Mutagenetix > Incidental Mutations

Incidental Mutation 'R9175:Iqcm'

696624

Institutional Source

Beutler Lab

Gene Symbol

Iqcm

Ensembl Gene

ENSMUSG00000031620

Gene Name

IQ motif containing M

Synonyms

1700007B14Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R9175 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75448694-75984503 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75984239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 472 (K472E)

Ref Sequence

ENSEMBL: ENSMUSP00000034033 (fasta)

Gene Model

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

AlphaFold

Q149I8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034033
AA Change: K472E

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: K472E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121983
AA Change: K472E

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: K472E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212704
AA Change: K472E

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,584,518		probably null	Het
2900092C05Rik	G	A	7: 12,515,485	D82N	probably benign	Het
Abca13	A	G	11: 9,581,593	K4607E	probably damaging	Het
Agpat4	G	C	17: 12,198,782	G70A	probably damaging	Het
Ank2	G	A	3: 126,928,753	T1017I	possibly damaging	Het
C2cd2	T	C	16: 97,877,221	I339V	probably benign	Het
Cacna1a	A	T	8: 84,570,015	N1221Y	probably damaging	Het
Cacna1e	A	G	1: 154,398,568	V2197A	probably damaging	Het
Ccdc74a	T	C	16: 17,650,178	S101P	probably benign	Het
Cdh13	A	T	8: 119,242,229	I442F	probably damaging	Het
Cnot2	A	T	10: 116,498,146	M373K	possibly damaging	Het
Coch	C	A	12: 51,598,277	H205N	possibly damaging	Het
Col6a4	A	G	9: 106,080,361	V88A	probably benign	Het
Erich3	A	G	3: 154,713,964	T35A	probably benign	Het
Gm28360	A	T	1: 117,853,598	K106N	possibly damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hspg2	T	C	4: 137,529,346	F1467L	probably damaging	Het
Ighg2c	T	C	12: 113,288,879	T18A		Het
Kcnk5	A	T	14: 20,142,049	V348D	probably benign	Het
Kcns3	C	T	12: 11,119,800		probably benign	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Muc5ac	A	G	7: 141,812,356	D2787G	possibly damaging	Het
Nasp	A	G	4: 116,614,379	C84R	probably damaging	Het
Nfia	G	A	4: 97,783,125	R24H	probably damaging	Het
Olfr1061	A	G	2: 86,413,755	I99T	probably benign	Het
Olfr330	T	C	11: 58,529,764	D74G	probably damaging	Het
Opa3	C	T	7: 19,255,541	R110C	probably damaging	Het
Papd7	A	G	13: 69,515,796	L268P	probably damaging	Het
Pdia4	A	C	6: 47,798,483	S464R	possibly damaging	Het
Rab3gap2	A	G	1: 185,277,163	D1092G	probably damaging	Het
Rev3l	A	G	10: 39,854,768	K2763E	possibly damaging	Het
Sorbs1	A	T	19: 40,326,574	L598Q	probably damaging	Het
Sppl2b	A	T	10: 80,862,973	M154L	probably benign	Het
Stk33	A	G	7: 109,321,517	I331T	probably damaging	Het
Strip2	A	G	6: 29,933,036	E494G	probably benign	Het
Supt6	C	T	11: 78,221,226	R1010Q	possibly damaging	Het
Tada1	G	A	1: 166,382,436	R69H	probably damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tomm34	A	G	2: 164,070,465		probably null	Het
Tpi1	T	C	6: 124,811,908	T223A	probably damaging	Het
Trpc3	T	A	3: 36,655,130	N399I	probably benign	Het
Vgll2	A	G	10: 52,027,539	H166R	probably damaging	Het
Vmn2r107	A	T	17: 20,356,789	I350F	possibly damaging	Het
Vmn2r114	T	A	17: 23,308,238	K440M	probably damaging	Het
Vmn2r55	T	C	7: 12,651,866	Y729C	possibly damaging	Het
Zfp106	G	T	2: 120,522,716	A1554E	probably damaging	Het
Zfyve27	A	G	19: 42,181,558	Y176C	probably damaging	Het
Zswim5	T	A	4: 116,965,744	N470K	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
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
R9475:Iqcm	UTSW	8	75753455	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'- GTCCAACAATGACTTTGGAGTGTC -3'
(R):5'- CTTGTCAACATCCAAAGATTTCACC -3'

Sequencing Primer
(F):5'- CAATGACTTTGGAGTGTCAATTGAC -3'
(R):5'- ACCCTTTATCCTGTCAATAGCAAATC -3'

Posted On

2022-02-07