Mutagenetix > Incidental Mutation

Incidental Mutation 'R8954:Ice1'

681870

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

068790-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R8954 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70610578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 215 (N215S)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably damaging
Transcript: ENSMUST00000043493
AA Change: N215S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: N215S

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: ENSMUST00000222568

Predicted Effect

probably benign
Transcript: ENSMUST00000222627

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	A	T	7: 118,794,578 (GRCm38)	T450S	possibly damaging	Het
9930021J03Rik	A	T	19: 29,718,726 (GRCm38)	N1122K	possibly damaging	Het
Accsl	T	A	2: 93,857,954 (GRCm38)	Y445F	probably benign	Het
Actn4	T	C	7: 28,895,158 (GRCm38)	D815G	probably damaging	Het
Adam4	T	C	12: 81,420,372 (GRCm38)	S492G	possibly damaging	Het
Anapc2	A	G	2: 25,280,478 (GRCm38)	K643E	probably benign	Het
Ankfy1	T	A	11: 72,750,491 (GRCm38)	I630K	possibly damaging	Het
Arhgap24	A	G	5: 102,892,270 (GRCm38)	T361A	probably benign	Het
Arhgef28	T	C	13: 97,929,633 (GRCm38)	M1571V	probably benign	Het
Arid5b	A	C	10: 68,101,980 (GRCm38)	V196G	possibly damaging	Het
Art2b	C	A	7: 101,579,903 (GRCm38)		probably null	Het
Asxl3	G	A	18: 22,517,750 (GRCm38)	R932H	probably damaging	Het
B3galnt1	T	C	3: 69,575,340 (GRCm38)	N196S	possibly damaging	Het
C5ar2	C	A	7: 16,237,808 (GRCm38)	V65F	possibly damaging	Het
Cfap54	A	T	10: 93,043,393 (GRCm38)	L403Q	probably damaging	Het
Cfap74	G	A	4: 155,436,730 (GRCm38)	E620K		Het
Chac1	C	T	2: 119,353,355 (GRCm38)	A146V	probably damaging	Het
Cpne2	T	A	8: 94,558,146 (GRCm38)	S317T	probably damaging	Het
Cux1	T	A	5: 136,373,349 (GRCm38)	K138*	probably null	Het
Cwc22	T	A	2: 77,924,593 (GRCm38)	Y214F	probably damaging	Het
Cyp2c39	A	T	19: 39,536,753 (GRCm38)	T167S	probably benign	Het
Cyp4a12a	T	A	4: 115,328,738 (GRCm38)	Y414*	probably null	Het
Dap3	A	T	3: 88,928,263 (GRCm38)	D256E	probably damaging	Het
Dmxl2	C	T	9: 54,473,872 (GRCm38)	S110N	probably benign	Het
Dnhd1	A	T	7: 105,694,779 (GRCm38)	I1777L	probably benign	Het
Ecel1	G	A	1: 87,148,627 (GRCm38)	Q717*	probably null	Het
Eif3j2	G	A	18: 43,477,634 (GRCm38)	T38M	possibly damaging	Het
Fam205c	G	T	4: 42,871,753 (GRCm38)	D207E	probably damaging	Het
Fat3	T	C	9: 16,376,568 (GRCm38)	H553R	probably benign	Het
Fcho2	T	C	13: 98,777,477 (GRCm38)	D204G	probably benign	Het
Frmpd1	A	T	4: 45,284,702 (GRCm38)	E1174D	probably benign	Het
Gabra6	T	A	11: 42,315,132 (GRCm38)	Y299F	probably damaging	Het
Gak	G	A	5: 108,629,652 (GRCm38)		probably benign	Het
Gapdhs	T	A	7: 30,733,166 (GRCm38)	H214L	probably damaging	Het
Gapvd1	T	C	2: 34,678,098 (GRCm38)	Y1418C	probably damaging	Het
Gk5	C	A	9: 96,177,509 (GRCm38)	D471E	probably benign	Het
Glg1	A	G	8: 111,187,895 (GRCm38)	M419T	probably damaging	Het
Gm11639	T	G	11: 105,018,699 (GRCm38)		probably null	Het
Hist3h2a	T	A	11: 58,954,959 (GRCm38)	N74K	possibly damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Ifitm10	T	C	7: 142,328,563 (GRCm38)	N157D	probably benign	Het
Itga11	A	G	9: 62,769,263 (GRCm38)	D911G	possibly damaging	Het
Kcnt1	A	G	2: 25,894,326 (GRCm38)	N247S	probably benign	Het
Kirrel	T	C	3: 87,089,866 (GRCm38)	T265A	probably benign	Het
Klhl29	A	T	12: 5,137,542 (GRCm38)	L274H	possibly damaging	Het
Kmt2b	T	G	7: 30,574,215 (GRCm38)	T2326P	probably damaging	Het
Lcn11	A	G	2: 25,779,253 (GRCm38)	S141G	probably benign	Het
Ldb3	T	C	14: 34,555,344 (GRCm38)	R358G	probably null	Het
Ldlr	G	A	9: 21,739,532 (GRCm38)	D446N	possibly damaging	Het
Lipt2	T	C	7: 100,160,242 (GRCm38)	F179L	probably damaging	Het
Lmbrd1	G	T	1: 24,706,040 (GRCm38)	V154F	possibly damaging	Het
Malrd1	A	G	2: 15,551,367 (GRCm38)	I99V		Het
Map1b	T	A	13: 99,434,227 (GRCm38)	E662V	unknown	Het
Mfsd11	T	C	11: 116,859,336 (GRCm38)	S100P	probably damaging	Het
Mgst1	C	T	6: 138,142,969 (GRCm38)		probably benign	Het
Mtf1	T	A	4: 124,804,856 (GRCm38)	V49D	probably damaging	Het
Mtss1	T	C	15: 58,955,137 (GRCm38)	D236G	probably damaging	Het
Myct1	C	T	10: 5,604,208 (GRCm38)	T25I	probably damaging	Het
Myh4	T	A	11: 67,252,980 (GRCm38)	F1089I	possibly damaging	Het
Nrxn1	A	T	17: 90,590,187 (GRCm38)	I835K	probably damaging	Het
Nsd3	T	A	8: 25,673,378 (GRCm38)	S595T	probably damaging	Het
Nt5c2	A	T	19: 46,888,922 (GRCm38)	S527T	probably damaging	Het
Olfr1066	C	A	2: 86,455,548 (GRCm38)	C241F	probably damaging	Het
Olfr195	T	A	16: 59,148,956 (GRCm38)	Y35*	probably null	Het
Olfr554	T	C	7: 102,640,675 (GRCm38)	V143A	probably benign	Het
Olfr661	T	A	7: 104,688,693 (GRCm38)	L226*	probably null	Het
Olfr869	A	T	9: 20,137,368 (GRCm38)	D84V	probably damaging	Het
Osbpl8	A	G	10: 111,272,192 (GRCm38)	S350G	probably benign	Het
Otoa	G	A	7: 121,145,518 (GRCm38)	W833*	probably null	Het
Pcdhga6	T	G	18: 37,708,487 (GRCm38)	I420S	probably damaging	Het
Pmfbp1	A	C	8: 109,531,801 (GRCm38)	M666L	probably benign	Het
Pola2	T	G	19: 5,948,424 (GRCm38)	D370A	probably damaging	Het
Ppip5k1	C	G	2: 121,323,220 (GRCm38)		probably benign	Het
Ppp1r12b	A	T	1: 134,834,462 (GRCm38)	D815E	probably benign	Het
Ppp4r3b	T	A	11: 29,205,669 (GRCm38)	V545E	possibly damaging	Het
Ptpn23	A	T	9: 110,392,500 (GRCm38)	N177K	probably damaging	Het
Rad9b	A	T	5: 122,344,230 (GRCm38)	S147R	probably benign	Het
Rps20	T	A	4: 3,834,617 (GRCm38)	M82L	probably benign	Het
Samd9l	C	T	6: 3,374,577 (GRCm38)	V895I	probably damaging	Het
Sbf2	T	A	7: 110,438,911 (GRCm38)	K396*	probably null	Het
Sbno2	G	T	10: 80,057,962 (GRCm38)	Q1198K	probably damaging	Het
Scp2d1	C	T	2: 144,823,966 (GRCm38)	T75I	probably damaging	Het
Shank3	T	A	15: 89,549,228 (GRCm38)	I1392N	possibly damaging	Het
Sidt1	A	G	16: 44,262,027 (GRCm38)	F532L	probably benign	Het
Smchd1	A	T	17: 71,448,757 (GRCm38)	V243D	probably damaging	Het
Smg1	T	C	7: 118,206,992 (GRCm38)	R185G	probably damaging	Het
Spag16	C	T	1: 69,996,845 (GRCm38)	S344F		Het
Spsb3	A	G	17: 24,891,519 (GRCm38)	D440G	probably damaging	Het
Themis	A	C	10: 28,789,713 (GRCm38)	S591R	probably benign	Het
Trpm1	G	A	7: 64,208,341 (GRCm38)	V177I	probably damaging	Het
Usp37	A	G	1: 74,474,984 (GRCm38)		probably null	Het
Vmn1r171	C	T	7: 23,633,100 (GRCm38)	T238I	probably damaging	Het
Vmn2r33	T	C	7: 7,551,656 (GRCm38)	M633V	probably benign	Het
Vmn2r93	T	A	17: 18,325,990 (GRCm38)	L708H	probably damaging	Het
Wdr53	T	A	16: 32,256,655 (GRCm38)	V226E	probably damaging	Het
Wdr62	T	A	7: 30,254,029 (GRCm38)	I193F	probably damaging	Het
Zfp607b	T	A	7: 27,703,962 (GRCm38)	D614E	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
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
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

PCR Primer
(F):5'- AGGCTGACAGTTATCTGCTGG -3'
(R):5'- CAAACAAGCCTATGTCGAGTC -3'

Sequencing Primer
(F):5'- CTGGGGTTTAGAGTCACACTCC -3'
(R):5'- AACAAGCCTATGTCGAGTCTTGGG -3'

Posted On

2021-08-31