Mutagenetix > Incidental Mutation

Incidental Mutation 'R6518:Ice1'

520911

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

044645-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R6518 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70606309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 553 (F553I)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043493] [ENSMUST00000220637] [ENSMUST00000222568]

AlphaFold

E9Q286

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043493
AA Change: F553I

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: F553I

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

Meta Mutation Damage Score

0.1242

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,266,411	D88G	probably damaging	Het
Abcc12	A	G	8: 86,509,089			Het
Angptl6	T	C	9: 20,875,360	H330R	probably damaging	Het
Asxl3	T	A	18: 22,516,340	V462E	probably damaging	Het
Atp13a2	G	C	4: 141,000,854	R503P	possibly damaging	Het
C1ra	T	A	6: 124,521,575		probably null	Het
C2	T	A	17: 34,864,118	I426F	probably damaging	Het
C4b	A	T	17: 34,734,205	Y1049N	probably damaging	Het
Cdkn1b	T	A	6: 134,921,320	M134K	probably benign	Het
Cenpn	A	G	8: 116,937,165	D145G	possibly damaging	Het
Ckap2	A	T	8: 22,173,303	I492K	probably benign	Het
Cog2	G	A	8: 124,527,103	W67*	probably null	Het
Col7a1	T	C	9: 108,955,527	F172L	unknown	Het
Dcaf1	T	C	9: 106,835,589	I112T	probably damaging	Het
Ddx4	T	C	13: 112,604,547	I518V	probably benign	Het
Dnah10	T	C	5: 124,758,355	L908P	probably damaging	Het
Dsg3	T	C	18: 20,533,422	Y563H	probably benign	Het
Gm12394	A	G	4: 42,791,750	I794T	probably benign	Het
Gm16686	A	C	4: 88,755,488		probably benign	Het
Gpr139	A	T	7: 119,144,511	F284I	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Igkv6-29	T	A	6: 70,138,513	Q99L	probably damaging	Het
Lipt1	A	G	1: 37,875,775	N304S	probably benign	Het
Lmo1	A	C	7: 109,143,576	L39R	probably damaging	Het
Mcc	T	A	18: 44,661,811		probably benign	Het
Mindy3	T	C	2: 12,382,129	T74A	probably damaging	Het
Olfr1507	T	C	14: 52,490,620	I115V	probably damaging	Het
Olfr71	A	G	4: 43,706,334	V78A	probably benign	Het
Olfr96	G	T	17: 37,225,268	A48S	probably benign	Het
Ormdl1	T	C	1: 53,308,957	Y153H	probably benign	Het
Pdzrn3	A	T	6: 101,150,514	*1064K	probably null	Het
Pias1	A	G	9: 62,951,860	L113P	probably damaging	Het
Piezo2	A	T	18: 63,106,271	I514N	probably damaging	Het
Prkd1	T	C	12: 50,425,495	T212A	probably benign	Het
Rnf219	A	T	14: 104,479,065	L624H	probably damaging	Het
Rsph10b	A	G	5: 143,963,873	Y151C	probably damaging	Het
Samhd1	G	A	2: 157,114,297	T325M	possibly damaging	Het
Seh1l	A	G	18: 67,789,449	T291A	probably damaging	Het
Smim24	A	G	10: 81,393,861	M1V	probably null	Het
Sp140	TTTTTTTTTTTT	TTTTTTTTTTTTTTTTT	1: 85,644,570		probably benign	Het
Speer3	T	G	5: 13,795,448	I165S	possibly damaging	Het
Timm23	A	G	14: 32,201,637		probably null	Het
Tmem17	A	T	11: 22,517,427	Y75F	possibly damaging	Het
Tmem86b	A	T	7: 4,629,609	C85*	probably null	Het
Try5	A	G	6: 41,314,679	F6S	probably benign	Het
Vmn2r71	G	T	7: 85,621,228	C534F	probably damaging	Het
Vmn2r85	A	T	10: 130,429,412	D67E	probably benign	Het
Wars2	A	T	3: 99,216,800	M326L	probably benign	Het
Wdr70	A	T	15: 8,079,337	S108R	unknown	Het
Zfp677	A	G	17: 21,398,130	H483R	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
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
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'- TTACTGCAGACCGACACTGG -3'
(R):5'- TCTGTGCAAGTTGGGAAAGG -3'

Sequencing Primer
(F):5'- ACACTGGTACCGAGGTAGC -3'
(R):5'- CTGAAGCATAACAGAAAACTGTGGC -3'

Posted On

2018-06-06