Mutagenetix > Incidental Mutations

Incidental Mutation 'R0781:Iqck'

76628

Institutional Source

Beutler Lab

Gene Symbol

Iqck

Ensembl Gene

ENSMUSG00000073856

Gene Name

IQ motif containing K

Synonyms

MMRRC Submission

038961-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0781 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

118855752-118972652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118899657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 173 (D173N)

Ref Sequence

ENSEMBL: ENSMUSP00000095693 (fasta)

Gene Model

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

AlphaFold

D3YYL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098087
AA Change: D173N

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856
AA Change: D173N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106547
AA Change: D170N

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856
AA Change: D170N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153518

Meta Mutation Damage Score

0.0856

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.2%

Validation Efficiency

97% (67/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	T	17: 79,627,751	A98S	probably benign	Het
Acp2	A	G	2: 91,208,422		probably null	Het
Akap13	T	G	7: 75,611,377	S447A	possibly damaging	Het
Alk	G	A	17: 71,984,745		probably benign	Het
Ankrd55	A	G	13: 112,381,233		probably benign	Het
Arhgef39	T	C	4: 43,496,834	T327A	probably benign	Het
Cdan1	G	A	2: 120,720,602	A1103V	probably damaging	Het
Cdk17	T	A	10: 93,239,033	Y3*	probably null	Het
Cdon	T	C	9: 35,456,437		probably benign	Het
Cntn3	T	A	6: 102,245,158	N460I	probably benign	Het
Cntrl	T	A	2: 35,160,627	C985S	possibly damaging	Het
Col6a2	T	C	10: 76,607,740	E497G	probably benign	Het
Crybg1	A	G	10: 43,999,093	M673T	possibly damaging	Het
Csmd1	A	C	8: 15,921,174	I3047S	probably benign	Het
Cyp2u1	A	G	3: 131,293,609	I441T	possibly damaging	Het
Disp2	T	C	2: 118,790,439	S551P	probably damaging	Het
Dstyk	A	G	1: 132,453,325		probably benign	Het
Fam26e	T	G	10: 34,096,017	I141L	probably benign	Het
Frem1	T	C	4: 82,950,320	S1457G	probably damaging	Het
Gabbr2	C	T	4: 46,718,838	C613Y	probably damaging	Het
Gdf7	C	A	12: 8,301,555		probably benign	Het
Gm906	A	T	13: 50,248,260	D83E	possibly damaging	Het
Hnrnpul2	A	G	19: 8,826,746	R570G	probably damaging	Het
Iqcf4	T	C	9: 106,568,661	I96V	probably benign	Het
Itpr3	C	T	17: 27,110,555	H1518Y	probably benign	Het
Kdm5d	T	A	Y: 910,539	L250H	probably damaging	Het
Kntc1	C	T	5: 123,799,902		probably benign	Het
Lmtk3	T	A	7: 45,795,003		probably benign	Het
Lpin3	A	G	2: 160,894,079	D93G	probably benign	Het
Ncoa6	A	T	2: 155,411,520		probably benign	Het
Nudt7	G	A	8: 114,135,371		probably benign	Het
Nup160	A	G	2: 90,733,219		probably benign	Het
Oit3	G	A	10: 59,428,194	R373C	probably damaging	Het
Olfml2a	A	T	2: 38,959,753	I494L	probably damaging	Het
Olfr194	A	T	16: 59,119,824	V82D	probably damaging	Het
Olfr78	A	G	7: 102,743,007		probably benign	Het
Olfr824	A	G	10: 130,126,653	Y135H	probably damaging	Het
Opa3	A	G	7: 19,228,599		probably benign	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 143,743,893		probably benign	Het
Parp6	G	T	9: 59,649,564	C584F	probably damaging	Het
Pcgf2	A	G	11: 97,691,850		probably benign	Het
Pde3a	T	C	6: 141,459,316		probably benign	Het
Pitrm1	A	G	13: 6,558,244	D335G	probably benign	Het
Pkhd1	A	T	1: 20,117,484	N3533K	probably benign	Het
Pkp4	T	C	2: 59,338,765	L752P	probably damaging	Het
Plcb3	C	A	19: 6,961,913	E566*	probably null	Het
Ppef2	T	C	5: 92,244,830	K261R	probably benign	Het
Prdm14	A	G	1: 13,114,361	S529P	probably damaging	Het
Prune2	T	C	19: 17,125,222	S2582P	probably benign	Het
Sardh	G	A	2: 27,191,919	T865I	possibly damaging	Het
Slc26a3	A	T	12: 31,465,813	I571F	possibly damaging	Het
Slc5a5	A	T	8: 70,890,220	M232K	probably benign	Het
Slc9a1	T	A	4: 133,370,548	M2K	probably benign	Het
Ss18l1	G	A	2: 180,055,854	S177N	possibly damaging	Het
Svs5	A	T	2: 164,333,587	I120L	probably benign	Het
Tcl1b1	G	T	12: 105,159,815	V19F	probably damaging	Het
Tmem108	C	T	9: 103,484,690	V566M	probably damaging	Het
Trmu	C	A	15: 85,879,403	C9*	probably null	Het
Ttc30a1	A	T	2: 75,979,976	C588S	probably damaging	Het
Vnn1	A	T	10: 23,899,601	I250F	possibly damaging	Het
Vps13c	T	A	9: 67,972,003	Y3409N	probably damaging	Het
Xrn1	T	A	9: 95,991,269	N695K	probably benign	Het
Zfp84	T	A	7: 29,771,372	M1K	probably null	Het
Zfyve26	G	A	12: 79,280,067	R761C	probably damaging	Het
Zp3r	A	G	1: 130,577,884		probably null	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
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
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'- AGTCAGCCTCGTAAGGCACAGAAC -3'
(R):5'- TCCTTGAGCCAGTCTTCCACAAATG -3'

Sequencing Primer
(F):5'- GTAATAAACACCTGCTAGGTGC -3'
(R):5'- CAGTCTTCCACAAATGGAATGG -3'

Posted On

2013-10-16