Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Tekt4'

302364

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tekt4

Ensembl Gene

ENSMUSG00000024175

Gene Name

tektin 4

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

25471590-25476594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25473758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 186 (I186T)

Ref Sequence

ENSEMBL: ENSMUSP00000025002 (fasta)

Gene Model

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

AlphaFold

Q149S1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025002
AA Change: I186T

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025002
Gene: ENSMUSG00000024175
AA Change: I186T

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

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	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
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
R9178:Tekt4	UTSW	17	25471927	missense	possibly damaging	0.73
R9616:Tekt4	UTSW	17	25473808	critical splice donor site	probably null

Posted On

2015-04-16