Mutagenetix > Incidental Mutations

Incidental Mutation 'R8954:Ice1'

681870

Institutional Source

Beutler Lab

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 #

R8954 (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 70610578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 215 (N215S)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably damaging
Transcript: ENSMUST00000043493
AA Change: N215S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: N215S

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	A	T	7: 118,794,578	T450S	possibly damaging	Het
9930021J03Rik	A	T	19: 29,718,726	N1122K	possibly damaging	Het
Accsl	T	A	2: 93,857,954	Y445F	probably benign	Het
Actn4	T	C	7: 28,895,158	D815G	probably damaging	Het
Adam4	T	C	12: 81,420,372	S492G	possibly damaging	Het
Anapc2	A	G	2: 25,280,478	K643E	probably benign	Het
Ankfy1	T	A	11: 72,750,491	I630K	possibly damaging	Het
Arhgap24	A	G	5: 102,892,270	T361A	probably benign	Het
Arhgef28	T	C	13: 97,929,633	M1571V	probably benign	Het
Arid5b	A	C	10: 68,101,980	V196G	possibly damaging	Het
Art2b	C	A	7: 101,579,903		probably null	Het
Asxl3	G	A	18: 22,517,750	R932H	probably damaging	Het
B3galnt1	T	C	3: 69,575,340	N196S	possibly damaging	Het
C5ar2	C	A	7: 16,237,808	V65F	possibly damaging	Het
Cfap54	A	T	10: 93,043,393	L403Q	probably damaging	Het
Cfap74	G	A	4: 155,436,730	E620K		Het
Chac1	C	T	2: 119,353,355	A146V	probably damaging	Het
Cpne2	T	A	8: 94,558,146	S317T	probably damaging	Het
Cux1	T	A	5: 136,373,349	K138*	probably null	Het
Cwc22	T	A	2: 77,924,593	Y214F	probably damaging	Het
Cyp2c39	A	T	19: 39,536,753	T167S	probably benign	Het
Cyp4a12a	T	A	4: 115,328,738	Y414*	probably null	Het
Dap3	A	T	3: 88,928,263	D256E	probably damaging	Het
Dmxl2	C	T	9: 54,473,872	S110N	probably benign	Het
Dnhd1	A	T	7: 105,694,779	I1777L	probably benign	Het
Ecel1	G	A	1: 87,148,627	Q717*	probably null	Het
Eif3j2	G	A	18: 43,477,634	T38M	possibly damaging	Het
Fam205c	G	T	4: 42,871,753	D207E	probably damaging	Het
Fat3	T	C	9: 16,376,568	H553R	probably benign	Het
Fcho2	T	C	13: 98,777,477	D204G	probably benign	Het
Frmpd1	A	T	4: 45,284,702	E1174D	probably benign	Het
Gabra6	T	A	11: 42,315,132	Y299F	probably damaging	Het
Gak	G	A	5: 108,629,652		probably benign	Het
Gapdhs	T	A	7: 30,733,166	H214L	probably damaging	Het
Gapvd1	T	C	2: 34,678,098	Y1418C	probably damaging	Het
Gk5	C	A	9: 96,177,509	D471E	probably benign	Het
Glg1	A	G	8: 111,187,895	M419T	probably damaging	Het
Gm11639	T	G	11: 105,018,699		probably null	Het
Hist3h2a	T	A	11: 58,954,959	N74K	possibly damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ifitm10	T	C	7: 142,328,563	N157D	probably benign	Het
Itga11	A	G	9: 62,769,263	D911G	possibly damaging	Het
Kcnt1	A	G	2: 25,894,326	N247S	probably benign	Het
Kirrel	T	C	3: 87,089,866	T265A	probably benign	Het
Klhl29	A	T	12: 5,137,542	L274H	possibly damaging	Het
Kmt2b	T	G	7: 30,574,215	T2326P	probably damaging	Het
Lcn11	A	G	2: 25,779,253	S141G	probably benign	Het
Ldb3	T	C	14: 34,555,344	R358G	probably null	Het
Ldlr	G	A	9: 21,739,532	D446N	possibly damaging	Het
Lipt2	T	C	7: 100,160,242	F179L	probably damaging	Het
Lmbrd1	G	T	1: 24,706,040	V154F	possibly damaging	Het
Malrd1	A	G	2: 15,551,367	I99V		Het
Map1b	T	A	13: 99,434,227	E662V	unknown	Het
Mfsd11	T	C	11: 116,859,336	S100P	probably damaging	Het
Mgst1	C	T	6: 138,142,969		probably benign	Het
Mtf1	T	A	4: 124,804,856	V49D	probably damaging	Het
Mtss1	T	C	15: 58,955,137	D236G	probably damaging	Het
Myct1	C	T	10: 5,604,208	T25I	probably damaging	Het
Myh4	T	A	11: 67,252,980	F1089I	possibly damaging	Het
Nrxn1	A	T	17: 90,590,187	I835K	probably damaging	Het
Nsd3	T	A	8: 25,673,378	S595T	probably damaging	Het
Nt5c2	A	T	19: 46,888,922	S527T	probably damaging	Het
Olfr1066	C	A	2: 86,455,548	C241F	probably damaging	Het
Olfr195	T	A	16: 59,148,956	Y35*	probably null	Het
Olfr554	T	C	7: 102,640,675	V143A	probably benign	Het
Olfr661	T	A	7: 104,688,693	L226*	probably null	Het
Olfr869	A	T	9: 20,137,368	D84V	probably damaging	Het
Osbpl8	A	G	10: 111,272,192	S350G	probably benign	Het
Otoa	G	A	7: 121,145,518	W833*	probably null	Het
Pcdhga6	T	G	18: 37,708,487	I420S	probably damaging	Het
Pmfbp1	A	C	8: 109,531,801	M666L	probably benign	Het
Pola2	T	G	19: 5,948,424	D370A	probably damaging	Het
Ppip5k1	C	G	2: 121,323,220		probably benign	Het
Ppp1r12b	A	T	1: 134,834,462	D815E	probably benign	Het
Ppp4r3b	T	A	11: 29,205,669	V545E	possibly damaging	Het
Ptpn23	A	T	9: 110,392,500	N177K	probably damaging	Het
Rad9b	A	T	5: 122,344,230	S147R	probably benign	Het
Rps20	T	A	4: 3,834,617	M82L	probably benign	Het
Samd9l	C	T	6: 3,374,577	V895I	probably damaging	Het
Sbf2	T	A	7: 110,438,911	K396*	probably null	Het
Sbno2	G	T	10: 80,057,962	Q1198K	probably damaging	Het
Scp2d1	C	T	2: 144,823,966	T75I	probably damaging	Het
Shank3	T	A	15: 89,549,228	I1392N	possibly damaging	Het
Sidt1	A	G	16: 44,262,027	F532L	probably benign	Het
Smchd1	A	T	17: 71,448,757	V243D	probably damaging	Het
Smg1	T	C	7: 118,206,992	R185G	probably damaging	Het
Spag16	C	T	1: 69,996,845	S344F		Het
Spsb3	A	G	17: 24,891,519	D440G	probably damaging	Het
Themis	A	C	10: 28,789,713	S591R	probably benign	Het
Trpm1	G	A	7: 64,208,341	V177I	probably damaging	Het
Usp37	A	G	1: 74,474,984		probably null	Het
Vmn1r171	C	T	7: 23,633,100	T238I	probably damaging	Het
Vmn2r33	T	C	7: 7,551,656	M633V	probably benign	Het
Vmn2r93	T	A	17: 18,325,990	L708H	probably damaging	Het
Wdr53	T	A	16: 32,256,655	V226E	probably damaging	Het
Wdr62	T	A	7: 30,254,029	I193F	probably damaging	Het
Zfp607b	T	A	7: 27,703,962	D614E	probably benign	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
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
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'- AGGCTGACAGTTATCTGCTGG -3'
(R):5'- CAAACAAGCCTATGTCGAGTC -3'

Sequencing Primer
(F):5'- CTGGGGTTTAGAGTCACACTCC -3'
(R):5'- AACAAGCCTATGTCGAGTCTTGGG -3'

Posted On

2021-08-31