Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Tekt2'

418172

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: 0.241) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

126322121-126325688 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126324867 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 31 (Q31L)

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: Q31L

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030658
Gene: ENSMUSG00000028845
AA Change: Q31L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102616
AA Change: Q31L

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099676
Gene: ENSMUSG00000028845
AA Change: Q31L

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: Q31L

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116659
Gene: ENSMUSG00000028845
AA Change: Q31L

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap1g2	G	A	14: 55,103,036	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Eno4	A	G	19: 58,962,816	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Igsf9	T	C	1: 172,490,743	I150T	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr530	T	A	7: 140,373,092	I173F	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pfpl	A	G	19: 12,428,877	N164S	probably benign	Het
Pi4kb	A	G	3: 94,984,764	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,652,968	A495D	possibly damaging	Het
Sept4	T	A	11: 87,585,245		probably benign	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Slc44a2	C	T	9: 21,346,765	T435I	probably benign	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Trmt1	A	G	8: 84,695,233	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	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
IGL02452:Tekt2	APN	4	126324852	missense	possibly damaging	0.83
IGL02563:Tekt2	APN	4	126324625	missense	possibly damaging	0.82
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

2016-08-02