Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02583:Ice1'

299432

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: 0.952) question?

Stock #

IGL02583

Quality Score

Status

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70605735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 744 (R744H)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043493
AA Change: R744H

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: R744H

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	C	T	5: 26,479,719		noncoding transcript	Het
A430005L14Rik	T	A	4: 153,960,935	D140E	possibly damaging	Het
Bod1l	C	T	5: 41,816,207		probably null	Het
Brms1	T	A	19: 5,046,178	V61D	probably damaging	Het
Card11	A	T	5: 140,878,126	N952K	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Col15a1	T	C	4: 47,279,866	V697A	probably benign	Het
Col7a1	A	T	9: 108,962,229	I1118F	unknown	Het
Cyfip2	T	C	11: 46,249,758	E746G	possibly damaging	Het
Dach1	A	G	14: 97,828,394		probably benign	Het
Dock11	G	T	X: 36,006,717	G1023W	possibly damaging	Het
Fbxo10	T	C	4: 45,044,754	D453G	probably damaging	Het
Fhad1	T	C	4: 142,011,644		probably benign	Het
Gm17415	A	G	1: 93,422,079		probably benign	Het
Gm4781	A	T	10: 100,396,645		noncoding transcript	Het
Gpatch2	A	C	1: 187,233,317		probably null	Het
Gpatch2	G	T	1: 187,233,318		probably null	Het
Greb1	A	G	12: 16,706,295		probably benign	Het
Greb1l	A	G	18: 10,542,362	Y1319C	probably damaging	Het
Kcnq2	T	A	2: 181,081,502	S694C	probably benign	Het
Krt35	C	A	11: 100,092,534	V448L	possibly damaging	Het
Lexm	A	T	4: 106,611,405		probably benign	Het
Lmo7	A	G	14: 101,933,924		probably benign	Het
Megf8	T	C	7: 25,355,793	S1984P	probably benign	Het
Nlrp1a	T	C	11: 71,123,401	Q341R	probably benign	Het
Olfr575	T	C	7: 102,954,711	T297A	possibly damaging	Het
Olfr59	T	A	11: 74,289,504	L286Q	probably damaging	Het
Osr1	C	T	12: 9,579,675	H183Y	probably damaging	Het
Paf1	T	C	7: 28,396,171	V202A	probably damaging	Het
Pde10a	A	G	17: 8,981,630	K1071E	probably benign	Het
Pwp2	T	C	10: 78,181,083	R268G	probably benign	Het
Rwdd1	T	A	10: 34,001,673	K178*	probably null	Het
Scn10a	A	T	9: 119,691,440		probably benign	Het
Sema3g	A	G	14: 31,221,519		probably null	Het
Slc22a6	C	A	19: 8,623,616	A391E	possibly damaging	Het
Slc41a3	G	A	6: 90,644,171	G372S	probably damaging	Het
Sqor	G	T	2: 122,799,770	K3N	probably damaging	Het
Srl	T	C	16: 4,492,380	Q495R	possibly damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stxbp3	G	T	3: 108,800,871	D371E	probably damaging	Het
Tnfrsf19	C	A	14: 61,024,210	V47F	probably damaging	Het
Usp11	A	T	X: 20,718,045	E622V	probably benign	Het
Vmn1r52	T	A	6: 90,179,144	Y143*	probably null	Het
Zfp280d	A	G	9: 72,322,445		probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zmat1	T	C	X: 134,973,272	T457A	probably 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
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
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	splice site	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
R8061:Ice1	UTSW	13	70603732	missense	probably damaging	1.00
R8129:Ice1	UTSW	13	70606201	missense	probably benign	0.02
R8283:Ice1	UTSW	13	70604430	missense	probably damaging	0.97
R8303:Ice1	UTSW	13	70606407	missense	probably benign	0.04
R8444:Ice1	UTSW	13	70604376	missense	probably damaging	1.00
R8474:Ice1	UTSW	13	70604447	missense	probably benign	0.42
R8751:Ice1	UTSW	13	70602891	missense	probably damaging	1.00
R8887:Ice1	UTSW	13	70602931	missense	probably damaging	1.00
R8911:Ice1	UTSW	13	70592668	missense
R8954:Ice1	UTSW	13	70610578	missense	probably damaging	1.00
R9345:Ice1	UTSW	13	70592639	missense
R9438:Ice1	UTSW	13	70606315	missense	probably benign	0.04
X0026:Ice1	UTSW	13	70592602	missense	probably damaging	1.00
Z1176:Ice1	UTSW	13	70605201	missense	probably damaging	1.00

Posted On

2015-04-16