Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Ice1'

570681

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

045438-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 70606102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 622 (Q622*)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably null
Transcript: ENSMUST00000043493
AA Change: Q622*

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: Q622*

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA792892	A	T	5: 94,383,884	N209I	probably damaging	Het
Abca17	C	T	17: 24,289,054	W1124*	probably null	Het
Acap3	G	A	4: 155,905,711	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,708,041	L860P	probably damaging	Het
Arap3	G	A	18: 37,973,278	T1504I	probably benign	Het
Atad5	T	C	11: 80,103,343		probably null	Het
Atp8a2	A	G	14: 59,791,204	V938A	probably benign	Het
AW551984	T	C	9: 39,592,925	M582V	probably benign	Het
Axdnd1	C	T	1: 156,382,477	V408I	possibly damaging	Het
Babam2	T	A	5: 32,007,250	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,324,626	M20V	probably benign	Het
Bex6	A	G	16: 32,186,216		probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Cad	T	A	5: 31,058,078	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,818,023	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,937,387	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,299,311	F1396I	probably damaging	Het
Cep170	A	T	1: 176,769,857	D373E	probably benign	Het
Chrna4	A	T	2: 181,037,474	I60N	probably damaging	Het
Cntn2	T	C	1: 132,522,399	T586A	probably benign	Het
Csmd2	G	T	4: 128,557,636	V3396F		Het
Cyp3a44	T	A	5: 145,803,688	L47F	probably benign	Het
D7Ertd443e	A	T	7: 134,349,394	H183Q	probably benign	Het
Ddx27	T	C	2: 167,029,513	V510A	probably benign	Het
Ddx58	T	A	4: 40,239,668	Q10L	probably benign	Het
Dgat1	G	T	15: 76,502,824	C396*	probably null	Het
Dmpk	A	G	7: 19,086,072	S83G	probably damaging	Het
Dsc2	T	G	18: 20,035,335	D689A	probably benign	Het
Eppk1	A	T	15: 76,106,418	W2088R	probably benign	Het
Exph5	A	C	9: 53,375,722	I1368L	probably benign	Het
Fadd	T	C	7: 144,580,659	K163R	probably benign	Het
Fam149a	T	A	8: 45,340,997	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,268,251	M449K	probably benign	Het
Gad1	T	C	2: 70,594,750	F463L	probably benign	Het
Gad2	T	A	2: 22,623,823	F91I	probably benign	Het
Gcc2	T	C	10: 58,280,698		probably null	Het
Gjc1	A	C	11: 102,800,452	C242G	probably damaging	Het
Gkn1	T	C	6: 87,348,118	E103G	possibly damaging	Het
Gm867	T	C	10: 75,939,836	T39A	probably benign	Het
Gpr108	A	G	17: 57,236,944	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,307,993	V508G	probably damaging	Het
Grm1	A	T	10: 10,719,493	I797N	probably damaging	Het
Kcnb2	T	A	1: 15,710,611	V569E	probably benign	Het
Ksr2	T	G	5: 117,689,641	I495S	probably benign	Het
Litaf	A	T	16: 10,963,353	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,111	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,472,397	S2996Y	probably benign	Het
Ltf	T	C	9: 111,028,450	S436P	probably benign	Het
Map4k4	T	A	1: 39,962,227	V58D	unknown	Het
Mapkapk3	C	A	9: 107,257,070	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,451,474	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,333,911	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,850,293	M248V	probably benign	Het
Olfr1000	T	C	2: 85,608,784	N42S	probably damaging	Het
Olfr1208	T	A	2: 88,896,718	N293I	probably damaging	Het
Olfr1238	T	C	2: 89,406,462	M206V	probably benign	Het
Olfr1239	C	A	2: 89,417,967	G149W	probably damaging	Het
Olfr1443	A	G	19: 12,680,751	I214M	possibly damaging	Het
Olfr523	A	T	7: 140,176,525	Y135F	probably damaging	Het
Olig2	A	G	16: 91,226,689	D97G	probably benign	Het
Pcdha11	T	A	18: 37,006,845	V509E	probably damaging	Het
Pglyrp3	G	A	3: 92,014,640	W5*	probably null	Het
Phf14	A	T	6: 11,961,638	N425Y	probably damaging	Het
Phf3	G	T	1: 30,804,326	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,328,812	T39A	probably damaging	Het
Plin4	A	G	17: 56,104,427	M868T	probably benign	Het
Pnma2	A	G	14: 66,916,421	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,041,832	T782I	probably damaging	Het
Prickle2	T	G	6: 92,410,890	E566D	probably benign	Het
Pvr	A	G	7: 19,910,616	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,968,358		probably benign	Het
Rapgef4	T	A	2: 72,180,091	I331N	probably damaging	Het
Reg3g	C	T	6: 78,466,859	W122*	probably null	Het
Rlbp1	A	T	7: 79,381,680	I100N	probably damaging	Het
Rnf213	T	A	11: 119,443,579	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Rtl6	G	T	15: 84,556,980	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,637,194	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,525,701	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,948,279	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,790,984	T392A	probably damaging	Het
Spaca7	T	A	8: 12,585,742	I86K	probably benign	Het
Syt10	G	T	15: 89,814,456	D228E	probably benign	Het
Tbx3	T	A	5: 119,677,560	N308K	probably benign	Het
Telo2	A	G	17: 25,102,069	V724A	probably damaging	Het
Tfip11	T	C	5: 112,333,268	V370A	probably benign	Het
Thbs3	A	G	3: 89,225,280	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,496,542	I148V	not run	Het
Trbv14	T	A	6: 41,135,495	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,876	V2973A	probably damaging	Het
Ttn	T	C	2: 76,794,484	D15250G	probably damaging	Het
Ubr2	G	A	17: 46,930,426	T1734I	probably benign	Het
Ush2a	G	T	1: 188,466,124	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,388,881	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,840,446	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,264,418	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,947,177	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,360,081	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,298,981	M87T	probably benign	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
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	70605483	missense	probably damaging	1.00
R7650:Ice1	UTSW	13	70589797	missense	possibly damaging	0.93
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'- CCTGCTTTTCCAGTCACTAAAGG -3'
(R):5'- GACACTCACTGATGGATCTGC -3'

Sequencing Primer
(F):5'- CCAGTCACTAAAGGTAGATGTTCC -3'
(R):5'- GGATCTGCTTCCAAGTCACC -3'

Posted On

2019-09-13