Mutagenetix > Incidental Mutations

Incidental Mutation 'R8444:Ice1'

654405

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 #

R8444 (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 70604376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1197 (E1197G)

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: E1197G

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

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: E1197G

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: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	G	T	11: 70,236,929	R56S	possibly damaging	Het
1700013F07Rik	A	G	3: 108,544,068	H115R	probably benign	Het
Abca14	T	A	7: 120,318,910	I1545K	probably damaging	Het
Abca3	A	G	17: 24,383,985	Y518C	probably damaging	Het
Abcd2	A	G	15: 91,174,636	V535A	probably benign	Het
Adcy9	T	C	16: 4,288,623	T1113A	probably damaging	Het
Afdn	A	T	17: 13,883,800	N1133Y	probably benign	Het
Aip	T	A	19: 4,116,034	D139V	probably damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Aldh16a1	G	A	7: 45,149,691	P56S	probably benign	Het
Alpk3	A	C	7: 81,057,720	T31P	probably benign	Het
Aoc3	G	T	11: 101,341,747	R466S	unknown	Het
Atoh1	T	C	6: 64,729,657	L112P	probably benign	Het
Atp2b2	T	A	6: 113,793,811	N424I	probably benign	Het
Brms1	T	C	19: 5,041,492		probably null	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cd34	T	A	1: 194,958,500	S224R	probably benign	Het
Cdh20	T	A	1: 104,970,858	F437I	probably benign	Het
Cdkal1	A	T	13: 29,326,104	V557E	probably benign	Het
Chst5	T	C	8: 111,890,763	H75R	probably damaging	Het
Col5a2	A	T	1: 45,396,145	N713K	probably benign	Het
Cpne5	A	T	17: 29,188,383	M181K	probably benign	Het
Cpt1a	T	C	19: 3,381,981	F731S	probably benign	Het
Cyfip1	A	G	7: 55,872,154	M69V	possibly damaging	Het
Dennd3	A	G	15: 73,570,823	K1232E	probably benign	Het
Dennd4b	A	T	3: 90,273,952	H805L	probably benign	Het
Dnm1l	C	T	16: 16,341,042	R108Q	probably damaging	Het
Dsc1	T	A	18: 20,089,579	D612V	probably benign	Het
Ephb2	C	T	4: 136,661,400	G628R	probably damaging	Het
Esrrb	G	A	12: 86,505,821	R195H	probably benign	Het
Flg2	A	T	3: 93,200,278	E23D	probably damaging	Het
Gja8	A	G	3: 96,919,674	L224P	probably damaging	Het
Hps6	T	G	19: 46,005,428	S601R	possibly damaging	Het
Ifnar2	C	A	16: 91,403,969	A366D	possibly damaging	Het
Ighm	A	C	12: 113,421,193	S347A		Het
Immt	C	T	6: 71,871,508	R494*	probably null	Het
Irs2	A	G	8: 11,006,683	V583A	probably damaging	Het
Kcnk4	T	C	19: 6,926,140	E347G	probably damaging	Het
Kif5b	T	A	18: 6,213,245	I716F	probably benign	Het
Klhl1	T	A	14: 96,517,890	D143V	probably benign	Het
Lrp1b	T	C	2: 40,870,260	T2999A		Het
Map3k9	A	G	12: 81,722,196	L1026P	probably damaging	Het
Mtg1	T	C	7: 140,138,370	V54A	probably damaging	Het
Mx1	G	T	16: 97,451,487	C231*	probably null	Het
Olfr1129	G	A	2: 87,575,739	M218I	probably benign	Het
Olfr478	C	A	7: 108,031,863	W160L	probably benign	Het
Olfr507	A	G	7: 108,621,820	I3V	probably benign	Het
Olfr680-ps1	A	G	7: 105,090,958	V227A	probably damaging	Het
Olfr808	T	A	10: 129,767,925	V143E	probably damaging	Het
Otogl	T	A	10: 107,857,114	E836D	probably benign	Het
Pde6d	A	G	1: 86,543,528	S143P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pon1	C	T	6: 5,177,327	W194*	probably null	Het
Rbm25	T	A	12: 83,664,251	S379R	unknown	Het
Rnf111	A	T	9: 70,457,941	S415T	probably benign	Het
Shoc2	A	G	19: 53,988,072	Y131C	probably damaging	Het
Slc17a2	A	T	13: 23,819,078	H237L	probably benign	Het
Slc23a1	T	A	18: 35,624,436	M261L	possibly damaging	Het
Slc35d1	G	C	4: 103,214,699	I35M		Het
Slc8b1	C	T	5: 120,513,138		probably benign	Het
Smr3a	A	C	5: 88,004,752	L8F	unknown	Het
Snx8	G	A	5: 140,358,174	R96C	possibly damaging	Het
Srgap3	A	G	6: 112,775,548	V325A	possibly damaging	Het
Stk40	A	G	4: 126,118,334	T10A	probably benign	Het
Tmem177	A	T	1: 119,910,220	V243D	probably benign	Het
Trim6	G	A	7: 104,232,672	V403M	probably damaging	Het
Ttc25	G	T	11: 100,561,905		probably null	Het
Tysnd1	A	G	10: 61,696,171	R201G	probably benign	Het
Vmn2r67	A	T	7: 85,136,646	F717Y	probably benign	Het
Vmn2r72	A	G	7: 85,738,175	V727A	probably benign	Het
Wdr49	A	C	3: 75,451,690	D43E	probably benign	Het
Zbtb8b	A	G	4: 129,432,631	V247A	probably benign	Het
Zfp532	C	A	18: 65,624,259	A421E	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
R8283:Ice1	UTSW	13	70604430	missense	probably damaging	0.97
R8303:Ice1	UTSW	13	70606407	missense	probably benign	0.04
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'- TCTGTCAGATCTTCGGCTGC -3'
(R):5'- AGCTTTCTACATCAGAGGTGGTTATG -3'

Sequencing Primer
(F):5'- GTGATGCGTACTTTCAAGCAATGC -3'
(R):5'- CAGAGGTGGTTATGGTTCTTGAAAG -3'

Posted On

2020-10-20