Mutagenetix > Incidental Mutations

Incidental Mutation 'R1517:Tekt3'

167112

Institutional Source

Beutler Lab

Gene Symbol

Tekt3

Ensembl Gene

ENSMUSG00000042189

Gene Name

tektin 3

Synonyms

4933407G07Rik

MMRRC Submission

039563-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63061654-63094964 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63070490 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 162 (H162N)

Ref Sequence

ENSEMBL: ENSMUSP00000042063 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035732
AA Change: H162N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042063
Gene: ENSMUSG00000042189
AA Change: H162N

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

Meta Mutation Damage Score

0.2021

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,971,814	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,178,800	N318S	probably damaging	Het
Akap5	A	C	12: 76,329,262	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,532,061	I385F	probably damaging	Het
Astn1	T	A	1: 158,579,576		probably benign	Het
Atp7b	T	A	8: 21,997,358	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,662,339	G325C	probably damaging	Het
Brpf1	T	A	6: 113,319,089	V781E	probably benign	Het
Cacna1c	T	A	6: 118,598,759	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,061,681	T56A	probably damaging	Het
Cep78	A	G	19: 15,959,663	S560P	probably damaging	Het
Cnot1	G	A	8: 95,743,213	T1343I	probably benign	Het
Coq10b	T	C	1: 55,064,257	S65P	probably damaging	Het
Creld1	T	A	6: 113,489,784	C243S	probably damaging	Het
Cst12	A	T	2: 148,793,252	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,698,860	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,558,136	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,407,456	S227C	probably damaging	Het
Evc	T	A	5: 37,319,035	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,300,898	L351*	probably null	Het
Fga	T	C	3: 83,031,838	S507P	probably benign	Het
Gba	A	T	3: 89,206,148	Y239F	probably damaging	Het
Golga2	C	A	2: 32,305,984	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865	L64F	probably damaging	Het
Hectd3	A	G	4: 117,002,994	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,669,421	K2812E	probably damaging	Het
Il17b	T	G	18: 61,690,245	V50G	probably damaging	Het
Itga2b	A	T	11: 102,466,325	L243*	probably null	Het
Kank4	C	A	4: 98,779,029	V394L	possibly damaging	Het
Kat14	T	A	2: 144,373,791	D65E	probably benign	Het
Kcnh3	T	C	15: 99,238,209	Y696H	probably damaging	Het
Kctd19	C	A	8: 105,395,376	D180Y	probably damaging	Het
Klra8	A	C	6: 130,115,640	S233A	probably benign	Het
Masp2	A	T	4: 148,612,106	T387S	possibly damaging	Het
Midn	C	A	10: 80,154,123	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,133,813	F965L	probably benign	Het
Myo3a	G	T	2: 22,282,634	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,165,057	N884I	probably benign	Het
Olfr1082	T	A	2: 86,594,604	T75S	probably damaging	Het
Olfr272	A	T	4: 52,911,502	C97*	probably null	Het
Olfr963	T	C	9: 39,669,720	I221T	probably damaging	Het
Osr2	T	C	15: 35,300,667	V123A	probably benign	Het
P4ha2	A	G	11: 54,117,645	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,478,098	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,489,620	M1K	probably null	Het
Pcsk1	T	A	13: 75,098,047	Y181*	probably null	Het
Pros1	G	T	16: 62,885,512	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,001	C353*	probably null	Het
Rev3l	T	C	10: 39,838,443	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rpl12-ps1	G	T	1: 36,958,377		noncoding transcript	Het
Rttn	T	C	18: 89,113,350	V1951A	probably benign	Het
Scn9a	G	A	2: 66,505,027		probably benign	Het
Sdk1	T	C	5: 142,127,836	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,354,975	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,408,847	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913	I60T	probably damaging	Het
Sox10	T	A	15: 79,159,178	E218D	probably benign	Het
Tnfsf13	T	C	11: 69,684,738	S246G	possibly damaging	Het
Trim10	T	A	17: 36,872,454	I214N	probably damaging	Het
Trp63	C	A	16: 25,889,253	D566E	probably damaging	Het
Uck2	T	C	1: 167,234,724	D156G	probably damaging	Het
Zfp386	T	A	12: 116,059,605	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,438,236	R494H	probably damaging	Het
Zfp735	A	T	11: 73,710,644	D138V	probably benign	Het
Zfyve26	T	C	12: 79,252,151	E445G	probably damaging	Het

Other mutations in Tekt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Tekt3	APN	11	63070238	missense	probably benign	0.19
IGL00851:Tekt3	APN	11	63070400	missense	probably benign	0.01
IGL01469:Tekt3	APN	11	63073468	missense	probably damaging	1.00
IGL02123:Tekt3	APN	11	63083940	missense	probably benign	0.05
R1616:Tekt3	UTSW	11	63087198	splice site	probably null
R1750:Tekt3	UTSW	11	63070041	missense	probably damaging	0.96
R2087:Tekt3	UTSW	11	63094697	missense	possibly damaging	0.95
R2174:Tekt3	UTSW	11	63094688	missense	possibly damaging	0.90
R2249:Tekt3	UTSW	11	63083952	missense	probably benign
R4835:Tekt3	UTSW	11	63081259	missense	probably benign	0.19
R5198:Tekt3	UTSW	11	63070308	missense	probably damaging	1.00
R5452:Tekt3	UTSW	11	63094793	missense	probably damaging	0.99
R5518:Tekt3	UTSW	11	63083942	missense	probably benign	0.00
R5946:Tekt3	UTSW	11	63094747	missense	probably damaging	0.98
R6150:Tekt3	UTSW	11	63094657	missense	possibly damaging	0.95
R6191:Tekt3	UTSW	11	63078173	missense	probably damaging	0.98
R6547:Tekt3	UTSW	11	63070478	missense	possibly damaging	0.50
R6597:Tekt3	UTSW	11	63081259	missense	probably benign	0.19
R7259:Tekt3	UTSW	11	63083766	missense	possibly damaging	0.79
R7578:Tekt3	UTSW	11	63094660	missense	probably damaging	0.99
R7878:Tekt3	UTSW	11	63070451	nonsense	probably null
R8056:Tekt3	UTSW	11	63083959	critical splice donor site	probably null
R8082:Tekt3	UTSW	11	63070230	missense	probably benign	0.00
R8104:Tekt3	UTSW	11	63078119	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CGCTCCAATCTAGTCAGCTTCCAG -3'
(R):5'- GCTTCGCTTTCAGAATTCGCTCAG -3'

Sequencing Primer
(F):5'- AATCTAGTCAGCTTCCAGGAGTC -3'
(R):5'- TCGCTCAGAAACTCACTATGTG -3'

Posted On

2014-04-13