Mutagenetix > Incidental Mutation

Incidental Mutation 'R2188:Tekt5'

237948

Institutional Source

Beutler Lab

Gene Symbol

Tekt5

Ensembl Gene

ENSMUSG00000039179

Gene Name

tektin 5

Synonyms

3300001K11Rik

MMRRC Submission

040190-MU

Accession Numbers

Essential gene?

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

Stock #

R2188 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10175816-10213319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10176189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 452 (E452G)

Ref Sequence

ENSEMBL: ENSMUSP00000046824 (fasta)

Gene Model

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

AlphaFold

G5E8A8

Predicted Effect

probably damaging
Transcript: ENSMUST00000043415
AA Change: E452G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046824
Gene: ENSMUSG00000039179
AA Change: E452G

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

SMART Domains

Protein: ENSMUSP00000111497
Gene: ENSMUSG00000039179

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,838,367 (GRCm39)	L547P	probably damaging	Het
Arhgap29	A	C	3: 121,784,658 (GRCm39)	D195A	probably damaging	Het
Atad3a	A	T	4: 155,835,976 (GRCm39)	I274N	probably damaging	Het
Ccdc12	G	T	9: 110,485,699 (GRCm39)	K23N	possibly damaging	Het
Ccpg1	A	G	9: 72,920,388 (GRCm39)	T668A	probably benign	Het
Cdc34b	T	C	11: 94,632,998 (GRCm39)	I66T	probably benign	Het
Dnah1	A	G	14: 31,001,121 (GRCm39)	I2408T	probably damaging	Het
Fam91a1	A	C	15: 58,302,512 (GRCm39)	N284T	probably damaging	Het
Gbp2b	A	T	3: 142,314,040 (GRCm39)	E440V	probably benign	Het
Gm5134	T	C	10: 75,831,670 (GRCm39)	S370P	probably damaging	Het
Hmcn2	G	A	2: 31,309,947 (GRCm39)	A3238T	probably benign	Het
Hmg20a	A	G	9: 56,384,584 (GRCm39)	E118G	possibly damaging	Het
Itprid2	T	C	2: 79,475,267 (GRCm39)	S409P	probably benign	Het
Kdm5a	T	A	6: 120,383,601 (GRCm39)	F781I	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2d	A	G	15: 98,737,181 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 41,298,971 (GRCm39)	T857A	probably benign	Het
Mucl2	T	A	15: 103,927,840 (GRCm39)	N39I	probably damaging	Het
Myl6	A	G	10: 128,328,566 (GRCm39)	I27T	possibly damaging	Het
Ndor1	A	T	2: 25,141,765 (GRCm39)		probably null	Het
Nlrp9a	A	G	7: 26,264,354 (GRCm39)	E758G	probably damaging	Het
Or52h7	G	A	7: 104,213,883 (GRCm39)	A152T	probably benign	Het
Or8u8	A	T	2: 86,011,780 (GRCm39)	I225N	probably damaging	Het
Parp3	G	A	9: 106,353,051 (GRCm39)	R42W	probably damaging	Het
Pik3c2g	A	G	6: 139,798,600 (GRCm39)	I495V	probably damaging	Het
Qrfprl	C	A	6: 65,418,260 (GRCm39)	H143N	probably damaging	Het
Sdsl	C	T	5: 120,596,485 (GRCm39)	G310S	probably damaging	Het
Sec24a	A	G	11: 51,614,411 (GRCm39)	L531P	probably damaging	Het
Slc2a12	C	T	10: 22,540,736 (GRCm39)	S197F	probably benign	Het
Snapc1	T	A	12: 74,017,001 (GRCm39)	I213N	probably damaging	Het
Srpk1	A	T	17: 28,813,163 (GRCm39)	I527N	probably damaging	Het
Steap2	G	T	5: 5,723,643 (GRCm39)	Y412*	probably null	Het
Tbk1	A	C	10: 121,399,836 (GRCm39)	Y329*	probably null	Het
Tmc5	G	T	7: 118,254,178 (GRCm39)	C672F	probably damaging	Het
Trim27	T	C	13: 21,367,987 (GRCm39)	L201S	probably damaging	Het
Vil1	A	C	1: 74,466,724 (GRCm39)	D638A	probably benign	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Zfp583	C	T	7: 6,320,610 (GRCm39)	R134H	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
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
R8382:Tekt5	UTSW	16	10,212,928 (GRCm39)	missense	probably benign	0.35
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'- CGTTATGCCATTTAACACACCGG -3'
(R):5'- TCATACAGGGGTGTCTGTGC -3'

Sequencing Primer
(F):5'- GCCTTTACAAAGCGCTGAG -3'
(R):5'- CTAAAGGAGAGTCATGGAGGTTTCTC -3'

Posted On

2014-10-02