Mutagenetix > Incidental Mutation

Incidental Mutation 'R7032:Ice1'

546404

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 #

R7032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70596164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 2100 (N2100S)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably damaging
Transcript: ENSMUST00000043493
AA Change: N2100S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: N2100S

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	T	G	8: 45,956,437	S282R	probably damaging	Het
2310003L06Rik	T	A	5: 87,972,579	D398E	possibly damaging	Het
Adam34	T	C	8: 43,652,266	Y114C	probably damaging	Het
Akap9	T	A	5: 3,954,896	D156E	probably benign	Het
Apba1	T	A	19: 23,912,461	S408T	probably benign	Het
Asb14	C	T	14: 26,903,455	H256Y	probably benign	Het
Atf6	A	T	1: 170,799,612		probably null	Het
Atp6v1b2	T	A	8: 69,088,896	V35E	probably benign	Het
Atp8a2	T	C	14: 60,017,840		probably null	Het
Ccdc170	C	A	10: 4,482,597	P12Q	unknown	Het
Cdh23	C	T	10: 60,331,788	E1810K	probably damaging	Het
Cdo1	A	T	18: 46,720,408	F94L	probably damaging	Het
Chdh	C	T	14: 30,036,852	P585S	possibly damaging	Het
Clasp2	A	G	9: 113,854,323	N407S	probably benign	Het
Clca3a1	T	A	3: 144,747,568	S465C	probably benign	Het
Clip2	C	A	5: 134,522,630	V213L	probably damaging	Het
Col6a6	A	G	9: 105,767,508	S1194P	probably damaging	Het
Cyp7a1	T	C	4: 6,268,463	T421A	possibly damaging	Het
Dhh	C	T	15: 98,894,026	G367E	possibly damaging	Het
Dnah5	A	G	15: 28,326,650	N2002D	probably damaging	Het
Epn2	T	A	11: 61,546,702	N15Y	probably damaging	Het
Evi5	A	C	5: 107,788,281	V647G	probably benign	Het
Eya1	T	C	1: 14,283,200		probably null	Het
Fam120a	A	G	13: 48,949,113	V222A	probably benign	Het
Fastkd5	A	T	2: 130,615,944	I242K	possibly damaging	Het
Hnrnpul1	A	G	7: 25,750,894	M131T	probably benign	Het
Ifi205	T	A	1: 174,028,350	D38V	possibly damaging	Het
Klhl9	G	A	4: 88,721,606	Q133*	probably null	Het
Krt84	T	C	15: 101,528,489	E370G	probably benign	Het
Lrrc4c	T	C	2: 97,629,065	I12T	probably benign	Het
Lrriq4	T	A	3: 30,655,701	L398*	probably null	Het
Ltf	G	A	9: 111,026,130		probably null	Het
Macf1	C	T	4: 123,472,308	V1322I	probably benign	Het
Mark2	T	A	19: 7,287,333	I112L	probably damaging	Het
Mterf2	A	T	10: 85,120,663	C32*	probably null	Het
Myo3b	C	T	2: 70,095,264	T25I	probably damaging	Het
Nsun7	A	C	5: 66,264,035	I115L	probably benign	Het
Olfm3	G	A	3: 115,090,156	V36M	probably damaging	Het
Olfr1174-ps	T	C	2: 88,311,029	T256A	probably benign	Het
Olfr147	A	T	9: 38,403,669	Y262F	possibly damaging	Het
Olfr1537	A	T	9: 39,237,687	S246T	possibly damaging	Het
Olfr406	T	C	11: 74,269,602	I71T	possibly damaging	Het
Pcdhgb8	A	T	18: 37,763,909	R677S	probably benign	Het
Prrt4	A	C	6: 29,170,539	L638R	possibly damaging	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rab44	T	C	17: 29,140,464	F542S	unknown	Het
Rhobtb3	T	A	13: 75,872,394	E596D	probably benign	Het
Rpl36	T	C	17: 56,613,944	I44T	probably benign	Het
Rptor	A	G	11: 119,846,936	I112V	probably benign	Het
Rrnad1	A	G	3: 87,924,342		probably null	Het
Rxfp2	T	C	5: 150,070,348	I611T	probably damaging	Het
Slc12a4	G	T	8: 105,949,233	N553K	probably damaging	Het
Spata31d1d	T	A	13: 59,728,232	R496S	probably benign	Het
Strbp	T	C	2: 37,603,113	D387G	possibly damaging	Het
Tas2r107	A	T	6: 131,659,190	C299S	possibly damaging	Het
Tbc1d21	A	T	9: 58,366,851		probably null	Het
Tdrd12	A	T	7: 35,481,046	Y847*	probably null	Het
Tlr2	A	T	3: 83,837,905	N290K	probably benign	Het
Tmppe	A	G	9: 114,405,790	T386A	probably damaging	Het
Tnks1bp1	C	A	2: 85,061,953	H741Q	probably benign	Het
Trpc6	G	A	9: 8,609,950	V140M	probably damaging	Het
Ttn	T	C	2: 76,811,588	D13427G	probably damaging	Het
Uba7	C	A	9: 107,976,172	L106I	possibly damaging	Het
Unc5b	T	G	10: 60,778,808	T237P	probably damaging	Het
Vit	A	C	17: 78,624,865	D467A	probably damaging	Het
Vmn1r103	T	C	7: 20,509,855	Y227C	possibly damaging	Het
Vmn1r77	T	A	7: 12,042,090	Y196*	probably null	Het
Zhx3	A	G	2: 160,780,978	V423A	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
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
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'- GCGACTTGGACATTTTCAGG -3'
(R):5'- GCATAGCGTAAATGGCAGTCC -3'

Sequencing Primer
(F):5'- ACTTGGACATTTTCAGGCTACTTTTG -3'
(R):5'- GAATGCTCCTATAGATGTTGGAATCG -3'

Posted On

2019-05-13