Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02565:Ift70b'

298775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ift70b

Ensembl Gene

ENSMUSG00000075273

Gene Name

intraflagellar transport 70B

Synonyms

2510042P03Rik, Ttc30b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02565

Quality Score

Status

Chromosome

Chromosomal Location

75766193-75768806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75768247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 169 (Y169H)

Ref Sequence

ENSEMBL: ENSMUSP00000097576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099996]

AlphaFold

Q9CY00

Predicted Effect

probably benign
Transcript: ENSMUST00000099996
AA Change: Y169H

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097576
Gene: ENSMUSG00000075273
AA Change: Y169H

Domain	Start	End	E-Value	Type
TPR	45	78	1.1e-1	SMART
TPR	153	186	3.89e1	SMART
TPR	187	220	6.24e1	SMART
TPR	423	456	7.49e1	SMART
Blast:TPR	457	491	3e-10	BLAST
low complexity region	514	528	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,302,677 (GRCm39)	S205R	probably benign	Het
Adora3	A	G	3: 105,815,128 (GRCm39)	T293A	probably benign	Het
App	T	C	16: 84,822,308 (GRCm39)		probably null	Het
Asap1	A	G	15: 64,001,014 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,777,770 (GRCm39)	V739E	probably damaging	Het
Bsn	A	G	9: 107,990,487 (GRCm39)	V1755A	probably damaging	Het
Clmp	A	C	9: 40,683,711 (GRCm39)	D147A	probably damaging	Het
Cntn5	A	T	9: 10,145,343 (GRCm39)	C122*	probably null	Het
Ctsb	T	G	14: 63,375,859 (GRCm39)	C198G	probably null	Het
Cyld	A	T	8: 89,467,919 (GRCm39)	R702S	probably damaging	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
Dpy19l4	C	A	4: 11,309,440 (GRCm39)	V59F	probably benign	Het
Eml1	A	T	12: 108,472,779 (GRCm39)	T196S	probably damaging	Het
Fam111a	T	A	19: 12,564,318 (GRCm39)	D22E	probably damaging	Het
Gigyf2	A	G	1: 87,369,858 (GRCm39)	H1150R	probably damaging	Het
Grk5	T	G	19: 61,057,809 (GRCm39)	F170V	probably damaging	Het
Heatr5a	A	C	12: 51,997,882 (GRCm39)	V339G	possibly damaging	Het
Hgd	T	A	16: 37,435,749 (GRCm39)	D153E	possibly damaging	Het
Igdcc3	T	A	9: 65,087,470 (GRCm39)	L336Q	probably damaging	Het
Jph2	T	C	2: 163,239,265 (GRCm39)	E61G	probably damaging	Het
Ktn1	A	T	14: 47,910,391 (GRCm39)		probably benign	Het
Lrch3	T	A	16: 32,826,084 (GRCm39)	D634E	probably benign	Het
Marchf6	T	C	15: 31,490,712 (GRCm39)		probably benign	Het
Misp	T	A	10: 79,662,177 (GRCm39)	I198N	probably benign	Het
Mmp14	C	T	14: 54,678,014 (GRCm39)	P545L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Muc5b	T	C	7: 141,411,604 (GRCm39)	S1517P	unknown	Het
Nae1	A	T	8: 105,237,841 (GRCm39)	N518K	probably damaging	Het
Pglyrp4	A	T	3: 90,642,794 (GRCm39)	D225V	probably benign	Het
Pgpep1	A	G	8: 71,105,119 (GRCm39)	I47T	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pitpnc1	G	A	11: 107,187,059 (GRCm39)	T88I	probably damaging	Het
Poldip2	T	C	11: 78,408,678 (GRCm39)	I181T	probably damaging	Het
Ppfia2	T	C	10: 106,699,247 (GRCm39)		probably null	Het
Rasal1	A	G	5: 120,814,845 (GRCm39)		probably benign	Het
Rbms1	A	G	2: 60,590,123 (GRCm39)	Y305H	probably benign	Het
Rnf123	A	C	9: 107,929,411 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,026,237 (GRCm39)		probably benign	Het
Slc2a10	A	C	2: 165,357,000 (GRCm39)	D220A	probably damaging	Het
Slc38a8	T	C	8: 120,212,300 (GRCm39)	T348A	probably damaging	Het
Slc4a5	T	C	6: 83,276,487 (GRCm39)	V1104A	probably benign	Het
Snrpe	T	C	1: 133,536,704 (GRCm39)		probably benign	Het
Th	C	A	7: 142,453,647 (GRCm39)	V18F	probably damaging	Het
Ubqln5	G	A	7: 103,778,279 (GRCm39)	Q182*	probably null	Het
Unc5c	T	C	3: 141,509,680 (GRCm39)	V646A	probably damaging	Het
Wasf1	A	G	10: 40,812,128 (GRCm39)	N306D	possibly damaging	Het

Other mutations in Ift70b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Ift70b	APN	2	75,767,226 (GRCm39)	missense	probably damaging	1.00
IGL02891:Ift70b	APN	2	75,767,404 (GRCm39)	missense	possibly damaging	0.88
R0383:Ift70b	UTSW	2	75,768,586 (GRCm39)	missense	probably damaging	1.00
R0542:Ift70b	UTSW	2	75,767,055 (GRCm39)	missense	probably damaging	0.98
R1470:Ift70b	UTSW	2	75,768,155 (GRCm39)	missense	probably benign
R1470:Ift70b	UTSW	2	75,768,155 (GRCm39)	missense	probably benign
R1656:Ift70b	UTSW	2	75,767,760 (GRCm39)	missense	probably benign	0.26
R1951:Ift70b	UTSW	2	75,767,586 (GRCm39)	missense	probably damaging	1.00
R1959:Ift70b	UTSW	2	75,767,443 (GRCm39)	missense	probably benign	0.06
R1994:Ift70b	UTSW	2	75,768,402 (GRCm39)	missense	probably damaging	1.00
R2132:Ift70b	UTSW	2	75,767,129 (GRCm39)	missense	probably damaging	1.00
R4968:Ift70b	UTSW	2	75,768,391 (GRCm39)	missense	probably benign	0.00
R6110:Ift70b	UTSW	2	75,768,144 (GRCm39)	missense	probably damaging	1.00
R6502:Ift70b	UTSW	2	75,767,448 (GRCm39)	missense	possibly damaging	0.87
R7154:Ift70b	UTSW	2	75,768,405 (GRCm39)	missense	possibly damaging	0.88
R7182:Ift70b	UTSW	2	75,768,293 (GRCm39)	nonsense	probably null
R7269:Ift70b	UTSW	2	75,767,838 (GRCm39)	missense	probably damaging	1.00
R7866:Ift70b	UTSW	2	75,766,963 (GRCm39)	missense	possibly damaging	0.94
R8089:Ift70b	UTSW	2	75,767,647 (GRCm39)	missense	possibly damaging	0.57
R9035:Ift70b	UTSW	2	75,767,596 (GRCm39)	missense	probably benign	0.06
R9420:Ift70b	UTSW	2	75,768,391 (GRCm39)	missense	possibly damaging	0.64
R9621:Ift70b	UTSW	2	75,768,144 (GRCm39)	missense	probably damaging	1.00
R9745:Ift70b	UTSW	2	75,768,261 (GRCm39)	missense	probably benign	0.25
R9765:Ift70b	UTSW	2	75,768,467 (GRCm39)	nonsense	probably null
Z1088:Ift70b	UTSW	2	75,768,326 (GRCm39)	missense	probably benign

Posted On

2015-04-16