Mutagenetix > Incidental Mutation

Incidental Mutation 'R9621:Tekt2'

724780

Institutional Source

Beutler Lab

Gene Symbol

Tekt2

Ensembl Gene

ENSMUSG00000028845

Gene Name

tektin 2

Synonyms

tektin-t

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R9621 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126215914-126219481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126217444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 207 (R207H)

Ref Sequence

ENSEMBL: ENSMUSP00000030658 (fasta)

Gene Model

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

AlphaFold

Q922G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000030658
AA Change: R207H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030658
Gene: ENSMUSG00000028845
AA Change: R207H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102616
AA Change: R207H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099676
Gene: ENSMUSG00000028845
AA Change: R207H

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: 99.6%
20x: 98.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,092,918 (GRCm39)	T289A	probably benign	Het
Adnp	A	T	2: 168,024,663 (GRCm39)	S877R	probably benign	Het
Akap13	T	A	7: 75,386,090 (GRCm39)	H555Q	probably benign	Het
Alg6	T	A	4: 99,615,131 (GRCm39)	Y38*	probably null	Het
Amtn	C	A	5: 88,528,205 (GRCm39)	Q93K	probably benign	Het
Ap2b1	T	C	11: 83,293,424 (GRCm39)	V937A	probably damaging	Het
Arih1	ATCGTCCGGCTCGTCCTCGTCGTCGTCC	ATCGTCC	9: 59,393,520 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,917,512 (GRCm39)	N711D	possibly damaging	Het
Bhmt	A	G	13: 93,758,079 (GRCm39)	S211P	possibly damaging	Het
Bltp3a	T	A	17: 28,105,753 (GRCm39)	S760T	probably benign	Het
Bmp1	T	C	14: 70,715,306 (GRCm39)	Y943C	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Cbfb	A	C	8: 105,905,243 (GRCm39)	T62P	probably damaging	Het
Ccdc154	T	C	17: 25,386,355 (GRCm39)	F249L	probably damaging	Het
Cdh26	T	A	2: 178,111,983 (GRCm39)	F514L	probably damaging	Het
Cdhr2	A	G	13: 54,866,350 (GRCm39)	E352G		Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Cfdp1	A	G	8: 112,571,807 (GRCm39)	V34A	probably damaging	Het
Cntnap2	A	T	6: 46,965,726 (GRCm39)	I846F	probably damaging	Het
Cntrl	A	G	2: 35,050,278 (GRCm39)	K1464E	probably damaging	Het
Crybg3	T	C	16: 59,326,613 (GRCm39)	D1039G	possibly damaging	Het
Csmd3	A	T	15: 47,713,116 (GRCm39)	S778R		Het
Daam2	C	T	17: 49,780,332 (GRCm39)	C729Y	probably damaging	Het
Ddx18	T	C	1: 121,489,132 (GRCm39)	H305R	probably damaging	Het
Dio1	C	T	4: 107,149,558 (GRCm39)	C248Y	probably benign	Het
Dnah1	C	A	14: 31,016,772 (GRCm39)	A1582S	probably damaging	Het
Eef1a1	A	T	9: 78,386,632 (GRCm39)	D319E	probably benign	Het
Fam171b	G	A	2: 83,643,109 (GRCm39)	R6H	probably damaging	Het
Flnb	G	A	14: 7,926,421 (GRCm38)	G1822R	probably damaging	Het
Gabrb1	G	A	5: 72,279,363 (GRCm39)	V303I	possibly damaging	Het
Gli3	T	G	13: 15,901,253 (GRCm39)	S1547A	probably benign	Het
Gm4884	A	T	7: 40,693,111 (GRCm39)	N360I	possibly damaging	Het
Ift70b	T	C	2: 75,768,144 (GRCm39)	Y203C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Ino80	C	G	2: 119,280,496 (GRCm39)	K289N	probably damaging	Het
Itpr1	G	A	6: 108,393,870 (GRCm39)	E1638K	probably damaging	Het
Jakmip1	A	T	5: 37,274,812 (GRCm39)	I45F	unknown	Het
Kif1a	G	A	1: 92,983,445 (GRCm39)	P684L	probably benign	Het
Kpnb1	A	T	11: 97,058,460 (GRCm39)	S610T	probably benign	Het
Man1a2	A	G	3: 100,591,961 (GRCm39)	V73A	probably benign	Het
Mbtps1	A	G	8: 120,235,621 (GRCm39)	V1019A	possibly damaging	Het
Muc21	T	A	17: 35,932,720 (GRCm39)	T489S	unknown	Het
Nup210	G	C	6: 90,994,375 (GRCm39)	N1774K	probably benign	Het
Or10p21	G	T	10: 128,847,759 (GRCm39)	V202F	probably benign	Het
Pik3c2b	T	C	1: 132,999,345 (GRCm39)	S398P	probably damaging	Het
Pmpca	A	G	2: 26,279,988 (GRCm39)	T37A	probably benign	Het
Ppfia1	A	G	7: 144,052,516 (GRCm39)	S840P	probably damaging	Het
Prkcq	A	T	2: 11,261,014 (GRCm39)	K355N	probably benign	Het
Prorp	C	A	12: 55,429,042 (GRCm39)	H538N	probably benign	Het
Ptprg	A	G	14: 12,237,809 (GRCm38)	K1422R	probably benign	Het
Ptprq	T	C	10: 107,378,523 (GRCm39)	E2006G	probably damaging	Het
Qsox1	TG	T	1: 155,671,135 (GRCm39)		probably null	Het
Rcor2	A	T	19: 7,251,591 (GRCm39)	T412S	probably benign	Het
Rnf224	A	T	2: 25,126,200 (GRCm39)	M51K	probably benign	Het
Robo4	A	G	9: 37,317,509 (GRCm39)	D521G	probably damaging	Het
Sf3b4	T	A	3: 96,084,115 (GRCm39)	S360T	unknown	Het
Sgo2b	T	C	8: 64,380,651 (GRCm39)	D727G	probably damaging	Het
Smpd2	C	A	10: 41,364,283 (GRCm39)	V172L	probably benign	Het
Spring1	C	T	5: 118,393,880 (GRCm39)	T86I	possibly damaging	Het
Syne1	C	T	10: 5,273,887 (GRCm39)	A1966T	probably benign	Het
Syt13	G	A	2: 92,745,575 (GRCm39)	G15D	possibly damaging	Het
Taf3	A	T	2: 9,923,070 (GRCm39)	L18Q	unknown	Het
Tcam1	T	A	11: 106,176,259 (GRCm39)	N328K	probably damaging	Het
Tet2	A	T	3: 133,193,767 (GRCm39)	Y222*	probably null	Het
Timm29	A	T	9: 21,504,218 (GRCm39)		probably benign	Het
Tmc6	T	C	11: 117,669,995 (GRCm39)	D17G	probably benign	Het
Tmem30a	T	A	9: 79,687,926 (GRCm39)	D81V	probably benign	Het
Tnnt1	T	C	7: 4,511,501 (GRCm39)	I195V	probably benign	Het
Ttll5	T	A	12: 85,938,896 (GRCm39)	V398E	possibly damaging	Het
Ttn	T	C	2: 76,748,441 (GRCm39)	T4203A	possibly damaging	Het
Ubc	A	G	5: 125,464,511 (GRCm39)	I272T	probably damaging	Het
Unc45a	A	G	7: 79,983,785 (GRCm39)	L337P	probably damaging	Het
Vmn1r229	T	C	17: 21,035,315 (GRCm39)	F187L	probably benign	Het
Wrn	A	T	8: 33,814,301 (GRCm39)	M381K	probably benign	Het
Zdbf2	A	G	1: 63,342,635 (GRCm39)	N338S	possibly damaging	Het
Zfp541	A	G	7: 15,805,892 (GRCm39)	E9G	possibly damaging	Het
Zrsr2-ps1	G	A	11: 22,923,418 (GRCm39)	R64Q	possibly damaging	Het
Zswim8	T	A	14: 20,772,231 (GRCm39)	S1614T	probably benign	Het

Other mutations in Tekt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Tekt2	APN	4	126,216,982 (GRCm39)	missense	possibly damaging	0.47
IGL01900:Tekt2	APN	4	126,218,421 (GRCm39)	missense	probably benign	0.00
IGL02452:Tekt2	APN	4	126,218,645 (GRCm39)	missense	possibly damaging	0.83
IGL02563:Tekt2	APN	4	126,218,418 (GRCm39)	missense	possibly damaging	0.82
IGL03087:Tekt2	APN	4	126,218,660 (GRCm39)	missense	possibly damaging	0.63
1mM(1):Tekt2	UTSW	4	126,218,403 (GRCm39)	missense	probably damaging	0.98
R0747:Tekt2	UTSW	4	126,217,553 (GRCm39)	nonsense	probably null
R1113:Tekt2	UTSW	4	126,218,711 (GRCm39)	missense	probably damaging	0.99
R1308:Tekt2	UTSW	4	126,218,711 (GRCm39)	missense	probably damaging	0.99
R1524:Tekt2	UTSW	4	126,217,442 (GRCm39)	missense	probably benign
R1563:Tekt2	UTSW	4	126,217,200 (GRCm39)	missense	probably benign	0.16
R1819:Tekt2	UTSW	4	126,217,529 (GRCm39)	missense	probably damaging	1.00
R1930:Tekt2	UTSW	4	126,216,610 (GRCm39)	splice site	probably null
R1931:Tekt2	UTSW	4	126,216,610 (GRCm39)	splice site	probably null
R2295:Tekt2	UTSW	4	126,217,486 (GRCm39)	splice site	probably null
R4888:Tekt2	UTSW	4	126,218,460 (GRCm39)	missense	probably benign	0.02
R4902:Tekt2	UTSW	4	126,217,263 (GRCm39)	missense	possibly damaging	0.95
R5202:Tekt2	UTSW	4	126,218,463 (GRCm39)	missense	probably benign	0.41
R5219:Tekt2	UTSW	4	126,216,057 (GRCm39)	missense	possibly damaging	0.51
R5839:Tekt2	UTSW	4	126,216,629 (GRCm39)	missense	probably damaging	1.00
R6213:Tekt2	UTSW	4	126,216,989 (GRCm39)	missense	probably damaging	0.99
R6498:Tekt2	UTSW	4	126,218,098 (GRCm39)	missense	probably benign	0.01
R6963:Tekt2	UTSW	4	126,218,110 (GRCm39)	missense	probably damaging	0.98
R6988:Tekt2	UTSW	4	126,217,236 (GRCm39)	missense	probably benign	0.02
R7148:Tekt2	UTSW	4	126,216,174 (GRCm39)	missense	probably benign	0.38
R8977:Tekt2	UTSW	4	126,217,266 (GRCm39)	critical splice acceptor site	probably null
R9340:Tekt2	UTSW	4	126,216,952 (GRCm39)	missense	probably benign
R9563:Tekt2	UTSW	4	126,217,444 (GRCm39)	missense	probably damaging	1.00
R9606:Tekt2	UTSW	4	126,218,693 (GRCm39)	missense	probably benign	0.07
R9619:Tekt2	UTSW	4	126,217,444 (GRCm39)	missense	probably damaging	1.00
R9664:Tekt2	UTSW	4	126,217,444 (GRCm39)	missense	probably damaging	1.00
R9665:Tekt2	UTSW	4	126,217,444 (GRCm39)	missense	probably damaging	1.00
R9666:Tekt2	UTSW	4	126,217,444 (GRCm39)	missense	probably damaging	1.00
R9667:Tekt2	UTSW	4	126,217,444 (GRCm39)	missense	probably damaging	1.00
R9668:Tekt2	UTSW	4	126,217,444 (GRCm39)	missense	probably damaging	1.00
R9745:Tekt2	UTSW	4	126,217,444 (GRCm39)	missense	probably damaging	1.00
R9748:Tekt2	UTSW	4	126,217,444 (GRCm39)	missense	probably damaging	1.00
R9749:Tekt2	UTSW	4	126,217,444 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATTCATCCCACTGCTGCAG -3'
(R):5'- GCTGTTCTGTCTTAGATGCAGC -3'

Sequencing Primer
(F):5'- TGGAGCTGTGGAGGCAAGC -3'
(R):5'- AGTATCCCTGCAGTCCAGTGAG -3'

Posted On

2022-09-12