Mutagenetix > Incidental Mutation

Incidental Mutation 'R2156:Iqca1'

234778

Institutional Source

Beutler Lab

Gene Symbol

Iqca1

Ensembl Gene

ENSMUSG00000026301

Gene Name

IQ motif containing with AAA domain 1

Synonyms

4930465P12Rik, 4930585L22Rik, Iqca

MMRRC Submission

040159-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2156 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89969854-90081123 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90017238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 390 (L390P)

Ref Sequence

ENSEMBL: ENSMUSP00000108717 (fasta)

Gene Model

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

AlphaFold

Q9CUL5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113094
AA Change: L390P

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: L390P

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: ENSMUST00000186403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189690

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212394
AA Change: L399P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,313,134 (GRCm39)		probably null	Het
Acaa2	T	C	18: 74,926,476 (GRCm39)		probably null	Het
Adam7	T	C	14: 68,748,792 (GRCm39)	Q485R	probably benign	Het
Adcy4	T	G	14: 56,006,627 (GRCm39)	T1069P	probably benign	Het
Arsj	T	C	3: 126,232,337 (GRCm39)	L361P	probably damaging	Het
Birc2	A	C	9: 7,826,939 (GRCm39)	L349R	probably damaging	Het
C1qa	T	C	4: 136,623,727 (GRCm39)	Y159C	probably damaging	Het
Cdh13	A	G	8: 119,963,703 (GRCm39)	K428E	probably damaging	Het
Cenpe	T	C	3: 134,953,235 (GRCm39)	M1563T	probably benign	Het
Col10a1	T	C	10: 34,271,696 (GRCm39)	V556A	probably benign	Het
Creg2	G	A	1: 39,662,338 (GRCm39)	L265F	probably damaging	Het
Cyp1a2	T	A	9: 57,589,433 (GRCm39)	D127V	probably damaging	Het
Cyp3a44	A	T	5: 145,740,480 (GRCm39)	Y53*	probably null	Het
Cyth1	C	T	11: 118,073,634 (GRCm39)	R233Q	probably damaging	Het
Dnmbp	G	A	19: 43,890,346 (GRCm39)	H474Y	possibly damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ercc2	G	A	7: 19,120,717 (GRCm39)	R206H	possibly damaging	Het
Evx2	T	A	2: 74,486,360 (GRCm39)	H343L	probably damaging	Het
Fcrl2	T	A	3: 87,164,648 (GRCm39)	I293F	probably benign	Het
Gcnt4	A	G	13: 97,082,974 (GRCm39)	E90G	probably damaging	Het
Gid8	T	G	2: 180,358,751 (GRCm39)	C139G	probably benign	Het
Gm11938	C	A	11: 99,493,933 (GRCm39)	C54F	probably damaging	Het
Gm3336	G	A	8: 71,174,509 (GRCm39)	V158I	probably benign	Het
Gucy1b1	T	C	3: 81,968,327 (GRCm39)	N60D	probably benign	Het
Hdac7	T	C	15: 97,691,944 (GRCm39)	K810E	probably benign	Het
Hsp90ab1	A	G	17: 45,880,629 (GRCm39)	F361L	possibly damaging	Het
Igf2bp3	A	T	6: 49,085,858 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,775,118 (GRCm39)	I772N	probably damaging	Het
Itgb2	C	T	10: 77,396,082 (GRCm39)	R586W	probably benign	Het
Itih1	A	G	14: 30,655,432 (GRCm39)	S588P	possibly damaging	Het
Iyd	T	A	10: 3,497,166 (GRCm39)		probably null	Het
Kl	A	G	5: 150,912,425 (GRCm39)	K725E	probably benign	Het
Layn	T	A	9: 50,968,697 (GRCm39)	M349L	probably benign	Het
Map3k5	T	C	10: 19,900,683 (GRCm39)	Y286H	probably damaging	Het
Med4	C	T	14: 73,755,472 (GRCm39)		probably benign	Het
Mfn1	T	A	3: 32,588,400 (GRCm39)	N42K	possibly damaging	Het
Mindy2	T	C	9: 70,563,874 (GRCm39)	D152G	probably benign	Het
Mrc2	A	G	11: 105,238,682 (GRCm39)		probably null	Het
Mrpl11	C	A	19: 5,012,497 (GRCm39)	A26E	probably damaging	Het
Msh6	G	A	17: 88,293,568 (GRCm39)	W774*	probably null	Het
Mtch1	A	T	17: 29,561,841 (GRCm39)	V121E	probably damaging	Het
Mtg2	G	T	2: 179,725,923 (GRCm39)	E178*	probably null	Het
Nbas	A	T	12: 13,491,510 (GRCm39)	N1461Y	probably damaging	Het
Ndfip2	A	G	14: 105,525,204 (GRCm39)	T65A	probably benign	Het
Ninl	G	T	2: 150,786,503 (GRCm39)	Q1146K	probably damaging	Het
Notch1	T	C	2: 26,350,873 (GRCm39)	D2089G	possibly damaging	Het
Notch3	C	T	17: 32,366,818 (GRCm39)	V906M	probably damaging	Het
Or51l14	A	G	7: 103,101,371 (GRCm39)	I276V	probably benign	Het
Or6b6	A	G	7: 106,570,775 (GRCm39)	Y259H	probably damaging	Het
Osmr	A	T	15: 6,873,891 (GRCm39)	Y169N	probably benign	Het
Ovgp1	T	C	3: 105,885,033 (GRCm39)	V124A	possibly damaging	Het
P2rx1	T	C	11: 72,904,939 (GRCm39)	M369T	probably benign	Het
Pde4dip	T	C	3: 97,631,534 (GRCm39)	Q1125R	probably damaging	Het
Podn	A	T	4: 107,878,892 (GRCm39)	V180E	probably damaging	Het
Pold1	A	T	7: 44,188,542 (GRCm39)	V475E	probably damaging	Het
Polg	A	G	7: 79,111,468 (GRCm39)	I261T	possibly damaging	Het
Satb1	G	T	17: 52,047,438 (GRCm39)	Q595K	probably benign	Het
Scaf8	T	A	17: 3,214,407 (GRCm39)		probably null	Het
Semp2l1	T	A	1: 32,585,128 (GRCm39)	M261L	probably benign	Het
Serpinb3a	C	T	1: 106,975,202 (GRCm39)		probably null	Het
Slc22a26	T	C	19: 7,779,480 (GRCm39)	D112G	probably damaging	Het
Slc25a23	A	G	17: 57,352,562 (GRCm39)	F441L	probably benign	Het
Slc25a53	T	C	X: 135,884,216 (GRCm39)	T42A	probably damaging	Het
Slc6a15	T	C	10: 103,229,269 (GRCm39)	Y103H	probably damaging	Het
Slx4	A	G	16: 3,804,223 (GRCm39)	S864P	probably benign	Het
Snap91	T	C	9: 86,707,130 (GRCm39)	E220G	probably damaging	Het
Spam1	T	C	6: 24,796,267 (GRCm39)	F73L	probably damaging	Het
Sphkap	C	T	1: 83,255,710 (GRCm39)	V393M	probably benign	Het
Spred2	T	C	11: 19,971,241 (GRCm39)	Y370H	probably damaging	Het
Sqle	T	C	15: 59,195,578 (GRCm39)		probably null	Het
Srrm2	A	G	17: 24,037,237 (GRCm39)	T1390A	probably benign	Het
Tas1r2	A	G	4: 139,396,352 (GRCm39)	R564G	possibly damaging	Het
Tbl2	G	T	5: 135,185,374 (GRCm39)		probably null	Het
Tcof1	T	C	18: 60,964,901 (GRCm39)	D606G	possibly damaging	Het
Tdpoz3	T	A	3: 93,734,087 (GRCm39)	L254H	probably damaging	Het
Trpm1	A	T	7: 63,884,736 (GRCm39)	I806F	probably damaging	Het
Ttc22	A	G	4: 106,496,237 (GRCm39)	D429G	probably benign	Het
Ube2o	C	A	11: 116,471,972 (GRCm39)	G90C	probably damaging	Het
Usp34	T	A	11: 23,332,602 (GRCm39)	F1110I	probably damaging	Het
Vmn2r82	T	C	10: 79,214,722 (GRCm39)	L235P	probably damaging	Het
Vps35	A	G	8: 86,013,129 (GRCm39)	V116A	probably benign	Het
Wdfy3	A	G	5: 102,046,291 (GRCm39)		probably null	Het
Zeb2	T	C	2: 44,878,821 (GRCm39)	K1138E	probably benign	Het
Zfp513	G	A	5: 31,357,866 (GRCm39)	T169I	probably benign	Het
Zfp629	T	C	7: 127,211,551 (GRCm39)	D86G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTTTCTGCTGGATATACACAACAC -3'
(R):5'- TCAGTAGCCTGGCCATTCATG -3'

Sequencing Primer
(F):5'- ACAGTTCAAACCATGCTTGTC -3'
(R):5'- CATGCTCGGATCACTAGCAAGG -3'

Posted On

2014-10-01