Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01298:Ice1'

73199

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 #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70604904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1021 (L1021P)

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: L1021P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: L1021P

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	G	T	10: 75,333,492	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,504,226	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,710,528	N186T	probably benign	Het
Ank2	A	G	3: 126,959,720	V304A	possibly damaging	Het
Atg3	T	C	16: 45,171,673	M88T	possibly damaging	Het
Baz1a	G	T	12: 54,954,809	P142Q	probably damaging	Het
Btbd1	G	T	7: 81,794,307		probably null	Het
Cacnb3	T	C	15: 98,639,853	Y70H	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Cyp7a1	A	T	4: 6,275,517	W19R	probably damaging	Het
Dock10	T	A	1: 80,531,245	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,848,094	D58Y	unknown	Het
Gm7168	A	T	17: 13,949,858	T496S	probably benign	Het
Gpc5	A	G	14: 115,399,188	S428G	probably benign	Het
Haus8	T	C	8: 71,253,113	E309G	probably damaging	Het
Krtap14	A	T	16: 88,825,727	H121Q	probably benign	Het
Nwd1	T	C	8: 72,662,331	V170A	probably benign	Het
Olfr338	T	A	2: 36,377,448	M224K	probably benign	Het
Olfr803	T	C	10: 129,692,029	Y4C	probably damaging	Het
Olfr938	G	A	9: 39,078,724	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,428,673	M96T	possibly damaging	Het
Pramel5	A	G	4: 144,271,162		probably benign	Het
Proc	T	C	18: 32,123,552	N354S	probably benign	Het
Prss40	T	G	1: 34,560,766	I47L	probably benign	Het
Tmprss7	T	C	16: 45,664,175	R541G	probably benign	Het
Togaram2	T	C	17: 71,716,513	V788A	possibly damaging	Het
Trbv19	T	C	6: 41,178,904	Y70H	probably damaging	Het
Ttk	C	T	9: 83,865,142	S678L	probably benign	Het
Vmn2r85	T	C	10: 130,418,821	T665A	probably benign	Het

Other mutations in Ice1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Ice1	APN	13	70,602,289 (GRCm38)	missense	probably damaging	1.00
IGL01155:Ice1	APN	13	70,604,082 (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

2013-10-07