Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03343:Ice1'

417347

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

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

IGL03343

Quality Score

Status

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70602929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1679 (L1679F)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably damaging
Transcript: ENSMUST00000043493
AA Change: L1679F

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

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: L1679F

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	A	7: 131,246,691	I858N	probably damaging	Het
Adamts17	A	G	7: 67,075,316	H795R	probably damaging	Het
Adgrl2	A	T	3: 148,859,380	I188K	probably damaging	Het
Adgrv1	A	G	13: 81,283,388	Y5974H	probably damaging	Het
Angpt4	A	G	2: 151,936,703	T336A	probably damaging	Het
Arhgap30	C	A	1: 171,409,094	T1012N	probably damaging	Het
Asl	A	T	5: 130,012,067	Y178N	probably damaging	Het
Brd1	C	A	15: 88,707,251	L714F	possibly damaging	Het
Ccdc129	T	G	6: 55,968,584	D763E	probably damaging	Het
Ccdc47	A	G	11: 106,204,962	S303P	probably damaging	Het
Cdk16	A	G	X: 20,695,759	K264E	probably damaging	Het
Cenpc1	A	T	5: 86,016,322	F813L	probably damaging	Het
Cfp	A	C	X: 20,928,009	F291C	possibly damaging	Het
Chordc1	T	G	9: 18,312,466	F276V	probably damaging	Het
Clic4	C	T	4: 135,218,578	R176H	possibly damaging	Het
Dusp27	T	C	1: 166,099,448	D865G	probably benign	Het
Fcer1a	T	G	1: 173,225,473	N52T	possibly damaging	Het
Fndc7	A	T	3: 108,867,308	C545S	probably damaging	Het
Frem2	T	C	3: 53,652,253	D1611G	probably damaging	Het
Fryl	G	A	5: 73,076,695	P1496S	probably benign	Het
Gga3	A	T	11: 115,592,486	N82K	probably damaging	Het
Gm43638	G	A	5: 87,460,625	P452S	possibly damaging	Het
Gpn1	T	C	5: 31,504,965	S244P	probably damaging	Het
Hspa12a	T	C	19: 58,799,396	S665G	probably benign	Het
Htt	A	G	5: 34,826,041	I995V	probably benign	Het
Iars	A	T	13: 49,724,747	I916L	probably benign	Het
Inpp1	A	T	1: 52,799,327	D54E	probably damaging	Het
Irf2bpl	T	C	12: 86,882,939	E320G	possibly damaging	Het
Kcnn2	T	C	18: 45,676,959	V421A	probably damaging	Het
Micu2	A	G	14: 57,917,311	V419A	probably benign	Het
Nek9	C	T	12: 85,303,609	C897Y	probably damaging	Het
Ofcc1	A	C	13: 40,072,664	H797Q	probably benign	Het
Olfr1024	T	C	2: 85,904,941	T38A	probably benign	Het
Olfr109	G	A	17: 37,466,409	D68N	probably damaging	Het
Olfr1388	C	A	11: 49,444,243	H131N	probably damaging	Het
Olfr822	T	G	10: 130,075,256	L282R	probably damaging	Het
Pakap	C	T	4: 57,688,502	T115M	probably damaging	Het
Papss1	G	A	3: 131,583,189	G151S	probably benign	Het
Plxnb1	A	G	9: 109,114,712	T1956A	probably damaging	Het
Pomt1	A	G	2: 32,253,712		probably benign	Het
Ppfibp2	T	A	7: 107,737,919	Y570*	probably null	Het
Ppp1r9a	A	G	6: 5,046,015	E493G	probably damaging	Het
Ptk2b	A	G	14: 66,169,421	F621L	probably benign	Het
Ptpn13	G	T	5: 103,554,950	D1261Y	possibly damaging	Het
Ptprd	C	T	4: 76,059,729	G181D	probably damaging	Het
Rabgap1l	T	C	1: 160,443,283	T645A	probably benign	Het
Slc2a7	T	C	4: 150,168,340	I479T	probably damaging	Het
Smc3	A	G	19: 53,613,842	N40S	probably damaging	Het
Spata31	A	T	13: 64,919,773	D83V	probably benign	Het
Sptb	C	T	12: 76,583,556		probably benign	Het
Ssc4d	A	T	5: 135,961,174	C493*	probably null	Het
Ubr2	C	A	17: 46,951,918	V1256L	probably benign	Het
Ubr3	T	C	2: 69,973,146		probably benign	Het
Vmn2r105	C	T	17: 20,226,369	W456*	probably null	Het
Vmn2r24	T	A	6: 123,816,111	I799N	probably damaging	Het
Vps13b	G	A	15: 35,917,170	G3720D	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
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

2016-08-02