Mutagenetix > Incidental Mutations

Incidental Mutation 'R4308:Iqca'

324081

Institutional Source

Beutler Lab

Gene Symbol

Iqca

Ensembl Gene

ENSMUSG00000026301

Gene Name

IQ motif containing with AAA domain

Synonyms

MMRRC Submission

041659-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90042132-90153401 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90144897 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 87 (K87R)

Ref Sequence

ENSEMBL: ENSMUSP00000148643 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113094
AA Change: K87R

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

SMART Domains

Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: K87R

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: ENSMUST00000186522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211999

Predicted Effect

probably damaging
Transcript: ENSMUST00000212394
AA Change: K87R

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

Meta Mutation Damage Score

0.1489

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,440,192	T4425M	probably damaging	Het
Arhgef5	C	T	6: 43,279,498	A1180V	probably damaging	Het
Asap2	T	C	12: 21,229,481	I426T	probably damaging	Het
Ascc1	T	G	10: 60,013,612	H108Q	probably benign	Het
Bod1l	A	T	5: 41,791,813	S2989T	possibly damaging	Het
Cfap157	G	A	2: 32,779,042	R350W	probably damaging	Het
Cyp39a1	T	A	17: 43,730,964		probably null	Het
Dars2	A	G	1: 161,041,721	S653P	probably damaging	Het
Fam208b	A	C	13: 3,569,498	S2244R	probably damaging	Het
Fancm	A	T	12: 65,126,531	K1872N	probably benign	Het
Fktn	C	T	4: 53,724,617		probably benign	Het
Gpr33	A	T	12: 52,023,640	C205*	probably null	Het
Gsdmc2	A	G	15: 63,848,705		probably benign	Het
Il31	A	G	5: 123,480,706	S6P	probably damaging	Het
Kif15	T	G	9: 123,013,982	H47Q	probably benign	Het
L3mbtl3	C	T	10: 26,282,792	A653T	unknown	Het
Lamb1	T	C	12: 31,329,255	L1737P	probably damaging	Het
Map2k5	C	G	9: 63,235,304	R353S	probably benign	Het
Mical2	C	A	7: 112,331,992	L721I	probably benign	Het
Myo1b	T	C	1: 51,883,109	K37E	probably benign	Het
Myo5b	A	G	18: 74,731,740	D1369G	possibly damaging	Het
Npc1	C	T	18: 12,210,527	A470T	possibly damaging	Het
Olfr1148	T	C	2: 87,833,270	I77T	probably damaging	Het
Olfr116	C	T	17: 37,623,736	V300I	possibly damaging	Het
Pcdhb1	A	T	18: 37,266,661	D555V	probably benign	Het
Prr27	A	G	5: 87,842,907	H126R	probably benign	Het
Rbm20	A	G	19: 53,843,260	S642G	probably damaging	Het
Rnf144b	A	G	13: 47,242,942	N252D	probably damaging	Het
Rnf219	T	A	14: 104,479,593	N448I	probably damaging	Het
Rwdd2b	A	T	16: 87,436,727	W162R	probably damaging	Het
Scaf11	A	G	15: 96,446,515	M19T	probably benign	Het
Sft2d2	A	G	1: 165,188,264	I45T	probably benign	Het
Skint5	A	T	4: 113,483,967	H1371Q	unknown	Het
Tas2r124	A	G	6: 132,754,991	I88V	probably benign	Het
Ubr4	T	C	4: 139,472,509	V4568A	possibly damaging	Het
Vmn2r12	A	G	5: 109,086,006	L780P	probably damaging	Het
Vmn2r18	A	T	5: 151,584,803	Y285*	probably null	Het
Wnk2	C	T	13: 49,090,837	D508N	probably damaging	Het
Zfp983	A	G	17: 21,662,208	I351V	probably benign	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
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
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	intron	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
R7924:Iqca	UTSW	1	90059615	missense
R8069:Iqca	UTSW	1	90045744	missense	probably damaging	0.96
Z1176:Iqca	UTSW	1	90045725	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- AAGCCTGGCGAAGAAGTCTG -3'
(R):5'- ATAAGATGTGGCACCAGACC -3'

Sequencing Primer
(F):5'- GTCTGCAGACAATGGGACAC -3'
(R):5'- AGTTTCAGAAGATGTCCGAACC -3'

Posted On

2015-06-24