Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02794:Ice1'

359910

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: 0.954) question?

Stock #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70609159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 236 (S236C)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043493
AA Change: S236C

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: S236C

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: ENSMUST00000222568

Predicted Effect

probably benign
Transcript: ENSMUST00000222627

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,402,411	C1082S	probably benign	Het
Akt2	G	T	7: 27,629,381	R176L	probably benign	Het
Aldh16a1	A	G	7: 45,145,594	Y484H	probably damaging	Het
Apeh	A	G	9: 108,092,010	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,244,086	M481V	probably benign	Het
Atraid	G	A	5: 31,052,870	S135N	probably damaging	Het
Camta2	C	T	11: 70,675,658	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,171,748	N545S	probably benign	Het
Cic	A	G	7: 25,285,644	D1105G	probably damaging	Het
Crisp1	A	T	17: 40,313,066	M4K	unknown	Het
Crnkl1	C	T	2: 145,930,612	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,936,551	C114S	probably benign	Het
Dsc2	A	T	18: 20,041,731	Y496N	probably damaging	Het
Dst	T	C	1: 34,270,829	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,268,120	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928	N767S	probably benign	Het
Gm1527	A	G	3: 28,895,680	T30A	unknown	Het
Gorasp2	C	A	2: 70,679,494	Y166*	probably null	Het
Gucy2c	T	A	6: 136,713,148	Q744L	probably damaging	Het
Heg1	A	T	16: 33,726,622	N593I	probably damaging	Het
Il12b	T	C	11: 44,407,981	Y88H	probably damaging	Het
Izumo3	C	T	4: 92,146,963	V6I	probably benign	Het
Kcna6	A	G	6: 126,738,552	V458A	probably damaging	Het
Kif13b	G	A	14: 64,803,440	R1659Q	probably benign	Het
Klk1b1	A	G	7: 43,970,365	D116G	possibly damaging	Het
Lama2	T	C	10: 27,041,231	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,651,879	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,791,935	E1083G	probably damaging	Het
Mfsd11	T	A	11: 116,859,351	S105T	probably damaging	Het
Mga	T	A	2: 119,946,289	I1768N	possibly damaging	Het
Mical3	C	A	6: 121,007,309	G202V	probably damaging	Het
Mylk	A	T	16: 34,986,541	I1719F	probably benign	Het
Nusap1	T	A	2: 119,630,386	F120Y	possibly damaging	Het
Olfr1079	T	C	2: 86,538,148	T256A	possibly damaging	Het
Olfr671	T	A	7: 104,975,389	M203L	probably benign	Het
Olfr923	T	A	9: 38,828,215	C175S	probably damaging	Het
Pidd1	T	C	7: 141,443,108	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,654,571	M671L	probably benign	Het
Ppp5c	A	G	7: 17,006,960	V361A	probably benign	Het
Prune2	T	C	19: 17,119,361	V743A	probably benign	Het
Siglec1	C	A	2: 131,075,969	S996I	possibly damaging	Het
Slc12a7	A	G	13: 73,809,087	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,909,508	Y537*	probably null	Het
Smarca4	T	A	9: 21,673,342		probably benign	Het
Smg6	C	T	11: 75,053,934	P1109S	probably damaging	Het
Sorl1	T	A	9: 42,063,774	N513Y	probably damaging	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Trim72	T	C	7: 128,004,532	C17R	probably damaging	Het
Ttc3	T	C	16: 94,467,926	C1956R	probably damaging	Het
Vmn1r211	C	A	13: 22,852,206	S97I	probably damaging	Het
Vmn1r211	T	A	13: 22,852,207	S97C	probably damaging	Het
Vmn1r211	G	T	13: 22,852,209	T96N	possibly damaging	Het
Vmn2r66	A	T	7: 84,995,415	S596T	probably benign	Het
Zfp609	A	G	9: 65,704,320	S454P	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
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
R9452:Ice1	UTSW	13	70596343	missense	probably damaging	1.00
X0026:Ice1	UTSW	13	70592602	missense	probably damaging	1.00
Z1176:Ice1	UTSW	13	70605201	missense	probably damaging	1.00

Posted On

2015-12-18