Mutagenetix > Incidental Mutation

Incidental Mutation 'R9765:Ift70b'

733184

Institutional Source

Beutler Lab

Gene Symbol

Ift70b

Ensembl Gene

ENSMUSG00000075273

Gene Name

intraflagellar transport 70B

Synonyms

2510042P03Rik, Ttc30b

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9765 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75766193-75768806 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 75768467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 95 (Y95*)

Ref Sequence

ENSEMBL: ENSMUSP00000097576 (fasta)

Gene Model

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

AlphaFold

Q9CY00

Predicted Effect

probably null
Transcript: ENSMUST00000099996
AA Change: Y95*

SMART Domains

Protein: ENSMUSP00000097576
Gene: ENSMUSG00000075273
AA Change: Y95*

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

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,404,829 (GRCm39)	V25I	probably benign	Het
Actr1b	T	A	1: 36,741,677 (GRCm39)	H65L	probably benign	Het
Adgrf5	G	A	17: 43,748,491 (GRCm39)	G440E	probably damaging	Het
Ash1l	T	A	3: 88,930,500 (GRCm39)	D1992E	probably damaging	Het
Cacng4	A	G	11: 107,632,809 (GRCm39)	F81S	probably damaging	Het
Cdca8	A	G	4: 124,814,122 (GRCm39)	I223T	probably benign	Het
Cdh19	A	G	1: 110,823,111 (GRCm39)		probably null	Het
Ces2f	A	G	8: 105,676,678 (GRCm39)	D124G	probably damaging	Het
Cks1brt	A	G	8: 85,898,234 (GRCm39)	Y29C	probably damaging	Het
Cntnap4	T	C	8: 113,484,110 (GRCm39)	S388P	probably benign	Het
Cntnap4	T	C	8: 113,568,496 (GRCm39)	I844T	probably damaging	Het
Col4a3	G	A	1: 82,646,678 (GRCm39)	W396*	probably null	Het
Cul9	A	T	17: 46,850,224 (GRCm39)	S449T	probably benign	Het
Cux2	G	A	5: 122,007,195 (GRCm39)	P822L	probably benign	Het
Cyp3a13	G	C	5: 137,909,883 (GRCm39)	P147A	probably damaging	Het
Dennd2a	C	T	6: 39,473,907 (GRCm39)		probably null	Het
Dgkg	T	C	16: 22,298,157 (GRCm39)	M743V	possibly damaging	Het
Dhx35	C	T	2: 158,671,501 (GRCm39)	R311W	probably benign	Het
Dnase1l2	A	T	17: 24,660,049 (GRCm39)	V273E	probably damaging	Het
Dock8	T	G	19: 25,146,832 (GRCm39)	I1437S	possibly damaging	Het
Dpy19l3	T	C	7: 35,408,056 (GRCm39)	D450G	probably benign	Het
Dsg4	G	A	18: 20,604,334 (GRCm39)	V934I	probably benign	Het
Eef2	T	A	10: 81,015,010 (GRCm39)	F236L	possibly damaging	Het
Eml4	A	G	17: 83,747,498 (GRCm39)	I247V	probably damaging	Het
Evi5	A	C	5: 107,947,120 (GRCm39)	C451G	probably benign	Het
Fam124a	T	G	14: 62,824,883 (GRCm39)	W126G	probably damaging	Het
Fbxw21	A	G	9: 108,975,625 (GRCm39)	I257T	possibly damaging	Het
Fn3krp	A	G	11: 121,312,304 (GRCm39)	K6E	probably benign	Het
Gcn1	G	A	5: 115,735,131 (GRCm39)	W1149*	probably null	Het
Glud1	C	T	14: 34,060,795 (GRCm39)	R453*	probably null	Het
Gtf2f1	G	A	17: 57,318,125 (GRCm39)		probably benign	Het
Gtpbp4	T	A	13: 9,024,994 (GRCm39)	D532V	probably benign	Het
Ifnar2	G	A	16: 91,184,975 (GRCm39)	R122H	possibly damaging	Het
Ipo11	A	G	13: 107,061,556 (GRCm39)	W35R	probably damaging	Het
Iqgap3	G	A	3: 88,017,361 (GRCm39)	R1115Q	possibly damaging	Het
Kifc5b	A	G	17: 27,142,239 (GRCm39)	E239G	probably damaging	Het
Map3k7	A	T	4: 32,019,519 (GRCm39)	E553D	probably damaging	Het
Mdh1	G	T	11: 21,512,926 (GRCm39)	S146*	probably null	Het
Muc16	C	A	9: 18,548,494 (GRCm39)	W5933L	probably benign	Het
Myo16	C	A	8: 10,620,401 (GRCm39)	P1651T	probably damaging	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Noxo1	G	T	17: 24,915,386 (GRCm39)		probably benign	Het
Or4k49	T	A	2: 111,495,230 (GRCm39)	Y220N	probably benign	Het
Pcdhgb6	A	T	18: 37,876,054 (GRCm39)	N254I	possibly damaging	Het
Peli3	A	T	19: 4,991,850 (GRCm39)	C30*	probably null	Het
Plb1	T	A	5: 32,512,731 (GRCm39)	M1363K	probably damaging	Het
Ppp4r4	G	T	12: 103,550,346 (GRCm39)	E257*	probably null	Het
Rbm20	T	G	19: 53,840,060 (GRCm39)	S1016R	probably benign	Het
Rcn1	A	T	2: 105,225,026 (GRCm39)	L143Q	possibly damaging	Het
Retreg1	G	A	15: 25,940,985 (GRCm39)	G3D	unknown	Het
Rrm2	A	G	12: 24,758,956 (GRCm39)	N65D	probably benign	Het
Samhd1	G	T	2: 156,965,219 (GRCm39)	H199N	probably damaging	Het
Slain2	T	A	5: 73,114,969 (GRCm39)	L400*	probably null	Het
Slc26a7	A	T	4: 14,522,862 (GRCm39)	M486K	probably benign	Het
Slc30a4	A	T	2: 122,536,456 (GRCm39)	Y133N	probably damaging	Het
Spef2	A	T	15: 9,601,945 (GRCm39)	F1439Y	unknown	Het
Srpra	T	C	9: 35,122,670 (GRCm39)	V29A	possibly damaging	Het
St3gal1	T	C	15: 66,981,499 (GRCm39)	T226A	possibly damaging	Het
Tas2r136	T	A	6: 132,754,813 (GRCm39)	I105F	probably benign	Het
Tmem208	A	G	8: 106,061,506 (GRCm39)	*177W	probably null	Het
Utrn	T	A	10: 12,610,921 (GRCm39)	N478I	probably damaging	Het
Zbtb37	T	C	1: 160,859,432 (GRCm39)	Y291C	probably damaging	Het
Zc3h3	T	G	15: 75,709,459 (GRCm39)	H470P	probably benign	Het
Zfp40	A	T	17: 23,395,863 (GRCm39)	Y241*	probably null	Het
Zfp457	T	C	13: 67,440,874 (GRCm39)	N567S	probably benign	Het
Zfp458	C	T	13: 67,408,217 (GRCm39)	V33M	probably damaging	Het
Zfp953	A	T	13: 67,491,478 (GRCm39)	I158N	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
IGL02565:Ift70b	APN	2	75,768,247 (GRCm39)	missense	probably benign	0.03
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
Z1088:Ift70b	UTSW	2	75,768,326 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTGTAGAGCAGACAACCTAGG -3'
(R):5'- TCACAGCAGTGGTGTACAGG -3'

Sequencing Primer
(F):5'- AACCTAGGTTGATCTGACCATC -3'
(R):5'- AGCAGTGGTGTACAGGCTCATC -3'

Posted On

2022-11-14