Mutagenetix > Incidental Mutations

Incidental Mutation 'R0541:Iqck'

49909

Institutional Source

Beutler Lab

Gene Symbol

Iqck

Ensembl Gene

ENSMUSG00000073856

Gene Name

IQ motif containing K

Synonyms

MMRRC Submission

038733-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118855752-118972652 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118915594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 232 (L232Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102157 (fasta)

Gene Model

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

AlphaFold

D3YYL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000098087
AA Change: L235Q

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

SMART Domains

Protein: ENSMUSP00000095693
Gene: ENSMUSG00000073856
AA Change: L235Q

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: L232Q

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

SMART Domains

Protein: ENSMUSP00000102157
Gene: ENSMUSG00000073856
AA Change: L232Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

96% (64/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 131,139,143	M115V	probably benign	Het
4933415A04Rik	TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	11: 43,587,400		probably null	Het
Abca7	C	T	10: 80,007,351	A1220V	probably benign	Het
Adamts19	G	A	18: 58,927,300		probably null	Het
Agbl1	G	A	7: 76,409,245	V194M	probably benign	Het
Arhgap20	G	T	9: 51,849,663	S902I	probably damaging	Het
Atp11b	T	G	3: 35,806,944	D193E	probably damaging	Het
B3gntl1	A	T	11: 121,644,604		probably benign	Het
C2cd2	T	C	16: 97,922,296	E7G	possibly damaging	Het
Camta2	A	G	11: 70,681,621	L259P	probably benign	Het
Ccni	T	C	5: 93,187,704	N192D	probably benign	Het
Cgnl1	A	G	9: 71,651,253	I946T	possibly damaging	Het
Chil3	T	C	3: 106,161,232		probably null	Het
Cntn5	A	G	9: 9,673,402		probably benign	Het
Cpn2	C	T	16: 30,259,351	G511S	possibly damaging	Het
Dagla	C	A	19: 10,254,806		probably null	Het
Dcc	T	C	18: 71,259,015	N1440S	probably damaging	Het
Drosha	T	A	15: 12,907,388	N1069K	probably benign	Het
Edc4	A	G	8: 105,889,428	T812A	probably benign	Het
Eml4	A	G	17: 83,440,042	I238V	probably benign	Het
Ep400	T	C	5: 110,705,016	T1288A	unknown	Het
Fastkd1	A	C	2: 69,702,406	L539R	probably damaging	Het
Fbln7	G	A	2: 128,877,534		probably benign	Het
Fbxo39	A	G	11: 72,318,471	I386V	probably benign	Het
Gm17430	T	C	18: 9,726,267	K135R	probably damaging	Het
Gm3646	T	A	1: 39,804,323	T8S	unknown	Het
Gtsf1	A	T	15: 103,421,192	V100E	possibly damaging	Het
Helz2	A	G	2: 181,234,825	F1292S	possibly damaging	Het
Igf2bp3	G	A	6: 49,107,467		probably benign	Het
Ip6k2	T	G	9: 108,804,627	D252E	probably damaging	Het
Kif18b	A	G	11: 102,915,175	V186A	probably damaging	Het
Klhl6	T	A	16: 19,949,447		probably null	Het
Lao1	C	T	4: 118,963,802	T75I	probably benign	Het
Lyst	T	C	13: 13,681,293	F2400L	probably benign	Het
Map3k9	A	T	12: 81,734,223	S388T	possibly damaging	Het
Mmp11	G	T	10: 75,926,933	H229N	probably damaging	Het
Myh7	T	G	14: 54,974,701	I1529L	probably benign	Het
Nckap5	G	T	1: 126,695,722	D11E	possibly damaging	Het
Ncoa1	A	T	12: 4,323,033	F123I	probably damaging	Het
Nelfb	A	T	2: 25,203,980	D385E	probably benign	Het
Obscn	C	T	11: 59,081,984	V2288M	probably damaging	Het
Olfr1428	C	T	19: 12,109,520	V9M	possibly damaging	Het
Olfr1445	A	G	19: 12,884,094	Y71C	probably damaging	Het
Olfr38	A	G	6: 42,762,220	H56R	probably damaging	Het
Olfr686	A	T	7: 105,204,160	M61K	probably damaging	Het
Otog	T	A	7: 46,269,249		probably benign	Het
Oxa1l	A	G	14: 54,368,189	E375G	possibly damaging	Het
Pan2	T	A	10: 128,308,222	I129K	possibly damaging	Het
Parp1	A	G	1: 180,599,051	I919M	probably benign	Het
Pnpla7	T	C	2: 24,995,293	Y174H	probably damaging	Het
Polr3b	T	C	10: 84,638,064	F169S	probably damaging	Het
Rab10	T	C	12: 3,264,743	D45G	probably damaging	Het
Reln	A	G	5: 21,980,109	S1537P	possibly damaging	Het
Sema6d	T	A	2: 124,665,277	S1045T	probably benign	Het
Setd2	T	C	9: 110,573,673	V1794A	probably damaging	Het
Spidr	T	A	16: 15,915,365	I589F	probably damaging	Het
Stmn4	A	C	14: 66,357,939	I165L	probably benign	Het
Stx5a	T	C	19: 8,749,937	M177T	probably damaging	Het
Tll1	T	C	8: 64,038,452		probably null	Het
Tmem192	T	C	8: 64,964,260	Y168H	probably damaging	Het
Ttc21a	C	T	9: 119,956,826		probably benign	Het
Ush2a	A	G	1: 188,714,466		probably benign	Het
Vezf1	A	G	11: 88,081,577	M255V	possibly damaging	Het
Vmn2r25	A	G	6: 123,839,827	F265S	probably damaging	Het
Vps13a	A	G	19: 16,704,577	S1021P	probably benign	Het
Wfdc16	T	C	2: 164,635,853	E92G	possibly damaging	Het
Zkscan2	T	C	7: 123,480,200	T845A	possibly 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
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
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'- GGACGAGGCCCTTAATCAGGAAAAC -3'
(R):5'- agccatcaccccaacccTCAAATG -3'

Sequencing Primer
(F):5'- CCGCTACATTGTCAAAGGC -3'
(R):5'- TCCACTGTTTTGCAGAGTCC -3'

Posted On

2013-06-12