Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01571:Tekt4'

93300

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: 0.111) question?

Stock #

IGL01571

Quality Score

Status

Chromosome

Chromosomal Location

25471590-25476594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25476384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 397 (D397G)

Ref Sequence

ENSEMBL: ENSMUSP00000025002 (fasta)

Gene Model

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

AlphaFold

Q149S1

Predicted Effect

probably benign
Transcript: ENSMUST00000025002
AA Change: D397G

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025002
Gene: ENSMUSG00000024175
AA Change: D397G

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,539,081		probably benign	Het
Cep164	T	C	9: 45,794,338	Q127R	possibly damaging	Het
Ces1f	T	A	8: 93,258,368	M444L	probably benign	Het
Chd5	T	A	4: 152,384,115		probably benign	Het
Cpd	T	A	11: 76,782,296	Y1341F	probably damaging	Het
Cryz	T	C	3: 154,621,743	I268T	probably damaging	Het
Csnk2a1	G	A	2: 152,275,406	R278H	probably damaging	Het
Cyp4a12b	A	G	4: 115,438,157	I487V	probably benign	Het
Dnajb5	T	C	4: 42,956,516		probably benign	Het
Dxo	A	T	17: 34,839,040	H214L	probably damaging	Het
Etfb	T	C	7: 43,452,959		probably null	Het
G6pc2	G	A	2: 69,222,967	V122I	probably damaging	Het
Gm5431	A	T	11: 48,894,713	D278E	probably benign	Het
Gstt2	C	T	10: 75,834,171		probably benign	Het
Hnf4g	A	C	3: 3,651,266		probably benign	Het
Ifi44	T	C	3: 151,745,537	D259G	probably damaging	Het
Klk1	T	C	7: 44,228,596	V92A	probably damaging	Het
Lypla1	T	C	1: 4,844,988	I222T	probably benign	Het
Nbeal2	T	C	9: 110,632,758	N1510D	possibly damaging	Het
Ndufaf7	A	G	17: 78,943,852	R229G	probably damaging	Het
Nphp4	G	A	4: 152,556,382	V1069M	probably benign	Het
Nsd2	A	G	5: 33,864,687	H528R	probably benign	Het
Olfr1298	C	A	2: 111,645,380	V206L	probably benign	Het
Olfr1355	A	G	10: 78,879,837	I222V	possibly damaging	Het
Olfr763	A	T	10: 129,011,827	I181F	probably damaging	Het
Pigh	A	C	12: 79,085,860		probably benign	Het
Prr14l	A	T	5: 32,828,806	M1115K	probably benign	Het
Psg21	T	C	7: 18,654,825	D114G	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Pygb	T	C	2: 150,830,473	S831P	probably benign	Het
Ryr2	T	A	13: 11,721,761	D2260V	probably damaging	Het
Sgo2a	T	C	1: 58,017,974	S1106P	probably damaging	Het
Slc5a5	G	A	8: 70,891,332		probably benign	Het
Trrap	T	A	5: 144,833,287		probably benign	Het
Upf2	T	C	2: 6,018,939		probably benign	Het
Usp17lb	A	T	7: 104,840,381	N445K	possibly damaging	Het
Vmn2r111	A	G	17: 22,571,392	V211A	probably damaging	Het
Vmn2r23	A	G	6: 123,704,407	I91M	probably damaging	Het
Vps13b	C	T	15: 35,877,489		probably benign	Het
Zc3hc1	G	A	6: 30,390,863	T47I	probably benign	Het

Other mutations in Tekt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-12-09