Mutagenetix > Incidental Mutation

Incidental Mutation 'R2017:Ift70a1'

223147

Institutional Source

Beutler Lab

Gene Symbol

Ift70a1

Ensembl Gene

ENSMUSG00000075271

Gene Name

intraflagellar transport 70A1

Synonyms

Ttc30a1, 4930506L13Rik

MMRRC Submission

040026-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R2017 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75809450-75812311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75811801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 94 (L94P)

Ref Sequence

ENSEMBL: ENSMUSP00000097574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099994] [ENSMUST00000099995]

AlphaFold

Q99J38

Predicted Effect

probably benign
Transcript: ENSMUST00000099994
AA Change: L94P

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
AA Change: L94P

Domain	Start	End	E-Value	Type
TPR	45	78	1.1e-1	SMART
TPR	153	186	2.19e1	SMART
TPR	187	220	6.24e1	SMART
coiled coil region	380	411	N/A	INTRINSIC
TPR	423	456	2.24e1	SMART
Blast:TPR	457	491	1e-10	BLAST
low complexity region	514	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099995

SMART Domains

Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272

Domain	Start	End	E-Value	Type
TPR	45	78	1.1e-1	SMART
TPR	153	186	2.77e1	SMART
Blast:TPR	187	224	1e-13	BLAST
coiled coil region	380	405	N/A	INTRINSIC
TPR	423	456	2.24e1	SMART
Blast:TPR	457	491	1e-10	BLAST
low complexity region	514	528	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 164,920,946 (GRCm39)	D29G	unknown	Het
Abca13	A	T	11: 9,240,619 (GRCm39)	L827F	probably damaging	Het
Abcc1	T	A	16: 14,279,068 (GRCm39)	V1126E	probably damaging	Het
Abcc12	A	G	8: 87,290,617 (GRCm39)	L41S	probably damaging	Het
Adgrg7	T	C	16: 56,553,169 (GRCm39)	T643A	probably benign	Het
Angpt2	T	C	8: 18,755,747 (GRCm39)	N240S	probably damaging	Het
Apc	A	G	18: 34,446,655 (GRCm39)	T1150A	probably benign	Het
Apob	G	A	12: 8,057,751 (GRCm39)	D2078N	possibly damaging	Het
Apool	T	A	X: 111,274,258 (GRCm39)	S234T	probably benign	Het
Ascc3	C	T	10: 50,566,307 (GRCm39)	P751S	probably benign	Het
Astn2	G	A	4: 65,459,178 (GRCm39)	T1079I	probably damaging	Het
Atp8b1	T	C	18: 64,673,405 (GRCm39)	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,786,621 (GRCm39)	D189G	probably damaging	Het
Bcas1	A	C	2: 170,190,081 (GRCm39)		probably null	Het
Btk	T	C	X: 133,448,350 (GRCm39)	D355G	probably benign	Het
C2cd4c	A	G	10: 79,448,823 (GRCm39)	V108A	possibly damaging	Het
Cbfa2t2	T	C	2: 154,359,727 (GRCm39)	L264P	probably damaging	Het
Cd22	A	T	7: 30,572,205 (GRCm39)	L423Q	probably damaging	Het
Cep128	T	C	12: 91,333,238 (GRCm39)	D9G	probably damaging	Het
Cer1	A	T	4: 82,801,120 (GRCm39)	V181D	probably damaging	Het
Ciita	T	C	16: 10,329,540 (GRCm39)	L584P	probably damaging	Het
Cmss1	T	C	16: 57,136,641 (GRCm39)	D77G	probably damaging	Het
Col4a2	T	C	8: 11,495,086 (GRCm39)	F1515L	probably benign	Het
Cyria	T	A	12: 12,412,362 (GRCm39)	V208D	probably damaging	Het
Dcaf1	A	G	9: 106,725,122 (GRCm39)	E536G	probably damaging	Het
Dcaf1	T	A	9: 106,716,287 (GRCm39)	D360E	probably benign	Het
Dnah2	T	A	11: 69,327,896 (GRCm39)	I3370F	probably damaging	Het
Dsg1c	T	C	18: 20,399,253 (GRCm39)	V119A	possibly damaging	Het
Edn3	A	G	2: 174,620,455 (GRCm39)	E103G	probably benign	Het
Efemp1	G	T	11: 28,871,613 (GRCm39)	R376L	probably damaging	Het
Eid1	A	G	2: 125,515,121 (GRCm39)	M4V	probably benign	Het
Emilin3	G	A	2: 160,751,530 (GRCm39)	R170C	possibly damaging	Het
Epx	T	C	11: 87,765,163 (GRCm39)	D178G	probably damaging	Het
Fkbp10	G	A	11: 100,312,499 (GRCm39)	V252I	possibly damaging	Het
Flnc	G	A	6: 29,443,796 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,813,076 (GRCm39)	K3132E	possibly damaging	Het
Gla	C	T	X: 133,497,071 (GRCm39)	A39T	probably damaging	Het
Hivep2	C	T	10: 14,006,501 (GRCm39)	T1033M	probably damaging	Het
Hsd17b8	A	T	17: 34,245,187 (GRCm39)	M259K	probably damaging	Het
Ikzf4	C	T	10: 128,470,026 (GRCm39)	G498D	probably damaging	Het
Impg1	T	C	9: 80,322,720 (GRCm39)	Y95C	probably damaging	Het
Ino80c	T	A	18: 24,244,810 (GRCm39)	K136*	probably null	Het
Iqsec1	A	C	6: 90,666,912 (GRCm39)	H508Q	probably benign	Het
Itgb3	A	G	11: 104,528,788 (GRCm39)	H305R	possibly damaging	Het
Jup	T	A	11: 100,277,167 (GRCm39)	T14S	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klf12	T	C	14: 100,260,073 (GRCm39)	R219G	possibly damaging	Het
Klhl42	G	T	6: 147,009,291 (GRCm39)	V377L	probably benign	Het
Large1	A	G	8: 73,578,825 (GRCm39)	F460S	probably damaging	Het
Loxl3	A	T	6: 83,025,958 (GRCm39)	D402V	probably damaging	Het
Lrrc37a	T	A	11: 103,391,951 (GRCm39)	Y1158F	probably benign	Het
Map2	T	A	1: 66,451,958 (GRCm39)	S365T	probably damaging	Het
Mapk8ip1	A	G	2: 92,221,379 (GRCm39)		probably null	Het
Med26	A	G	8: 73,250,791 (GRCm39)	S103P	probably damaging	Het
Muc4	T	C	16: 32,570,121 (GRCm39)	S394P	possibly damaging	Het
Nle1	G	T	11: 82,796,373 (GRCm39)	P166Q	probably damaging	Het
Obox5	T	C	7: 15,492,807 (GRCm39)	I254T	probably benign	Het
Or1p1c	T	A	11: 74,161,159 (GRCm39)	W315R	probably benign	Het
Or4g7	G	T	2: 111,309,532 (GRCm39)	M134I	probably benign	Het
Or52j3	T	C	7: 102,836,137 (GRCm39)	F110L	probably benign	Het
Or7c19	T	C	8: 85,957,373 (GRCm39)	L83P	possibly damaging	Het
Pacs2	A	T	12: 113,026,077 (GRCm39)	N545Y	probably damaging	Het
Palld	T	C	8: 62,137,799 (GRCm39)	E652G	probably damaging	Het
Pgm5	T	C	19: 24,801,676 (GRCm39)	N184S	probably benign	Het
Pitpnm1	T	C	19: 4,161,873 (GRCm39)	V955A	probably benign	Het
Plcb1	T	A	2: 135,204,340 (GRCm39)	I898N	possibly damaging	Het
Pramel13	A	G	4: 144,121,244 (GRCm39)	V260A	possibly damaging	Het
Prr36	T	A	8: 4,265,205 (GRCm39)	T182S	probably benign	Het
Prss35	A	G	9: 86,637,565 (GRCm39)	S112G	probably benign	Het
Ptprj	C	T	2: 90,294,958 (GRCm39)	V417M	probably damaging	Het
Ptprm	G	T	17: 67,264,148 (GRCm39)		probably null	Het
Rasgrp2	T	C	19: 6,463,195 (GRCm39)	V498A	probably benign	Het
Rfx6	A	G	10: 51,597,700 (GRCm39)	N513S	possibly damaging	Het
Rhbdf1	A	G	11: 32,160,471 (GRCm39)	I693T	probably damaging	Het
Scn9a	T	C	2: 66,345,665 (GRCm39)	T1143A	probably damaging	Het
Spata17	A	G	1: 186,780,650 (GRCm39)	S366P	possibly damaging	Het
Svep1	A	G	4: 58,070,568 (GRCm39)	L2406P	probably benign	Het
Tasor2	A	T	13: 3,626,770 (GRCm39)	I1060K	probably benign	Het
Tgfb2	A	T	1: 186,362,962 (GRCm39)	Y287*	probably null	Het
Trip11	A	T	12: 101,851,619 (GRCm39)	V815E	probably benign	Het
Trp53bp2	G	T	1: 182,276,580 (GRCm39)	V854L	probably benign	Het
Vmn1r78	T	C	7: 11,887,270 (GRCm39)	S294P	possibly damaging	Het
Vmn2r86	T	C	10: 130,282,582 (GRCm39)	K678R	probably benign	Het
Yeats2	T	A	16: 19,977,931 (GRCm39)	N138K	probably benign	Het
Zup1	A	T	10: 33,803,460 (GRCm39)	N541K	possibly damaging	Het

Other mutations in Ift70a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Ift70a1	APN	2	75,812,085 (GRCm39)	unclassified	probably benign
IGL01140:Ift70a1	APN	2	75,810,259 (GRCm39)	missense	probably benign	0.01
IGL01527:Ift70a1	APN	2	75,810,860 (GRCm39)	missense	probably benign
IGL01690:Ift70a1	APN	2	75,810,277 (GRCm39)	missense	probably benign
IGL01916:Ift70a1	APN	2	75,811,223 (GRCm39)	missense	probably damaging	0.98
IGL02342:Ift70a1	APN	2	75,810,976 (GRCm39)	missense	probably benign	0.45
IGL02728:Ift70a1	APN	2	75,811,193 (GRCm39)	missense	probably benign	0.01
IGL03171:Ift70a1	APN	2	75,810,851 (GRCm39)	missense	probably benign	0.00
PIT4677001:Ift70a1	UTSW	2	75,810,113 (GRCm39)	missense	possibly damaging	0.60
R0781:Ift70a1	UTSW	2	75,810,320 (GRCm39)	missense	probably damaging	0.98
R1110:Ift70a1	UTSW	2	75,810,320 (GRCm39)	missense	probably damaging	0.98
R1185:Ift70a1	UTSW	2	75,810,696 (GRCm39)	missense	probably damaging	1.00
R1185:Ift70a1	UTSW	2	75,810,696 (GRCm39)	missense	probably damaging	1.00
R1750:Ift70a1	UTSW	2	75,810,599 (GRCm39)	missense	probably benign	0.21
R2016:Ift70a1	UTSW	2	75,811,801 (GRCm39)	missense	probably benign	0.42
R2020:Ift70a1	UTSW	2	75,811,279 (GRCm39)	missense	probably benign
R3606:Ift70a1	UTSW	2	75,811,621 (GRCm39)	missense	probably benign	0.06
R4272:Ift70a1	UTSW	2	75,810,818 (GRCm39)	missense	probably damaging	1.00
R4600:Ift70a1	UTSW	2	75,810,977 (GRCm39)	missense	probably benign	0.26
R4894:Ift70a1	UTSW	2	75,810,088 (GRCm39)	makesense	probably null
R4996:Ift70a1	UTSW	2	75,810,266 (GRCm39)	missense	probably benign
R5217:Ift70a1	UTSW	2	75,811,147 (GRCm39)	missense	probably damaging	1.00
R5721:Ift70a1	UTSW	2	75,811,715 (GRCm39)	missense	probably damaging	0.99
R6002:Ift70a1	UTSW	2	75,811,121 (GRCm39)	missense	possibly damaging	0.59
R6006:Ift70a1	UTSW	2	75,811,832 (GRCm39)	missense	probably benign	0.08
R7316:Ift70a1	UTSW	2	75,811,201 (GRCm39)	missense	probably damaging	1.00
R7391:Ift70a1	UTSW	2	75,810,359 (GRCm39)	missense	probably benign	0.05
R7494:Ift70a1	UTSW	2	75,810,242 (GRCm39)	missense	probably damaging	1.00
R7960:Ift70a1	UTSW	2	75,811,188 (GRCm39)	missense	probably benign	0.00
R7972:Ift70a1	UTSW	2	75,810,802 (GRCm39)	missense	probably damaging	1.00
R7974:Ift70a1	UTSW	2	75,810,688 (GRCm39)	missense	probably damaging	1.00
R8443:Ift70a1	UTSW	2	75,811,519 (GRCm39)	missense	probably benign	0.00
R8792:Ift70a1	UTSW	2	75,811,898 (GRCm39)	nonsense	probably null
R8992:Ift70a1	UTSW	2	75,810,251 (GRCm39)	missense	probably benign	0.07
R9145:Ift70a1	UTSW	2	75,810,423 (GRCm39)	nonsense	probably null
R9268:Ift70a1	UTSW	2	75,811,279 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTTGACCAAACCATCTGGG -3'
(R):5'- TTCACAGCGGTGGTGTACAG -3'

Sequencing Primer
(F):5'- GGGTCATTCTCCCCTCCACTG -3'
(R):5'- TGGTGTACAGGCTCATCCG -3'

Posted On

2014-08-25