Mutagenetix > Incidental Mutations

Incidental Mutation 'R3897:Iqcm'

309013

Institutional Source

Beutler Lab

Gene Symbol

Iqcm

Ensembl Gene

ENSMUSG00000031620

Gene Name

IQ motif containing M

Synonyms

1700007B14Rik

MMRRC Submission

040808-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75448694-75984503 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75753400 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 329 (R329C)

Ref Sequence

ENSEMBL: ENSMUSP00000148495 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034033
AA Change: R329C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: R329C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121983
AA Change: R329C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: R329C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212704
AA Change: R329C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.0934

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	A	G	1: 134,390,438	D316G	possibly damaging	Het
Adam15	T	C	3: 89,346,938	H184R	probably benign	Het
Ap1g1	A	G	8: 109,854,999	D633G	probably damaging	Het
Arhgef28	C	T	13: 97,956,576	R999H	probably damaging	Het
Armc3	T	C	2: 19,269,177	S341P	probably damaging	Het
Cmya5	T	C	13: 93,096,681	E633G	possibly damaging	Het
Colgalt1	G	A	8: 71,619,662	M275I	probably damaging	Het
Commd7	T	C	2: 153,622,790	T23A	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
Dlgap4	C	A	2: 156,746,069	P89Q	probably damaging	Het
Ecm1	A	G	3: 95,735,986	L334P	probably damaging	Het
Fzd8	G	A	18: 9,214,939	V674I	possibly damaging	Het
Gosr2	A	G	11: 103,697,646	Y5H	possibly damaging	Het
Gria4	T	A	9: 4,513,260	D283V	probably damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Kdm4b	T	C	17: 56,396,955	C233R	probably damaging	Het
Ltbp1	T	C	17: 75,274,016	C391R	probably damaging	Het
Man2b1	G	T	8: 85,096,948		probably benign	Het
Nisch	A	G	14: 31,191,000		probably benign	Het
Nrxn2	T	G	19: 6,519,257	D1394E	probably damaging	Het
Olfr1259	T	C	2: 89,943,809	E102G	probably benign	Het
Olfr1283	T	C	2: 111,368,761	L43P	possibly damaging	Het
Pabpc6	T	C	17: 9,669,127	D165G	probably benign	Het
Psat1	A	G	19: 15,919,453		probably null	Het
Psd	A	C	19: 46,324,585	N115K	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rnf144a	A	G	12: 26,310,713	V275A	probably damaging	Het
Slc35b3	A	G	13: 38,934,763	F356L	probably benign	Het
Tmc4	A	G	7: 3,671,088	V364A	probably benign	Het
Tmem203	T	C	2: 25,255,923	F85S	probably benign	Het
Tra2a	T	C	6: 49,245,542		probably benign	Het
Ttc21b	C	T	2: 66,235,069	E454K	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
R3834:Iqcm	UTSW	8	75577752	missense	possibly damaging	0.93
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'- ATGGGAATGGCTGTCAGTGC -3'
(R):5'- AAAACAGTCTCCCTTCCATTGC -3'

Sequencing Primer
(F):5'- AATGGCTGTCAGTGCTCAGAG -3'
(R):5'- AGTCTCCCTTCCATTGCTAGGAATAG -3'

Posted On

2015-04-17