R1616:Tekt3	UTSW	11	62,978,024 (GRCm39)	splice site	probably null
R1750:Tekt3	UTSW	11	62,960,867 (GRCm39)	missense	probably damaging	0.96
R2087:Tekt3	UTSW	11	62,985,523 (GRCm39)	missense	possibly damaging	0.95
R2174:Tekt3	UTSW	11	62,985,514 (GRCm39)	missense	possibly damaging	0.90
R2249:Tekt3	UTSW	11	62,974,778 (GRCm39)	missense	probably benign
R4835:Tekt3	UTSW	11	62,972,085 (GRCm39)	missense	probably benign	0.19
R5452:Tekt3	UTSW	11	62,985,619 (GRCm39)	missense	probably damaging	0.99
R5518:Tekt3	UTSW	11	62,974,768 (GRCm39)	missense	probably benign	0.00
R5946:Tekt3	UTSW	11	62,985,573 (GRCm39)	missense	probably damaging	0.98
R6150:Tekt3	UTSW	11	62,985,483 (GRCm39)	missense	possibly damaging	0.95
R6191:Tekt3	UTSW	11	62,968,999 (GRCm39)	missense	probably damaging	0.98
R6547:Tekt3	UTSW	11	62,961,304 (GRCm39)	missense	possibly damaging	0.50
R6597:Tekt3	UTSW	11	62,972,085 (GRCm39)	missense	probably benign	0.19
R7259:Tekt3	UTSW	11	62,974,592 (GRCm39)	missense	possibly damaging	0.79
R7578:Tekt3	UTSW	11	62,985,486 (GRCm39)	missense	probably damaging	0.99
R7878:Tekt3	UTSW	11	62,961,277 (GRCm39)	nonsense	probably null
R8056:Tekt3	UTSW	11	62,974,785 (GRCm39)	critical splice donor site	probably null
R8082:Tekt3	UTSW	11	62,961,056 (GRCm39)	missense	probably benign	0.00
R8104:Tekt3	UTSW	11	62,968,945 (GRCm39)	missense	probably benign	0.33
R8865:Tekt3	UTSW	11	62,961,058 (GRCm39)	missense	probably benign
R8917:Tekt3	UTSW	11	62,978,052 (GRCm39)	missense	probably damaging	0.98
R9013:Tekt3	UTSW	11	62,974,684 (GRCm39)	missense	probably damaging	1.00
R9039:Tekt3	UTSW	11	62,972,169 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- TTGAGCCTTCCATGGAGACC -3'
(R):5'- AGAGGGCCTTCAGTCTCTATC -3'

Sequencing Primer
(F):5'- TTCCATGGAGACCGAACAC -3'
(R):5'- GAGGGCCTTCAGTCTCTATCAAACC -3'

Posted On

2016-07-06