Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02266:Tekt5'

286888

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tekt5

Ensembl Gene

ENSMUSG00000039179

Gene Name

tektin 5

Synonyms

3300001K11Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02266

Quality Score

Status

Chromosome

Chromosomal Location

10175816-10213319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10196906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 315 (I315N)

Ref Sequence

ENSEMBL: ENSMUSP00000111497 (fasta)

Gene Model

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

AlphaFold

G5E8A8

Predicted Effect

probably benign
Transcript: ENSMUST00000043415
AA Change: I315N

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000046824
Gene: ENSMUSG00000039179
AA Change: I315N

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: I315N

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111497
Gene: ENSMUSG00000039179
AA Change: I315N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,307,360 (GRCm39)	Q1974*	probably null	Het
Actl11	G	T	9: 107,808,382 (GRCm39)	V902L	possibly damaging	Het
Adam11	T	C	11: 102,663,493 (GRCm39)	V274A	probably damaging	Het
Akr1b8	A	G	6: 34,331,208 (GRCm39)	I15V	probably benign	Het
Chrm3	T	A	13: 9,927,314 (GRCm39)	Q574L	probably damaging	Het
Ciao3	T	A	17: 25,999,300 (GRCm39)	I238N	possibly damaging	Het
Crk	C	A	11: 75,570,415 (GRCm39)	R16S	probably damaging	Het
Ep400	T	C	5: 110,843,163 (GRCm39)		probably benign	Het
Eya1	T	C	1: 14,254,725 (GRCm39)	N369S	possibly damaging	Het
Fam220a	T	C	5: 143,549,326 (GRCm39)	V246A	possibly damaging	Het
Fastkd5	A	T	2: 130,457,481 (GRCm39)	F370I	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gpr75	A	C	11: 30,841,977 (GRCm39)	Q294P	probably benign	Het
Hspg2	T	C	4: 137,237,888 (GRCm39)	F204L	probably damaging	Het
Lrrc8c	A	C	5: 105,756,114 (GRCm39)	I630L	probably benign	Het
Nlrc4	T	C	17: 74,753,162 (GRCm39)	D407G	possibly damaging	Het
Or4f61	G	A	2: 111,922,588 (GRCm39)	L153F	probably benign	Het
Or8k22	T	A	2: 86,163,323 (GRCm39)	I126F	probably damaging	Het
Pank1	A	C	19: 34,791,086 (GRCm39)		probably benign	Het
Pde3b	A	G	7: 114,126,201 (GRCm39)	T812A	probably damaging	Het
Phtf2	T	G	5: 21,010,797 (GRCm39)	K63Q	probably damaging	Het
Pkhd1l1	A	T	15: 44,437,010 (GRCm39)	H3456L	probably damaging	Het
Plcd1	A	G	9: 118,903,855 (GRCm39)		probably benign	Het
Ppip5k2	C	T	1: 97,661,697 (GRCm39)	V734I	possibly damaging	Het
Ppp2r2d	A	G	7: 138,470,166 (GRCm39)	N38S	probably damaging	Het
Rnpepl1	T	A	1: 92,844,611 (GRCm39)	W368R	probably damaging	Het
Sidt1	T	C	16: 44,075,348 (GRCm39)	D670G	possibly damaging	Het
Slc12a2	T	A	18: 58,045,092 (GRCm39)		probably benign	Het
Trappc11	A	C	8: 47,958,766 (GRCm39)	C42G	probably damaging	Het
Trerf1	C	T	17: 47,626,331 (GRCm39)		noncoding transcript	Het
Ubqlnl	C	A	7: 103,798,754 (GRCm39)	E248*	probably null	Het
Ulk4	G	T	9: 120,910,766 (GRCm39)	T1086K	probably benign	Het
Unc45a	A	T	7: 79,978,234 (GRCm39)	D680E	probably damaging	Het
Vmn2r107	T	C	17: 20,577,039 (GRCm39)	Y346H	probably damaging	Het
Vmn2r73	A	G	7: 85,525,007 (GRCm39)	I47T	possibly damaging	Het
Zbtb9	T	C	17: 27,193,129 (GRCm39)	V178A	probably benign	Het
Zc3hav1	A	T	6: 38,309,103 (GRCm39)	M573K	probably benign	Het
Zfp608	T	C	18: 55,030,653 (GRCm39)	T1096A	probably benign	Het

Other mutations in Tekt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16