Mutagenetix > Incidental Mutations

Incidental Mutation 'R7938:Iqcm'

648870

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: 0.095) question?

Stock #

R7938 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75448694-75984503 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75577968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 119 (C119F)

Ref Sequence

ENSEMBL: ENSMUSP00000034033 (fasta)

Gene Model

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

AlphaFold

Q149I8

Predicted Effect

probably benign
Transcript: ENSMUST00000034033
AA Change: C119F

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

SMART Domains

Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: C119F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121983
AA Change: C119F

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

SMART Domains

Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: C119F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212704
AA Change: C119F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,164,885	K393E	possibly damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Bcam	T	G	7: 19,756,813	E586D	probably benign	Het
Bmp7	A	C	2: 172,879,490	I264S	probably benign	Het
Casz1	G	A	4: 148,944,486	M1129I	probably benign	Het
Ccdc59	T	A	10: 105,841,594	N31K	probably benign	Het
Cfap61	A	G	2: 146,045,456	Y607C	probably benign	Het
Cnga1	T	C	5: 72,604,254	E639G	probably benign	Het
Coch	T	A	12: 51,596,583		probably null	Het
Col6a6	A	C	9: 105,780,684	Y776*	probably null	Het
Cyp1a1	T	G	9: 57,701,790	L318R	probably damaging	Het
Cyp3a16	T	A	5: 145,452,856	Y233F	probably benign	Het
Dgkz	G	T	2: 91,965,472	R42S	probably damaging	Het
Dner	A	G	1: 84,695,497	Y78H	possibly damaging	Het
Fam205a1	A	G	4: 42,850,765	S464P	possibly damaging	Het
Fat2	T	C	11: 55,273,096	N3111S	probably damaging	Het
Frmpd2	T	C	14: 33,538,289	S768P	probably benign	Het
Gm45861	T	A	8: 27,581,962	N1269K	unknown	Het
Gpr12	T	A	5: 146,583,284	Y276F	possibly damaging	Het
Hace1	C	T	10: 45,686,696	P769L	probably benign	Het
Hapln1	G	A	13: 89,605,228	R171H	probably damaging	Het
Hlx	T	G	1: 184,731,928	T72P	probably benign	Het
Katna1	G	T	10: 7,761,311	A409S	probably benign	Het
Kcnip2	A	T	19: 45,794,290	I204N	probably damaging	Het
Kel	G	T	6: 41,698,376	Q314K	probably benign	Het
Klf5	T	C	14: 99,299,008	V5A	probably damaging	Het
Lax1	A	T	1: 133,680,158	C282S	probably benign	Het
Lyar	A	G	5: 38,230,951	T274A	probably benign	Het
Mboat1	A	G	13: 30,231,976	H306R	possibly damaging	Het
Morn5	A	T	2: 36,057,070	Y120F	probably benign	Het
Mrgprx2	T	C	7: 48,482,492	T193A	probably benign	Het
Myh10	T	A	11: 68,692,501	W8R	unknown	Het
Nfasc	A	G	1: 132,605,531	V644A	probably damaging	Het
Nup153	G	T	13: 46,689,379		probably null	Het
Olfr1269	A	T	2: 90,118,829	Y256*	probably null	Het
Olfr187	A	T	16: 59,035,962	Y258*	probably null	Het
Olfr99	T	A	17: 37,280,100	M107L	probably benign	Het
Orc4	A	T	2: 48,910,191	V315E	possibly damaging	Het
Pcsk5	T	A	19: 17,466,185		probably null	Het
Pif1	A	G	9: 65,594,791	D635G	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Ppfia2	A	G	10: 106,474,787	T52A	probably damaging	Het
Ppp1r36	A	T	12: 76,438,406	D301V	probably damaging	Het
Prss46	A	G	9: 110,851,432	N215S	probably benign	Het
Qser1	A	C	2: 104,788,967	V410G	probably damaging	Het
Reln	A	C	5: 21,950,872	N2207K	probably damaging	Het
Rimkla	A	G	4: 119,470,613	V180A	probably benign	Het
Rpa1	CA	C	11: 75,307,224		probably null	Het
Rsph3a	G	T	17: 7,946,218	E137*	probably null	Het
Sqle	C	A	15: 59,324,466	H369Q	probably damaging	Het
Srebf2	T	A	15: 82,172,815	D250E	probably damaging	Het
Svs3b	A	T	2: 164,255,647	C251*	probably null	Het
Tdrd9	A	T	12: 112,031,215	N713Y	possibly damaging	Het
Terf2ip	T	C	8: 112,012,085	S202P	possibly damaging	Het
Trank1	A	G	9: 111,365,028	T707A	probably benign	Het
Trav8-1	T	G	14: 53,470,231	D109E	possibly damaging	Het
Trem2	T	A	17: 48,351,749	S181T	probably benign	Het
Trim37	A	G	11: 87,147,037	N199S	probably benign	Het
Tshz3	T	C	7: 36,769,158	F191L	probably damaging	Het
Ubxn8	A	G	8: 33,621,684	M227T	probably damaging	Het
Uggt2	T	A	14: 119,059,107	I448F	possibly damaging	Het
Usp47	T	A	7: 112,087,925	L697M	probably damaging	Het
Vmn2r52	T	C	7: 10,159,373	D613G	probably benign	Het
Wdr81	T	C	11: 75,448,002	T1444A	probably benign	Het
Zfp423	T	C	8: 87,895,676	Y11C	unknown	Het
Zw10	T	A	9: 49,071,633	D521E	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
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
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'- GGCTCAAGGAACGTCTATAGATGTC -3'
(R):5'- GAAGCTCCAGGTACCATCATCC -3'

Sequencing Primer
(F):5'- ACTGTCAAGTTCATACCTTTTGAGG -3'
(R):5'- CCAGGTACCATCATCCTCATC -3'

Posted On

2020-09-15