Mutagenetix > Incidental Mutation

Incidental Mutation 'R4604:Tekt4'

345938

Institutional Source

Beutler Lab

Gene Symbol

Tekt4

Ensembl Gene

ENSMUSG00000024175

Gene Name

tektin 4

Synonyms

MMRRC Submission

041816-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R4604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25471590-25476594 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25471775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 18 (D18E)

Ref Sequence

ENSEMBL: ENSMUSP00000025002 (fasta)

Gene Model

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

AlphaFold

Q149S1

Predicted Effect

probably benign
Transcript: ENSMUST00000025002
AA Change: D18E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025002
Gene: ENSMUSG00000024175
AA Change: D18E

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

Coding Region Coverage

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

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	C	T	2: 156,857,154 (GRCm38)		probably benign	Het
Abcb6	G	A	1: 75,179,877 (GRCm38)	T81I	probably benign	Het
Acp6	A	G	3: 97,175,759 (GRCm38)	K362R	probably benign	Het
Adam26a	A	G	8: 43,570,051 (GRCm38)	M134T	probably benign	Het
Ankrd27	C	T	7: 35,628,490 (GRCm38)	P812S	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899 (GRCm38)		probably benign	Het
Atp2a1	G	A	7: 126,448,623 (GRCm38)	R672C	probably damaging	Het
Atxn2	G	T	5: 121,781,343 (GRCm38)	W371C	probably damaging	Het
B3gnt2	T	TTCACAAA	11: 22,836,426 (GRCm38)		probably null	Het
Btnl6	T	A	17: 34,508,461 (GRCm38)	D365V	possibly damaging	Het
Ccdc80	T	A	16: 45,095,565 (GRCm38)	L228Q	probably damaging	Het
Cdc42bpa	A	G	1: 180,109,194 (GRCm38)	H718R	probably benign	Het
Cdh18	A	G	15: 23,474,368 (GRCm38)	K775E	probably benign	Het
Cdh23	T	G	10: 60,337,666 (GRCm38)	N1679T	possibly damaging	Het
Cep192	T	A	18: 67,815,922 (GRCm38)	D271E	possibly damaging	Het
Cfap70	G	T	14: 20,443,661 (GRCm38)	T124K	probably benign	Het
Ckap5	A	T	2: 91,578,131 (GRCm38)	E890D	probably benign	Het
Col22a1	G	T	15: 71,952,339 (GRCm38)	P569T	probably benign	Het
Colq	A	T	14: 31,545,103 (GRCm38)	L150Q	possibly damaging	Het
Csf1	T	C	3: 107,756,962 (GRCm38)		probably null	Het
Csmd3	A	T	15: 48,004,815 (GRCm38)	S770T	possibly damaging	Het
Cul9	C	A	17: 46,530,146 (GRCm38)	V733L	probably damaging	Het
Cyp2c55	A	G	19: 39,031,386 (GRCm38)	D256G	possibly damaging	Het
D17Wsu92e	T	C	17: 27,820,315 (GRCm38)	D7G	probably damaging	Het
Dclk3	A	T	9: 111,469,185 (GRCm38)	D599V	probably damaging	Het
Defb26	T	A	2: 152,508,184 (GRCm38)	I59F	possibly damaging	Het
Dnah6	A	G	6: 73,129,660 (GRCm38)	V1646A	possibly damaging	Het
Dnm2	T	C	9: 21,504,664 (GRCm38)		probably null	Het
Dock6	A	G	9: 21,802,540 (GRCm38)	L1867P	probably damaging	Het
Dock9	G	T	14: 121,668,459 (GRCm38)	T93K	probably damaging	Het
Dync2h1	T	C	9: 7,140,995 (GRCm38)	H1344R	probably benign	Het
Enam	A	C	5: 88,504,283 (GRCm38)	Q1217P	possibly damaging	Het
Fbf1	A	T	11: 116,158,922 (GRCm38)	D91E	possibly damaging	Het
Fbxo7	T	G	10: 86,046,802 (GRCm38)	W393G	probably damaging	Het
Gab2	A	G	7: 97,304,213 (GRCm38)	T599A	probably damaging	Het
Gfy	T	A	7: 45,177,188 (GRCm38)	I409F	possibly damaging	Het
Gm19345	T	A	7: 19,857,508 (GRCm38)		probably null	Het
Gm4787	A	G	12: 81,379,213 (GRCm38)	M57T	probably benign	Het
Gper1	A	G	5: 139,426,725 (GRCm38)	E275G	probably damaging	Het
Grik4	T	C	9: 42,524,586 (GRCm38)	E803G	probably damaging	Het
Gstm3	G	A	3: 107,968,197 (GRCm38)	P39L	possibly damaging	Het
Hax1	A	T	3: 89,997,460 (GRCm38)	V142D	probably damaging	Het
Hcn3	A	T	3: 89,150,440 (GRCm38)	I383N	probably damaging	Het
Hdac10	C	A	15: 89,125,397 (GRCm38)		probably null	Het
Hipk3	A	C	2: 104,439,329 (GRCm38)	M505R	probably damaging	Het
Hivep1	C	T	13: 42,159,749 (GRCm38)	P1822S	probably benign	Het
Hsd17b13	G	T	5: 103,956,258 (GRCm38)	H281N	unknown	Het
Irak2	T	A	6: 113,672,887 (GRCm38)	I222N	probably damaging	Het
Kalrn	G	A	16: 34,513,926 (GRCm38)	L7F	possibly damaging	Het
Kcnma1	A	G	14: 23,309,038 (GRCm38)		probably null	Het
Kcnn3	G	T	3: 89,520,420 (GRCm38)		probably benign	Het
Lamb1	A	C	12: 31,278,776 (GRCm38)	D218A	probably damaging	Het
Lrrtm1	A	T	6: 77,244,144 (GRCm38)	N195Y	probably damaging	Het
Ltf	A	T	9: 111,022,341 (GRCm38)	N72I	probably damaging	Het
Mcm4	A	G	16: 15,629,663 (GRCm38)	I479T	probably damaging	Het
Mfhas1	T	C	8: 35,588,610 (GRCm38)	S80P	probably benign	Het
Mknk1	A	G	4: 115,878,027 (GRCm38)	E364G	probably damaging	Het
Msh4	C	T	3: 153,872,283 (GRCm38)	C458Y	probably damaging	Het
Mtrr	A	T	13: 68,564,512 (GRCm38)		probably null	Het
Myo1a	T	C	10: 127,711,138 (GRCm38)	W356R	probably damaging	Het
Nbea	A	G	3: 55,723,648 (GRCm38)	V2186A	probably benign	Het
Nfe2l3	T	C	6: 51,451,012 (GRCm38)	S185P	probably damaging	Het
Nhsl1	A	C	10: 18,531,410 (GRCm38)	K1397Q	probably damaging	Het
Nmbr	C	T	10: 14,770,164 (GRCm38)	R261W	probably damaging	Het
Npy2r	A	G	3: 82,541,058 (GRCm38)	S137P	probably damaging	Het
Obscn	C	T	11: 59,080,205 (GRCm38)	G2494D	probably damaging	Het
Obscn	T	C	11: 59,122,746 (GRCm38)	K1092E	probably damaging	Het
Olfr1019	C	T	2: 85,841,182 (GRCm38)	C203Y	probably damaging	Het
Oosp2	A	C	19: 11,649,683 (GRCm38)	I92S	probably benign	Het
Pcdh9	T	C	14: 93,887,180 (GRCm38)	D518G	probably damaging	Het
Pde11a	G	T	2: 76,337,793 (GRCm38)	T272K	possibly damaging	Het
Plekha2	T	A	8: 25,059,835 (GRCm38)	Q162L	probably null	Het
Prkag2	T	A	5: 24,878,734 (GRCm38)	I84F	probably damaging	Het
Prm2	G	T	16: 10,791,749 (GRCm38)		probably benign	Het
Prpf40a	A	T	2: 53,142,023 (GRCm38)	C800S	probably damaging	Het
Prr5l	A	T	2: 101,729,448 (GRCm38)	C158S	probably benign	Het
Prrt3	C	A	6: 113,498,237 (GRCm38)	C8F	possibly damaging	Het
Psg25	T	C	7: 18,529,803 (GRCm38)	T32A	probably benign	Het
Ruvbl1	T	C	6: 88,485,905 (GRCm38)	V337A	probably benign	Het
Sall1	T	A	8: 89,030,341 (GRCm38)	Q1045L	probably damaging	Het
Sec22c	T	C	9: 121,695,642 (GRCm38)	Y25C	probably damaging	Het
Serpina3i	A	T	12: 104,267,777 (GRCm38)	T335S	possibly damaging	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,152,074 (GRCm38)		probably benign	Het
Slc12a8	T	A	16: 33,608,159 (GRCm38)	I279N	probably damaging	Het
Slc15a1	G	A	14: 121,489,907 (GRCm38)	T83I	probably damaging	Het
Slc22a3	A	G	17: 12,459,771 (GRCm38)	F222S	probably benign	Het
Sorcs3	A	T	19: 48,693,914 (GRCm38)	T463S	probably benign	Het
Spsb4	C	A	9: 96,995,878 (GRCm38)	A131S	probably benign	Het
Syne2	A	G	12: 75,967,710 (GRCm38)	E3225G	probably damaging	Het
Tchp	G	A	5: 114,719,573 (GRCm38)		probably null	Het
Timm50	A	G	7: 28,311,018 (GRCm38)	V37A	probably benign	Het
Tlx2	A	C	6: 83,068,760 (GRCm38)	*285G	probably null	Het
Tmem173	T	A	18: 35,738,690 (GRCm38)	I170F	probably damaging	Het
Tshz1	C	A	18: 84,013,374 (GRCm38)	D970Y	probably damaging	Het
Ttn	A	T	2: 76,870,461 (GRCm38)	V50E	probably damaging	Het
Txndc17	T	A	11: 72,209,448 (GRCm38)	S113T	probably benign	Het
Tyk2	T	C	9: 21,108,009 (GRCm38)	Y1039C	probably damaging	Het
Ubqln3	A	G	7: 104,142,491 (GRCm38)	S131P	probably benign	Het
Uncx	A	T	5: 139,544,082 (GRCm38)	H30L	possibly damaging	Het
Usp25	T	A	16: 77,115,415 (GRCm38)	D1007E	probably damaging	Het
Usp47	T	C	7: 112,101,831 (GRCm38)	V1083A	probably damaging	Het
Wdr24	T	A	17: 25,828,505 (GRCm38)	H765Q	probably damaging	Het
Wrnip1	A	G	13: 32,802,347 (GRCm38)	D37G	probably damaging	Het
Xpo6	T	C	7: 126,113,752 (GRCm38)	T686A	possibly damaging	Het
Zfp941	G	A	7: 140,812,211 (GRCm38)	R412C	probably damaging	Het
Znrf2	T	A	6: 54,878,440 (GRCm38)	C71*	probably null	Het

Other mutations in Tekt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Tekt4	APN	17	25,476,384 (GRCm38)	missense	probably benign	0.31
IGL02657:Tekt4	APN	17	25,473,758 (GRCm38)	missense	possibly damaging	0.93
R0788:Tekt4	UTSW	17	25,472,047 (GRCm38)	missense	probably damaging	1.00
R1280:Tekt4	UTSW	17	25,471,887 (GRCm38)	missense	probably damaging	1.00
R1466:Tekt4	UTSW	17	25,472,074 (GRCm38)	missense	probably benign	0.29
R1466:Tekt4	UTSW	17	25,472,074 (GRCm38)	missense	probably benign	0.29
R1819:Tekt4	UTSW	17	25,473,811 (GRCm38)	splice site	probably null
R1902:Tekt4	UTSW	17	25,471,858 (GRCm38)	missense	possibly damaging	0.63
R2262:Tekt4	UTSW	17	25,476,511 (GRCm38)	missense	possibly damaging	0.76
R2263:Tekt4	UTSW	17	25,476,511 (GRCm38)	missense	possibly damaging	0.76
R4010:Tekt4	UTSW	17	25,476,486 (GRCm38)	missense	probably damaging	1.00
R5085:Tekt4	UTSW	17	25,473,775 (GRCm38)	missense	probably damaging	0.99
R6187:Tekt4	UTSW	17	25,472,223 (GRCm38)	missense	probably damaging	1.00
R7102:Tekt4	UTSW	17	25,474,744 (GRCm38)	missense	probably damaging	0.99
R8726:Tekt4	UTSW	17	25,472,059 (GRCm38)	missense	probably damaging	1.00
R9178:Tekt4	UTSW	17	25,471,927 (GRCm38)	missense	possibly damaging	0.73
R9616:Tekt4	UTSW	17	25,473,808 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAACCAGGAACCTTGCTTGG -3'
(R):5'- CACCTTTCTTGTGGAGTCAAGTTG -3'

Sequencing Primer
(F):5'- ACCTTGCTTGGGACAGAGTGAC -3'
(R):5'- CCAGTCTCGGCTACCAGC -3'

Posted On

2015-09-25