Mutagenetix > Incidental Mutation

Incidental Mutation 'R6006:Ift70a1'

479463

Institutional Source

Beutler Lab

Gene Symbol

Ift70a1

Ensembl Gene

ENSMUSG00000075271

Gene Name

intraflagellar transport 70A1

Synonyms

Ttc30a1, 4930506L13Rik

MMRRC Submission

044183-MU

Accession Numbers

Essential gene?

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

Stock #

R6006 (G1)

Quality Score

197.009

Status

Not validated

Chromosome

Chromosomal Location

75809450-75812311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75811832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 84 (Y84H)

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: Y84H

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271
AA Change: Y84H

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: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,694,804 (GRCm39)	I296T	probably benign	Het
Abcb4	C	A	5: 8,996,026 (GRCm39)	T894K	probably damaging	Het
Acad12	C	T	5: 121,737,299 (GRCm39)	V491I	possibly damaging	Het
Actr8	T	A	14: 29,706,099 (GRCm39)		probably null	Het
Adam7	A	C	14: 68,748,845 (GRCm39)	D467E	probably damaging	Het
Adamts18	A	T	8: 114,433,606 (GRCm39)	C1043S	probably damaging	Het
Adgrb3	T	G	1: 25,865,612 (GRCm39)	D77A	possibly damaging	Het
Arhgap20	T	A	9: 51,761,426 (GRCm39)	D1056E	probably benign	Het
Bco1	A	G	8: 117,840,330 (GRCm39)		probably null	Het
Btn2a2	A	T	13: 23,670,533 (GRCm39)	W67R	probably damaging	Het
Camkmt	A	T	17: 85,759,666 (GRCm39)	N269Y	possibly damaging	Het
Cand1	A	G	10: 119,045,933 (GRCm39)	F991L	possibly damaging	Het
Cchcr1	A	G	17: 35,835,597 (GRCm39)	K234E	possibly damaging	Het
Cd14	T	C	18: 36,859,335 (GRCm39)	D40G	possibly damaging	Het
Cdc73	A	T	1: 143,493,177 (GRCm39)	F386I	probably damaging	Het
Cdk14	C	T	5: 5,299,211 (GRCm39)	M1I	probably null	Het
Cnpy3	A	C	17: 47,047,790 (GRCm39)	S220A	probably benign	Het
Col22a1	A	G	15: 71,845,685 (GRCm39)	V359A	probably damaging	Het
Col6a3	C	A	1: 90,696,105 (GRCm39)	C2654F	unknown	Het
Colgalt2	A	G	1: 152,348,912 (GRCm39)	T186A	probably damaging	Het
Cpsf4l	A	G	11: 113,590,753 (GRCm39)	V199A	probably benign	Het
Dhtkd1	G	A	2: 5,908,836 (GRCm39)	Q753*	probably null	Het
Ep400	A	G	5: 110,852,825 (GRCm39)	S1307P	unknown	Het
Fer1l6	T	C	15: 58,518,893 (GRCm39)	V1675A	probably damaging	Het
Glis1	T	C	4: 107,425,103 (GRCm39)	L238P	probably damaging	Het
Iqgap3	T	A	3: 87,998,854 (GRCm39)	D318E	probably damaging	Het
Lats1	T	C	10: 7,581,359 (GRCm39)	F715L	probably damaging	Het
Mlxip	T	C	5: 123,583,721 (GRCm39)	F428S	possibly damaging	Het
Morc3	T	G	16: 93,663,381 (GRCm39)	I528R	possibly damaging	Het
Mtx1	C	T	3: 89,117,613 (GRCm39)	G60D	probably damaging	Het
Mug2	G	C	6: 122,060,459 (GRCm39)	Q1398H	probably null	Het
Mup8	T	C	4: 60,220,403 (GRCm39)	I110V	probably benign	Het
Nfkb1	A	T	3: 135,309,522 (GRCm39)	L12*	probably null	Het
Numa1	G	A	7: 101,641,926 (GRCm39)		probably null	Het
Or52e18	T	G	7: 104,609,870 (GRCm39)	E23A	probably damaging	Het
Pbk	C	T	14: 66,054,094 (GRCm39)	P213L	probably damaging	Het
Pdcd1lg2	T	A	19: 29,431,905 (GRCm39)	H224Q	possibly damaging	Het
Pkp1	C	G	1: 135,805,406 (GRCm39)		probably null	Het
Rela	A	G	19: 5,689,967 (GRCm39)	N139S	probably damaging	Het
Rgs3	G	A	4: 62,542,143 (GRCm39)	R39Q	probably damaging	Het
S1pr3	A	G	13: 51,573,731 (GRCm39)	E304G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Setmar	T	C	6: 108,053,387 (GRCm39)	S294P	possibly damaging	Het
Smc2	A	G	4: 52,459,024 (GRCm39)	N473S	probably benign	Het
Ssr1	TCTCTTTC	T	13: 38,169,972 (GRCm39)		probably null	Het
Tigd2	A	G	6: 59,187,762 (GRCm39)	I210V	possibly damaging	Het
Tmprss9	T	A	10: 80,719,555 (GRCm39)	F93L	possibly damaging	Het
U2surp	T	C	9: 95,361,360 (GRCm39)	Y633C	probably damaging	Het
Usp18	A	T	6: 121,239,781 (GRCm39)	E292V	possibly damaging	Het
Usp32	A	C	11: 84,883,277 (GRCm39)		probably null	Het
Utp18	T	C	11: 93,776,449 (GRCm39)	D12G	probably benign	Het
Vmn1r216	C	A	13: 23,283,928 (GRCm39)	H204N	probably benign	Het
Wdr97	T	C	15: 76,241,372 (GRCm39)	V626A	probably damaging	Het
Wwc1	A	T	11: 35,761,809 (GRCm39)	V619E	probably null	Het
Wwc1	T	C	11: 35,780,100 (GRCm39)	D285G	probably damaging	Het
Zfp3	A	T	11: 70,662,590 (GRCm39)	Q183L	probably benign	Het
Zfp955a	A	G	17: 33,460,660 (GRCm39)	C491R	probably 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
R2017: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
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'- CATGTTGACCAAACCATCTGG -3'
(R):5'- TTCACAGCGGTGGTGTACAG -3'

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

Posted On

2017-06-26