Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Ice1'

500411

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

039102-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70602427 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1847 (V1847L)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably benign
Transcript: ENSMUST00000043493
AA Change: V1847L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: V1847L

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
AA Change: V47L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000222568

Predicted Effect

probably benign
Transcript: ENSMUST00000222627

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

93% (38/41)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505 (GRCm38)	S119N	probably benign	Het
4930503L19Rik	T	A	18: 70,467,926 (GRCm38)		probably null	Het
5430419D17Rik	T	C	7: 131,238,182 (GRCm38)	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853 (GRCm38)	T324A	probably benign	Het
Adamts20	T	A	15: 94,286,371 (GRCm38)	Q1517L	probably benign	Het
AI429214	A	G	8: 36,994,319 (GRCm38)	Q207R	probably benign	Het
Arhgef7	A	G	8: 11,819,659 (GRCm38)	T432A	possibly damaging	Het
Atad2b	A	G	12: 5,031,784 (GRCm38)	N1231S	probably benign	Het
Atp13a1	T	C	8: 69,802,144 (GRCm38)		probably null	Het
Atp6v0a1	T	A	11: 101,055,491 (GRCm38)	L770*	probably null	Het
Atp8b3	T	C	10: 80,534,198 (GRCm38)	N127S	probably damaging	Het
B3gnt5	T	A	16: 19,770,010 (GRCm38)	D326E	probably damaging	Het
Birc6	T	A	17: 74,565,861 (GRCm38)	S372T	probably damaging	Het
Btbd9	T	A	17: 30,299,633 (GRCm38)	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992 (GRCm38)	*366W	probably null	Het
Cdh18	T	A	15: 23,473,995 (GRCm38)	D650E	probably damaging	Het
Cenpc1	A	T	5: 86,037,908 (GRCm38)	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899 (GRCm38)	S574P	probably benign	Het
Chd2	A	G	7: 73,478,664 (GRCm38)	S858P	probably damaging	Het
Cib4	T	C	5: 30,488,594 (GRCm38)	D110G	probably damaging	Het
Col9a2	T	A	4: 121,039,788 (GRCm38)		probably null	Het
Csmd2	A	T	4: 128,496,188 (GRCm38)	I2239F	possibly damaging	Het
Csmd3	C	A	15: 47,659,089 (GRCm38)	G2728V	probably damaging	Het
Cxcl1	A	T	5: 90,891,767 (GRCm38)	K85*	probably null	Het
Cyp2d11	A	G	15: 82,389,529 (GRCm38)	L416P	possibly damaging	Het
Daam1	A	C	12: 71,915,784 (GRCm38)	K90T	unknown	Het
Depdc5	T	A	5: 32,986,966 (GRCm38)	M1435K	possibly damaging	Het
Diexf	A	T	1: 193,114,703 (GRCm38)	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908 (GRCm38)	A632T	probably damaging	Het
Dld	A	T	12: 31,334,054 (GRCm38)	I350N	probably damaging	Het
Dmtf1	T	A	5: 9,127,987 (GRCm38)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145 (GRCm38)	V3081A	probably damaging	Het
Efemp1	A	G	11: 28,854,538 (GRCm38)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104 (GRCm38)	D65G	probably damaging	Het
Fsip2	A	T	2: 82,977,092 (GRCm38)	T1252S	probably benign	Het
Gm13084	T	C	4: 143,811,858 (GRCm38)	Y181C	probably damaging	Het
Gm4847	A	G	1: 166,630,255 (GRCm38)	S510P	probably benign	Het
Golga4	T	C	9: 118,537,273 (GRCm38)	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543 (GRCm38)	L65Q	probably damaging	Het
Ibtk	T	C	9: 85,743,577 (GRCm38)	Y40C	probably damaging	Het
Ift172	C	T	5: 31,265,355 (GRCm38)	R917H	probably benign	Het
Itgae	C	T	11: 73,138,509 (GRCm38)	Q1037*	probably null	Het
Kbtbd7	A	G	14: 79,427,430 (GRCm38)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576 (GRCm38)	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158 (GRCm38)		probably null	Het
Lrfn5	G	A	12: 61,843,437 (GRCm38)	G504D	probably damaging	Het
Macf1	A	G	4: 123,476,000 (GRCm38)	V91A	possibly damaging	Het
Map6	G	A	7: 99,336,743 (GRCm38)	G821D	possibly damaging	Het
Mark1	A	C	1: 184,921,604 (GRCm38)	V167G	probably damaging	Het
Mrgprf	T	A	7: 145,308,256 (GRCm38)	L185Q	probably damaging	Het
Mtor	T	A	4: 148,550,188 (GRCm38)	V2422D	probably damaging	Het
Myh13	T	A	11: 67,332,520 (GRCm38)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427 (GRCm38)	C350Y	probably benign	Het
Nfix	G	A	8: 84,726,526 (GRCm38)	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986 (GRCm38)	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978 (GRCm38)	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184 (GRCm38)	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008 (GRCm38)	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706 (GRCm38)	S156P	probably damaging	Het
Olfr912	T	A	9: 38,581,283 (GRCm38)	V2D	possibly damaging	Het
Pacs1	A	T	19: 5,143,829 (GRCm38)	D557E	probably damaging	Het
Pde1c	A	G	6: 56,361,815 (GRCm38)	F11L	probably benign	Het
Phactr2	T	C	10: 13,247,139 (GRCm38)	D343G	possibly damaging	Het
Piezo2	T	C	18: 63,015,802 (GRCm38)	Y2659C	probably damaging	Het
Pkd2l2	A	G	18: 34,428,252 (GRCm38)	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081 (GRCm38)	W857R	probably damaging	Het
Plxnb1	T	C	9: 109,102,142 (GRCm38)	V410A	possibly damaging	Het
Ptger2	A	G	14: 44,989,500 (GRCm38)	Y179C	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rcan1	A	T	16: 92,393,520 (GRCm38)	M177K	probably benign	Het
Rilpl1	A	G	5: 124,501,871 (GRCm38)	S156P	probably benign	Het
Rilpl1	A	G	5: 124,501,888 (GRCm38)	I122T	possibly damaging	Het
Rims4	C	T	2: 163,863,929 (GRCm38)	V262M	possibly damaging	Het
Rpa1	C	T	11: 75,312,973 (GRCm38)		probably null	Het
Saxo2	A	G	7: 82,634,870 (GRCm38)	V260A	probably benign	Het
Sel1l	T	C	12: 91,824,860 (GRCm38)	Y309C	probably damaging	Het
Setd1b	GCCCCCCC	GCCCCCCCCCCCCC	5: 123,160,703 (GRCm38)		probably benign	Het
Slc33a1	A	G	3: 63,943,304 (GRCm38)	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858 (GRCm38)	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721 (GRCm38)		probably null	Het
Spef2	A	G	15: 9,716,396 (GRCm38)	F368S	probably damaging	Het
Sri	A	T	5: 8,059,381 (GRCm38)	Q55L	probably damaging	Het
Stat4	A	G	1: 52,096,820 (GRCm38)	I429M	probably damaging	Het
Stkld1	A	T	2: 26,951,450 (GRCm38)	Q469L	probably benign	Het
Tm9sf1	T	C	14: 55,642,935 (GRCm38)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218 (GRCm38)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060 (GRCm38)	P124S	possibly damaging	Het
Tmem81	G	A	1: 132,507,924 (GRCm38)	R156Q	probably damaging	Het
Trpv6	T	A	6: 41,625,188 (GRCm38)	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079 (GRCm38)	Y780*	probably null	Het
Vmn1r120	A	G	7: 21,053,016 (GRCm38)	C257R	probably damaging	Het
Vmn2r53	A	G	7: 12,601,392 (GRCm38)	F114L	probably damaging	Het
Vwf	A	G	6: 125,643,006 (GRCm38)	E1549G	probably damaging	Het
Zfp626	G	A	7: 27,818,482 (GRCm38)	R296H	probably damaging	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
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
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

Predicted Primers

Posted On

2017-12-01