Mutagenetix > Incidental Mutation

Incidental Mutation 'R6975:Ift70a2'

542402

Institutional Source

Beutler Lab

Gene Symbol

Ift70a2

Ensembl Gene

ENSMUSG00000075272

Gene Name

intraflagellar transport 70A2

Synonyms

Ttc30a2, OTTMUSG00000015167

MMRRC Submission

045085-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6975 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75806516-75808523 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 75808004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 169 (Y169*)

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 null
Transcript: ENSMUST00000099995
AA Change: Y169*

SMART Domains

Protein: ENSMUSP00000097575
Gene: ENSMUSG00000075272
AA Change: Y169*

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,687 (GRCm39)	H100L	probably benign	Het
Apaf1	A	T	10: 90,856,596 (GRCm39)	H870Q	probably damaging	Het
Aplf	T	C	6: 87,623,068 (GRCm39)	D358G	probably damaging	Het
Atp10a	A	T	7: 58,423,733 (GRCm39)	S233C	probably damaging	Het
Ccdc158	A	T	5: 92,814,579 (GRCm39)	Y82*	probably null	Het
Clba1	C	T	12: 112,773,217 (GRCm39)	P70L	possibly damaging	Het
Cubn	T	C	2: 13,491,600 (GRCm39)	D149G	probably damaging	Het
Cyp4f14	T	C	17: 33,133,608 (GRCm39)	T83A	probably benign	Het
Endog	A	G	2: 30,061,648 (GRCm39)		probably benign	Het
Extl3	T	C	14: 65,304,246 (GRCm39)	E721G	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcn1	A	G	5: 115,751,518 (GRCm39)	H2033R	probably damaging	Het
Gm12830	T	C	4: 114,702,246 (GRCm39)	M136T		Het
Gm6871	T	C	7: 41,196,202 (GRCm39)		silent	Het
Hoxc4	T	C	15: 102,944,098 (GRCm39)	S159P	probably damaging	Het
Igf2bp2	T	A	16: 21,880,611 (GRCm39)	Q494L	probably null	Het
Igfn1	T	A	1: 135,896,183 (GRCm39)	N1461I	probably damaging	Het
Il23r	C	A	6: 67,400,352 (GRCm39)	K659N	probably damaging	Het
Map3k11	A	G	19: 5,740,755 (GRCm39)	S161G	possibly damaging	Het
Naip6	T	A	13: 100,452,773 (GRCm39)	Q96L	probably damaging	Het
Nup133	T	C	8: 124,642,057 (GRCm39)	E802G	probably damaging	Het
Nutm1	G	A	2: 112,086,563 (GRCm39)	S56F	probably damaging	Het
Or10x4	T	A	1: 174,219,243 (GRCm39)	S203T	probably benign	Het
Or51a24	T	C	7: 103,734,002 (GRCm39)	N95S	probably benign	Het
Otop2	A	T	11: 115,220,152 (GRCm39)	S331C	possibly damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Pkd1l3	A	G	8: 110,387,539 (GRCm39)	R1818G	possibly damaging	Het
Pms1	A	T	1: 53,228,590 (GRCm39)	I886N	probably damaging	Het
Pnpla6	A	G	8: 3,588,068 (GRCm39)	Y1107C	probably damaging	Het
Ppp3ca	A	G	3: 136,611,062 (GRCm39)	T362A	probably damaging	Het
Rarb	A	G	14: 16,574,942 (GRCm38)	S25P	possibly damaging	Het
Rnf121	A	T	7: 101,673,218 (GRCm39)		probably null	Het
Sae1	T	C	7: 16,070,712 (GRCm39)	Y266C	probably damaging	Het
Scpep1	A	T	11: 88,838,031 (GRCm39)	F85L	probably damaging	Het
Shank1	T	A	7: 43,962,530 (GRCm39)		probably null	Het
Slc40a1	T	C	1: 45,948,652 (GRCm39)	K543E	probably benign	Het
Slc9a9	A	G	9: 94,842,499 (GRCm39)	Y350C	probably damaging	Het
Sun2	G	T	15: 79,618,420 (GRCm39)	Y246*	probably null	Het
Tas1r2	T	A	4: 139,397,031 (GRCm39)	I790N	probably damaging	Het
Tmtc2	T	C	10: 105,158,863 (GRCm39)	T577A	probably benign	Het
Trim24	T	G	6: 37,896,427 (GRCm39)		probably null	Het
Ttc12	A	G	9: 49,349,718 (GRCm39)	V693A	probably benign	Het
Zbtb22	A	C	17: 34,136,938 (GRCm39)	D361A	probably damaging	Het
Zfp276	T	A	8: 123,983,570 (GRCm39)	C324*	probably null	Het
Zfp536	A	G	7: 37,267,952 (GRCm39)	L488P	probably damaging	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
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	75,806,752 (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'- CTGGTGAAGGACTACAGTGTTGC -3'
(R):5'- CGAGTCCTTCGTTTACAAGCTG -3'

Sequencing Primer
(F):5'- GAACATCAATGCCCTCCGTGG -3'
(R):5'- CAAGCTGCTATCAAGTACAGTG -3'

Posted On

2018-11-28