Mutagenetix > Incidental Mutations

Incidental Mutation 'R0898:Iqck'

83751

Institutional Source

Beutler Lab

Gene Symbol

Iqck

Ensembl Gene

ENSMUSG00000073856

Gene Name

IQ motif containing K

Synonyms

MMRRC Submission

039058-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0898 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

118855752-118972652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118971441 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 272 (C272Y)

Ref Sequence

ENSEMBL: ENSMUSP00000102157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008878] [ENSMUST00000098087] [ENSMUST00000106547] [ENSMUST00000152136] [ENSMUST00000208394]

AlphaFold

D3YYL3

Predicted Effect

probably benign
Transcript: ENSMUST00000008878

SMART Domains

Protein: ENSMUSP00000008878
Gene: ENSMUSG00000008734

Domain	Start	End	E-Value	Type
Pfam:7tm_3	67	294	2e-33	PFAM
low complexity region	360	371	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098087
AA Change: C275Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856
AA Change: C275Y

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: C272Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856
AA Change: C272Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208287

Predicted Effect

probably benign
Transcript: ENSMUST00000208394

Meta Mutation Damage Score

0.0919

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.4%

Validation Efficiency

98% (42/43)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	T	A	1: 134,424,076		probably null	Het
Apmap	A	G	2: 150,585,749		probably benign	Het
Arhgap11a	T	C	2: 113,836,876	N442S	probably benign	Het
Bpifb5	C	T	2: 154,233,334	A394V	probably benign	Het
Brpf3	A	G	17: 28,806,990	T346A	possibly damaging	Het
Ccdc154	A	G	17: 25,164,081		probably benign	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Col3a1	T	C	1: 45,333,993		probably benign	Het
Cpm	A	C	10: 117,676,106		probably benign	Het
Crlf2	G	C	5: 109,557,138	P67R	probably damaging	Het
Ddx59	T	C	1: 136,416,941	Y117H	probably damaging	Het
Fam241b	A	G	10: 62,108,994	F98L	probably damaging	Het
Fmn2	G	A	1: 174,503,460	G472E	unknown	Het
Gcdh	T	C	8: 84,893,560	H41R	possibly damaging	Het
Gm7713	A	C	15: 59,994,441		noncoding transcript	Het
Gmeb1	T	C	4: 132,234,782	T189A	probably benign	Het
Kcnn2	T	C	18: 45,559,476	C40R	possibly damaging	Het
Map3k1	T	C	13: 111,767,956		probably benign	Het
Nabp1	T	C	1: 51,471,337	I169V	probably benign	Het
Olfr761	T	C	17: 37,952,236	T263A	probably benign	Het
Olfr898	G	A	9: 38,349,442	V120M	probably damaging	Het
Pfkm	A	G	15: 98,128,230	I569V	probably benign	Het
Plcb1	A	T	2: 135,387,143	T1096S	possibly damaging	Het
Plscr4	A	C	9: 92,484,753	D140A	probably damaging	Het
Plxna2	A	G	1: 194,797,024	D1331G	probably damaging	Het
Ppfia4	T	C	1: 134,321,126	T498A	probably benign	Het
Prkar2b	A	T	12: 31,963,002	L372I	possibly damaging	Het
Rslcan18	T	C	13: 67,098,816	N120S	probably benign	Het
Sbf2	C	T	7: 110,371,652	V846I	possibly damaging	Het
Slc16a7	A	G	10: 125,233,501	I102T	possibly damaging	Het
Slc1a4	T	C	11: 20,304,349	T506A	probably damaging	Het
Slc22a7	T	C	17: 46,433,149	T462A	probably damaging	Het
Sox11	T	C	12: 27,341,225	Y395C	probably damaging	Het
Taf2	T	C	15: 55,060,084	T266A	probably damaging	Het
Tanc1	C	T	2: 59,790,788	T317I	probably damaging	Het
Tnxb	T	C	17: 34,670,745	S71P	probably damaging	Het
Tpgs2	G	A	18: 25,149,150	P115S	probably damaging	Het
Trmt10a	C	T	3: 138,149,518	P139L	probably damaging	Het
Zfp113	T	C	5: 138,144,789	S400G	probably benign	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
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'- GCCAGGCAATAGATCAGGGTGAATC -3'
(R):5'- TGGCTTCTCGGCAACAAATCCCTC -3'

Sequencing Primer
(F):5'- gtgtgtgtgtgggtggg -3'
(R):5'- CCTCACGTTCAAAGGGTTCTG -3'

Posted On

2013-11-08