Mutagenetix > Incidental Mutation

Incidental Mutation 'R3787:Tekt1'

272328

Institutional Source

Beutler Lab

Gene Symbol

Tekt1

Ensembl Gene

ENSMUSG00000020799

Gene Name

tektin 1

Synonyms

MT14

MMRRC Submission

040754-MU

Accession Numbers

Essential gene?

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

Stock #

R3787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72235548-72253268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72235720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 376 (I376T)

Ref Sequence

ENSEMBL: ENSMUSP00000104143 (fasta)

Gene Model

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

AlphaFold

Q9DAJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021155
AA Change: I376T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021155
Gene: ENSMUSG00000020799
AA Change: I376T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108502
AA Change: I376T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104142
Gene: ENSMUSG00000020799
AA Change: I376T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108503
AA Change: I376T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104143
Gene: ENSMUSG00000020799
AA Change: I376T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158122

Meta Mutation Damage Score

0.5797

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	T	5: 139,441,197 (GRCm39)	P35Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Aprt	T	C	8: 123,302,268 (GRCm39)	D65G	probably benign	Het
Auh	C	A	13: 53,083,493 (GRCm39)	R62L	possibly damaging	Het
Bmp4	C	T	14: 46,623,171 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,964,653 (GRCm39)	D1514Y	probably damaging	Het
Carmil3	T	C	14: 55,734,433 (GRCm39)	F418S	probably damaging	Het
Ccdc112	C	T	18: 46,432,365 (GRCm39)	R72H	probably benign	Het
Ccdc138	T	C	10: 58,374,092 (GRCm39)	Y371H	probably damaging	Het
Chsy3	T	C	18: 59,542,070 (GRCm39)	Y403H	probably damaging	Het
Cul4a	T	C	8: 13,183,668 (GRCm39)	V352A	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dmxl2	T	C	9: 54,277,162 (GRCm39)	D2893G	probably damaging	Het
Dnah8	A	G	17: 30,974,015 (GRCm39)	D2800G	probably damaging	Het
Dnaja2	C	T	8: 86,267,015 (GRCm39)	G281R	probably damaging	Het
Exo1	A	G	1: 175,727,035 (GRCm39)	T449A	probably benign	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Fmo1	A	T	1: 162,657,583 (GRCm39)	S519R	possibly damaging	Het
Fryl	T	C	5: 73,258,819 (GRCm39)	Y655C	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mcm9	A	G	10: 53,492,076 (GRCm39)	V415A	possibly damaging	Het
Mki67	A	T	7: 135,302,012 (GRCm39)	N1007K	possibly damaging	Het
Mpped1	A	T	15: 83,680,784 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,380,670 (GRCm39)	V116A	probably damaging	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nfs1	A	G	2: 155,970,503 (GRCm39)	I270T	possibly damaging	Het
Nr1i3	A	G	1: 171,041,994 (GRCm39)	D26G	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Or13a28	G	A	7: 140,217,748 (GRCm39)	V45I	probably benign	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Pde4dip	G	T	3: 97,622,868 (GRCm39)	P1447Q	possibly damaging	Het
Plxna2	A	G	1: 194,326,242 (GRCm39)	T59A	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r12c	G	A	7: 4,489,583 (GRCm39)	A193V	probably damaging	Het
Pramel48	T	A	5: 95,630,756 (GRCm39)	L211Q	probably damaging	Het
Prdm15	G	T	16: 97,598,945 (GRCm39)	H904Q	probably benign	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Reep1	T	A	6: 71,772,199 (GRCm39)	D162E	probably damaging	Het
Rev3l	T	A	10: 39,722,206 (GRCm39)	L2528Q	probably damaging	Het
Rfc1	A	T	5: 65,453,357 (GRCm39)	S264T	probably benign	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sipa1l2	C	T	8: 126,149,944 (GRCm39)	A1602T	probably benign	Het
Sipa1l2	C	A	8: 126,177,122 (GRCm39)	C1164F	possibly damaging	Het
Slc4a1ap	T	A	5: 31,685,483 (GRCm39)	L254I	possibly damaging	Het
Slc5a3	A	G	16: 91,874,816 (GRCm39)	N291S	possibly damaging	Het
Stab2	T	A	10: 86,805,141 (GRCm39)	D279V	possibly damaging	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tro	G	A	X: 149,438,048 (GRCm39)	T203I	possibly damaging	Het
Txnl4b	C	T	8: 110,299,409 (GRCm39)	A123V	probably damaging	Het
Vmn1r63	T	A	7: 5,805,751 (GRCm39)	M294L	probably benign	Het
Vmn2r58	C	T	7: 41,513,498 (GRCm39)	D382N	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	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
R3831:Tekt1	UTSW	11	72,245,645 (GRCm39)	missense	probably benign	0.03
R3832: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'- CACCTGAAATGAGAGCTCTGTGC -3'
(R):5'- CACTGCCTAGAGAAGCAAGG -3'

Sequencing Primer
(F):5'- GTGCTAACTCTTGTCTTACGATGCAG -3'
(R):5'- TGTGATTATCCCTCACGC -3'

Posted On

2015-03-25