Mutagenetix > Incidental Mutations

Incidental Mutation 'R6988:Tekt2'

543068

Institutional Source

Beutler Lab

Gene Symbol

Tekt2

Ensembl Gene

ENSMUSG00000028845

Gene Name

tektin 2

Synonyms

tektin-t

Accession Numbers

Genbank: NM_011902.2; Ensembl: ENSMUST00000102616

Is this an essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126322121-126325688 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126323443 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 221 (F221L)

Ref Sequence

ENSEMBL: ENSMUSP00000099676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030658] [ENSMUST00000102616] [ENSMUST00000102617] [ENSMUST00000131113] [ENSMUST00000141990]

Predicted Effect

probably benign
Transcript: ENSMUST00000030658
AA Change: F221L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000030658
Gene: ENSMUSG00000028845
AA Change: F221L

Domain	Start	End	E-Value	Type
Pfam:Tektin	17	399	2.1e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102616
AA Change: F221L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099676
Gene: ENSMUSG00000028845
AA Change: F221L

Domain	Start	End	E-Value	Type
Pfam:Tektin	17	398	1.9e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102617

SMART Domains

Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:ADP_ribosyl_GH	31	344	1.5e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131113

SMART Domains

Protein: ENSMUSP00000116659
Gene: ENSMUSG00000028845

Domain	Start	End	E-Value	Type
Pfam:Tektin	17	126	9.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141990

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

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. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit male infertility and impaired motility of both sperm flagella and tracheal cilia due to altered dynein inner arm morphology and function. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Gene trapped(2)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,454,579	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,411,756	V31I	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,899	D1759G	possibly damaging	Het
Adgre1	C	T	17: 57,408,445	S255F	probably benign	Het
Aff4	T	G	11: 53,398,237	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,233,758		probably benign	Het
Ankrd31	T	A	13: 96,878,249	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,518,125	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,916,923	V332I	probably benign	Het
AY358078	A	G	14: 51,826,187	E430G	probably damaging	Het
B4gat1	T	A	19: 5,040,434	I395N	probably benign	Het
Bub1b	T	A	2: 118,636,830	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,355,709	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885	I87N	probably damaging	Het
Ces2g	G	C	8: 104,963,908	G107A	probably benign	Het
Chpt1	A	G	10: 88,488,406	V180A	probably damaging	Het
Col2a1	T	C	15: 98,004,454	T14A	unknown	Het
Dnah7a	T	C	1: 53,582,625	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,666,213	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,643,275	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,714,210	E3993G	probably damaging	Het
Erv3	C	T	2: 131,855,966	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,609,091	F647I	probably damaging	Het
Fbrs	G	A	7: 127,479,508		probably benign	Het
Fgfr1op2	T	C	6: 146,589,965	F109L	probably damaging	Het
Fv1	T	C	4: 147,869,271	F98S	possibly damaging	Het
Gm436	A	G	4: 144,686,325	F15S	probably benign	Het
H2-M10.1	T	C	17: 36,325,592	K107E	probably benign	Het
Hspg2	A	T	4: 137,528,890	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,802,763	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,396,585	V102I	probably benign	Het
Mnt	C	A	11: 74,842,809		probably benign	Het
Mrpl15	T	C	1: 4,782,660	T112A	probably benign	Het
Ncdn	T	C	4: 126,747,189	D506G	probably benign	Het
Ogdh	C	T	11: 6,313,806	R81*	probably null	Het
Olfr791	T	A	10: 129,526,673	S149T	probably benign	Het
Olfr815	G	C	10: 129,902,409	F100L	probably damaging	Het
Pole	G	T	5: 110,329,583	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,274,007		probably benign	Het
Rabep1	A	G	11: 70,934,537	K636E	probably damaging	Het
Rasgrf2	T	A	13: 91,885,635	Y1151F	probably benign	Het
Rrad	A	G	8: 104,630,636	V93A	probably damaging	Het
Sesn3	A	T	9: 14,310,257	R118*	probably null	Het
Slc27a3	T	C	3: 90,386,290	N596S	probably benign	Het
Snx19	C	A	9: 30,428,935	D456E	probably damaging	Het
Supt20	T	C	3: 54,698,597	S35P	probably damaging	Het
Syde2	G	T	3: 146,019,809	R885L	probably benign	Het
Synm	G	A	7: 67,733,658	L1419F	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Tmem39b	A	G	4: 129,693,148	I90T	possibly damaging	Het
Trib2	A	G	12: 15,815,338	S79P	probably damaging	Het
Usp32	T	C	11: 85,010,143	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,984,847	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,511	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716	E1357G	probably benign	Het
Zhx3	A	G	2: 160,779,868	M793T	probably benign	Het

Other mutations in Tekt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Tekt2	APN	4	126323189	missense	possibly damaging	0.47
IGL01900:Tekt2	APN	4	126324628	missense	probably benign	0.00
IGL02452:Tekt2	APN	4	126324852	missense	possibly damaging	0.83
IGL02563:Tekt2	APN	4	126324625	missense	possibly damaging	0.82
IGL03087:Tekt2	APN	4	126324867	missense	possibly damaging	0.63
1mM(1):Tekt2	UTSW	4	126324610	missense	probably damaging	0.98
R0747:Tekt2	UTSW	4	126323760	nonsense	probably null
R1113:Tekt2	UTSW	4	126324918	missense	probably damaging	0.99
R1308:Tekt2	UTSW	4	126324918	missense	probably damaging	0.99
R1524:Tekt2	UTSW	4	126323649	missense	probably benign
R1563:Tekt2	UTSW	4	126323407	missense	probably benign	0.16
R1819:Tekt2	UTSW	4	126323736	missense	probably damaging	1.00
R1930:Tekt2	UTSW	4	126322817	splice site	probably null
R1931:Tekt2	UTSW	4	126322817	splice site	probably null
R2295:Tekt2	UTSW	4	126323693	unclassified	probably null
R4888:Tekt2	UTSW	4	126324667	missense	probably benign	0.02
R4902:Tekt2	UTSW	4	126323470	missense	possibly damaging	0.95
R5202:Tekt2	UTSW	4	126324670	missense	probably benign	0.41
R5219:Tekt2	UTSW	4	126322264	missense	possibly damaging	0.51
R5839:Tekt2	UTSW	4	126322836	missense	probably damaging	1.00
R6213:Tekt2	UTSW	4	126323196	missense	probably damaging	0.99
R6498:Tekt2	UTSW	4	126324305	missense	probably benign	0.01
R6963:Tekt2	UTSW	4	126324317	missense	probably damaging	0.98
R7148:Tekt2	UTSW	4	126322381	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- AGCGTCCAGTTCATTGTTGG -3'
(R):5'- AGTCAGTCCTTTCTGTGTGC -3'

Sequencing Primer
(F):5'- CCAGAAGAGGGTGTCATGGCC -3'
(R):5'- GCCTTGTGTGTCCCTGTGAC -3'

Posted On

2018-11-28