Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02452:Tekt2'

293693

Institutional Source

Australian Phenomics Network (link to record)

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: 0.148) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

126322121-126325688 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126324852 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 36 (H36R)

Ref Sequence

ENSEMBL: ENSMUSP00000116659 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030658
AA Change: H36R

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030658
Gene: ENSMUSG00000028845
AA Change: H36R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102616
AA Change: H36R

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099676
Gene: ENSMUSG00000028845
AA Change: H36R

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

noncoding transcript
Transcript: ENSMUST00000128188

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131113
AA Change: H36R

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116659
Gene: ENSMUSG00000028845
AA Change: H36R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140080

Predicted Effect

probably benign
Transcript: ENSMUST00000141990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156139

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,941,970	V11F	probably damaging	Het
Alk	A	T	17: 71,902,625	Y941*	probably null	Het
Armc4	C	T	18: 7,129,461	E906K	probably damaging	Het
Blm	A	T	7: 80,503,377		probably null	Het
Blvrb	T	C	7: 27,459,340	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,317,942	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 66,007,785	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,792,626	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,811,446	S131T	probably benign	Het
Dupd1	G	A	14: 21,702,922	T52I	probably damaging	Het
Dzip3	T	A	16: 48,938,537		probably benign	Het
Espl1	T	C	15: 102,299,839	S427P	probably damaging	Het
Fasn	A	T	11: 120,808,180	D2424E	probably benign	Het
Flrt2	G	A	12: 95,779,483	M198I	probably benign	Het
Gen1	A	T	12: 11,242,575	S404R	probably benign	Het
Gm11596	A	T	11: 99,792,980	C105S	unknown	Het
Gm8765	A	T	13: 50,703,077	H917L	probably damaging	Het
Hdlbp	A	T	1: 93,417,511	V714D	probably damaging	Het
Igkv4-80	A	G	6: 69,016,832	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,171,941	W76*	probably null	Het
Ikzf1	T	C	11: 11,748,545	L132P	probably damaging	Het
Kcna6	C	A	6: 126,738,480	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,841,842	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,474,002	D175E	probably damaging	Het
Lrrtm3	T	C	10: 64,088,036	K451E	probably damaging	Het
Mcm9	C	T	10: 53,541,557	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492	S475R	probably benign	Het
Mmp24	C	T	2: 155,815,788	R533C	probably damaging	Het
Moxd1	C	T	10: 24,282,752	P435S	probably damaging	Het
Mta2	T	A	19: 8,950,306	I497N	probably benign	Het
Mtus2	T	C	5: 148,077,663	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,656,426	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,620,924		probably null	Het
Nid1	A	T	13: 13,508,720	T1128S	probably benign	Het
Olfr583	A	G	7: 103,051,931	D211G	probably benign	Het
Pcdh12	G	A	18: 38,281,693	P793L	probably benign	Het
Pclo	A	T	5: 14,676,966		probably benign	Het
Prpf31	T	A	7: 3,634,186	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,649,085	N656K	probably benign	Het
Ptprn	T	A	1: 75,258,169	H258L	probably benign	Het
Rab19	A	G	6: 39,389,798	T216A	probably benign	Het
Ryr3	A	C	2: 112,833,990	L1652W	probably damaging	Het
Six2	A	C	17: 85,685,378	S232R	possibly damaging	Het
Spag17	T	C	3: 100,027,391	V663A	probably benign	Het
Spag5	A	G	11: 78,304,623	N252S	probably benign	Het
Sptb	C	T	12: 76,609,036		probably null	Het
Synj1	A	G	16: 90,961,365		probably benign	Het
Tjp1	A	T	7: 65,312,655	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,674,795	*502Q	probably null	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
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	splice site	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
R6988:Tekt2	UTSW	4	126323443	missense	probably benign	0.02
R7148:Tekt2	UTSW	4	126322381	missense	probably benign	0.38

Posted On

2015-04-16