Mutagenetix > Incidental Mutations

Incidental Mutation 'R0827:Iqca'

78272

Institutional Source

Beutler Lab

Gene Symbol

Iqca

Ensembl Gene

ENSMUSG00000026301

Gene Name

IQ motif containing with AAA domain

Synonyms

MMRRC Submission

039007-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90042132-90153401 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 90142731 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 133 (G133V)

Ref Sequence

ENSEMBL: ENSMUSP00000108717 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000113094
AA Change: G133V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: G133V

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

probably null
Transcript: ENSMUST00000113094
AA Change: G133V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: G133V

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 null
Transcript: ENSMUST00000212394
AA Change: G133V

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably null
Transcript: ENSMUST00000212394
AA Change: G133V

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.1927

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.6%

Validation Efficiency

100% (88/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 79,099,671	S1397P	probably benign	Het
Adamts15	T	C	9: 30,921,480	Y253C	probably damaging	Het
Ankk1	A	G	9: 49,421,737	I149T	possibly damaging	Het
Ankrd63	A	G	2: 118,702,553	S296P	possibly damaging	Het
Arpc1b	T	G	5: 145,125,756	C227G	probably benign	Het
B4gat1	A	G	19: 5,039,697	R241G	possibly damaging	Het
Ccar2	T	C	14: 70,139,838	N751D	probably benign	Het
Cd55b	T	C	1: 130,414,236	I221M	probably damaging	Het
Cntn5	A	G	9: 9,666,938	V1032A	possibly damaging	Het
Col11a1	G	A	3: 114,138,765	R113H	unknown	Het
Colec10	G	A	15: 54,462,584	C270Y	probably damaging	Het
Ctnnbl1	C	T	2: 157,799,417		probably benign	Het
Cyp2j12	T	G	4: 96,112,862		probably benign	Het
Dennd5a	G	A	7: 109,899,731	T999M	probably damaging	Het
Dusp13	C	A	14: 21,742,771	V29L	probably benign	Het
Efr3a	A	C	15: 65,853,551	D83A	possibly damaging	Het
Elmod2	A	G	8: 83,316,795		probably null	Het
Eml3	C	A	19: 8,938,466	T640K	probably damaging	Het
Eps8l1	T	C	7: 4,477,389	V543A	possibly damaging	Het
Ermn	T	C	2: 58,048,251	K117E	probably damaging	Het
F830045P16Rik	A	G	2: 129,472,776	S194P	probably benign	Het
Faim2	A	G	15: 99,524,736	V60A	probably benign	Het
Fancd2	G	A	6: 113,586,249		probably null	Het
Fbxo43	A	T	15: 36,162,969	S31T	possibly damaging	Het
Gab2	G	A	7: 97,300,332	R411Q	probably damaging	Het
Gm17727	A	T	9: 35,777,851	L12Q	probably damaging	Het
Gpm6a	A	T	8: 55,058,883	D264V	probably damaging	Het
Hist1h1t	A	G	13: 23,696,221	D119G	probably benign	Het
Hsp90aa1	T	C	12: 110,692,695	E556G	probably benign	Het
Ifi203	A	T	1: 173,928,463		probably benign	Het
Kcnc3	A	G	7: 44,595,206	T307A	probably damaging	Het
Kin	C	A	2: 10,090,376		probably benign	Het
Knl1	T	C	2: 119,088,901		probably benign	Het
Lrp4	G	A	2: 91,495,041	V1404M	probably damaging	Het
Lrrc71	T	A	3: 87,742,645		probably null	Het
Med13l	T	C	5: 118,726,247		probably benign	Het
Mfap5	A	G	6: 122,520,920	D39G	probably damaging	Het
Mlxipl	T	C	5: 135,132,738	S504P	probably benign	Het
Myo3a	T	G	2: 22,558,215	Y1D	probably damaging	Het
Nek1	A	G	8: 61,105,648		probably benign	Het
Nfkbiz	T	C	16: 55,816,367	R524G	probably damaging	Het
Npbwr1	T	C	1: 5,916,789	T169A	possibly damaging	Het
Nuggc	T	C	14: 65,608,891	Y84H	probably damaging	Het
Nxph3	G	A	11: 95,511,426	S54L	probably benign	Het
Olfr311	T	C	11: 58,841,771	I219T	probably damaging	Het
Olfr532	A	G	7: 140,419,467	F102S	probably damaging	Het
Ostn	A	G	16: 27,324,631	N70D	probably damaging	Het
Pcdhb2	G	A	18: 37,295,657	V228I	possibly damaging	Het
Pnpla6	A	T	8: 3,517,618	M109L	possibly damaging	Het
Ppil6	T	A	10: 41,494,504		probably benign	Het
Prss46	A	G	9: 110,851,432	N215S	probably benign	Het
Ptprd	A	T	4: 76,128,915	D371E	probably damaging	Het
Ripor2	T	A	13: 24,694,186	F315I	probably damaging	Het
Rmi2	G	A	16: 10,835,240	G51S	probably damaging	Het
Scg3	A	G	9: 75,683,697	I10T	possibly damaging	Het
Scn9a	T	A	2: 66,536,124	K761*	probably null	Het
Scyl2	A	G	10: 89,657,865	L347P	possibly damaging	Het
Sh3d21	A	G	4: 126,152,271		probably benign	Het
Shc1	T	A	3: 89,426,783		probably null	Het
Slbp	A	G	5: 33,643,822	S182P	probably damaging	Het
Slc24a1	C	T	9: 64,928,190	G885D	probably benign	Het
Slc24a3	T	C	2: 145,518,492		probably benign	Het
Sowahb	T	G	5: 93,043,286	N525H	probably damaging	Het
Sppl3	T	A	5: 115,082,333	C101*	probably null	Het
Srsf5	A	G	12: 80,949,540	K163E	probably damaging	Het
Sult2a4	A	G	7: 13,984,961	I119T	probably benign	Het
Svep1	A	G	4: 58,053,113		probably benign	Het
Tas1r3	G	A	4: 155,860,869	R632W	probably benign	Het
Tlr4	T	A	4: 66,833,880		probably null	Het
Tmf1	A	C	6: 97,158,050	L1001*	probably null	Het
Tnnt2	A	G	1: 135,843,796		probably benign	Het
Trank1	G	A	9: 111,349,417		probably benign	Het
Trdn	A	T	10: 33,399,158		probably benign	Het
Trmt6	A	T	2: 132,815,834	V34E	probably damaging	Het
Trrap	T	C	5: 144,814,830	F1699L	probably benign	Het
Ttk	A	G	9: 83,843,915	R250G	probably benign	Het
Ttn	T	A	2: 76,809,904	I13787F	probably damaging	Het
Uggt1	T	A	1: 36,156,313		probably null	Het
Ugt2b35	T	A	5: 87,008,130		probably benign	Het
Ugt2b36	C	A	5: 87,066,375	R470L	possibly damaging	Het
Unk	A	G	11: 116,053,109	D352G	possibly damaging	Het
Vmn2r77	G	T	7: 86,802,016	C370F	probably damaging	Het
Vmn2r85	A	G	10: 130,429,518	I32T	possibly damaging	Het
Zfp637	A	G	6: 117,845,444	I178V	possibly damaging	Het
Zfp943	A	G	17: 21,992,090		probably null	Het
Zyg11a	A	G	4: 108,210,042		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
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	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
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

Predicted Primers

PCR Primer
(F):5'- AGCCCAAACGTTCCTTAATCCTGTC -3'
(R):5'- TCTGAACTGACCTCCCAAGCTGAC -3'

Sequencing Primer
(F):5'- CTAGACCTCATAGAGCAAGCGTG -3'
(R):5'- ccacaaacacccttacccac -3'

Posted On

2013-10-16