Mutagenetix > Incidental Mutation

Incidental Mutation 'R8751:Ice1'

663867

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

068594-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R8751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70602891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1692 (V1692E)

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: V1692E

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

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: V1692E

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

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,215,727	I278N	probably damaging	Het
Adcy9	A	G	16: 4,311,628	W702R	probably damaging	Het
Adgrf5	G	A	17: 43,437,683	V468I	possibly damaging	Het
Ahnak	A	C	19: 9,010,145	K2931T	probably damaging	Het
Ank3	C	T	10: 69,926,019		probably benign	Het
Birc6	G	A	17: 74,648,140	V3480I	probably damaging	Het
Bpifa5	A	T	2: 154,165,512	I125L	probably benign	Het
Catsperg2	T	C	7: 29,705,319	D773G	possibly damaging	Het
Ccm2l	A	T	2: 153,067,775	I16F	probably benign	Het
Cep72	G	A	13: 74,050,184	S359F	possibly damaging	Het
Col1a1	A	G	11: 94,947,274	N844S	unknown	Het
Col7a1	C	T	9: 108,967,662	P1623S	possibly damaging	Het
Crybg1	T	C	10: 44,004,842	K117E	probably benign	Het
Csmd3	A	G	15: 47,982,006	C54R		Het
Dlg1	A	G	16: 31,781,830	T211A	probably benign	Het
Emc1	C	A	4: 139,369,968	H724N	possibly damaging	Het
Epg5	A	C	18: 77,965,008	N784H	probably benign	Het
Epg5	A	T	18: 77,965,009	N784I	possibly damaging	Het
Epg5	T	A	18: 77,965,010	N784K	probably benign	Het
Erc2	A	G	14: 28,080,188	E771G	possibly damaging	Het
Exo1	T	C	1: 175,892,112	V241A	probably benign	Het
Fat4	A	G	3: 38,891,853	T1632A	probably benign	Het
Fbxo21	T	A	5: 118,002,062	M529K	probably damaging	Het
Fhad1	T	C	4: 141,918,823	E276G	probably benign	Het
Frem1	G	A	4: 82,970,778	T1069I	probably damaging	Het
Gapvd1	A	C	2: 34,678,066	F1429V	probably damaging	Het
Gbp9	T	C	5: 105,081,251	E510G	possibly damaging	Het
Gm17087	A	T	17: 8,566,678	H64Q	probably damaging	Het
Gm19965	A	T	1: 116,822,137	Y516F	unknown	Het
Hdac5	A	T	11: 102,218,454	I38N	probably benign	Het
Hectd4	T	A	5: 121,363,775	C4190*	probably null	Het
Helb	A	T	10: 120,089,507	D988E	probably benign	Het
Herc6	C	T	6: 57,662,374	S909L	probably damaging	Het
Ino80	A	G	2: 119,406,908	Y1107H	probably benign	Het
Kif9	A	T	9: 110,501,656	Y350F	probably benign	Het
Lct	T	A	1: 128,293,797	T1570S	probably benign	Het
Lias	T	A	5: 65,399,850	N203K	probably benign	Het
Lrrtm4	A	G	6: 80,022,109	N168S	probably damaging	Het
Ltf	A	T	9: 111,031,124	K538*	probably null	Het
Lysmd4	A	G	7: 67,226,039	D150G	probably benign	Het
Magi2	A	G	5: 20,534,464	D572G	probably benign	Het
Meiob	T	C	17: 24,828,034		probably null	Het
Mettl11b	T	A	1: 163,717,169	T82S	probably benign	Het
Ncor2	T	C	5: 125,038,900	Y130C		Het
Ofcc1	A	G	13: 40,255,596	S118P	probably benign	Het
Olfr1512	A	G	14: 52,372,963	F30S	probably benign	Het
Olfr315	A	G	11: 58,778,387	T87A	probably benign	Het
Olfr922	T	A	9: 38,816,039	C179S	probably damaging	Het
Parp14	A	T	16: 35,856,811	M929K	probably benign	Het
Pcdh8	T	C	14: 79,768,789	E778G	probably benign	Het
Pgls	T	C	8: 71,595,194	V211A	probably benign	Het
Pkd2	T	A	5: 104,489,285	M588K	probably damaging	Het
Pms1	T	C	1: 53,192,110	N860S	probably benign	Het
Psg19	C	T	7: 18,796,963	V89M	probably benign	Het
Reln	T	C	5: 21,942,674	H2426R	probably benign	Het
Ripor2	T	A	13: 24,701,067	N428K	possibly damaging	Het
Slc12a4	C	T	8: 105,949,653		probably null	Het
Slc25a3	T	C	10: 91,117,098	I314V	probably benign	Het
Slc29a1	C	A	17: 45,589,762	V125F	probably benign	Het
Slc9a5	T	A	8: 105,359,349	C583S	probably damaging	Het
Slco2b1	G	A	7: 99,660,052	Q691*	probably null	Het
Smg7	T	C	1: 152,843,378	D874G	probably damaging	Het
Spef2	T	A	15: 9,729,637	K132*	probably null	Het
Tap1	A	G	17: 34,193,159	K446R	probably benign	Het
Tcam1	A	T	11: 106,285,617	T390S	possibly damaging	Het
Tnik	A	G	3: 28,611,908	N687D	probably damaging	Het
Trim42	T	C	9: 97,369,799	R16G	possibly damaging	Het
Vcp	A	C	4: 42,984,658	L411W	probably damaging	Het
Vma21-ps	C	A	4: 52,496,973	G91V	probably damaging	Het
Vmn1r23	T	C	6: 57,926,467	T109A	probably benign	Het
Vmn2r67	C	T	7: 85,152,242	C162Y	probably benign	Het
Vmn2r-ps117	A	G	17: 18,823,759	T366A	probably benign	Het
Zfp804a	A	G	2: 82,235,846	K54E	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- CACCTTTCCATCCACAGTGG -3'
(R):5'- ACTGTCTCCTCTGGTACCAAAC -3'

Sequencing Primer
(F):5'- TCCACAGTGGAGCCTCG -3'
(R):5'- AAACTCTGGTCCGTCCTCAAGG -3'

Posted On

2021-03-08