Mutagenetix > Incidental Mutations

Incidental Mutation 'R4450:Iqcm'

328929

Institutional Source

Beutler Lab

Gene Symbol

Iqcm

Ensembl Gene

ENSMUSG00000031620

Gene Name

IQ motif containing M

Synonyms

1700007B14Rik

MMRRC Submission

041711-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4450 (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 75629766 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 176 (S176P)

Ref Sequence

ENSEMBL: ENSMUSP00000148495 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034033
AA Change: S176P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: S176P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121983
AA Change: S176P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: S176P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212704
AA Change: S176P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.3094

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	T	A	8: 10,926,129		noncoding transcript	Het
Acsl6	A	G	11: 54,328,403	D278G	probably damaging	Het
Adamdec1	C	T	14: 68,573,119	R196Q	probably benign	Het
Akap13	T	A	7: 75,742,760	F2450L	probably damaging	Het
Alg11	C	A	8: 22,068,079	A469E	probably benign	Het
Angel1	A	T	12: 86,721,924	Y262N	probably damaging	Het
Arhgef18	A	G	8: 3,437,097	E272G	probably damaging	Het
Bpifb6	A	G	2: 153,906,768	E228G	possibly damaging	Het
Brca2	T	G	5: 150,536,053	D264E	probably damaging	Het
Cdca4	T	C	12: 112,821,658	N150S	probably benign	Het
Cep162	T	C	9: 87,225,808	S510G	probably damaging	Het
Cldn12	T	C	5: 5,508,398	T10A	probably damaging	Het
Clip2	C	T	5: 134,502,953	G631D	possibly damaging	Het
Col19a1	T	A	1: 24,322,035	T625S	probably damaging	Het
Col6a5	C	T	9: 105,904,521	G1635D	unknown	Het
Dcp1b	A	G	6: 119,206,476	T175A	probably benign	Het
Eln	C	T	5: 134,725,781		probably benign	Het
Galnt2	A	G	8: 124,295,377	D14G	probably benign	Het
Gm9894	T	A	13: 67,765,080		noncoding transcript	Het
Herc2	T	C	7: 56,227,892	L4569P	probably damaging	Het
Hrasls	C	T	16: 29,228,224	T165M	possibly damaging	Het
Klhl42	G	A	6: 147,091,671	G47D	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lzts2	A	T	19: 45,023,593	K154*	probably null	Het
Map4k3	C	T	17: 80,603,982		probably null	Het
Mlc1	A	G	15: 88,963,490	F285S	probably benign	Het
Myo5a	T	A	9: 75,167,176	M789K	probably benign	Het
Nbeal1	T	A	1: 60,267,774	S319T	probably damaging	Het
Nsun4	A	T	4: 116,051,256	Y702*	probably null	Het
Olfr917	A	T	9: 38,665,754	V30E	probably benign	Het
Olfr954	G	A	9: 39,462,032	M200I	probably benign	Het
Osbpl5	T	A	7: 143,694,906	T640S	probably benign	Het
Rangrf	A	T	11: 68,975,184		probably benign	Het
Rnpc3	T	C	3: 113,611,137		probably benign	Het
Ros1	C	T	10: 52,077,942	G1867D	probably damaging	Het
Slc11a1	C	A	1: 74,385,535		probably benign	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Syt6	A	G	3: 103,585,645	H156R	probably benign	Het
Tln2	C	T	9: 67,344,065		probably null	Het
Trim58	T	C	11: 58,651,365	W384R	probably benign	Het
Wwc2	A	G	8: 47,868,667	Y471H	unknown	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
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
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'- GAGATATTCCTGCTGTTTACCCAC -3'
(R):5'- CTTACTAGTCGTCCCCGAAATC -3'

Sequencing Primer
(F):5'- TGAGGATGCCACAGCTCTAGTTC -3'
(R):5'- GAAATCTCTTTTCTCTTTTGACACAG -3'

Posted On

2015-07-21