Mutagenetix > Incidental Mutations

Incidental Mutation 'R8283:Ice1'

638334

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R8283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70604430 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1179 (E1179G)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably damaging
Transcript: ENSMUST00000043493
AA Change: E1179G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: E1179G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,806,086	P65S	probably damaging	Het
Adcy3	A	T	12: 4,200,935	R565W	probably damaging	Het
Arl14	A	T	3: 69,222,535	N5I	probably benign	Het
Arl6ip6	A	G	2: 53,192,238	E39G	possibly damaging	Het
Aven	C	T	2: 112,559,775	R8W	probably benign	Het
Axl	C	T	7: 25,763,954	D633N	probably benign	Het
Boc	A	T	16: 44,520,437	L50Q	noncoding transcript	Het
Calml3	A	G	13: 3,804,097	V36A	probably damaging	Het
Ccdc183	G	A	2: 25,612,148	A238V	probably damaging	Het
Ccndbp1	A	G	2: 121,008,584		probably benign	Het
Ccr9	A	G	9: 123,779,631	Y126C	probably damaging	Het
Cdhr1	T	C	14: 37,082,780	N491S	probably benign	Het
Celsr2	C	T	3: 108,396,455	G2429D	probably damaging	Het
Cts6	T	C	13: 61,201,643	T84A	probably damaging	Het
Dcpp2	T	C	17: 23,899,410		probably null	Het
Drosha	A	G	15: 12,890,501	I945V	possibly damaging	Het
Dsg1b	A	G	18: 20,391,906	Q133R	probably benign	Het
Enpp1	T	A	10: 24,674,656	E174D	probably benign	Het
Esrrb	A	G	12: 86,421,958	H15R	probably benign	Het
Fbxl12	T	C	9: 20,638,721	T213A	probably benign	Het
Fnbp4	C	A	2: 90,746,771	T149K	probably damaging	Het
Foxj1	A	T	11: 116,334,067	F158Y	probably benign	Het
Frrs1	A	G	3: 116,878,303	T17A	probably benign	Het
Gm10110	C	T	14: 89,898,241	V76M	noncoding transcript	Het
Hnrnpl	T	C	7: 28,814,272	V220A		Het
Iars2	T	A	1: 185,288,091	R949*	probably null	Het
Mast4	A	G	13: 102,758,669	L782P	probably damaging	Het
Mcmdc2	A	C	1: 9,934,038	K581T	possibly damaging	Het
Men1	A	T	19: 6,336,818	D186V	probably damaging	Het
Morc2b	T	G	17: 33,136,701	N699T	probably benign	Het
Mrgpra2b	A	G	7: 47,464,717	L89P	probably damaging	Het
Naip1	C	T	13: 100,427,187	G490E	probably damaging	Het
Ntm	T	C	9: 29,012,212	Y224C	probably damaging	Het
Nup88	A	T	11: 70,958,340	D262E	probably benign	Het
Olfr1113	T	C	2: 87,213,339	V149A	probably benign	Het
Olfr630	T	A	7: 103,754,812	I258L	possibly damaging	Het
Olfr921	G	A	9: 38,775,281	V9M	noncoding transcript	Het
Oscp1	A	G	4: 126,086,600	M293V	probably benign	Het
Pcdhgc3	C	A	18: 37,807,641	A365D	probably damaging	Het
Pcyt2	A	T	11: 120,610,722	F388I	probably benign	Het
Pgm2l1	C	G	7: 100,253,253	A136G	probably benign	Het
Phf14	T	G	6: 11,987,637	D638E	probably benign	Het
Pnpla7	A	G	2: 25,050,923	K1096E	probably damaging	Het
Prkcb	T	A	7: 122,600,725	C586*	probably null	Het
Rnf187	T	A	11: 58,938,415	R124W	probably damaging	Het
RP24-77E13.10	T	C	7: 7,241,902	Y11C	possibly damaging	Het
Sema3a	T	C	5: 13,400,063	Y36H	probably damaging	Het
Setd7	T	G	3: 51,521,375	S345R	probably benign	Het
Sgms1	T	C	19: 32,159,635	D177G	probably damaging	Het
Snx19	T	C	9: 30,463,226	L927S	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Sorl1	T	C	9: 42,030,998	D977G	probably damaging	Het
Sptan1	C	T	2: 29,980,200	R121W	probably damaging	Het
Srgap2	T	C	1: 131,364,033	D152G	probably damaging	Het
Suclg2	T	A	6: 95,497,719		probably null	Het
Tacc2	T	C	7: 130,625,304	S1240P	probably benign	Het
Tbc1d12	C	T	19: 38,836,909	A68V	probably benign	Het
Tex14	G	A	11: 87,474,415	D62N	probably damaging	Het
Thyn1	C	T	9: 27,006,859	T181I	probably benign	Het
Trio	T	A	15: 27,756,542	H2056L	possibly damaging	Het
Ubn2	T	A	6: 38,498,728	L1207Q	probably damaging	Het
Usp17lb	T	C	7: 104,840,806	S305G	probably damaging	Het
Vmn2r101	T	A	17: 19,611,991	Y750N	probably damaging	Het
Wif1	G	A	10: 121,096,047	S292N	probably benign	Het
Xpo6	T	G	7: 126,128,249	Q528H	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTCCACAGGGTTTGTATCG -3'
(R):5'- ACCCCTCAGATGTAGGTGATCTG -3'

Sequencing Primer
(F):5'- TTCCCCGGTCTTGGTGAGAAC -3'
(R):5'- CAGATGTAGGTGATCTGACCTCC -3'

Posted On

2020-07-28