Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02826:Tektip1'

361232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tektip1

Ensembl Gene

ENSMUSG00000020234

Gene Name

tektin bundle interacting protein 1

Synonyms

4930404N11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

81199858-81201654 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 81200570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020456] [ENSMUST00000020457] [ENSMUST00000044844] [ENSMUST00000118812] [ENSMUST00000140901] [ENSMUST00000132368]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020456

SMART Domains

Protein: ENSMUSP00000020456
Gene: ENSMUSG00000020234

Domain	Start	End	E-Value	Type
Pfam:DUF4531	23	204	1.3e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020457

SMART Domains

Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235

Domain	Start	End	E-Value	Type
Blast:WD40	172	213	8e-21	BLAST
WD40	218	257	1.2e-2	SMART
WD40	260	297	6.79e-2	SMART
WD40	302	341	3.55e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000044844

SMART Domains

Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:MFS_2	20	423	5.2e-43	PFAM
Pfam:MFS_1	154	416	6.8e-12	PFAM
transmembrane domain	441	463	N/A	INTRINSIC
low complexity region	464	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118812

SMART Domains

Protein: ENSMUSP00000112868
Gene: ENSMUSG00000020235

Domain	Start	End	E-Value	Type
WD40	129	168	5.6e-3	SMART
WD40	171	208	6.79e-2	SMART
WD40	213	252	3.99e-8	SMART
WD40	255	297	2.84e-4	SMART
WD40	300	340	1.98e1	SMART
WD40	343	382	1.11e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130762

Predicted Effect

probably benign
Transcript: ENSMUST00000131736

SMART Domains

Protein: ENSMUSP00000123068
Gene: ENSMUSG00000020234

Domain	Start	End	E-Value	Type
Pfam:DUF4531	1	128	2.6e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150824

Predicted Effect

probably benign
Transcript: ENSMUST00000140901

SMART Domains

Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235

Domain	Start	End	E-Value	Type
Blast:WD40	172	213	1e-19	BLAST
WD40	218	257	1.2e-2	SMART
WD40	260	297	6.79e-2	SMART
WD40	302	341	3.99e-8	SMART
WD40	344	386	2.84e-4	SMART
WD40	389	429	1.98e1	SMART
WD40	432	471	1.11e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132368

SMART Domains

Protein: ENSMUSP00000120259
Gene: ENSMUSG00000034854

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:MFS_2	20	102	3.7e-11	PFAM
low complexity region	118	124	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,655,302 (GRCm39)		probably benign	Het
Alk	C	T	17: 72,176,531 (GRCm39)	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,118,327 (GRCm39)	S34P	probably benign	Het
Atp2a2	A	G	5: 122,627,354 (GRCm39)	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770 (GRCm39)	M845V	probably damaging	Het
Camk1d	A	G	2: 5,570,571 (GRCm39)	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,616,535 (GRCm39)	T193I	probably benign	Het
Cfap298	A	C	16: 90,722,950 (GRCm39)	D261E	probably benign	Het
Chst15	T	A	7: 131,868,475 (GRCm39)	D315V	probably damaging	Het
Cux1	G	T	5: 136,336,857 (GRCm39)	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,076,307 (GRCm39)	E88K	possibly damaging	Het
Dido1	A	G	2: 180,325,751 (GRCm39)	V479A	probably benign	Het
Dlc1	G	T	8: 37,037,429 (GRCm39)		probably benign	Het
H2-Ab1	G	A	17: 34,483,885 (GRCm39)	R82Q	probably damaging	Het
Hps6	T	A	19: 45,994,480 (GRCm39)	*806K	probably null	Het
Ilf3	T	C	9: 21,309,340 (GRCm39)	S486P	probably benign	Het
Kdm1b	C	A	13: 47,233,943 (GRCm39)	T759K	probably damaging	Het
Kirrel1	C	A	3: 86,995,792 (GRCm39)	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,276,569 (GRCm39)	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,878,805 (GRCm39)	Y100H	probably damaging	Het
Mastl	T	C	2: 23,035,421 (GRCm39)	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,991,630 (GRCm39)	E1576G	probably damaging	Het
Nek3	A	T	8: 22,650,384 (GRCm39)		probably null	Het
Nipal3	G	T	4: 135,195,861 (GRCm39)	Y247*	probably null	Het
Nt5e	A	C	9: 88,237,758 (GRCm39)	K229N	probably damaging	Het
Opa1	A	G	16: 29,429,705 (GRCm39)	M290V	probably null	Het
Or2a14	A	G	6: 43,130,511 (GRCm39)	I91V	possibly damaging	Het
Or8d6	G	T	9: 39,854,254 (GRCm39)	G233C	probably damaging	Het
Parp2	T	A	14: 51,052,872 (GRCm39)	I155K	probably benign	Het
Pde4dip	G	T	3: 97,674,403 (GRCm39)	A171E	probably damaging	Het
Prom2	C	T	2: 127,373,036 (GRCm39)	E678K	probably benign	Het
Rab12	A	G	17: 66,805,111 (GRCm39)		probably benign	Het
Rgs8	A	T	1: 153,546,545 (GRCm39)	T13S	probably damaging	Het
Setd3	A	G	12: 108,078,383 (GRCm39)		probably benign	Het
Shisal1	A	G	15: 84,304,330 (GRCm39)		probably benign	Het
Slx4ip	G	A	2: 136,846,893 (GRCm39)	V53I	probably damaging	Het
Stil	A	G	4: 114,881,295 (GRCm39)	D613G	probably benign	Het
Tjp3	T	A	10: 81,109,523 (GRCm39)	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632 (GRCm39)	*236W	probably null	Het
Ttbk1	A	G	17: 46,781,586 (GRCm39)	V389A	probably benign	Het
Wdfy4	A	G	14: 32,693,707 (GRCm39)	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,866,877 (GRCm39)	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,236,809 (GRCm39)	S428G	probably benign	Het
Zfp286	T	C	11: 62,678,786 (GRCm39)	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,709,680 (GRCm39)	K468E	probably damaging	Het

Other mutations in Tektip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02468:Tektip1	APN	10	81,201,563 (GRCm39)	missense	possibly damaging	0.53
R5851:Tektip1	UTSW	10	81,200,711 (GRCm39)	splice site	probably null
R7366:Tektip1	UTSW	10	81,200,025 (GRCm39)	missense	possibly damaging	0.63
R8973:Tektip1	UTSW	10	81,199,849 (GRCm39)	missense	unknown
R9457:Tektip1	UTSW	10	81,201,611 (GRCm39)	missense	probably benign

Posted On

2015-12-18