Mutagenetix > Incidental Mutations

Incidental Mutation 'R6299:Iqck'

531263

Institutional Source

Beutler Lab

Gene Symbol

Iqck

Ensembl Gene

ENSMUSG00000073856

Gene Name

IQ motif containing K

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118855752-118972652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118876262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 70 (G70S)

Ref Sequence

ENSEMBL: ENSMUSP00000118456 (fasta)

Gene Model

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

AlphaFold

D3YYL3

Predicted Effect

silent
Transcript: ENSMUST00000098087

SMART Domains

Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856

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

Predicted Effect

silent
Transcript: ENSMUST00000106547

SMART Domains

Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856

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

Predicted Effect

unknown
Transcript: ENSMUST00000152136
AA Change: G70S

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bms1	G	A	6: 118,418,515	R24W	probably damaging	Het
C130050O18Rik	A	T	5: 139,414,371	S60C	probably damaging	Het
Cabcoco1	A	G	10: 68,436,890	Y222H	probably damaging	Het
Cc2d1b	T	C	4: 108,628,138	V559A	probably benign	Het
Cgrrf1	T	A	14: 46,840,190	N46K	probably damaging	Het
Clca3a1	T	C	3: 144,758,514	D114G	probably damaging	Het
Clcnkb	T	A	4: 141,410,723	L279F	probably damaging	Het
Cr2	T	C	1: 195,168,646	T151A	probably damaging	Het
Creb3l3	C	T	10: 81,088,613	E236K	probably damaging	Het
Dcstamp	T	A	15: 39,755,203	V336D	probably damaging	Het
Dopey1	T	G	9: 86,504,212	F379V	probably damaging	Het
Esf1	T	C	2: 140,123,634	K714R	possibly damaging	Het
Exoc3l4	A	T	12: 111,422,079	M1L	possibly damaging	Het
Extl3	T	C	14: 65,076,672	R354G	probably benign	Het
Fastkd3	T	C	13: 68,587,736	L535P	probably damaging	Het
Gab2	A	G	7: 97,081,859	T12A	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Golga4	T	A	9: 118,557,370	S1187T	probably benign	Het
Haus3	A	G	5: 34,167,796	V173A	probably benign	Het
Herc2	T	A	7: 56,135,055	Y1416N	possibly damaging	Het
Hspg2	A	G	4: 137,544,705	Y2566C	probably damaging	Het
Inpp5f	A	T	7: 128,636,160	T34S	possibly damaging	Het
Jade1	T	C	3: 41,613,725	F743L	probably damaging	Het
Kif5a	T	C	10: 127,233,821	K845R	probably damaging	Het
Klhl30	A	G	1: 91,357,914		probably null	Het
Map2k1	T	C	9: 64,214,490	D67G	possibly damaging	Het
Mcm9	A	C	10: 53,537,681	C434W	probably damaging	Het
Muc4	T	G	16: 32,752,035	S638A	possibly damaging	Het
Nectin3	A	G	16: 46,463,982	V113A	probably damaging	Het
Nfya	T	C	17: 48,392,910		probably benign	Het
Nup155	G	T	15: 8,128,438	A460S	possibly damaging	Het
Nup210	T	C	6: 91,074,288	E371G	possibly damaging	Het
Olfm3	T	C	3: 115,120,983	S228P	probably damaging	Het
Olfr659	C	A	7: 104,670,868	D55E	probably benign	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Plin1	A	C	7: 79,721,476	V500G	probably benign	Het
Ppfia1	A	C	7: 144,510,312	M513R	probably benign	Het
Ppp1cb	T	A	5: 32,483,454	C27*	probably null	Het
Prss22	T	A	17: 23,996,434	I123F	probably damaging	Het
Rbm24	G	T	13: 46,419,073	V15L	probably damaging	Het
Reln	T	C	5: 22,286,944	T97A	possibly damaging	Het
Sipa1l2	T	C	8: 125,453,464	T1065A	possibly damaging	Het
Sipa1l3	A	C	7: 29,366,549		probably null	Het
Snrnp200	T	A	2: 127,222,161	Y689*	probably null	Het
Srcap	T	C	7: 127,530,454		probably benign	Het
Sv2a	T	C	3: 96,188,249		probably null	Het
Tcf12	A	T	9: 71,858,929	V474D	probably damaging	Het
Tpcn2	A	T	7: 145,262,243	S403T	probably damaging	Het
Trim65	C	A	11: 116,126,551	A362S	probably benign	Het
Trmt1	T	A	8: 84,697,290	C36*	probably null	Het
Trpm8	T	A	1: 88,354,479	L699Q	probably damaging	Het
Ube2m	A	C	7: 13,035,870	I116R	probably damaging	Het
Ulk1	T	C	5: 110,791,097	K492E	possibly damaging	Het
Usp40	T	A	1: 87,997,927	K193N	probably damaging	Het
Vmn1r3	A	G	4: 3,185,098	S70P	possibly damaging	Het
Vmn2r2	T	A	3: 64,116,653	K836*	probably null	Het
Vmn2r75	T	A	7: 86,165,274	H337L	probably benign	Het
Wars	G	A	12: 108,861,383	T437M	probably benign	Het
Zdhhc5	T	C	2: 84,690,481	T451A	probably benign	Het
Zfp788	T	G	7: 41,648,541	H180Q	possibly damaging	Het
Zkscan7	A	G	9: 122,888,717	E59G	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
R6520:Iqck	UTSW	7	118941631	missense	probably damaging	1.00
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'- CAGAATGTTCCTCAACCTGTCC -3'
(R):5'- AACACAGACTACTACGTGGTC -3'

Sequencing Primer
(F):5'- CAGACTGATCTCTGAGTTCAAGGC -3'
(R):5'- GACGTGTCTGACCCTCAC -3'

Posted On

2018-08-21