Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02724:Ift70a2'

305067

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ift70a2

Ensembl Gene

ENSMUSG00000075272

Gene Name

intraflagellar transport 70A2

Synonyms

Ttc30a2, OTTMUSG00000015167

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

75806516-75808523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75806682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 610 (E610G)

Ref Sequence

ENSEMBL: ENSMUSP00000097575 (fasta)

Gene Model

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

AlphaFold

A2AKQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000099994

SMART Domains

Protein: ENSMUSP00000097574
Gene: ENSMUSG00000075271

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
AA Change: E610G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272
AA Change: E610G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,676,121 (GRCm39)	K85Q	probably damaging	Het
Acmsd	A	T	1: 127,676,822 (GRCm39)	T116S	possibly damaging	Het
Agrn	T	A	4: 156,257,264 (GRCm39)	K1189*	probably null	Het
Alk	T	C	17: 72,292,455 (GRCm39)	R508G	probably benign	Het
Arhgap23	T	A	11: 97,382,005 (GRCm39)	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,209,365 (GRCm39)	M133I	probably benign	Het
Axin2	G	A	11: 108,833,772 (GRCm39)	G573D	possibly damaging	Het
B4galt2	A	G	4: 117,734,075 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,807,718 (GRCm39)	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,727,149 (GRCm39)	Y460*	probably null	Het
Cct7	A	T	6: 85,436,131 (GRCm39)	D14V	probably damaging	Het
Cd55	T	A	1: 130,377,149 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh2	C	T	18: 16,762,537 (GRCm39)	R526Q	probably benign	Het
Chi3l1	A	C	1: 134,116,981 (GRCm39)	E315A	probably damaging	Het
Cmya5	A	G	13: 93,233,163 (GRCm39)	S642P	probably benign	Het
Cpm	C	A	10: 117,465,756 (GRCm39)	T43K	probably damaging	Het
Cracd	T	C	5: 77,006,306 (GRCm39)	V889A	unknown	Het
Cyp8b1	A	T	9: 121,744,453 (GRCm39)	V293D	probably benign	Het
Dock1	T	G	7: 134,765,082 (GRCm39)	D1691E	probably benign	Het
Fasn	T	C	11: 120,700,659 (GRCm39)	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,263,679 (GRCm39)	K440R	probably benign	Het
Gfpt1	A	T	6: 87,033,164 (GRCm39)	K130*	probably null	Het
Gpr26	T	C	7: 131,576,121 (GRCm39)		probably null	Het
Htr2a	A	T	14: 74,882,502 (GRCm39)	I163F	probably damaging	Het
Insrr	A	G	3: 87,716,879 (GRCm39)	D673G	probably benign	Het
Ipo8	G	T	6: 148,692,979 (GRCm39)	C636*	probably null	Het
Kirrel1	C	A	3: 86,997,780 (GRCm39)	E248*	probably null	Het
Lrp6	A	G	6: 134,461,228 (GRCm39)	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,609,144 (GRCm39)	S374R	probably benign	Het
Map3k9	G	A	12: 81,771,516 (GRCm39)	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,039,121 (GRCm39)	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,478,000 (GRCm39)	W902L	probably benign	Het
Nfat5	T	A	8: 108,085,367 (GRCm39)	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,834,817 (GRCm39)	V713A	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,005,011 (GRCm39)		probably null	Het
Or4c15	C	A	2: 88,759,792 (GRCm39)	R289L	probably damaging	Het
Or8s10	T	A	15: 98,335,660 (GRCm39)	F103L	probably benign	Het
Pax9	A	T	12: 56,756,604 (GRCm39)	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,190,592 (GRCm39)	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,149,296 (GRCm39)	E536G	probably benign	Het
Plekhm3	A	G	1: 64,834,276 (GRCm39)	S736P	probably damaging	Het
Ppp3cb	T	A	14: 20,573,645 (GRCm39)		probably null	Het
Prdm9	A	T	17: 15,783,522 (GRCm39)	S14R	probably benign	Het
Proc	A	G	18: 32,267,925 (GRCm39)	I71T	probably damaging	Het
Prom2	T	A	2: 127,380,577 (GRCm39)		probably benign	Het
Psd	T	C	19: 46,307,984 (GRCm39)	T675A	probably benign	Het
Rnf215	G	T	11: 4,090,305 (GRCm39)	R341L	probably damaging	Het
Ryr3	A	G	2: 112,732,921 (GRCm39)		probably null	Het
Sh2d7	C	A	9: 54,448,105 (GRCm39)	T42N	probably benign	Het
Sh3glb2	C	T	2: 30,236,368 (GRCm39)	G279D	probably benign	Het
Slc25a46	A	G	18: 31,738,868 (GRCm39)		probably benign	Het
Snx17	T	C	5: 31,354,390 (GRCm39)	S167P	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,067,104 (GRCm39)	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Srsf11	T	C	3: 157,722,068 (GRCm39)		probably benign	Het
Taar7b	A	T	10: 23,876,581 (GRCm39)	M249L	probably benign	Het
Tle6	G	A	10: 81,435,898 (GRCm39)	Q6*	probably null	Het
Twnk	G	T	19: 44,996,557 (GRCm39)	R330L	probably damaging	Het
Unc13a	C	A	8: 72,108,949 (GRCm39)		probably benign	Het
Vmn2r107	A	G	17: 20,577,006 (GRCm39)	T335A	possibly damaging	Het
Wdtc1	A	T	4: 133,024,789 (GRCm39)	S469R	possibly damaging	Het
Ypel1	A	G	16: 16,921,466 (GRCm39)	Y73H	probably benign	Het
Zfp382	A	T	7: 29,833,162 (GRCm39)	Y271F	probably benign	Het

Other mutations in Ift70a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03269:Ift70a2	APN	2	75,808,479 (GRCm39)	missense	possibly damaging	0.50
R0011:Ift70a2	UTSW	2	75,806,561 (GRCm39)	missense	probably damaging	1.00
R0751:Ift70a2	UTSW	2	75,808,375 (GRCm39)	missense	probably damaging	0.99
R0766:Ift70a2	UTSW	2	75,806,676 (GRCm39)	missense	probably benign	0.00
R0835:Ift70a2	UTSW	2	75,808,494 (GRCm39)	missense	probably benign
R1133:Ift70a2	UTSW	2	75,807,727 (GRCm39)	nonsense	probably null
R1212:Ift70a2	UTSW	2	75,806,823 (GRCm39)	missense	probably damaging	1.00
R1312:Ift70a2	UTSW	2	75,806,676 (GRCm39)	missense	probably benign	0.00
R4780:Ift70a2	UTSW	2	75,807,920 (GRCm39)	missense	probably benign	0.19
R4799:Ift70a2	UTSW	2	75,807,729 (GRCm39)	missense	probably benign	0.01
R4847:Ift70a2	UTSW	2	75,808,058 (GRCm39)	missense	probably benign	0.03
R5176:Ift70a2	UTSW	2	75,807,421 (GRCm39)	missense	probably benign
R5390:Ift70a2	UTSW	2	75,807,630 (GRCm39)	missense	probably damaging	1.00
R5724:Ift70a2	UTSW	2	75,808,074 (GRCm39)	missense	probably benign
R6975:Ift70a2	UTSW	2	75,808,004 (GRCm39)	nonsense	probably null
R6975:Ift70a2	UTSW	2	75,806,752 (GRCm39)	missense	probably damaging	1.00
R7028:Ift70a2	UTSW	2	75,806,613 (GRCm39)	nonsense	probably null
R7234:Ift70a2	UTSW	2	75,806,540 (GRCm39)	nonsense	probably null
R7246:Ift70a2	UTSW	2	75,808,023 (GRCm39)	missense	probably damaging	1.00
R7792:Ift70a2	UTSW	2	75,807,273 (GRCm39)	missense	probably benign	0.04
R8073:Ift70a2	UTSW	2	75,806,997 (GRCm39)	missense	probably damaging	1.00
R9038:Ift70a2	UTSW	2	75,808,215 (GRCm39)	missense	probably benign	0.09
R9278:Ift70a2	UTSW	2	75,807,375 (GRCm39)	missense	probably damaging	1.00
R9454:Ift70a2	UTSW	2	75,806,812 (GRCm39)	missense	probably benign	0.05
R9694:Ift70a2	UTSW	2	75,807,691 (GRCm39)	missense	probably benign	0.41

Posted On

2015-04-16