Mutagenetix > Incidental Mutation

Incidental Mutation 'R8382:Tekt5'

646996

Institutional Source

Beutler Lab

Gene Symbol

Tekt5

Ensembl Gene

ENSMUSG00000039179

Gene Name

tektin 5

Synonyms

3300001K11Rik

MMRRC Submission

067896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10175816-10213319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10212928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 119 (D119G)

Ref Sequence

ENSEMBL: ENSMUSP00000046824 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043415] [ENSMUST00000115831]

AlphaFold

G5E8A8

Predicted Effect

probably benign
Transcript: ENSMUST00000043415
AA Change: D119G

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046824
Gene: ENSMUSG00000039179
AA Change: D119G

Domain	Start	End	E-Value	Type
Pfam:Tektin	95	477	3.9e-136	PFAM
low complexity region	515	540	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115831
AA Change: D119G

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111497
Gene: ENSMUSG00000039179
AA Change: D119G

Domain	Start	End	E-Value	Type
Pfam:Tektin	95	415	8.3e-111	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

94% (33/35)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,537,645 (GRCm39)	R689G	probably benign	Het
Anapc4	T	A	5: 53,016,277 (GRCm39)		probably null	Het
Atg9a	G	A	1: 75,162,342 (GRCm39)	Q523*	probably null	Het
Cacna1i	G	A	15: 80,261,017 (GRCm39)	V1342M	probably damaging	Het
Cblif	A	T	19: 11,727,090 (GRCm39)	T100S	probably benign	Het
Ccdc87	A	G	19: 4,890,018 (GRCm39)	D170G	possibly damaging	Het
Cpsf1	A	G	15: 76,485,151 (GRCm39)	V541A	probably benign	Het
Depdc5	C	T	5: 33,085,242 (GRCm39)	T687M	probably benign	Het
Ear6	T	C	14: 52,091,570 (GRCm39)	I39T	probably damaging	Het
Fcgbp	C	T	7: 27,816,762 (GRCm39)	A2408V	probably benign	Het
Frmd4b	G	A	6: 97,282,209 (GRCm39)	T539I	probably benign	Het
Gm19410	T	A	8: 36,276,302 (GRCm39)	V1653D	probably damaging	Het
Jade1	A	G	3: 41,519,369 (GRCm39)		probably null	Het
Kncn	A	G	4: 115,743,947 (GRCm39)	N75S	probably benign	Het
Lig4	C	T	8: 10,022,346 (GRCm39)	G478D	probably damaging	Het
Med24	G	A	11: 98,608,537 (GRCm39)	T205I	unknown	Het
Meiob	A	G	17: 25,046,913 (GRCm39)	E179G	possibly damaging	Het
Nalf1	T	C	8: 9,257,972 (GRCm39)	E392G	probably benign	Het
Or10d5	A	G	9: 39,861,455 (GRCm39)	V204A	probably benign	Het
Or4a27	A	T	2: 88,559,857 (GRCm39)	F29I	probably damaging	Het
Or8b44	A	T	9: 38,410,588 (GRCm39)	I208F	probably damaging	Het
Pcdh15	T	C	10: 74,479,227 (GRCm39)	V708A	probably benign	Het
Pclo	T	A	5: 14,727,080 (GRCm39)	D1979E	unknown	Het
Plxnd1	A	T	6: 115,949,433 (GRCm39)	H784Q	probably benign	Het
Prim1	A	T	10: 127,856,138 (GRCm39)		probably null	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Slc7a5	A	T	8: 122,612,691 (GRCm39)	I371N	probably damaging	Het
Sp140l2	G	A	1: 85,224,671 (GRCm39)	S288L	possibly damaging	Het
Spata31e3	T	C	13: 50,401,474 (GRCm39)	K284R	possibly damaging	Het
Taf1c	G	T	8: 120,329,789 (GRCm39)	D117E	probably damaging	Het
Top3b	T	C	16: 16,705,867 (GRCm39)	I508T	probably damaging	Het
Uba6	A	G	5: 86,279,196 (GRCm39)	I673T	probably benign	Het
Vmn2r17	G	T	5: 109,576,387 (GRCm39)	M419I	probably benign	Het
Zfr	C	T	15: 12,153,054 (GRCm39)	Q562*	probably null	Het
Zfyve16	A	T	13: 92,650,328 (GRCm39)	D885E	probably benign	Het

Other mutations in Tekt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02266:Tekt5	APN	16	10,196,906 (GRCm39)	missense	probably benign	0.04
IGL02396:Tekt5	APN	16	10,196,931 (GRCm39)	missense	probably benign	0.00
R0609:Tekt5	UTSW	16	10,179,168 (GRCm39)	missense	possibly damaging	0.62
R2004:Tekt5	UTSW	16	10,213,070 (GRCm39)	missense	probably benign
R2006:Tekt5	UTSW	16	10,213,070 (GRCm39)	missense	probably benign
R2188:Tekt5	UTSW	16	10,176,189 (GRCm39)	missense	probably damaging	1.00
R4510:Tekt5	UTSW	16	10,175,877 (GRCm39)	missense	probably benign	0.06
R4511:Tekt5	UTSW	16	10,175,877 (GRCm39)	missense	probably benign	0.06
R4745:Tekt5	UTSW	16	10,213,058 (GRCm39)	missense	probably damaging	1.00
R4814:Tekt5	UTSW	16	10,200,771 (GRCm39)	missense	probably damaging	1.00
R5331:Tekt5	UTSW	16	10,179,193 (GRCm39)	missense	probably benign
R5546:Tekt5	UTSW	16	10,179,254 (GRCm39)	missense	possibly damaging	0.69
R5910:Tekt5	UTSW	16	10,205,017 (GRCm39)	critical splice donor site	probably null
R6909:Tekt5	UTSW	16	10,176,165 (GRCm39)	missense	probably damaging	1.00
R7822:Tekt5	UTSW	16	10,200,792 (GRCm39)	missense	possibly damaging	0.90
R7823:Tekt5	UTSW	16	10,203,943 (GRCm39)	missense	probably damaging	0.96
R8046:Tekt5	UTSW	16	10,213,277 (GRCm39)	missense	probably benign	0.02
R8546:Tekt5	UTSW	16	10,175,877 (GRCm39)	missense	probably benign
R9355:Tekt5	UTSW	16	10,213,268 (GRCm39)	missense	possibly damaging	0.82
X0019:Tekt5	UTSW	16	10,203,948 (GRCm39)	missense	probably benign	0.31
Z1088:Tekt5	UTSW	16	10,176,241 (GRCm39)	missense	probably damaging	1.00
Z1176:Tekt5	UTSW	16	10,176,085 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- ACAGTTCACCTCCTCAGCAG -3'
(R):5'- CAGCGTCTTCCACAAGATCG -3'

Sequencing Primer
(F):5'- TCCTCAGCAGCGCACTC -3'
(R):5'- GTCTTCCACAAGATCGCCACC -3'

Posted On

2020-09-02