Mutagenetix > Incidental Mutation

Incidental Mutation 'R3832:Tekt1'

274074

Institutional Source

Beutler Lab

Gene Symbol

Tekt1

Ensembl Gene

ENSMUSG00000020799

Gene Name

tektin 1

Synonyms

MT14

MMRRC Submission

040887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R3832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72235548-72253268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72245645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 170 (N170S)

Ref Sequence

ENSEMBL: ENSMUSP00000104143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021155] [ENSMUST00000108502] [ENSMUST00000108503]

AlphaFold

Q9DAJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000021155
AA Change: N170S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021155
Gene: ENSMUSG00000020799
AA Change: N170S

Domain	Start	End	E-Value	Type
Pfam:Tektin	16	398	1.3e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108502
AA Change: N170S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104142
Gene: ENSMUSG00000020799
AA Change: N170S

Domain	Start	End	E-Value	Type
Pfam:Tektin	16	399	5.5e-152	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108503
AA Change: N170S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104143
Gene: ENSMUSG00000020799
AA Change: N170S

Domain	Start	End	E-Value	Type
Pfam:Tektin	16	399	5.5e-152	PFAM

Meta Mutation Damage Score

0.0699

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (54/55)

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 predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Aldh1a7	T	C	19: 20,685,602 (GRCm39)	Y316C	probably damaging	Het
Arhgef38	T	C	3: 132,912,686 (GRCm39)	R118G	possibly damaging	Het
Bcar3	A	G	3: 122,220,298 (GRCm39)	D65G	probably damaging	Het
Cacna1i	T	C	15: 80,240,388 (GRCm39)	F370S	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Cblc	T	C	7: 19,526,097 (GRCm39)	M238V	probably damaging	Het
Ccdc3	A	G	2: 5,233,953 (GRCm39)	N259S	probably benign	Het
Cep55	A	G	19: 38,041,560 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,546,951 (GRCm39)	D757G	unknown	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Erich3	G	A	3: 154,467,998 (GRCm39)	V817M	probably damaging	Het
Gdf6	T	C	4: 9,844,568 (GRCm39)	S31P	probably benign	Het
Gtsf1	T	C	15: 103,333,902 (GRCm39)	I25V	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klhl28	C	A	12: 64,998,195 (GRCm39)	G433V	probably damaging	Het
Lipn	T	C	19: 34,046,933 (GRCm39)		probably null	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Or14c44	A	T	7: 86,062,401 (GRCm39)	Y277F	probably damaging	Het
Or14j5	T	C	17: 38,162,071 (GRCm39)	V196A	probably benign	Het
Otud1	G	C	2: 19,662,951 (GRCm39)	A27P	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pdzd7	A	T	19: 45,028,693 (GRCm39)	V150E	probably damaging	Het
Peak1	T	C	9: 56,165,667 (GRCm39)	S754G	probably benign	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Phlpp1	G	A	1: 106,320,327 (GRCm39)	E1441K	probably damaging	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pikfyve	G	A	1: 65,283,579 (GRCm39)	V739I	probably damaging	Het
Plcg1	T	G	2: 160,596,357 (GRCm39)	M651R	possibly damaging	Het
Prex2	T	C	1: 11,226,588 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rab11fip1	G	A	8: 27,642,774 (GRCm39)	T675I	probably benign	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Slc39a8	T	A	3: 135,554,894 (GRCm39)	C113S	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,292 (GRCm39)	S182G	probably damaging	Het
Tecta	A	C	9: 42,250,329 (GRCm39)	F1816C	probably damaging	Het
Trim47	T	C	11: 115,998,783 (GRCm39)	T279A	probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Vcam1	T	C	3: 115,908,140 (GRCm39)	T641A	possibly damaging	Het
Vmn1r16	A	G	6: 57,300,212 (GRCm39)	F137L	probably benign	Het
Vmn2r17	T	A	5: 109,576,262 (GRCm39)	W378R	probably damaging	Het
Zfp777	T	C	6: 48,021,149 (GRCm39)	T158A	probably benign	Het
Zp1	T	C	19: 10,893,888 (GRCm39)	D439G	probably damaging	Het

Other mutations in Tekt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4544001:Tekt1	UTSW	11	72,245,660 (GRCm39)	missense	probably damaging	1.00
R0463:Tekt1	UTSW	11	72,242,778 (GRCm39)	missense	probably damaging	1.00
R0531:Tekt1	UTSW	11	72,236,420 (GRCm39)	missense	possibly damaging	0.67
R1190:Tekt1	UTSW	11	72,246,039 (GRCm39)	missense	probably damaging	1.00
R1908:Tekt1	UTSW	11	72,242,761 (GRCm39)	missense	probably benign	0.41
R3783:Tekt1	UTSW	11	72,235,720 (GRCm39)	missense	probably damaging	1.00
R3784:Tekt1	UTSW	11	72,235,720 (GRCm39)	missense	probably damaging	1.00
R3785:Tekt1	UTSW	11	72,235,720 (GRCm39)	missense	probably damaging	1.00
R3787:Tekt1	UTSW	11	72,235,720 (GRCm39)	missense	probably damaging	1.00
R3831:Tekt1	UTSW	11	72,245,645 (GRCm39)	missense	probably benign	0.03
R3833:Tekt1	UTSW	11	72,245,645 (GRCm39)	missense	probably benign	0.03
R3916:Tekt1	UTSW	11	72,236,574 (GRCm39)	missense	possibly damaging	0.83
R3917:Tekt1	UTSW	11	72,236,574 (GRCm39)	missense	possibly damaging	0.83
R5645:Tekt1	UTSW	11	72,242,663 (GRCm39)	missense	probably benign	0.02
R7740:Tekt1	UTSW	11	72,250,544 (GRCm39)	missense	probably benign	0.03
R8472:Tekt1	UTSW	11	72,242,850 (GRCm39)	missense	possibly damaging	0.61
Z1176:Tekt1	UTSW	11	72,236,524 (GRCm39)	missense	probably damaging	0.99
Z1186:Tekt1	UTSW	11	72,250,597 (GRCm39)	missense	probably benign
Z1187:Tekt1	UTSW	11	72,250,597 (GRCm39)	missense	probably benign
Z1188:Tekt1	UTSW	11	72,250,597 (GRCm39)	missense	probably benign
Z1189:Tekt1	UTSW	11	72,250,597 (GRCm39)	missense	probably benign
Z1190:Tekt1	UTSW	11	72,250,597 (GRCm39)	missense	probably benign
Z1191:Tekt1	UTSW	11	72,250,597 (GRCm39)	missense	probably benign
Z1192:Tekt1	UTSW	11	72,250,597 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTCTAGGATGCTTCCCTTG -3'
(R):5'- TCCAGTTTGGCAGAGGATTTC -3'

Sequencing Primer
(F):5'- CCTTGGCCCTGTCAGATTGATAG -3'
(R):5'- TTGGTCTCCAAGCATCATCTGG -3'

Posted On

2015-04-02