Mutagenetix > Incidental Mutations

Incidental Mutation 'R3834:Iqcm'

275549

Institutional Source

Beutler Lab

Gene Symbol

Iqcm

Ensembl Gene

ENSMUSG00000031620

Gene Name

IQ motif containing M

Synonyms

1700007B14Rik

MMRRC Submission

040889-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75448694-75984503 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75577752 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 47 (I47T)

Ref Sequence

ENSEMBL: ENSMUSP00000148495 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034033
AA Change: I47T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: I47T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121983
AA Change: I47T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: I47T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212704
AA Change: I47T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.0709

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
Adh6a	G	A	3: 138,327,514		probably null	Het
Bptf	T	C	11: 107,073,857	T1389A	probably benign	Het
Cfap54	A	G	10: 92,801,123		probably benign	Het
Coq5	G	T	5: 115,284,576	G180W	probably damaging	Het
Cyp2d34	A	G	15: 82,616,746		probably null	Het
Cyp2j13	C	T	4: 96,056,557		probably null	Het
Fam114a1	C	T	5: 65,006,073	T197I	possibly damaging	Het
Fbxo44	A	G	4: 148,156,250	Y227H	probably damaging	Het
Gm5114	T	A	7: 39,408,737	H486L	possibly damaging	Het
Grik4	T	C	9: 42,629,123	R254G	probably benign	Het
Kif20b	A	G	19: 34,935,028	Y278C	probably damaging	Het
Lbhd1	G	A	19: 8,884,057	C43Y	probably benign	Het
Lrfn5	T	A	12: 61,840,030	D201E	probably damaging	Het
Map1a	G	A	2: 121,307,322	G2635D	probably damaging	Het
Ms4a4a	A	T	19: 11,378,855	M35L	probably benign	Het
Muc5b	A	T	7: 141,859,181	I1955F	unknown	Het
Mug2	T	C	6: 122,049,787		probably null	Het
Nav2	T	A	7: 49,545,858	I994N	possibly damaging	Het
Ngly1	T	C	14: 16,290,766		probably benign	Het
Nr1i2	T	C	16: 38,253,929		probably null	Het
Olfr494	A	T	7: 108,368,072	D194V	probably damaging	Het
Olfr561	A	G	7: 102,775,286	Y254C	probably damaging	Het
Olfr651	T	A	7: 104,553,345	V142D	probably benign	Het
Oxct2a	C	T	4: 123,322,473	V372I	probably benign	Het
Pax6	G	A	2: 105,696,450	E234K	probably benign	Het
Pramef17	T	A	4: 143,994,226	K48N	probably benign	Het
Prkdc	A	G	16: 15,791,946	E3138G	probably damaging	Het
Ptprc	T	A	1: 138,083,567	N584I	probably damaging	Het
Ptprt	A	G	2: 161,547,387	V1261A	probably damaging	Het
Rps20	A	T	4: 3,834,610	I84N	probably damaging	Het
Scd3	A	G	19: 44,241,717	Y313C	probably damaging	Het
Sertad2	T	C	11: 20,648,482	I226T	probably benign	Het
Slc15a2	A	T	16: 36,772,128	C191*	probably null	Het
Slco1a1	G	T	6: 141,943,437	Q50K	possibly damaging	Het
Stab2	A	T	10: 86,949,912	I622N	possibly damaging	Het
Tmc4	C	T	7: 3,672,007	V222M	probably benign	Het
Tmem145	T	C	7: 25,311,361	F359L	probably damaging	Het
Tmem238	C	A	7: 4,789,079	R155L	possibly damaging	Het
Vmn1r32	C	A	6: 66,553,663	C43F	probably benign	Het
Vmn2r104	C	T	17: 20,029,921	R696K	probably benign	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
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
RF002:Iqcm	UTSW	8	75577899	missense	probably benign	0.01
X0018:Iqcm	UTSW	8	75984212	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGTGTGGGCTTAACTGATAACC -3'
(R):5'- TCGACACATGTGGCTCCTTG -3'

Sequencing Primer
(F):5'- GTGGGCTTAACTGATAACCATCATGC -3'
(R):5'- CCTTGAAGGAAATCTGCTGTGAG -3'

Posted On

2015-04-06