Mutagenetix > Incidental Mutations

Incidental Mutation 'R7187:Iqcm'

559366

Institutional Source

Beutler Lab

Gene Symbol

Iqcm

Ensembl Gene

ENSMUSG00000031620

Gene Name

IQ motif containing M

Synonyms

1700007B14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75448694-75984503 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75753416 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 334 (L334R)

Ref Sequence

ENSEMBL: ENSMUSP00000034033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034033] [ENSMUST00000121983] [ENSMUST00000212704]

Predicted Effect

probably benign
Transcript: ENSMUST00000034033
AA Change: L334R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: L334R

Domain	Start	End	E-Value	Type
IQ	281	303	2.54e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121983
AA Change: L334R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: L334R

Domain	Start	End	E-Value	Type
IQ	281	303	2.54e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212704
AA Change: L334R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,437,721	Y716C	probably damaging	Het
Abcc1	A	G	16: 14,466,997	I1237V	probably benign	Het
Adam34	C	T	8: 43,652,528	A27T	probably benign	Het
Aff3	T	C	1: 38,218,397	S415G	probably damaging	Het
Ak7	T	C	12: 105,745,273	Y390H	probably benign	Het
Arap2	A	C	5: 62,669,053	M1056R	probably damaging	Het
Brf1	T	C	12: 112,960,325	Y676C	unknown	Het
Cachd1	T	A	4: 100,976,355	H776Q	possibly damaging	Het
Cacng7	T	C	7: 3,336,667	V28A	probably damaging	Het
Camk2g	A	T	14: 20,742,712	D359E	probably benign	Het
Cd209b	T	C	8: 3,926,638	D16G	probably benign	Het
Ceacam5	A	G	7: 17,759,485	E811G	possibly damaging	Het
Cecr2	T	A	6: 120,756,686	S545T	probably benign	Het
Cep55	T	C	19: 38,060,358		probably null	Het
Ctif	C	A	18: 75,637,219	V32L	probably damaging	Het
Cwc27	G	A	13: 104,661,392	A353V	probably benign	Het
Dclk3	T	A	9: 111,484,996	S713R	probably damaging	Het
Dlec1	C	T	9: 119,112,146	H255Y	probably benign	Het
Dlgap1	A	G	17: 70,516,098	H26R	possibly damaging	Het
Dydc1	C	T	14: 41,078,094	T19I	possibly damaging	Het
Efcab12	G	A	6: 115,823,513	P183L	not run	Het
Eri3	C	A	4: 117,589,146	Q219K	probably benign	Het
Fam135a	A	G	1: 24,044,214	L310P	probably damaging	Het
Fgd5	T	A	6: 91,988,291	S502T	possibly damaging	Het
Fgf8	A	G	19: 45,741,667	S57P	probably benign	Het
Gls	T	C	1: 52,219,980	E154G	probably damaging	Het
Gm21319	T	C	12: 87,773,938		probably benign	Het
Gm28042	T	C	2: 120,039,695	L705P	probably damaging	Het
Golgb1	C	A	16: 36,916,150	Q1961K	probably benign	Het
Herc3	C	A	6: 58,856,631	Q168K	probably benign	Het
Il31ra	C	A	13: 112,546,311	C168F	probably benign	Het
Ino80	A	T	2: 119,426,591	D860E	probably benign	Het
Lrrk2	A	G	15: 91,757,001	D1587G	possibly damaging	Het
Map4	T	A	9: 110,053,133	V355E	probably benign	Het
Mapk13	T	A	17: 28,776,387	I194N	probably damaging	Het
Mtus2	A	G	5: 148,076,705	T103A	probably benign	Het
Naglu	G	T	11: 101,070,332	G70W	probably benign	Het
Nlrp4f	A	T	13: 65,195,387	M126K	possibly damaging	Het
Olfr1225	T	C	2: 89,171,370		probably benign	Het
Olfr485	A	T	7: 108,159,378	V165E	probably benign	Het
Pdia4	T	C	6: 47,813,259	T16A	unknown	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Ripor1	A	G	8: 105,617,874	T547A	probably benign	Het
Rundc3b	A	G	5: 8,492,506	S389P	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spats2	T	C	15: 99,212,173	S484P	probably benign	Het
Supv3l1	G	A	10: 62,435,549	T403I	probably damaging	Het
Tacstd2	G	A	6: 67,535,196	R171W	probably damaging	Het
Taok2	A	T	7: 126,872,380	F542L	probably damaging	Het
Tbc1d31	T	A	15: 57,938,063	N331K	possibly damaging	Het
Tff2	A	T	17: 31,142,226	C118S	probably damaging	Het
Tmprss7	G	A	16: 45,677,954	T354I	possibly damaging	Het
Tmtc3	A	T	10: 100,477,912	F33I	probably damaging	Het
Tpbpa	G	A	13: 60,940,585		probably benign	Het
Ube3a	G	T	7: 59,275,905	V165F	probably benign	Het
Vmn2r4	T	G	3: 64,415,260	T13P	probably benign	Het
Wnt8b	A	G	19: 44,511,682	D236G	probably benign	Het
Ythdf3	C	A	3: 16,204,287	D210E	probably benign	Het
Zfp110	T	A	7: 12,849,826	Y800*	probably null	Het

Other mutations in Iqcm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01895:Iqcm	APN	8	75888560	missense	probably damaging	1.00
IGL02835:Iqcm	APN	8	75554883	utr 5 prime	probably benign
R0056:Iqcm	UTSW	8	75753386	missense	probably benign
R2146:Iqcm	UTSW	8	75888613	missense	probably damaging	1.00
R2910:Iqcm	UTSW	8	75714776	missense	probably benign
R3801:Iqcm	UTSW	8	75669393	missense	possibly damaging	0.59
R3804:Iqcm	UTSW	8	75669393	missense	possibly damaging	0.59
R3834:Iqcm	UTSW	8	75577752	missense	possibly damaging	0.93
R3897:Iqcm	UTSW	8	75753400	missense	probably damaging	1.00
R4447:Iqcm	UTSW	8	75629766	missense	probably damaging	0.97
R4448:Iqcm	UTSW	8	75629766	missense	probably damaging	0.97
R4450:Iqcm	UTSW	8	75629766	missense	probably damaging	0.97
R4687:Iqcm	UTSW	8	75762989	missense	probably damaging	1.00
R4810:Iqcm	UTSW	8	75888653	missense	probably damaging	1.00
R4845:Iqcm	UTSW	8	75746352	missense	probably damaging	0.99
R4856:Iqcm	UTSW	8	75888600	missense	possibly damaging	0.95
R4886:Iqcm	UTSW	8	75888600	missense	possibly damaging	0.95
R5063:Iqcm	UTSW	8	75746286	missense	probably damaging	1.00
R5460:Iqcm	UTSW	8	75714789	missense	probably benign
R6403:Iqcm	UTSW	8	75577996	critical splice donor site	probably null
R6667:Iqcm	UTSW	8	75753352	missense	probably damaging	1.00
R7263:Iqcm	UTSW	8	75763073	missense	probably benign
R7701:Iqcm	UTSW	8	75554911	missense	probably benign	0.02
R7916:Iqcm	UTSW	8	75577950	missense	probably benign
R7938:Iqcm	UTSW	8	75577968	missense	probably benign
R7974:Iqcm	UTSW	8	75554892	start codon destroyed	probably null	0.66
R8039:Iqcm	UTSW	8	75763105	missense	probably damaging	1.00
RF002:Iqcm	UTSW	8	75577899	missense	probably benign	0.01
X0018:Iqcm	UTSW	8	75984212	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGACTTTTACCGAAGCTGTTTACTC -3'
(R):5'- GTGTAGCCAAATAAGGATTCTGTTG -3'

Sequencing Primer
(F):5'- TACTCTGGATGCCCAAATGG -3'
(R):5'- GTACACAGCATGCCACTTTAAAATG -3'

Posted On

2019-06-26