Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00904:Ice1'

28831

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: 0.946) question?

Stock #

IGL00904

Quality Score

Status

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70602289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 93 (D93N)

Ref Sequence

ENSEMBL: ENSMUSP00000152818 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably damaging
Transcript: ENSMUST00000043493
AA Change: D1893N

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

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: D1893N

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 damaging
Transcript: ENSMUST00000220637
AA Change: D93N

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,946,153 (GRCm38)	G236C	probably damaging	Het
Abi1	C	T	2: 22,941,930 (GRCm38)	R404Q	possibly damaging	Het
Atp8b3	C	T	10: 80,528,764 (GRCm38)	G532R	probably damaging	Het
Bysl	C	T	17: 47,601,871 (GRCm38)	M331I	probably benign	Het
Ccdc121rt3	G	A	5: 112,355,128 (GRCm38)	R237*	probably null	Het
Cndp1	A	G	18: 84,611,665 (GRCm38)	S468P	probably benign	Het
Esd	A	G	14: 74,749,688 (GRCm38)	*266W	probably null	Het
F5	T	C	1: 164,194,009 (GRCm38)	V1351A	probably benign	Het
Fchsd2	A	G	7: 101,271,622 (GRCm38)	D454G	probably benign	Het
Fndc1	T	A	17: 7,756,363 (GRCm38)	M1415L	probably benign	Het
Ghr	T	A	15: 3,328,120 (GRCm38)	Y222F	probably benign	Het
Gtf3c2	C	T	5: 31,172,858 (GRCm38)	S299N	probably damaging	Het
Ints7	T	A	1: 191,596,164 (GRCm38)		probably null	Het
Kif18a	A	G	2: 109,292,126 (GRCm38)	D182G	probably damaging	Het
Mcm9	A	T	10: 53,622,921 (GRCm38)	H308Q	possibly damaging	Het
Mesp2	A	G	7: 79,812,653 (GRCm38)	D319G	probably benign	Het
Mrpl55	T	A	11: 59,205,673 (GRCm38)	S84T	probably benign	Het
Mybpc3	T	C	2: 91,120,029 (GRCm38)	V123A	probably benign	Het
Myom1	T	C	17: 71,099,949 (GRCm38)		probably benign	Het
Nfia	C	T	4: 98,065,386 (GRCm38)	P325S	probably damaging	Het
Notch4	T	C	17: 34,575,561 (GRCm38)		probably null	Het
Npepps	A	C	11: 97,258,306 (GRCm38)	V130G	probably damaging	Het
Or7c70	A	T	10: 78,847,763 (GRCm38)	S51T	probably damaging	Het
Pja2	G	T	17: 64,283,531 (GRCm38)	T669K	probably damaging	Het
Rnf112	G	T	11: 61,452,784 (GRCm38)	D98E	probably damaging	Het
Rsl1d1	G	A	16: 11,199,694 (GRCm38)	T136I	probably damaging	Het
Samsn1	A	T	16: 75,909,120 (GRCm38)		probably benign	Het
Slc6a9	T	C	4: 117,864,617 (GRCm38)	L280P	probably damaging	Het
Svep1	T	C	4: 58,097,398 (GRCm38)	N1382D	probably benign	Het
Vmn2r100	T	G	17: 19,526,000 (GRCm38)	C474G	probably damaging	Het
Vmn2r74	C	T	7: 85,957,580 (GRCm38)	R186H	probably benign	Het
Wdr7	T	C	18: 63,796,231 (GRCm38)	I1046T	probably benign	Het

Other mutations in Ice1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Ice1	APN	13	70,604,082 (GRCm38)	missense	possibly damaging	0.93
IGL01298:Ice1	APN	13	70,604,904 (GRCm38)	missense	possibly damaging	0.93
IGL01797:Ice1	APN	13	70,623,946 (GRCm38)	missense	probably damaging	1.00
IGL02423:Ice1	APN	13	70,592,599 (GRCm38)	missense	probably damaging	1.00
IGL02583:Ice1	APN	13	70,605,735 (GRCm38)	missense	possibly damaging	0.80
IGL02794:Ice1	APN	13	70,609,159 (GRCm38)	missense	possibly damaging	0.95
IGL02882:Ice1	APN	13	70,624,474 (GRCm38)	splice site	probably benign
IGL02929:Ice1	APN	13	70,596,203 (GRCm38)	missense	probably damaging	1.00
IGL03343:Ice1	APN	13	70,602,929 (GRCm38)	missense	probably damaging	1.00
IGL03384:Ice1	APN	13	70,603,249 (GRCm38)	missense	probably benign	0.00
PIT4651001:Ice1	UTSW	13	70,623,921 (GRCm38)	critical splice donor site	probably null
R0078:Ice1	UTSW	13	70,603,348 (GRCm38)	missense	probably damaging	0.98
R0081:Ice1	UTSW	13	70,619,044 (GRCm38)	nonsense	probably null
R0281:Ice1	UTSW	13	70,604,047 (GRCm38)	missense	possibly damaging	0.64
R0557:Ice1	UTSW	13	70,601,191 (GRCm38)	missense	probably benign	0.08
R0973:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	probably benign	0.04
R0973:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	probably benign	0.04
R0974:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	probably benign	0.04
R1033:Ice1	UTSW	13	70,606,594 (GRCm38)	missense	probably damaging	0.96
R1371:Ice1	UTSW	13	70,596,221 (GRCm38)	missense	probably damaging	1.00
R1525:Ice1	UTSW	13	70,605,410 (GRCm38)	missense	probably benign	0.01
R1539:Ice1	UTSW	13	70,605,904 (GRCm38)	missense	probably damaging	1.00
R1596:Ice1	UTSW	13	70,604,895 (GRCm38)	missense	possibly damaging	0.94
R1603:Ice1	UTSW	13	70,603,353 (GRCm38)	missense	probably benign	0.01
R1680:Ice1	UTSW	13	70,605,448 (GRCm38)	missense	probably benign	0.00
R1737:Ice1	UTSW	13	70,606,325 (GRCm38)	missense	probably damaging	0.99
R1766:Ice1	UTSW	13	70,604,442 (GRCm38)	missense	possibly damaging	0.78
R1774:Ice1	UTSW	13	70,604,553 (GRCm38)	missense	probably damaging	1.00
R1834:Ice1	UTSW	13	70,615,338 (GRCm38)	missense	probably damaging	0.99
R1840:Ice1	UTSW	13	70,606,218 (GRCm38)	missense	probably benign	0.00
R1898:Ice1	UTSW	13	70,602,307 (GRCm38)	missense	possibly damaging	0.83
R1930:Ice1	UTSW	13	70,605,083 (GRCm38)	missense	probably benign	0.18
R2000:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	possibly damaging	0.58
R2106:Ice1	UTSW	13	70,605,622 (GRCm38)	missense	probably benign	0.00
R2293:Ice1	UTSW	13	70,614,957 (GRCm38)	missense	probably damaging	1.00
R2377:Ice1	UTSW	13	70,602,780 (GRCm38)	missense	probably damaging	1.00
R2909:Ice1	UTSW	13	70,596,173 (GRCm38)	missense	probably damaging	1.00
R2965:Ice1	UTSW	13	70,602,578 (GRCm38)	missense	probably benign	0.31
R3730:Ice1	UTSW	13	70,603,240 (GRCm38)	missense	probably damaging	1.00
R3886:Ice1	UTSW	13	70,605,370 (GRCm38)	missense	probably benign	0.00
R3914:Ice1	UTSW	13	70,606,084 (GRCm38)	missense	probably benign	0.30
R4051:Ice1	UTSW	13	70,603,527 (GRCm38)	missense	probably damaging	1.00
R4321:Ice1	UTSW	13	70,603,110 (GRCm38)	missense	possibly damaging	0.83
R4499:Ice1	UTSW	13	70,609,027 (GRCm38)	missense	possibly damaging	0.87
R4729:Ice1	UTSW	13	70,606,384 (GRCm38)	missense	probably damaging	1.00
R5078:Ice1	UTSW	13	70,604,850 (GRCm38)	missense	probably benign
R5431:Ice1	UTSW	13	70,592,650 (GRCm38)	missense	probably damaging	1.00
R5722:Ice1	UTSW	13	70,615,100 (GRCm38)	missense	possibly damaging	0.95
R5881:Ice1	UTSW	13	70,606,501 (GRCm38)	missense	probably benign	0.04
R5914:Ice1	UTSW	13	70,606,377 (GRCm38)	missense	possibly damaging	0.93
R6171:Ice1	UTSW	13	70,606,731 (GRCm38)	missense	probably benign
R6253:Ice1	UTSW	13	70,603,164 (GRCm38)	missense	probably damaging	1.00
R6274:Ice1	UTSW	13	70,594,839 (GRCm38)	missense	probably damaging	0.97
R6518:Ice1	UTSW	13	70,606,309 (GRCm38)	missense	possibly damaging	0.89
R6665:Ice1	UTSW	13	70,603,473 (GRCm38)	missense	possibly damaging	0.85
R6714:Ice1	UTSW	13	70,615,263 (GRCm38)	splice site	probably null
R6853:Ice1	UTSW	13	70,603,302 (GRCm38)	missense	possibly damaging	0.92
R6917:Ice1	UTSW	13	70,594,894 (GRCm38)	missense	probably damaging	1.00
R7032:Ice1	UTSW	13	70,596,164 (GRCm38)	missense	probably damaging	0.99
R7176:Ice1	UTSW	13	70,624,406 (GRCm38)	critical splice donor site	probably null
R7352:Ice1	UTSW	13	70,606,102 (GRCm38)	nonsense	probably null
R7445:Ice1	UTSW	13	70,596,167 (GRCm38)	missense
R7646:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7647:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7648:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7650:Ice1	UTSW	13	70,605,483 (GRCm38)	missense	probably damaging	1.00
R7650:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7812:Ice1	UTSW	13	70,603,005 (GRCm38)	missense	possibly damaging	0.63
R8061:Ice1	UTSW	13	70,603,732 (GRCm38)	missense	probably damaging	1.00
R8129:Ice1	UTSW	13	70,606,201 (GRCm38)	missense	probably benign	0.02
R8283:Ice1	UTSW	13	70,604,430 (GRCm38)	missense	probably damaging	0.97
R8303:Ice1	UTSW	13	70,606,407 (GRCm38)	missense	probably benign	0.04
R8444:Ice1	UTSW	13	70,604,376 (GRCm38)	missense	probably damaging	1.00
R8474:Ice1	UTSW	13	70,604,447 (GRCm38)	missense	probably benign	0.42
R8751:Ice1	UTSW	13	70,602,891 (GRCm38)	missense	probably damaging	1.00
R8887:Ice1	UTSW	13	70,602,931 (GRCm38)	missense	probably damaging	1.00
R8911:Ice1	UTSW	13	70,592,668 (GRCm38)	missense
R8954:Ice1	UTSW	13	70,610,578 (GRCm38)	missense	probably damaging	1.00
R9345:Ice1	UTSW	13	70,592,639 (GRCm38)	missense
R9438:Ice1	UTSW	13	70,606,315 (GRCm38)	missense	probably benign	0.04
R9452:Ice1	UTSW	13	70,596,343 (GRCm38)	missense	probably damaging	1.00
X0026:Ice1	UTSW	13	70,592,602 (GRCm38)	missense	probably damaging	1.00
Z1176:Ice1	UTSW	13	70,605,201 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-04-17