Mutagenetix > Incidental Mutations

Incidental Mutation 'R2910:Iqcm'

261191

Institutional Source

Beutler Lab

Gene Symbol

Iqcm

Ensembl Gene

ENSMUSG00000031620

Gene Name

IQ motif containing M

Synonyms

1700007B14Rik

MMRRC Submission

040497-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R2910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75448694-75984503 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75714776 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 226 (I226F)

Ref Sequence

ENSEMBL: ENSMUSP00000148495 (fasta)

Gene Model

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

AlphaFold

Q149I8

Predicted Effect

probably benign
Transcript: ENSMUST00000034033
AA Change: I226F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: I226F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120430

Predicted Effect

probably benign
Transcript: ENSMUST00000121983
AA Change: I226F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: I226F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212704
AA Change: I226F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	G	A	11: 58,608,426	Q189*	probably null	Het
Abcf3	A	G	16: 20,560,232	T645A	probably damaging	Het
Acap1	A	G	11: 69,887,076		probably benign	Het
Adgrv1	G	A	13: 81,557,119	A1524V	possibly damaging	Het
Agbl1	A	G	7: 76,419,838	N121D	probably benign	Het
Ahnak	A	G	19: 9,011,654	D3434G	probably damaging	Het
Ankrd11	A	T	8: 122,908,798	D32E	probably damaging	Het
Asxl1	T	C	2: 153,401,039	S1170P	probably benign	Het
Atp8b3	G	A	10: 80,519,912	S1322F	possibly damaging	Het
Car15	G	A	16: 17,838,142		probably benign	Het
Cep104	T	A	4: 153,995,427		probably null	Het
Cnnm1	A	G	19: 43,469,647	I633V	possibly damaging	Het
Cog8	A	T	8: 107,054,221	V135E	probably benign	Het
Cts6	A	G	13: 61,196,401	V279A	probably damaging	Het
Ddx1	C	T	12: 13,231,440		probably null	Het
Dock2	A	G	11: 34,232,910		probably benign	Het
Ero1lb	T	A	13: 12,600,289	D336E	probably damaging	Het
F11	C	G	8: 45,241,449	*625S	probably null	Het
F5	A	G	1: 164,204,820	M1779V	probably benign	Het
Fam227a	A	T	15: 79,636,734	D296E	possibly damaging	Het
Fbxo38	T	C	18: 62,519,807	D523G	probably benign	Het
Ggt1	G	A	10: 75,580,596	V275M	probably benign	Het
Gm379	A	C	X: 108,664,765	F43V	possibly damaging	Het
Grhl3	T	C	4: 135,559,146	I75V	probably benign	Het
Kcnq1	T	G	7: 143,425,962	L615R	probably damaging	Het
Lcp2	G	A	11: 34,068,970		probably null	Het
Mbtps1	A	G	8: 119,546,037	I123T	possibly damaging	Het
Muc5ac	C	T	7: 141,807,641	T1563I	probably damaging	Het
Odf2l	A	C	3: 145,124,323	I19L	probably benign	Het
Olfr193	C	T	16: 59,110,181	R143H	probably benign	Het
Olfr993	T	A	2: 85,414,351	H176L	probably damaging	Het
Pigr	A	G	1: 130,849,533	D692G	probably damaging	Het
Pkd1l3	A	G	8: 109,667,636		probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452		probably benign	Het
Reep2	T	C	18: 34,845,690		probably null	Het
Rubcnl	C	T	14: 75,040,808	T344I	probably benign	Het
Sema6d	C	A	2: 124,665,037	P941T	probably damaging	Het
Shcbp1l	C	A	1: 153,428,626	L144I	probably damaging	Het
Slc7a1	T	C	5: 148,352,257	E60G	probably benign	Het
Snx2	C	T	18: 53,199,874	P207S	probably damaging	Het
Spata31	T	G	13: 64,920,436	S133A	probably benign	Het
Tac1	A	G	6: 7,559,097		probably null	Het
Tfpi	A	C	2: 84,444,093	V184G	possibly damaging	Het
Tmeff1	C	A	4: 48,614,961	N139K	possibly damaging	Het
Tnxb	A	G	17: 34,672,450	D589G	probably damaging	Het
Trpc1	C	A	9: 95,749,842	A16S	probably benign	Het
Vmn2r106	A	C	17: 20,278,684	L322V	probably damaging	Het
Vmn2r69	G	T	7: 85,406,710	A740D	probably damaging	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
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
R7187:Iqcm	UTSW	8	75753416	missense	probably benign	0.22
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
R8703:Iqcm	UTSW	8	75888643	missense	probably damaging	1.00
R9175:Iqcm	UTSW	8	75984239	missense	possibly damaging	0.84
RF002:Iqcm	UTSW	8	75577899	missense	probably benign	0.01
X0018:Iqcm	UTSW	8	75984212	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCTTCAAGAATTTGAGGGTAATGTAG -3'
(R):5'- TGAGCTCTCAACAACTTATACTCC -3'

Sequencing Primer
(F):5'- ACTAAGCGTTATATATCTGCATGC -3'
(R):5'- TCCCTGGTATTTCAGTACTAAAGTC -3'

Posted On

2015-01-23