Mutagenetix > Incidental Mutation

Incidental Mutation 'R7176:Ice1'

558635

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

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R7176 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 70624406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably null
Transcript: ENSMUST00000043493

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525

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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,324,277	H267N	probably benign	Het
Abtb2	A	G	2: 103,709,375	D695G	probably benign	Het
Adam21	C	T	12: 81,560,248	D247N	possibly damaging	Het
Adnp	T	C	2: 168,182,658	N906D	probably benign	Het
Ankrd17	A	T	5: 90,268,735	H1079Q	probably damaging	Het
Aqp3	T	A	4: 41,095,202	N60Y	probably damaging	Het
Art4	T	G	6: 136,857,168	T26P	probably benign	Het
Arvcf	T	C	16: 18,399,727	L553P	probably damaging	Het
Asxl1	T	A	2: 153,401,988	I1487N	probably damaging	Het
Capn3	A	T	2: 120,504,492	Y820F	possibly damaging	Het
Catip	A	G	1: 74,362,782	T39A	probably damaging	Het
Ccdc18	T	A	5: 108,168,106	C481S	probably benign	Het
Ccnf	A	G	17: 24,249,402	I7T	possibly damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cdkl4	A	T	17: 80,543,792	Y160*	probably null	Het
Celsr3	C	T	9: 108,845,762	P2783S	probably benign	Het
Cisd3	A	T	11: 97,686,133	D11V	probably benign	Het
Daxx	A	T	17: 33,913,318	H512L	unknown	Het
Dip2b	A	G	15: 100,169,318	H567R	probably damaging	Het
Dnah7c	C	A	1: 46,430,809	A18E	probably benign	Het
Eif3d	A	T	15: 77,963,234	V268D	probably damaging	Het
Eif4g3	T	A	4: 138,171,186	H1089Q	probably damaging	Het
Fmnl2	A	G	2: 53,114,150	M625V	unknown	Het
Foxn1	T	C	11: 78,360,867	R513G	possibly damaging	Het
Gemin5	C	T	11: 58,166,002	V134I	probably benign	Het
Gm8251	A	T	1: 44,060,346	S531T	probably benign	Het
Gtf2h3	A	G	5: 124,590,370	R161G	probably damaging	Het
Il1rl1	T	C	1: 40,446,606	Y306H	probably damaging	Het
Kbtbd7	A	T	14: 79,427,754	E342V	possibly damaging	Het
Kyat3	A	T	3: 142,737,839	K404N	possibly damaging	Het
Lins1	T	C	7: 66,713,805	W483R	probably benign	Het
Lipo2	A	G	19: 33,745,807	I194T	possibly damaging	Het
Mcm8	G	T	2: 132,820,072	A137S	probably benign	Het
Mdm1	C	A	10: 118,142,865	Q12K	probably damaging	Het
Mrgprb5	C	A	7: 48,168,311	L225F	possibly damaging	Het
Myh11	T	A	16: 14,215,826	H1068L		Het
Ngef	A	T	1: 87,480,695	V550E	possibly damaging	Het
Nrg1	G	A	8: 31,968,036	Q84*	probably null	Het
Obp2b	G	T	2: 25,737,748	V59L	possibly damaging	Het
Ocln	C	A	13: 100,515,082	G327C	probably damaging	Het
Ocln	A	C	13: 100,515,083	N326K	probably benign	Het
Olfr1117-ps1	C	T	2: 87,285,034	A248V	probably damaging	Het
Otogl	T	C	10: 107,778,911	D1960G	probably damaging	Het
Pik3c2a	T	C	7: 116,388,096	D530G	possibly damaging	Het
Plod1	A	T	4: 147,913,287	M655K	probably benign	Het
Ppp4r3b	A	G	11: 29,198,904	N449D	probably damaging	Het
Ppp6r3	G	T	19: 3,471,989	T563K	probably damaging	Het
Prepl	T	A	17: 85,069,026	L533F	probably benign	Het
Rbl1	G	A	2: 157,188,325	R421W	probably damaging	Het
Rrp15	G	A	1: 186,721,533	S239L	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Sbno1	A	G	5: 124,392,881	S815P	probably benign	Het
Scn7a	G	A	2: 66,676,288	T1419I	probably damaging	Het
Setdb1	A	G	3: 95,337,147		probably null	Het
Shpk	A	G	11: 73,222,988	H409R	probably benign	Het
Slamf6	A	C	1: 171,934,291	N93T	probably benign	Het
Slc27a4	A	G	2: 29,811,226	N343S	probably benign	Het
Slc35g1	T	A	19: 38,403,323	V351E	probably damaging	Het
Smcr8	A	T	11: 60,778,946	I307F	probably damaging	Het
Spats2l	T	C	1: 57,937,918	I305T	possibly damaging	Het
Speer4c	T	C	5: 15,711,538	T144A	probably benign	Het
Tbl3	G	A	17: 24,700,758	T774I	probably benign	Het
Ush2a	A	G	1: 188,537,728	H1724R	probably benign	Het
Vcan	A	G	13: 89,688,936	S2830P	probably benign	Het
Vmn2r27	T	A	6: 124,192,036	I712F	probably benign	Het
Wdr59	T	G	8: 111,492,756	Q223P		Het
Zfp28	T	A	7: 6,383,457	C22S	possibly damaging	Het
Zfp536	T	G	7: 37,480,851		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ATGGTGAGGAAATTTGCACCC -3'
(R):5'- TCCAGAGGAGTCACACAGTGAG -3'

Sequencing Primer
(F):5'- TTGCACCCAACAAAACAATTTTAGAG -3'
(R):5'- AGGTTTGCCCATTTCTGTTGAAG -3'

Posted On

2019-06-26