Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02098:Iqca1'

279667

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 #

IGL02098

Quality Score

Status

Chromosome

Chromosomal Location

89969854-90081123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89975663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 684 (Y684C)

Ref Sequence

ENSEMBL: ENSMUSP00000148643 (fasta)

Gene Model

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

AlphaFold

Q9CUL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000113094
AA Change: Y661C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: Y661C

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 damaging
Transcript: ENSMUST00000212394
AA Change: Y684C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	C	T	8: 41,208,680 (GRCm39)	P649S	probably benign	Het
Ano3	T	A	2: 110,496,786 (GRCm39)	R788*	probably null	Het
Ccdc18	A	G	5: 108,349,977 (GRCm39)	E1043G	probably damaging	Het
Chd3	A	T	11: 69,250,655 (GRCm39)	H691Q	probably damaging	Het
Cts7	G	T	13: 61,504,343 (GRCm39)	F73L	probably damaging	Het
Cyp2c66	A	G	19: 39,159,473 (GRCm39)	Y308C	probably damaging	Het
Eef1a2	G	T	2: 180,794,582 (GRCm39)	P206T	probably benign	Het
Gcsh	G	T	8: 117,715,875 (GRCm39)	S69R	probably damaging	Het
Gm9989	T	A	3: 81,829,528 (GRCm39)		noncoding transcript	Het
Igkv6-25	C	T	6: 70,192,719 (GRCm39)	T42I	probably damaging	Het
Kif6	G	A	17: 50,177,922 (GRCm39)	G602D	probably benign	Het
Klb	C	A	5: 65,537,228 (GRCm39)	R853S	probably benign	Het
Mad1l1	A	C	5: 140,296,344 (GRCm39)		probably benign	Het
Magi1	T	C	6: 93,655,768 (GRCm39)	N1077D	probably damaging	Het
Med12l	T	A	3: 59,183,276 (GRCm39)	S1858T	possibly damaging	Het
Ncapg2	A	G	12: 116,407,952 (GRCm39)	E984G	possibly damaging	Het
Necab1	T	A	4: 14,955,892 (GRCm39)		probably benign	Het
Nexn	G	A	3: 151,949,540 (GRCm39)	R253*	probably null	Het
Npc1l1	A	G	11: 6,164,581 (GRCm39)	L1156P	probably damaging	Het
Or2y1	T	A	11: 49,386,224 (GRCm39)	I288N	probably damaging	Het
Or5ac15	A	T	16: 58,940,433 (GRCm39)		probably benign	Het
Or5b99	A	G	19: 12,976,937 (GRCm39)	I196V	probably benign	Het
Or8g17	A	G	9: 38,930,187 (GRCm39)	S217P	probably damaging	Het
Pramel25	T	A	4: 143,520,248 (GRCm39)		probably null	Het
Rassf7	T	C	7: 140,798,203 (GRCm39)	S381P	possibly damaging	Het
Rdh7	G	T	10: 127,720,607 (GRCm39)	T255K	probably benign	Het
Scn10a	T	A	9: 119,520,544 (GRCm39)	I119F	possibly damaging	Het
Slc15a3	T	A	19: 10,826,042 (GRCm39)	F244L	probably damaging	Het
Syde1	T	C	10: 78,425,205 (GRCm39)	S269G	probably damaging	Het
Teddm2	C	T	1: 153,726,081 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,729,611 (GRCm39)	D1465G	possibly damaging	Het
Zkscan2	A	T	7: 123,099,064 (GRCm39)	S43T	probably benign	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
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
IGL03259:Iqca1	APN	1	89,980,156 (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

2015-04-16