Mutagenetix > Incidental Mutations

Incidental Mutation 'R2000:Ice1'

225858

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

040010-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R2000 (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 70602427 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 47 (V47M)

Ref Sequence

ENSEMBL: ENSMUSP00000152818 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043493
AA Change: V1847M

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: V1847M

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

possibly damaging
Transcript: ENSMUST00000220637
AA Change: V47M

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000222568

Predicted Effect

probably benign
Transcript: ENSMUST00000222627

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf2	T	C	2: 73,863,240		probably null	Het
Atrn	T	C	2: 130,935,588	Y186H	probably damaging	Het
Birc6	T	C	17: 74,604,619	V1528A	possibly damaging	Het
Brpf3	A	C	17: 28,821,557	E984A	probably benign	Het
Btnl9	T	C	11: 49,169,121	N600S	probably benign	Het
C330027C09Rik	A	T	16: 49,014,969	Q699L	probably damaging	Het
Camk1d	A	T	2: 5,362,025	Y126*	probably null	Het
Casp8ap2	T	A	4: 32,634,874	L136H	probably damaging	Het
Cd46	A	G	1: 195,077,704	I280T	probably benign	Het
Crebbp	A	T	16: 4,084,252	H2374Q	probably damaging	Het
Dock3	A	G	9: 106,992,961		probably benign	Het
Dph7	T	A	2: 24,971,641	D355E	probably benign	Het
Dync1li1	C	A	9: 114,713,563	F264L	probably benign	Het
Fer1l6	G	A	15: 58,602,311		probably benign	Het
Flt3	T	C	5: 147,341,238	D842G	probably damaging	Het
Fosl1	A	G	19: 5,450,355		probably benign	Het
Gabrr2	T	A	4: 33,084,400	I162N	probably damaging	Het
Gata6	T	C	18: 11,054,113	F14S	probably benign	Het
Gm10767	A	T	13: 66,908,150	N69I	possibly damaging	Het
Gm15446	T	C	5: 109,942,811	S310P	possibly damaging	Het
Gm4759	G	A	7: 106,423,231	S188L	probably benign	Het
Gmppa	A	C	1: 75,441,528	D190A	probably damaging	Het
Gpr108	C	T	17: 57,236,712	G455S	probably benign	Het
Gstm1	A	G	3: 108,014,811	F170S	probably damaging	Het
Gzf1	T	C	2: 148,684,611	I334T	probably benign	Het
Hadh	A	T	3: 131,245,239	I156K	probably benign	Het
Htr5a	G	A	5: 27,850,889	V293M	possibly damaging	Het
Ifnl3	G	T	7: 28,522,929	A32S	possibly damaging	Het
Itsn2	T	A	12: 4,666,176	Y978*	probably null	Het
Kif1a	G	T	1: 93,054,329	T792N	probably damaging	Het
Lgals9	T	C	11: 78,973,170	N50D	probably benign	Het
Lrp2	A	G	2: 69,467,090	Y3176H	probably damaging	Het
Lvrn	A	T	18: 46,905,307	N976I	probably benign	Het
Magea10	A	T	X: 72,382,773	I205K	probably benign	Het
Myo1c	A	T	11: 75,670,579	M820L	probably damaging	Het
Neb	A	T	2: 52,212,970	C4222*	probably null	Het
Nkain2	T	A	10: 32,890,285		probably benign	Het
Olfr1155	G	A	2: 87,943,146	L161F	probably benign	Het
Olfr401	A	G	11: 74,121,580	Y97C	probably benign	Het
Olfr981	A	G	9: 40,022,689	I99V	probably benign	Het
Parp4	C	T	14: 56,613,724	T728M	probably damaging	Het
Pnmal1	T	A	7: 16,961,039	V273D	probably benign	Het
Ppp1r9b	A	G	11: 94,996,620	E486G	probably damaging	Het
Pth2	C	A	7: 45,181,722	R98S	possibly damaging	Het
Rif1	T	A	2: 52,081,298	F263I	probably damaging	Het
Rnf213	A	T	11: 119,436,022	I1613F	probably damaging	Het
Rsbn1l	G	A	5: 20,902,370	H549Y	probably damaging	Het
Rtl1	C	A	12: 109,593,887	W506L	probably damaging	Het
Slc4a4	C	T	5: 89,028,347	P59L	probably damaging	Het
Smarcad1	A	G	6: 65,073,216	E273G	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Ttf1	T	A	2: 29,065,185	L187Q	possibly damaging	Het
Ttn	A	T	2: 76,969,703	I387N	probably damaging	Het
Ufsp1	T	C	5: 137,294,904		probably null	Het
Uox	A	C	3: 146,610,399	K30Q	possibly damaging	Het
Ush1c	A	G	7: 46,221,433	S327P	probably damaging	Het
Wwc1	A	T	11: 35,876,547	L419Q	probably damaging	Het
Xrn1	C	T	9: 96,045,563	Q1463*	probably null	Het
Yeats2	G	A	16: 20,186,391	A393T	probably benign	Het
Zfp101	C	T	17: 33,381,517	A422T	possibly damaging	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
R1596:Ice1	UTSW	13	70604895	missense	possibly damaging	0.94
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
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'- ACACATGACTACGAATGACAGG -3'
(R):5'- ACTGCATTTGTCCTAACGGG -3'

Sequencing Primer
(F):5'- CTACGAATGACAGGTAGCAGGTC -3'
(R):5'- CTGACGGTAGCCAAGGTAAGTCAC -3'

Posted On

2014-08-25