Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02583:Ice1'

299432

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

IGL02583

Quality Score

Status

Chromosome

Chromosomal Location

70736808-70785958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70753854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 744 (R744H)

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: R744H

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: R744H

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	C	T	5: 26,684,717 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,392 (GRCm39)	D140E	possibly damaging	Het
Bod1l	C	T	5: 41,973,550 (GRCm39)		probably null	Het
Brms1	T	A	19: 5,096,206 (GRCm39)	V61D	probably damaging	Het
Card11	A	T	5: 140,863,881 (GRCm39)	N952K	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cimap2	A	T	4: 106,468,602 (GRCm39)		probably benign	Het
Col15a1	T	C	4: 47,279,866 (GRCm39)	V697A	probably benign	Het
Col7a1	A	T	9: 108,791,297 (GRCm39)	I1118F	unknown	Het
Cyfip2	T	C	11: 46,140,585 (GRCm39)	E746G	possibly damaging	Het
Dach1	A	G	14: 98,065,830 (GRCm39)		probably benign	Het
Dock11	G	T	X: 35,270,370 (GRCm39)	G1023W	possibly damaging	Het
Fbxo10	T	C	4: 45,044,754 (GRCm39)	D453G	probably damaging	Het
Fhad1	T	C	4: 141,738,955 (GRCm39)		probably benign	Het
Gm17415	A	G	1: 93,349,801 (GRCm39)		probably benign	Het
Gm4781	A	T	10: 100,232,507 (GRCm39)		noncoding transcript	Het
Gpatch2	A	C	1: 186,965,514 (GRCm39)		probably null	Het
Gpatch2	G	T	1: 186,965,515 (GRCm39)		probably null	Het
Greb1	A	G	12: 16,756,296 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,542,362 (GRCm39)	Y1319C	probably damaging	Het
Kcnq2	T	A	2: 180,723,295 (GRCm39)	S694C	probably benign	Het
Krt35	C	A	11: 99,983,360 (GRCm39)	V448L	possibly damaging	Het
Lmo7	A	G	14: 102,171,360 (GRCm39)		probably benign	Het
Megf8	T	C	7: 25,055,218 (GRCm39)	S1984P	probably benign	Het
Nlrp1a	T	C	11: 71,014,227 (GRCm39)	Q341R	probably benign	Het
Or1p1	T	A	11: 74,180,330 (GRCm39)	L286Q	probably damaging	Het
Or51a6	T	C	7: 102,603,918 (GRCm39)	T297A	possibly damaging	Het
Osr1	C	T	12: 9,629,675 (GRCm39)	H183Y	probably damaging	Het
Paf1	T	C	7: 28,095,596 (GRCm39)	V202A	probably damaging	Het
Pde10a	A	G	17: 9,200,462 (GRCm39)	K1071E	probably benign	Het
Pwp2	T	C	10: 78,016,917 (GRCm39)	R268G	probably benign	Het
Rwdd1	T	A	10: 33,877,669 (GRCm39)	K178*	probably null	Het
Scn10a	A	T	9: 119,520,506 (GRCm39)		probably benign	Het
Sema3g	A	G	14: 30,943,476 (GRCm39)		probably null	Het
Slc22a6	C	A	19: 8,600,980 (GRCm39)	A391E	possibly damaging	Het
Slc41a3	G	A	6: 90,621,153 (GRCm39)	G372S	probably damaging	Het
Sqor	G	T	2: 122,641,690 (GRCm39)	K3N	probably damaging	Het
Srl	T	C	16: 4,310,244 (GRCm39)	Q495R	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stxbp3	G	T	3: 108,708,187 (GRCm39)	D371E	probably damaging	Het
Tnfrsf19	C	A	14: 61,261,659 (GRCm39)	V47F	probably damaging	Het
Usp11	A	T	X: 20,584,284 (GRCm39)	E622V	probably benign	Het
Vmn1r52	T	A	6: 90,156,126 (GRCm39)	Y143*	probably null	Het
Zfp280d	A	G	9: 72,229,727 (GRCm39)		probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zmat1	T	C	X: 133,874,021 (GRCm39)	T457A	probably damaging	Het

Other mutations in Ice1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Ice1	APN	13	70,750,408 (GRCm39)	missense	probably damaging	1.00
IGL01155:Ice1	APN	13	70,752,201 (GRCm39)	missense	possibly damaging	0.93
IGL01298:Ice1	APN	13	70,753,023 (GRCm39)	missense	possibly damaging	0.93
IGL01797:Ice1	APN	13	70,772,065 (GRCm39)	missense	probably damaging	1.00
IGL02423:Ice1	APN	13	70,740,718 (GRCm39)	missense	probably damaging	1.00
IGL02794:Ice1	APN	13	70,757,278 (GRCm39)	missense	possibly damaging	0.95
IGL02882:Ice1	APN	13	70,772,593 (GRCm39)	splice site	probably benign
IGL02929:Ice1	APN	13	70,744,322 (GRCm39)	missense	probably damaging	1.00
IGL03343:Ice1	APN	13	70,751,048 (GRCm39)	missense	probably damaging	1.00
IGL03384:Ice1	APN	13	70,751,368 (GRCm39)	missense	probably benign	0.00
PIT4651001:Ice1	UTSW	13	70,772,040 (GRCm39)	critical splice donor site	probably null
R0078:Ice1	UTSW	13	70,751,467 (GRCm39)	missense	probably damaging	0.98
R0081:Ice1	UTSW	13	70,767,163 (GRCm39)	nonsense	probably null
R0281:Ice1	UTSW	13	70,752,166 (GRCm39)	missense	possibly damaging	0.64
R0557:Ice1	UTSW	13	70,749,310 (GRCm39)	missense	probably benign	0.08
R0973:Ice1	UTSW	13	70,750,546 (GRCm39)	missense	probably benign	0.04
R0973:Ice1	UTSW	13	70,750,546 (GRCm39)	missense	probably benign	0.04
R0974:Ice1	UTSW	13	70,750,546 (GRCm39)	missense	probably benign	0.04
R1033:Ice1	UTSW	13	70,754,713 (GRCm39)	missense	probably damaging	0.96
R1371:Ice1	UTSW	13	70,744,340 (GRCm39)	missense	probably damaging	1.00
R1525:Ice1	UTSW	13	70,753,529 (GRCm39)	missense	probably benign	0.01
R1539:Ice1	UTSW	13	70,754,023 (GRCm39)	missense	probably damaging	1.00
R1596:Ice1	UTSW	13	70,753,014 (GRCm39)	missense	possibly damaging	0.94
R1603:Ice1	UTSW	13	70,751,472 (GRCm39)	missense	probably benign	0.01
R1680:Ice1	UTSW	13	70,753,567 (GRCm39)	missense	probably benign	0.00
R1737:Ice1	UTSW	13	70,754,444 (GRCm39)	missense	probably damaging	0.99
R1766:Ice1	UTSW	13	70,752,561 (GRCm39)	missense	possibly damaging	0.78
R1774:Ice1	UTSW	13	70,752,672 (GRCm39)	missense	probably damaging	1.00
R1834:Ice1	UTSW	13	70,763,457 (GRCm39)	missense	probably damaging	0.99
R1840:Ice1	UTSW	13	70,754,337 (GRCm39)	missense	probably benign	0.00
R1898:Ice1	UTSW	13	70,750,426 (GRCm39)	missense	possibly damaging	0.83
R1930:Ice1	UTSW	13	70,753,202 (GRCm39)	missense	probably benign	0.18
R2000:Ice1	UTSW	13	70,750,546 (GRCm39)	missense	possibly damaging	0.58
R2106:Ice1	UTSW	13	70,753,741 (GRCm39)	missense	probably benign	0.00
R2293:Ice1	UTSW	13	70,763,076 (GRCm39)	missense	probably damaging	1.00
R2377:Ice1	UTSW	13	70,750,899 (GRCm39)	missense	probably damaging	1.00
R2909:Ice1	UTSW	13	70,744,292 (GRCm39)	missense	probably damaging	1.00
R2965:Ice1	UTSW	13	70,750,697 (GRCm39)	missense	probably benign	0.31
R3730:Ice1	UTSW	13	70,751,359 (GRCm39)	missense	probably damaging	1.00
R3886:Ice1	UTSW	13	70,753,489 (GRCm39)	missense	probably benign	0.00
R3914:Ice1	UTSW	13	70,754,203 (GRCm39)	missense	probably benign	0.30
R4051:Ice1	UTSW	13	70,751,646 (GRCm39)	missense	probably damaging	1.00
R4321:Ice1	UTSW	13	70,751,229 (GRCm39)	missense	possibly damaging	0.83
R4499:Ice1	UTSW	13	70,757,146 (GRCm39)	missense	possibly damaging	0.87
R4729:Ice1	UTSW	13	70,754,503 (GRCm39)	missense	probably damaging	1.00
R5078:Ice1	UTSW	13	70,752,969 (GRCm39)	missense	probably benign
R5431:Ice1	UTSW	13	70,740,769 (GRCm39)	missense	probably damaging	1.00
R5722:Ice1	UTSW	13	70,763,219 (GRCm39)	missense	possibly damaging	0.95
R5881:Ice1	UTSW	13	70,754,620 (GRCm39)	missense	probably benign	0.04
R5914:Ice1	UTSW	13	70,754,496 (GRCm39)	missense	possibly damaging	0.93
R6171:Ice1	UTSW	13	70,754,850 (GRCm39)	missense	probably benign
R6253:Ice1	UTSW	13	70,751,283 (GRCm39)	missense	probably damaging	1.00
R6274:Ice1	UTSW	13	70,742,958 (GRCm39)	missense	probably damaging	0.97
R6518:Ice1	UTSW	13	70,754,428 (GRCm39)	missense	possibly damaging	0.89
R6665:Ice1	UTSW	13	70,751,592 (GRCm39)	missense	possibly damaging	0.85
R6714:Ice1	UTSW	13	70,763,382 (GRCm39)	splice site	probably null
R6853:Ice1	UTSW	13	70,751,421 (GRCm39)	missense	possibly damaging	0.92
R6917:Ice1	UTSW	13	70,743,013 (GRCm39)	missense	probably damaging	1.00
R7032:Ice1	UTSW	13	70,744,283 (GRCm39)	missense	probably damaging	0.99
R7176:Ice1	UTSW	13	70,772,525 (GRCm39)	critical splice donor site	probably null
R7352:Ice1	UTSW	13	70,754,221 (GRCm39)	nonsense	probably null
R7445:Ice1	UTSW	13	70,744,286 (GRCm39)	missense
R7646:Ice1	UTSW	13	70,737,916 (GRCm39)	missense	possibly damaging	0.93
R7647:Ice1	UTSW	13	70,737,916 (GRCm39)	missense	possibly damaging	0.93
R7648:Ice1	UTSW	13	70,737,916 (GRCm39)	missense	possibly damaging	0.93
R7650:Ice1	UTSW	13	70,753,602 (GRCm39)	missense	probably damaging	1.00
R7650:Ice1	UTSW	13	70,737,916 (GRCm39)	missense	possibly damaging	0.93
R7812:Ice1	UTSW	13	70,751,124 (GRCm39)	missense	possibly damaging	0.63
R8061:Ice1	UTSW	13	70,751,851 (GRCm39)	missense	probably damaging	1.00
R8129:Ice1	UTSW	13	70,754,320 (GRCm39)	missense	probably benign	0.02
R8283:Ice1	UTSW	13	70,752,549 (GRCm39)	missense	probably damaging	0.97
R8303:Ice1	UTSW	13	70,754,526 (GRCm39)	missense	probably benign	0.04
R8444:Ice1	UTSW	13	70,752,495 (GRCm39)	missense	probably damaging	1.00
R8474:Ice1	UTSW	13	70,752,566 (GRCm39)	missense	probably benign	0.42
R8751:Ice1	UTSW	13	70,751,010 (GRCm39)	missense	probably damaging	1.00
R8887:Ice1	UTSW	13	70,751,050 (GRCm39)	missense	probably damaging	1.00
R8911:Ice1	UTSW	13	70,740,787 (GRCm39)	missense
R8954:Ice1	UTSW	13	70,758,697 (GRCm39)	missense	probably damaging	1.00
R9345:Ice1	UTSW	13	70,740,758 (GRCm39)	missense
R9438:Ice1	UTSW	13	70,754,434 (GRCm39)	missense	probably benign	0.04
R9452:Ice1	UTSW	13	70,744,462 (GRCm39)	missense	probably damaging	1.00
X0026:Ice1	UTSW	13	70,740,721 (GRCm39)	missense	probably damaging	1.00
Z1176:Ice1	UTSW	13	70,753,320 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16