Mutagenetix > Incidental Mutations

Incidental Mutation 'R1596:Ice1'

175831

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

039633-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R1596 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70604895 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1024 (R1024H)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043493] [ENSMUST00000220637] [ENSMUST00000222568]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043493
AA Change: R1024H

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: R1024H

Domain	Start	End	E-Value	Type
coiled coil region	22	185	N/A	INTRINSIC
low complexity region	276	292	N/A	INTRINSIC
low complexity region	338	351	N/A	INTRINSIC
low complexity region	372	378	N/A	INTRINSIC
low complexity region	469	481	N/A	INTRINSIC
low complexity region	606	619	N/A	INTRINSIC
low complexity region	769	780	N/A	INTRINSIC
low complexity region	946	958	N/A	INTRINSIC
low complexity region	1061	1073	N/A	INTRINSIC
low complexity region	1329	1352	N/A	INTRINSIC
low complexity region	1595	1604	N/A	INTRINSIC
low complexity region	1656	1671	N/A	INTRINSIC
SCOP:d1gw5a_	2026	2223	5e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220637

Predicted Effect

probably benign
Transcript: ENSMUST00000222568

Predicted Effect

probably benign
Transcript: ENSMUST00000222627

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 87.7%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	G	15: 37,425,774		probably benign	Het
Abca8a	T	A	11: 110,068,060	Y745F	possibly damaging	Het
Abl1	A	G	2: 31,790,338	N316S	probably damaging	Het
Ackr2	T	C	9: 121,909,212	F218L	probably damaging	Het
Adam6b	T	A	12: 113,491,026	Y488N	probably damaging	Het
Arhgap10	A	G	8: 77,450,697	I103T	possibly damaging	Het
Atm	A	G	9: 53,453,378	V2669A	probably damaging	Het
Atp10b	A	G	11: 43,235,767	K1117E	probably damaging	Het
Brinp3	T	C	1: 146,514,782	V22A	probably benign	Het
Casp8	G	T	1: 58,831,674		probably benign	Het
Ccdc178	T	A	18: 22,020,873	K626N	possibly damaging	Het
Clcn6	T	A	4: 148,023,379	S193C	probably damaging	Het
Col11a1	C	T	3: 114,152,613		probably benign	Het
Csn1s2b	T	A	5: 87,819,058		probably benign	Het
Cst10	T	C	2: 149,405,409	V15A	unknown	Het
Cttnbp2	A	G	6: 18,408,592	F1010S	probably damaging	Het
Dlg2	T	C	7: 92,431,051	V614A	probably damaging	Het
Dsg1c	A	G	18: 20,282,047	Y667C	probably damaging	Het
Ep400	A	T	5: 110,708,861		probably benign	Het
Fam83c	C	T	2: 155,831,062		probably null	Het
Fbxw20	C	T	9: 109,221,300	C419Y	probably damaging	Het
Fgd2	G	A	17: 29,376,930	V521I	probably benign	Het
Frrs1	A	G	3: 116,883,199		probably benign	Het
Gli3	C	A	13: 15,725,471	Q1148K	possibly damaging	Het
Hdac5	G	T	11: 102,204,656		probably null	Het
Irak3	A	T	10: 120,182,546	I99N	probably damaging	Het
Klhl31	A	G	9: 77,650,074	D24G	probably damaging	Het
Lrba	C	T	3: 86,350,304	Q1292*	probably null	Het
Map1a	C	T	2: 121,289,765	A44V	probably benign	Het
Mbd2	T	A	18: 70,616,632	M306K	probably damaging	Het
Mrc1	C	T	2: 14,248,890	H241Y	possibly damaging	Het
Mrgprg	A	G	7: 143,764,694	F227S	possibly damaging	Het
Ncapg2	T	A	12: 116,419,236	L229H	probably damaging	Het
Ncf4	G	A	15: 78,250,437	E30K	probably damaging	Het
Nlrp4c	C	A	7: 6,066,778	D559E	probably benign	Het
Nxpe4	T	A	9: 48,396,555	W320R	probably damaging	Het
Olfr1346	T	C	7: 6,474,515	L135P	probably damaging	Het
Olfr503	T	A	7: 108,545,083	M184K	possibly damaging	Het
Olfr519	T	A	7: 108,893,879	H176L	probably damaging	Het
Pdzrn3	A	G	6: 101,151,005	V900A	probably benign	Het
Prcp	T	C	7: 92,917,834		probably benign	Het
Prkaa2	A	T	4: 105,036,329	D474E	probably damaging	Het
Prl3a1	A	G	13: 27,259,617		probably benign	Het
Ptpra	T	A	2: 130,544,952	Y624N	probably damaging	Het
Ramp1	T	C	1: 91,223,300	V129A	possibly damaging	Het
Reep1	G	T	6: 71,756,437		probably null	Het
Robo3	C	T	9: 37,424,632		probably null	Het
Sapcd2	T	A	2: 25,376,410	I403N	probably damaging	Het
Sdk2	T	A	11: 113,838,609		probably benign	Het
Serpinb3a	T	C	1: 107,047,174	M210V	probably benign	Het
Slc45a3	T	A	1: 131,981,529	I488N	probably damaging	Het
Tnrc6c	C	T	11: 117,758,041	P1513S	probably damaging	Het
Trank1	T	A	9: 111,366,290	H1127Q	possibly damaging	Het
Trim67	T	C	8: 124,826,139	V660A	probably damaging	Het
Ubash3b	A	G	9: 41,031,497	I233T	probably benign	Het
Unkl	A	G	17: 25,205,733	R245G	probably null	Het

Other mutations in Ice1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Ice1	APN	13	70602289	missense	probably damaging	1.00
IGL01155:Ice1	APN	13	70604082	missense	possibly damaging	0.93
IGL01298:Ice1	APN	13	70604904	missense	possibly damaging	0.93
IGL01797:Ice1	APN	13	70623946	missense	probably damaging	1.00
IGL02423:Ice1	APN	13	70592599	missense	probably damaging	1.00
IGL02583:Ice1	APN	13	70605735	missense	possibly damaging	0.80
IGL02794:Ice1	APN	13	70609159	missense	possibly damaging	0.95
IGL02882:Ice1	APN	13	70624474	splice site	probably benign
IGL02929:Ice1	APN	13	70596203	missense	probably damaging	1.00
IGL03343:Ice1	APN	13	70602929	missense	probably damaging	1.00
IGL03384:Ice1	APN	13	70603249	missense	probably benign	0.00
PIT4651001:Ice1	UTSW	13	70623921	critical splice donor site	probably null
R0078:Ice1	UTSW	13	70603348	missense	probably damaging	0.98
R0081:Ice1	UTSW	13	70619044	nonsense	probably null
R0281:Ice1	UTSW	13	70604047	missense	possibly damaging	0.64
R0557:Ice1	UTSW	13	70601191	missense	probably benign	0.08
R0973:Ice1	UTSW	13	70602427	missense	probably benign	0.04
R0973:Ice1	UTSW	13	70602427	missense	probably benign	0.04
R0974:Ice1	UTSW	13	70602427	missense	probably benign	0.04
R1033:Ice1	UTSW	13	70606594	missense	probably damaging	0.96
R1371:Ice1	UTSW	13	70596221	missense	probably damaging	1.00
R1525:Ice1	UTSW	13	70605410	missense	probably benign	0.01
R1539:Ice1	UTSW	13	70605904	missense	probably damaging	1.00
R1603:Ice1	UTSW	13	70603353	missense	probably benign	0.01
R1680:Ice1	UTSW	13	70605448	missense	probably benign	0.00
R1737:Ice1	UTSW	13	70606325	missense	probably damaging	0.99
R1766:Ice1	UTSW	13	70604442	missense	possibly damaging	0.78
R1774:Ice1	UTSW	13	70604553	missense	probably damaging	1.00
R1834:Ice1	UTSW	13	70615338	missense	probably damaging	0.99
R1840:Ice1	UTSW	13	70606218	missense	probably benign	0.00
R1898:Ice1	UTSW	13	70602307	missense	possibly damaging	0.83
R1930:Ice1	UTSW	13	70605083	missense	probably benign	0.18
R2000:Ice1	UTSW	13	70602427	missense	possibly damaging	0.58
R2106:Ice1	UTSW	13	70605622	missense	probably benign	0.00
R2293:Ice1	UTSW	13	70614957	missense	probably damaging	1.00
R2377:Ice1	UTSW	13	70602780	missense	probably damaging	1.00
R2909:Ice1	UTSW	13	70596173	missense	probably damaging	1.00
R2965:Ice1	UTSW	13	70602578	missense	probably benign	0.31
R3730:Ice1	UTSW	13	70603240	missense	probably damaging	1.00
R3886:Ice1	UTSW	13	70605370	missense	probably benign	0.00
R3914:Ice1	UTSW	13	70606084	missense	probably benign	0.30
R4051:Ice1	UTSW	13	70603527	missense	probably damaging	1.00
R4321:Ice1	UTSW	13	70603110	missense	possibly damaging	0.83
R4499:Ice1	UTSW	13	70609027	missense	possibly damaging	0.87
R4729:Ice1	UTSW	13	70606384	missense	probably damaging	1.00
R5078:Ice1	UTSW	13	70604850	missense	probably benign
R5431:Ice1	UTSW	13	70592650	missense	probably damaging	1.00
R5722:Ice1	UTSW	13	70615100	missense	possibly damaging	0.95
R5881:Ice1	UTSW	13	70606501	missense	probably benign	0.04
R5914:Ice1	UTSW	13	70606377	missense	possibly damaging	0.93
R6171:Ice1	UTSW	13	70606731	missense	probably benign
R6253:Ice1	UTSW	13	70603164	missense	probably damaging	1.00
R6274:Ice1	UTSW	13	70594839	missense	probably damaging	0.97
R6518:Ice1	UTSW	13	70606309	missense	possibly damaging	0.89
R6665:Ice1	UTSW	13	70603473	missense	possibly damaging	0.85
R6714:Ice1	UTSW	13	70615263	intron	probably null
R6853:Ice1	UTSW	13	70603302	missense	possibly damaging	0.92
R6917:Ice1	UTSW	13	70594894	missense	probably damaging	1.00
R7032:Ice1	UTSW	13	70596164	missense	probably damaging	0.99
R7176:Ice1	UTSW	13	70624406	critical splice donor site	probably null
R7352:Ice1	UTSW	13	70606102	nonsense	probably null
R7445:Ice1	UTSW	13	70596167	missense
R7646:Ice1	UTSW	13	70589797	missense	possibly damaging	0.93
R7647:Ice1	UTSW	13	70589797	missense	possibly damaging	0.93
R7648:Ice1	UTSW	13	70589797	missense	possibly damaging	0.93
R7650:Ice1	UTSW	13	70589797	missense	possibly damaging	0.93
R7650:Ice1	UTSW	13	70605483	missense	probably damaging	1.00
R7812:Ice1	UTSW	13	70603005	missense	possibly damaging	0.63
X0026:Ice1	UTSW	13	70592602	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATTCTTCAAGTGCGGAGGTCAG -3'
(R):5'- AACCACACAGTCAGGTGCCAGTAG -3'

Sequencing Primer
(F):5'- GTCAGATCACCTACATCTGAGGG -3'
(R):5'- TGCCAGTAGGCTGGAGG -3'

Posted On

2014-04-24