Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03259:Iqca1'

414753

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqca1

Ensembl Gene

ENSMUSG00000026301

Gene Name

IQ motif containing with AAA domain 1

Synonyms

4930465P12Rik, 4930585L22Rik, Iqca

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03259

Quality Score

Status

Chromosome

Chromosomal Location

89969854-90081123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89980156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 637 (D637G)

Ref Sequence

ENSEMBL: ENSMUSP00000108717 (fasta)

Gene Model

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

AlphaFold

Q9CUL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000113094
AA Change: D637G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: D637G

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: D660G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	T	C	5: 67,781,349 (GRCm39)		probably null	Het
Btbd3	T	C	2: 138,121,680 (GRCm39)	M121T	probably damaging	Het
Cep192	A	T	18: 67,953,483 (GRCm39)	N500I	probably damaging	Het
Clca4a	A	G	3: 144,663,841 (GRCm39)	L534P	probably damaging	Het
Cyp2d11	C	T	15: 82,274,221 (GRCm39)	V387M	probably damaging	Het
Dlgap3	T	C	4: 127,094,077 (GRCm39)	I443T	probably benign	Het
Heatr5b	T	A	17: 79,098,985 (GRCm39)	D1305V	probably damaging	Het
Hps5	G	T	7: 46,412,526 (GRCm39)	P1021Q	probably damaging	Het
Kank1	A	G	19: 25,407,705 (GRCm39)	D1233G	probably damaging	Het
Lad1	A	T	1: 135,755,394 (GRCm39)	R223S	probably benign	Het
Ms4a13	A	G	19: 11,161,210 (GRCm39)	S110P	probably damaging	Het
Nmd3	T	A	3: 69,652,576 (GRCm39)	D387E	possibly damaging	Het
Or1m1	A	G	9: 18,666,811 (GRCm39)	V40A	probably benign	Het
Or7a41	C	A	10: 78,871,234 (GRCm39)	Y201*	probably null	Het
Or8k3b	G	T	2: 86,520,894 (GRCm39)	Q142K	probably benign	Het
Pcgf5	T	A	19: 36,433,059 (GRCm39)	D234E	probably benign	Het
Pcnx2	T	A	8: 126,480,388 (GRCm39)	H1973L	probably benign	Het
Peak1	A	G	9: 56,167,251 (GRCm39)	F226L	probably damaging	Het
Pgp	A	G	17: 24,690,022 (GRCm39)	K180R	probably damaging	Het
Sdk1	A	T	5: 141,938,788 (GRCm39)	K404*	probably null	Het
Serinc5	T	A	13: 92,827,500 (GRCm39)	V272D	probably damaging	Het
Slc4a5	A	G	6: 83,247,979 (GRCm39)	H395R	probably damaging	Het
Spice1	T	A	16: 44,176,530 (GRCm39)	V40D	probably damaging	Het
Syne2	A	G	12: 76,035,853 (GRCm39)	I3713M	probably benign	Het
Vmn1r58	A	T	7: 5,414,086 (GRCm39)	L48*	probably null	Het
Vwa7	A	G	17: 35,239,002 (GRCm39)		probably null	Het

Other mutations in Iqca1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Iqca1	APN	1	89,973,379 (GRCm39)	missense	probably benign	0.10
IGL01367:Iqca1	APN	1	89,998,350 (GRCm39)	splice site	probably benign
IGL01545:Iqca1	APN	1	89,973,364 (GRCm39)	missense	probably benign
IGL01797:Iqca1	APN	1	90,072,541 (GRCm39)	critical splice donor site	probably null
IGL02098:Iqca1	APN	1	89,975,663 (GRCm39)	missense	probably damaging	0.96
IGL02194:Iqca1	APN	1	89,973,385 (GRCm39)	missense	probably benign	0.16
IGL03230:Iqca1	APN	1	90,072,724 (GRCm39)	missense	probably damaging	1.00
IGL03372:Iqca1	APN	1	90,072,691 (GRCm39)	missense	possibly damaging	0.80
R0383:Iqca1	UTSW	1	90,070,429 (GRCm39)	missense	probably damaging	1.00
R0610:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0685:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0798:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0799:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0800:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0801:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0825:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0826:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0827:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0862:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0863:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0864:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0960:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0961:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0962:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R0963:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R1101:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R1344:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R1523:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R1646:Iqca1	UTSW	1	90,067,760 (GRCm39)	missense	probably damaging	0.98
R1682:Iqca1	UTSW	1	90,070,453 (GRCm39)	missense	probably null	0.97
R1742:Iqca1	UTSW	1	90,025,773 (GRCm39)	missense	probably benign	0.01
R1774:Iqca1	UTSW	1	90,008,625 (GRCm39)	missense	probably benign	0.02
R1775:Iqca1	UTSW	1	90,009,138 (GRCm39)	missense	probably damaging	1.00
R2011:Iqca1	UTSW	1	89,973,348 (GRCm39)	missense	probably benign	0.00
R2065:Iqca1	UTSW	1	90,057,953 (GRCm39)	missense	probably benign	0.01
R2156:Iqca1	UTSW	1	90,017,238 (GRCm39)	missense	possibly damaging	0.78
R2186:Iqca1	UTSW	1	90,009,066 (GRCm39)	missense	probably benign	0.06
R3872:Iqca1	UTSW	1	90,017,203 (GRCm39)	missense	probably damaging	1.00
R4308:Iqca1	UTSW	1	90,072,619 (GRCm39)	missense	probably damaging	1.00
R4578:Iqca1	UTSW	1	90,001,472 (GRCm39)	missense	probably damaging	0.98
R4737:Iqca1	UTSW	1	90,005,544 (GRCm39)	missense	probably damaging	0.99
R4867:Iqca1	UTSW	1	90,017,226 (GRCm39)	missense	probably benign	0.00
R4884:Iqca1	UTSW	1	90,067,759 (GRCm39)	missense	probably benign	0.10
R4887:Iqca1	UTSW	1	89,973,423 (GRCm39)	missense	probably damaging	1.00
R5352:Iqca1	UTSW	1	90,057,918 (GRCm39)	missense	probably benign	0.00
R5733:Iqca1	UTSW	1	89,998,257 (GRCm39)	missense	probably damaging	0.97
R5838:Iqca1	UTSW	1	90,072,667 (GRCm39)	missense	probably benign	0.22
R5951:Iqca1	UTSW	1	90,067,819 (GRCm39)	splice site	probably null
R5957:Iqca1	UTSW	1	90,008,670 (GRCm39)	missense	probably damaging	1.00
R6696:Iqca1	UTSW	1	90,057,922 (GRCm39)	missense	probably benign
R7240:Iqca1	UTSW	1	89,998,272 (GRCm39)	missense	possibly damaging	0.88
R7769:Iqca1	UTSW	1	90,005,532 (GRCm39)	missense	possibly damaging	0.82
R7841:Iqca1	UTSW	1	89,987,337 (GRCm39)	missense
R8069:Iqca1	UTSW	1	89,973,466 (GRCm39)	missense	probably damaging	0.96
R8103:Iqca1	UTSW	1	89,987,330 (GRCm39)	missense
R8932:Iqca1	UTSW	1	90,067,750 (GRCm39)	missense	probably damaging	1.00
R8963:Iqca1	UTSW	1	90,067,649 (GRCm39)	missense	probably benign	0.02
R9055:Iqca1	UTSW	1	89,998,335 (GRCm39)	missense	probably benign	0.02
R9168:Iqca1	UTSW	1	90,065,937 (GRCm39)	missense	probably damaging	0.98
R9342:Iqca1	UTSW	1	90,072,688 (GRCm39)	missense	probably damaging	0.99
R9647:Iqca1	UTSW	1	89,998,258 (GRCm39)	missense	probably benign	0.15
Z1176:Iqca1	UTSW	1	89,973,447 (GRCm39)	missense	probably benign	0.26

Posted On

2016-08-02