Mutagenetix > Incidental Mutations

Incidental Mutation 'R6520:Iqck'

521127

Institutional Source

Beutler Lab

Gene Symbol

Iqck

Ensembl Gene

ENSMUSG00000073856

Gene Name

IQ motif containing K

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6520 (G1)

Quality Score

101.008

Status

Not validated

Chromosome

Chromosomal Location

118855752-118972652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118941631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 251 (K251M)

Ref Sequence

ENSEMBL: ENSMUSP00000095693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098087] [ENSMUST00000106547] [ENSMUST00000152136]

AlphaFold

D3YYL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000098087
AA Change: K251M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856
AA Change: K251M

Domain	Start	End	E-Value	Type
low complexity region	111	120	N/A	INTRINSIC
IQ	219	241	7.58e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106547
AA Change: K248M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856
AA Change: K248M

Domain	Start	End	E-Value	Type
low complexity region	108	117	N/A	INTRINSIC
IQ	216	238	7.58e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132148

Predicted Effect

probably benign
Transcript: ENSMUST00000152136

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037H04Rik	G	T	2: 131,147,254	H111N	probably damaging	Het
1700093K21Rik	T	C	11: 23,517,285	D116G	possibly damaging	Het
Adam22	C	T	5: 8,116,635	V699M	probably damaging	Het
Adh7	A	G	3: 138,224,010	Y149C	probably damaging	Het
Angptl3	A	C	4: 99,037,848	N405T	probably benign	Het
Ank3	A	G	10: 69,988,387	H180R	probably damaging	Het
Apob	T	A	12: 7,983,124	I159N	probably damaging	Het
Arhgap24	T	C	5: 102,880,793	V185A	probably benign	Het
Atf6	A	T	1: 170,867,669	H11Q	probably benign	Het
Atxn3	C	A	12: 101,934,401	D208Y	probably damaging	Het
Brd9	G	A	13: 73,942,794	R273K	probably benign	Het
Cbfa2t3	T	A	8: 122,635,801	R302W	probably benign	Het
Ccdc175	C	A	12: 72,140,030	G347C	probably damaging	Het
Ccdc87	A	G	19: 4,841,789	K770E	probably damaging	Het
Ccl17	T	C	8: 94,810,550	F27L	probably benign	Het
Cd3g	A	T	9: 44,971,315		probably null	Het
Cep350	A	G	1: 155,933,336	V498A	probably benign	Het
Cfap45	A	G	1: 172,540,584	D381G	probably damaging	Het
Cfap46	A	G	7: 139,614,405		probably null	Het
Cnrip1	T	A	11: 17,078,536	M156K	probably damaging	Het
Col23a1	T	C	11: 51,549,725		probably null	Het
Col4a1	C	T	8: 11,219,152	G933S	probably damaging	Het
Col5a3	C	T	9: 20,774,052	V1443I	unknown	Het
Col6a6	T	C	9: 105,785,825	E171G	possibly damaging	Het
Dennd1a	A	T	2: 37,961,747		probably null	Het
Dlk2	C	T	17: 46,302,512	T188I	probably damaging	Het
Dusp8	A	G	7: 142,083,681	I203T	probably damaging	Het
Eno2	C	T	6: 124,767,715	R56H	probably damaging	Het
Erich3	A	T	3: 154,763,465	T1185S	probably damaging	Het
Evi5l	A	T	8: 4,205,906	Q575L	possibly damaging	Het
Fam187a	T	A	11: 102,885,875	H168Q	possibly damaging	Het
Fat2	T	A	11: 55,284,988	E1633V	probably damaging	Het
Fbln2	G	A	6: 91,259,659	D719N	probably damaging	Het
Fbn2	A	T	18: 58,102,390	S672T	probably damaging	Het
Gas8	C	G	8: 123,526,474	A187G	probably benign	Het
Gm2696	G	A	10: 77,836,498		probably benign	Het
Gnl1	A	T	17: 35,982,953	K272M	probably benign	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Hemgn	T	G	4: 46,396,466	K257Q	probably damaging	Het
Hgsnat	T	C	8: 25,953,300	Y474C	probably damaging	Het
Hoxc4	T	C	15: 103,034,954	S78P	probably benign	Het
Igkv14-100	T	A	6: 68,519,234	L37Q	probably damaging	Het
Itgal	A	T	7: 127,330,331	Q1140L	probably benign	Het
Itpka	A	G	2: 119,750,778	R431G	probably benign	Het
Jade1	A	G	3: 41,604,482	N333D	possibly damaging	Het
Jmjd7	A	G	2: 120,031,319	H181R	probably damaging	Het
Jmy	A	G	13: 93,454,039	S519P	probably benign	Het
Klra10	T	A	6: 130,275,792	H173L	probably benign	Het
Krt72	T	G	15: 101,781,046	I284L	probably benign	Het
Krt78	C	A	15: 101,951,771	V237F	probably benign	Het
Mapkapk3	G	A	9: 107,257,449	T296M	probably damaging	Het
Mcmbp	A	C	7: 128,712,727	V255G	possibly damaging	Het
Mcoln1	T	G	8: 3,505,855	M50R	probably damaging	Het
Mocos	T	A	18: 24,666,390	V227E	probably benign	Het
Mpeg1	A	G	19: 12,461,958	E260G	probably benign	Het
Mrc1	A	T	2: 14,307,949	N894I	probably damaging	Het
Mroh7	A	G	4: 106,721,263	S73P	probably benign	Het
Myo3a	A	T	2: 22,399,926	I690L	possibly damaging	Het
Naa50	T	G	16: 44,159,509	F87V	probably damaging	Het
Ndufs6	G	T	13: 73,328,352	T32K	probably damaging	Het
Nfe2l2	A	G	2: 75,676,568	V396A	probably benign	Het
Nptn	A	G	9: 58,643,734	E348G	probably damaging	Het
Nsun4	A	T	4: 116,044,738	L177Q	probably damaging	Het
Olfr1083-ps	A	G	2: 86,607,118	L151P	unknown	Het
Olfr504	A	G	7: 108,564,839	*319Q	probably null	Het
Olfr974	T	C	9: 39,942,362	I34T	possibly damaging	Het
Plekha7	A	G	7: 116,164,482	V233A	probably benign	Het
Polq	C	A	16: 37,060,377	Q968K	possibly damaging	Het
Prmt7	C	T	8: 106,234,884	T143M	probably damaging	Het
Ptprc	G	A	1: 138,080,143	Q886*	probably null	Het
Rbp7	C	A	4: 149,452,914	V36L	possibly damaging	Het
Rev3l	A	T	10: 39,822,702	N1065I	probably benign	Het
Scamp5	A	T	9: 57,447,206		probably null	Het
Sec16a	A	G	2: 26,426,106	S1698P	probably damaging	Het
Spr	C	A	6: 85,137,492	R85L	probably benign	Het
Sptlc2	A	C	12: 87,355,662	N163K	probably benign	Het
Stk10	C	T	11: 32,588,839	T226M	probably damaging	Het
Sv2c	A	G	13: 95,986,721	Y415H	probably benign	Het
Tet1	A	G	10: 62,880,013	M1T	probably null	Het
Tnnt1	T	A	7: 4,509,061	K150*	probably null	Het
Trappc10	C	T	10: 78,201,453	V839M	probably benign	Het
Ubap2	T	C	4: 41,195,155	N1131S	probably damaging	Het
Upk2	T	C	9: 44,453,506	E132G	probably damaging	Het
Vmn2r117	A	T	17: 23,460,219	V677D	probably damaging	Het
Vps13a	A	T	19: 16,725,579	L670H	probably damaging	Het
Wwc1	C	T	11: 35,853,437	E853K	probably benign	Het
Zfp512	G	A	5: 31,466,640	R67H	probably damaging	Het
Zfp804b	T	A	5: 6,769,283	H1260L	probably damaging	Het
Zzef1	C	A	11: 72,826,065	N360K	probably damaging	Het

Other mutations in Iqck

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Iqck	APN	7	118877678	missense	probably damaging	1.00
IGL02810:Iqck	APN	7	118971439	missense	possibly damaging	0.94
IGL03403:Iqck	APN	7	118876271	missense	probably benign	0.21
R0541:Iqck	UTSW	7	118915594	missense	probably damaging	1.00
R0781:Iqck	UTSW	7	118899657	missense	possibly damaging	0.77
R0829:Iqck	UTSW	7	118899888	critical splice donor site	probably null
R0898:Iqck	UTSW	7	118971441	missense	probably damaging	0.99
R2273:Iqck	UTSW	7	118899657	missense	possibly damaging	0.77
R2274:Iqck	UTSW	7	118899657	missense	possibly damaging	0.77
R2275:Iqck	UTSW	7	118899657	missense	possibly damaging	0.77
R2509:Iqck	UTSW	7	118876282	missense	probably benign
R4033:Iqck	UTSW	7	118941604	missense	probably damaging	1.00
R6299:Iqck	UTSW	7	118876262	missense	unknown
R7095:Iqck	UTSW	7	118915591	missense	probably damaging	1.00
R7823:Iqck	UTSW	7	118872823	missense	probably damaging	1.00
R9038:Iqck	UTSW	7	118899658	missense	probably damaging	1.00
R9218:Iqck	UTSW	7	118941679	missense	probably damaging	0.98
Z1176:Iqck	UTSW	7	118941654	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- CCAGTGCTGCAAGAAAGAATTTTAC -3'
(R):5'- CAGTTGCTAAGCAGAACACTC -3'

Sequencing Primer
(F):5'- CAAGCTTACAGTACATCCAGTTG -3'
(R):5'- ACATGTGTGCACGTACATTCAC -3'

Posted On

2018-06-06