Mutagenetix > Incidental Mutation

Incidental Mutation 'R9345:Ice1'

707770

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: 0.946) question?

Stock #

R9345 (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 G at 70592639 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 80 (F80L)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably damaging
Transcript: ENSMUST00000043493
AA Change: F2150L

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

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: F2150L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,819,430	I837F	probably damaging	Het
Acot3	A	G	12: 84,057,092	Y225C	probably benign	Het
Adam17	A	G	12: 21,328,055	V710A	probably damaging	Het
Ank3	A	G	10: 69,926,069		probably benign	Het
Ankrd60	T	A	2: 173,568,817	K303N	possibly damaging	Het
Atp10b	T	A	11: 43,203,197	S523T	probably damaging	Het
Bptf	A	G	11: 107,080,762	V973A	possibly damaging	Het
Ccdc24	C	T	4: 117,872,494	W9*	probably null	Het
Ccdc82	A	G	9: 13,281,401	T439A	probably benign	Het
Ccne2	C	A	4: 11,199,420	Q274K	probably benign	Het
Clec11a	T	C	7: 44,306,765	M1V	probably null	Het
Col12a1	T	A	9: 79,633,735	Y2370F	probably benign	Het
Cyp4a32	C	T	4: 115,610,502	H228Y	probably benign	Het
Dchs2	G	A	3: 83,128,794	G283S	probably benign	Het
Dis3	T	C	14: 99,081,378	T659A	probably damaging	Het
Dock5	T	C	14: 67,822,622	D456G	possibly damaging	Het
Efr3b	T	A	12: 3,983,409	K249*	probably null	Het
Emilin2	C	T	17: 71,274,544	V396I	probably benign	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fasn	A	T	11: 120,815,909	S947T	probably benign	Het
Fryl	C	T	5: 73,050,411	C2472Y	probably benign	Het
Gm3159	A	T	14: 4,398,488	I60L	probably benign	Het
Gm3402	A	T	5: 146,514,520	N63Y	probably damaging	Het
Gm49355	C	T	14: 12,296,641		probably benign	Het
Grm2	A	G	9: 106,651,088	L199P	probably damaging	Het
Hck	T	A	2: 153,150,984	H470Q	probably benign	Het
Hsd17b4	T	C	18: 50,166,914	Y413H	probably benign	Het
Ifrd1	G	A	12: 40,217,459	P38S	possibly damaging	Het
Itgad	A	G	7: 128,189,307	T431A	probably benign	Het
Kcnd3	A	T	3: 105,658,687	I395F	probably damaging	Het
Kif20a	A	G	18: 34,626,726	E58G	probably benign	Het
Kras	A	T	6: 145,246,716	D30E	probably benign	Het
Lmbrd1	C	T	1: 24,685,512	A59V	probably damaging	Het
Lrrc20	T	C	10: 61,548,111	L99P	probably damaging	Het
Mfn2	T	C	4: 147,882,192	D514G	probably benign	Het
Myl2	A	G	5: 122,104,839	E96G	probably damaging	Het
Nppb	T	G	4: 147,986,061	L29R	probably damaging	Het
Olfr585	C	T	7: 103,098,506	A255V	possibly damaging	Het
Olfr992	A	G	2: 85,399,753	V260A	probably benign	Het
Pcdhb14	A	G	18: 37,448,228	H129R	probably damaging	Het
Pex11g	T	C	8: 3,459,363	N188S	possibly damaging	Het
Pla2g3	A	G	11: 3,492,170	D410G	probably benign	Het
Pnma1	C	A	12: 84,147,458	W157L	probably benign	Het
Pofut2	A	G	10: 77,267,256	Y362C	probably damaging	Het
Ppp1r14c	C	A	10: 3,423,567	S126*	probably null	Het
Psg27	T	C	7: 18,565,156	H80R	probably benign	Het
Rere	T	A	4: 150,470,313	V156D	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Samd8	G	A	14: 21,780,159	V281I	probably benign	Het
Scarf1	A	G	11: 75,513,575		probably benign	Het
Scgb2b27	A	G	7: 34,013,297	L40P	probably benign	Het
Sdk1	A	T	5: 142,161,953	H1780L	probably benign	Het
Slc10a6	T	C	5: 103,606,655	T337A	probably benign	Het
Slc44a4	A	T	17: 34,921,243	D208V	probably benign	Het
Slco1c1	G	T	6: 141,547,827	C363F	probably benign	Het
Smg5	T	A	3: 88,354,541	L707Q	probably damaging	Het
Supt5	A	T	7: 28,316,987	D789E	probably benign	Het
Tbcd	A	G	11: 121,573,822	Y561C	probably damaging	Het
Tectb	T	C	19: 55,194,665	L316P	probably benign	Het
Thrsp	T	C	7: 97,417,119	T129A	possibly damaging	Het
Tnpo3	T	C	6: 29,558,852	H693R	probably benign	Het
Trim54	T	G	5: 31,137,134	D335E	probably benign	Het
Tsr1	A	G	11: 74,899,300	D107G	probably benign	Het
Ttc41	A	T	10: 86,759,225	E954D	probably damaging	Het
Ttn	A	G	2: 76,708,251	L34701P	possibly damaging	Het
Vmn1r119	A	C	7: 21,012,109	V116G	probably damaging	Het
Vmn1r219	G	A	13: 23,162,599		probably benign	Het
Zc3h12c	T	A	9: 52,116,710	M470L	probably benign	Het
Zmynd8	T	C	2: 165,812,748	K615E	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
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
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'- AGCAACTGACCCTTGAAGATAC -3'
(R):5'- AGCTGTCTCACTGAGTGGTAG -3'

Sequencing Primer
(F):5'- GCAACTGACCCTTGAAGATACAACAC -3'
(R):5'- TGGTAGCCCACACTGCAC -3'

Posted On

2022-04-18