Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00966:Iqca'

26734

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqca

Ensembl Gene

ENSMUSG00000026301

Gene Name

IQ motif containing with AAA domain

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00966

Quality Score

Status

Chromosome

Chromosomal Location

90042132-90153401 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90045657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 770 (I770F)

Ref Sequence

ENSEMBL: ENSMUSP00000108717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113094] [ENSMUST00000212394]

AlphaFold

Q9CUL5

Predicted Effect

probably benign
Transcript: ENSMUST00000113094
AA Change: I770F

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: I770F

Domain	Start	End	E-Value	Type
IQ	205	227	6.97e0	SMART
coiled coil region	340	380	N/A	INTRINSIC
coiled coil region	425	450	N/A	INTRINSIC
low complexity region	464	487	N/A	INTRINSIC
AAA	567	706	1.08e-3	SMART
low complexity region	812	829	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189690

Predicted Effect

probably benign
Transcript: ENSMUST00000212394
AA Change: I798F

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212859

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	C	A	7: 29,537,463		noncoding transcript	Het
5430419D17Rik	T	A	7: 131,243,107	Y692*	probably null	Het
Acad11	A	G	9: 104,126,656	E649G	probably damaging	Het
Adgre1	C	A	17: 57,419,335	T402K	probably benign	Het
Agap3	A	G	5: 24,501,002		probably benign	Het
Amy1	T	C	3: 113,556,040	I494V	probably benign	Het
Arhgef40	G	A	14: 51,991,698		probably null	Het
Atp2c2	T	C	8: 119,745,590	V461A	probably benign	Het
Bub1	A	G	2: 127,810,663	S595P	probably damaging	Het
Cmya5	C	T	13: 93,097,906	V225I	probably benign	Het
Cnbd1	T	C	4: 18,906,988		probably benign	Het
Cux1	A	T	5: 136,311,491		probably benign	Het
Dsg3	T	A	18: 20,523,607	I178N	probably benign	Het
Dus2	T	A	8: 106,025,901		probably null	Het
Enpp1	G	A	10: 24,654,031	H570Y	probably damaging	Het
Ephb3	A	C	16: 21,217,294	T57P	probably benign	Het
Fat3	C	A	9: 15,999,094	V1871F	possibly damaging	Het
Fbll1	T	C	11: 35,798,047	T130A	probably benign	Het
Fbxl20	C	T	11: 98,110,974	S99N	probably damaging	Het
Folr2	T	C	7: 101,840,386	E182G	probably damaging	Het
Fras1	A	G	5: 96,555,221	D281G	probably benign	Het
Gm17175	G	T	14: 51,573,069	Q34K	possibly damaging	Het
Gm5592	T	A	7: 41,289,095	D600E	probably damaging	Het
Gtf2e1	T	C	16: 37,515,730	E294G	probably benign	Het
Gtf3c2	A	G	5: 31,170,173		probably benign	Het
Heg1	T	C	16: 33,710,607	L151P	probably damaging	Het
Hmcn2	T	G	2: 31,428,994	V3902G	probably damaging	Het
Ift140	A	G	17: 25,018,802	Y4C	probably damaging	Het
Ighv1-19	A	C	12: 114,708,949	V17G	possibly damaging	Het
Jak3	T	A	8: 71,679,012	C115S	probably benign	Het
Kif18b	A	T	11: 102,914,675	M252K	probably damaging	Het
Klhdc7a	A	T	4: 139,966,925	V237D	probably benign	Het
Klhl11	C	T	11: 100,463,205	V597I	possibly damaging	Het
Krt72	T	A	15: 101,780,961	Y312F	probably damaging	Het
Lonp2	T	A	8: 86,633,972	I191N	probably damaging	Het
Npc2	A	T	12: 84,772,845	I8N	possibly damaging	Het
Nr4a1	T	C	15: 101,272,788	L413P	probably damaging	Het
Nup133	T	C	8: 123,911,906	N895S	probably damaging	Het
Olfr869	T	C	9: 20,137,235	F40L	probably benign	Het
Ppef1	A	G	X: 160,685,294	I94T	probably benign	Het
Prrt4	G	A	6: 29,176,456	T290I	probably benign	Het
Ptpru	A	T	4: 131,772,616	V1239E	probably damaging	Het
Rab8b	T	G	9: 66,852,992	M117L	probably benign	Het
S1pr5	T	A	9: 21,244,216	I305F	possibly damaging	Het
Sdr39u1	A	G	14: 55,898,006	V160A	probably damaging	Het
Slc6a21	C	T	7: 45,288,244	T653M	probably benign	Het
Stk39	T	A	2: 68,211,958	E544D	probably benign	Het
Tgfbr3	T	C	5: 107,142,501	T313A	probably benign	Het
Tle6	A	T	10: 81,594,458	L287M	probably damaging	Het
Tmc2	A	G	2: 130,264,012	H821R	probably benign	Het
Tmem230	G	T	2: 132,245,977	D26E	probably benign	Het
Tnfaip3	A	G	10: 19,005,137	F394S	probably damaging	Het
Ttn	T	A	2: 76,811,377	L13458F	probably damaging	Het
Vwa5a	A	T	9: 38,723,379	N161I	probably benign	Het

Other mutations in Iqca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Iqca	APN	1	90070628	splice site	probably benign
IGL01545:Iqca	APN	1	90045642	missense	probably benign
IGL01797:Iqca	APN	1	90144819	critical splice donor site	probably null
IGL02098:Iqca	APN	1	90047941	missense	probably damaging	0.96
IGL02194:Iqca	APN	1	90045663	missense	probably benign	0.16
IGL03230:Iqca	APN	1	90145002	missense	probably damaging	1.00
IGL03259:Iqca	APN	1	90052434	missense	probably damaging	1.00
IGL03372:Iqca	APN	1	90144969	missense	possibly damaging	0.80
R0383:Iqca	UTSW	1	90142707	missense	probably damaging	1.00
R0610:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0685:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0798:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0799:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0800:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0801:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0825:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0826:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0827:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0862:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0863:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0864:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0960:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0961:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0962:Iqca	UTSW	1	90142731	missense	probably null	0.97
R0963:Iqca	UTSW	1	90142731	missense	probably null	0.97
R1101:Iqca	UTSW	1	90142731	missense	probably null	0.97
R1344:Iqca	UTSW	1	90142731	missense	probably null	0.97
R1523:Iqca	UTSW	1	90142731	missense	probably null	0.97
R1646:Iqca	UTSW	1	90140038	missense	probably damaging	0.98
R1682:Iqca	UTSW	1	90142731	missense	probably null	0.97
R1742:Iqca	UTSW	1	90098051	missense	probably benign	0.01
R1774:Iqca	UTSW	1	90080903	missense	probably benign	0.02
R1775:Iqca	UTSW	1	90081416	missense	probably damaging	1.00
R2011:Iqca	UTSW	1	90045626	missense	probably benign	0.00
R2065:Iqca	UTSW	1	90130231	missense	probably benign	0.01
R2156:Iqca	UTSW	1	90089516	missense	possibly damaging	0.78
R2186:Iqca	UTSW	1	90081344	missense	probably benign	0.06
R3872:Iqca	UTSW	1	90089481	missense	probably damaging	1.00
R4308:Iqca	UTSW	1	90144897	missense	probably damaging	1.00
R4578:Iqca	UTSW	1	90073750	missense	probably damaging	0.98
R4737:Iqca	UTSW	1	90077822	missense	probably damaging	0.99
R4867:Iqca	UTSW	1	90089504	missense	probably benign	0.00
R4884:Iqca	UTSW	1	90140037	missense	probably benign	0.10
R4887:Iqca	UTSW	1	90045701	missense	probably damaging	1.00
R5352:Iqca	UTSW	1	90130196	missense	probably benign	0.00
R5733:Iqca	UTSW	1	90070535	missense	probably damaging	0.97
R5838:Iqca	UTSW	1	90144945	missense	probably benign	0.22
R5951:Iqca	UTSW	1	90140097	splice site	probably null
R5957:Iqca	UTSW	1	90080948	missense	probably damaging	1.00
R6696:Iqca	UTSW	1	90130200	missense	probably benign
R7240:Iqca	UTSW	1	90070550	missense	possibly damaging	0.88
R7769:Iqca	UTSW	1	90077810	missense	possibly damaging	0.82
R7841:Iqca	UTSW	1	90059615	missense
R8069:Iqca	UTSW	1	90045744	missense	probably damaging	0.96
R8103:Iqca	UTSW	1	90059608	missense
R8932:Iqca	UTSW	1	90140028	missense	probably damaging	1.00
R8963:Iqca	UTSW	1	90139927	missense	probably benign	0.02
R9055:Iqca	UTSW	1	90070613	missense	probably benign	0.02
R9168:Iqca	UTSW	1	90138215	missense	probably damaging	0.98
R9342:Iqca	UTSW	1	90144966	missense	probably damaging	0.99
R9647:Iqca	UTSW	1	90070536	missense	probably benign	0.15
Z1176:Iqca	UTSW	1	90045725	missense	probably benign	0.26

Posted On

2013-04-17