Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02929:Ice1'

364015

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.927) question?

Stock #

IGL02929

Quality Score

Status

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70596203 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2087 (L2087P)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043493
AA Change: L2087P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: L2087P

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

unknown
Transcript: ENSMUST00000222274
AA Change: L14P

Predicted Effect

unknown
Transcript: ENSMUST00000223102
AA Change: L17P

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,245,082	M75K	possibly damaging	Het
A330070K13Rik	A	G	5: 130,384,411		probably null	Het
Abcb5	T	C	12: 118,944,939	Y90C	probably damaging	Het
Accs	T	C	2: 93,844,221	D112G	probably damaging	Het
Adam32	C	A	8: 24,872,643	V13L	possibly damaging	Het
Adgrb3	A	G	1: 25,553,824	V294A	probably benign	Het
Aes	T	A	10: 81,564,838		probably null	Het
Agt	G	T	8: 124,557,090	A430E	probably benign	Het
Agxt2	T	C	15: 10,388,293		probably benign	Het
Atp2a1	A	T	7: 126,456,944	I235N	probably damaging	Het
Atp8b1	T	C	18: 64,561,662	I516M	possibly damaging	Het
Atrx	T	C	X: 105,879,906		probably null	Het
Brcc3	T	C	X: 75,435,499	V117A	possibly damaging	Het
Casp8ap2	T	C	4: 32,624,105		probably benign	Het
Ceacam3	T	A	7: 17,158,190	V286D	probably damaging	Het
Cpb1	T	C	3: 20,275,466	D32G	probably benign	Het
Cpsf1	C	A	15: 76,602,127		probably null	Het
Dock2	A	T	11: 34,268,048	V1174E	probably damaging	Het
Dqx1	A	G	6: 83,060,484		probably benign	Het
Ercc1	T	C	7: 19,355,363		probably null	Het
Fn1	A	G	1: 71,595,662		probably null	Het
Ift122	A	G	6: 115,902,877	D612G	probably damaging	Het
Igkv6-25	A	G	6: 70,215,945	Y112C	probably damaging	Het
Kit	C	A	5: 75,640,769	P572Q	probably damaging	Het
Kras	A	G	6: 145,232,089		probably benign	Het
Ltv1	T	C	10: 13,192,226	K6R	possibly damaging	Het
Man1a	C	T	10: 53,925,435	V443I	probably benign	Het
Mat2b	A	C	11: 40,684,713	D154E	probably benign	Het
Mtrf1	A	G	14: 79,402,833	K143E	probably benign	Het
Myh13	A	C	11: 67,367,165	I95L	probably damaging	Het
Myo7b	A	T	18: 31,994,925	D571E	probably benign	Het
Nek10	T	A	14: 14,821,119	D28E	possibly damaging	Het
Npm2	T	A	14: 70,652,238		probably null	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Plcb2	G	A	2: 118,713,234		probably benign	Het
Ppp1r3a	A	G	6: 14,719,811	M368T	probably benign	Het
Rnf123	G	T	9: 108,069,076	T300K	probably benign	Het
Sbspon	A	G	1: 15,883,845		probably benign	Het
Slc52a2	G	A	15: 76,540,576	C338Y	probably benign	Het
Tdrd6	T	A	17: 43,629,713	Q148L	possibly damaging	Het
Trpc3	T	A	3: 36,638,474	K790*	probably null	Het
Ushbp1	C	T	8: 71,394,476	A171T	probably damaging	Het
Usp32	T	C	11: 84,988,372	T1504A	probably benign	Het
Wdr78	C	T	4: 103,059,991	W552*	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
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
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

Posted On

2015-12-18