Mutagenetix > Incidental Mutation

Incidental Mutation 'R5390:Ift70a2'

425504

Institutional Source

Beutler Lab

Gene Symbol

Ift70a2

Ensembl Gene

ENSMUSG00000075272

Gene Name

intraflagellar transport 70A2

Synonyms

Ttc30a2, OTTMUSG00000015167

MMRRC Submission

042962-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5390 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

75806516-75808523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75807630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 294 (L294Q)

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 damaging
Transcript: ENSMUST00000099995
AA Change: L294Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272
AA Change: L294Q

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,406,772 (GRCm39)		probably benign	Het
Anxa4	G	A	6: 86,730,865 (GRCm39)	T104M	probably damaging	Het
BC048562	G	T	9: 108,313,777 (GRCm39)	W9L	probably damaging	Het
Cachd1	T	A	4: 100,838,203 (GRCm39)	M822K	probably damaging	Het
Clec4g	C	A	8: 3,768,441 (GRCm39)	V97L	probably benign	Het
Ddx19a	G	A	8: 111,707,263 (GRCm39)	Q176*	probably null	Het
Eml6	T	C	11: 29,710,096 (GRCm39)	H1413R	probably damaging	Het
Fam161b	C	T	12: 84,395,408 (GRCm39)	V512M	probably damaging	Het
Glcci1	A	T	6: 8,537,835 (GRCm39)	Q151L	probably benign	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Gpnmb	A	T	6: 49,024,775 (GRCm39)	D269V	probably damaging	Het
Gpx3	A	T	11: 54,800,375 (GRCm39)	D191V	probably damaging	Het
Grm4	C	T	17: 27,653,712 (GRCm39)	C491Y	probably damaging	Het
H2-M10.4	T	A	17: 36,771,533 (GRCm39)	H215L	probably damaging	Het
Hrc	T	A	7: 44,984,909 (GRCm39)	L20Q	probably damaging	Het
Hsd17b6	T	A	10: 127,827,308 (GRCm39)	M255L	probably benign	Het
Hydin	A	T	8: 111,322,099 (GRCm39)	I4584L	probably benign	Het
Ints5	T	A	19: 8,873,931 (GRCm39)	I630K	possibly damaging	Het
Kctd10	A	G	5: 114,503,764 (GRCm39)	I296T	possibly damaging	Het
Ltv1	G	A	10: 13,058,103 (GRCm39)	R234C	probably damaging	Het
Macf1	A	G	4: 123,365,546 (GRCm39)	S1507P	probably damaging	Het
Megf8	G	A	7: 25,039,714 (GRCm39)	G936D	possibly damaging	Het
Ms4a4d	T	C	19: 11,526,004 (GRCm39)		probably null	Het
Net1	C	T	13: 3,943,379 (GRCm39)	A3T	probably benign	Het
Nlrp2	T	C	7: 5,303,908 (GRCm39)	M206V	probably benign	Het
Or1j1	C	T	2: 36,702,444 (GRCm39)	R220H	probably benign	Het
Or5an1b	T	A	19: 12,299,505 (GRCm39)	I229F	probably damaging	Het
Pcyox1l	T	C	18: 61,832,433 (GRCm39)	I205V	probably benign	Het
Pigo	A	G	4: 43,019,645 (GRCm39)		probably null	Het
Pla2g6	A	T	15: 79,173,893 (GRCm39)	S590T	possibly damaging	Het
Pwp2	T	C	10: 78,013,605 (GRCm39)	T539A	possibly damaging	Het
Rag1	T	C	2: 101,473,079 (GRCm39)	T688A	probably benign	Het
Senp7	A	G	16: 55,990,279 (GRCm39)	T676A	probably benign	Het
Slc26a6	T	C	9: 108,738,499 (GRCm39)		probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Sorbs2	A	G	8: 46,272,778 (GRCm39)	H653R	probably damaging	Het
Stk3	T	A	15: 35,114,706 (GRCm39)	K67*	probably null	Het
Tctn2	A	ACC	5: 124,762,400 (GRCm39)		probably benign	Homo
Ttn	T	C	2: 76,540,395 (GRCm39)	Y34197C	probably damaging	Het
Ufc1	A	C	1: 171,117,746 (GRCm39)	L56R	probably damaging	Het
Usp34	T	A	11: 23,394,202 (GRCm39)		probably null	Het
Vnn3	T	A	10: 23,727,483 (GRCm39)	M1K	probably null	Het
Zfp653	C	A	9: 21,969,099 (GRCm39)		probably null	Het

Other mutations in Ift70a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02724:Ift70a2	APN	2	75,806,682 (GRCm39)	missense	probably benign	0.16
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCAAGTGATCATGGCATCC -3'
(R):5'- TGTTCGCAGTGTTGGCAAC -3'

Sequencing Primer
(F):5'- TGATCATGGCATCCAAGAAGTC -3'
(R):5'- GGCAACACTGTAGTCCTTCAC -3'

Posted On

2016-08-04