Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01545:Iqca'

90282

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01545

Quality Score

Status

Chromosome

Chromosomal Location

90042132-90153401 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90045642 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 803 (M803L)

Ref Sequence

ENSEMBL: ENSMUSP00000148643 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113094
AA Change: M775L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: M775L

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: M803L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	G	A	11: 30,426,228	S213L	probably benign	Het
Adgrv1	A	G	13: 81,466,184	I4030T	possibly damaging	Het
Ap4b1	G	A	3: 103,812,827	R55H	probably benign	Het
Arap3	G	A	18: 37,990,836	R377C	probably damaging	Het
Atp6v1h	T	A	1: 5,089,059	M55K	probably benign	Het
B3galt4	A	C	17: 33,951,213	V17G	probably benign	Het
Cd79a	A	T	7: 24,901,266	M172L	probably benign	Het
Cry1	A	T	10: 85,184,362	L37H	possibly damaging	Het
D430042O09Rik	A	G	7: 125,752,971		probably null	Het
D5Ertd615e	A	T	5: 45,169,413		noncoding transcript	Het
Dnah17	A	T	11: 118,119,568	L308Q	probably damaging	Het
Dnah7a	C	T	1: 53,518,782	A2158T	probably benign	Het
Dusp2	A	G	2: 127,337,775	T313A	probably benign	Het
Fam110c	T	C	12: 31,074,983	S315P	probably damaging	Het
Fcer2a	G	A	8: 3,683,598	R198*	probably null	Het
Fryl	G	A	5: 73,054,597	T2359M	probably damaging	Het
Gm14221	G	A	2: 160,568,383		noncoding transcript	Het
Gpc6	T	G	14: 117,964,830	L484R	probably damaging	Het
Igdcc3	G	A	9: 65,180,073	V298M	probably damaging	Het
Impg2	T	A	16: 56,225,717		probably benign	Het
Itga4	T	C	2: 79,315,970		probably benign	Het
Kidins220	T	C	12: 25,040,460	F1141S	possibly damaging	Het
Kif7	A	G	7: 79,702,278	I912T	probably damaging	Het
Klhl38	G	A	15: 58,322,458	R292W	probably damaging	Het
Lama3	A	G	18: 12,441,131	D590G	probably benign	Het
Map4k4	T	C	1: 40,014,229		probably benign	Het
Mbd4	A	T	6: 115,850,797	D39E	probably damaging	Het
Mrm2	A	G	5: 140,331,255	V8A	probably benign	Het
Myod1	A	T	7: 46,377,115	E148V	probably damaging	Het
Olfr74	A	C	2: 87,974,551	I38S	probably benign	Het
Pdcd10	A	T	3: 75,541,168	F30I	possibly damaging	Het
Ptcd1	T	A	5: 145,159,536	H249L	probably damaging	Het
Ptcd3	A	T	6: 71,888,577	D451E	probably benign	Het
Rab44	C	A	17: 29,147,377	S680R	unknown	Het
Rad21l	A	T	2: 151,655,164	D340E	probably benign	Het
Ranbp2	T	C	10: 58,478,881	F1808L	possibly damaging	Het
Rnf122	T	C	8: 31,128,602	V126A	probably damaging	Het
Slc25a47	G	T	12: 108,854,216	V49L	probably benign	Het
Slc36a2	T	C	11: 55,184,807		probably null	Het
Sorl1	G	A	9: 42,043,956	R668W	probably damaging	Het
Tbx19	T	A	1: 165,139,156	N383I	possibly damaging	Het
Tenm4	A	G	7: 96,874,303	H1676R	probably benign	Het
Tgm5	G	T	2: 121,052,808	R351S	probably damaging	Het
Tmem106b	A	G	6: 13,071,843	S34G	probably benign	Het
Trmo	C	T	4: 46,386,169	G119R	probably damaging	Het
Ubr4	G	A	4: 139,442,829		probably benign	Het
Wfdc11	A	G	2: 164,665,445		probably null	Het
Xrn2	T	A	2: 147,038,179	I474K	probably benign	Het
Zfp827	A	G	8: 79,070,434	K383R	probably damaging	Het

Other mutations in Iqca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Iqca	APN	1	90045657	missense	probably benign	0.10
IGL01367:Iqca	APN	1	90070628	splice site	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
Z1176:Iqca	UTSW	1	90045725	missense	probably benign	0.26

Posted On

2013-12-03