Mutagenetix > Incidental Mutation

Incidental Mutation 'R6171:Ice1'

490456

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

044314-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R6171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70736808-70785958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70754850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 412 (Y412C)

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: Y412C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: Y412C

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	A	G	4: 126,211,110 (GRCm39)	V269A	probably damaging	Het
Atp11a	T	A	8: 12,882,663 (GRCm39)	V517D	probably damaging	Het
Atr	C	T	9: 95,763,324 (GRCm39)	Q1073*	probably null	Het
C87436	A	C	6: 86,422,449 (GRCm39)	T8P	probably benign	Het
Clasrp	T	C	7: 19,318,747 (GRCm39)		probably benign	Het
Creb3l1	G	T	2: 91,821,614 (GRCm39)	Q254K	probably damaging	Het
Dapl1	C	A	2: 59,326,946 (GRCm39)	T64K	probably benign	Het
Dnah2	A	T	11: 69,313,868 (GRCm39)	L4168Q	probably damaging	Het
Dnttip2	T	A	3: 122,072,511 (GRCm39)	I597N	probably damaging	Het
Dyrk1b	A	T	7: 27,885,975 (GRCm39)		probably null	Het
Elk3	G	T	10: 93,085,906 (GRCm39)	P132Q	probably damaging	Het
Galt	C	T	4: 41,757,541 (GRCm39)	P238S	probably damaging	Het
Gm10322	T	C	10: 59,452,084 (GRCm39)	V67A	possibly damaging	Het
Kcna1	A	T	6: 126,619,286 (GRCm39)	Y345N	probably damaging	Het
Kif1b	T	C	4: 149,342,505 (GRCm39)	Y419C	probably damaging	Het
Klf15	G	T	6: 90,443,601 (GRCm39)	A59S	possibly damaging	Het
Mettl17	T	A	14: 52,126,236 (GRCm39)	Y162N	probably damaging	Het
Myh10	G	A	11: 68,682,716 (GRCm39)	R1050Q	probably damaging	Het
Nek4	T	C	14: 30,692,304 (GRCm39)	V376A	probably benign	Het
Nemp1	T	A	10: 127,525,319 (GRCm39)		probably null	Het
Nlrp9a	T	C	7: 26,258,188 (GRCm39)	I602T	possibly damaging	Het
Nphp4	T	C	4: 152,628,906 (GRCm39)	V764A	probably damaging	Het
Or12e1	T	A	2: 87,022,709 (GRCm39)	V226E	possibly damaging	Het
Or8c17	C	T	9: 38,179,898 (GRCm39)	Q22*	probably null	Het
Osbp2	A	T	11: 3,667,221 (GRCm39)		probably null	Het
Pax2	A	G	19: 44,779,179 (GRCm39)	Y185C	probably damaging	Het
Pdyn	A	T	2: 129,530,268 (GRCm39)	S134T	possibly damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Ppp1r13l	A	G	7: 19,111,436 (GRCm39)	M754V	probably benign	Het
Prr23a3	T	A	9: 98,747,731 (GRCm39)	N228K	probably benign	Het
Psmd12	T	C	11: 107,382,733 (GRCm39)	F213L	probably damaging	Het
Qser1	A	T	2: 104,619,628 (GRCm39)	S395T	probably damaging	Het
Rab7b	A	G	1: 131,626,372 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,738,709 (GRCm39)	L2821*	probably null	Het
Rplp0	A	G	5: 115,699,219 (GRCm39)	N127S	probably benign	Het
Serpina9	G	T	12: 103,974,678 (GRCm39)	Y158*	probably null	Het
Sis	G	A	3: 72,868,360 (GRCm39)	T110M	possibly damaging	Het
Slc43a2	A	G	11: 75,453,876 (GRCm39)	Y263C	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stard13	A	T	5: 151,016,227 (GRCm39)	V88E	probably damaging	Het
Trim29	G	A	9: 43,230,674 (GRCm39)	E286K	probably damaging	Het
Vmn2r24	T	C	6: 123,764,205 (GRCm39)	S361P	probably damaging	Het
Wnk2	T	C	13: 49,214,308 (GRCm39)	T18A	probably damaging	Het
Xylb	C	T	9: 119,210,657 (GRCm39)	T380M	probably damaging	Het
Zbtb5	T	C	4: 44,994,119 (GRCm39)	T422A	probably benign	Het
Zhx2	A	G	15: 57,686,602 (GRCm39)	E657G	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
IGL02583:Ice1	APN	13	70,753,854 (GRCm39)	missense	possibly damaging	0.80
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
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

Predicted Primers

PCR Primer
(F):5'- AGACTTATCCACCTCCCTGG -3'
(R):5'- TGTGCTGACAGTGACTATGTGC -3'

Sequencing Primer
(F):5'- GGCCTCCACCATTCTTTCTG -3'
(R):5'- CTTTGTGTGACTTTAAGGAATCCTTC -3'

Posted On

2017-10-10