Mutagenetix > Incidental Mutation

Incidental Mutation 'R8283:Ice1'

638334

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

067706-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R8283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70736808-70785958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70752549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1179 (E1179G)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

probably damaging
Transcript: ENSMUST00000043493
AA Change: E1179G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: E1179G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,856,086 (GRCm39)	P65S	probably damaging	Het
Adcy3	A	T	12: 4,250,935 (GRCm39)	R565W	probably damaging	Het
Arl14	A	T	3: 69,129,868 (GRCm39)	N5I	probably benign	Het
Arl6ip6	A	G	2: 53,082,250 (GRCm39)	E39G	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Boc	A	T	16: 44,340,800 (GRCm39)	L50Q	noncoding transcript	Het
Calml3	A	G	13: 3,854,097 (GRCm39)	V36A	probably damaging	Het
Ccdc183	G	A	2: 25,502,160 (GRCm39)	A238V	probably damaging	Het
Ccndbp1	A	G	2: 120,839,065 (GRCm39)		probably benign	Het
Ccr9	A	G	9: 123,608,696 (GRCm39)	Y126C	probably damaging	Het
Cdhr1	T	C	14: 36,804,737 (GRCm39)	N491S	probably benign	Het
Celsr2	C	T	3: 108,303,771 (GRCm39)	G2429D	probably damaging	Het
Cts6	T	C	13: 61,349,457 (GRCm39)	T84A	probably damaging	Het
Dcpp2	T	C	17: 24,118,384 (GRCm39)		probably null	Het
Drosha	A	G	15: 12,890,587 (GRCm39)	I945V	possibly damaging	Het
Dsg1b	A	G	18: 20,524,963 (GRCm39)	Q133R	probably benign	Het
Enpp1	T	A	10: 24,550,554 (GRCm39)	E174D	probably benign	Het
Esrrb	A	G	12: 86,468,732 (GRCm39)	H15R	probably benign	Het
Fbxl12	T	C	9: 20,550,017 (GRCm39)	T213A	probably benign	Het
Fnbp4	C	A	2: 90,577,115 (GRCm39)	T149K	probably damaging	Het
Foxj1	A	T	11: 116,224,893 (GRCm39)	F158Y	probably benign	Het
Frrs1	A	G	3: 116,671,952 (GRCm39)	T17A	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm45844	T	C	7: 7,244,901 (GRCm39)	Y11C	possibly damaging	Het
Hnrnpl	T	C	7: 28,513,697 (GRCm39)	V220A		Het
Iars2	T	A	1: 185,020,288 (GRCm39)	R949*	probably null	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mcmdc2	A	C	1: 10,004,263 (GRCm39)	K581T	possibly damaging	Het
Men1	A	T	19: 6,386,848 (GRCm39)	D186V	probably damaging	Het
Morc2b	T	G	17: 33,355,675 (GRCm39)	N699T	probably benign	Het
Mrgpra2b	A	G	7: 47,114,465 (GRCm39)	L89P	probably damaging	Het
Naip1	C	T	13: 100,563,695 (GRCm39)	G490E	probably damaging	Het
Ntm	T	C	9: 28,923,508 (GRCm39)	Y224C	probably damaging	Het
Nup88	A	T	11: 70,849,166 (GRCm39)	D262E	probably benign	Het
Or10ag52	T	C	2: 87,043,683 (GRCm39)	V149A	probably benign	Het
Or51l4	T	A	7: 103,404,019 (GRCm39)	I258L	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Oscp1	A	G	4: 125,980,393 (GRCm39)	M293V	probably benign	Het
Pcdhgc3	C	A	18: 37,940,694 (GRCm39)	A365D	probably damaging	Het
Pcyt2	A	T	11: 120,501,548 (GRCm39)	F388I	probably benign	Het
Pgm2l1	C	G	7: 99,902,460 (GRCm39)	A136G	probably benign	Het
Phf14	T	G	6: 11,987,636 (GRCm39)	D638E	probably benign	Het
Pnpla7	A	G	2: 24,940,935 (GRCm39)	K1096E	probably damaging	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Rnf187	T	A	11: 58,829,241 (GRCm39)	R124W	probably damaging	Het
Sema3a	T	C	5: 13,450,030 (GRCm39)	Y36H	probably damaging	Het
Setd7	T	G	3: 51,428,796 (GRCm39)	S345R	probably benign	Het
Sgms1	T	C	19: 32,137,035 (GRCm39)	D177G	probably damaging	Het
Snx19	T	C	9: 30,374,522 (GRCm39)	L927S	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sorl1	T	C	9: 41,942,294 (GRCm39)	D977G	probably damaging	Het
Sptan1	C	T	2: 29,870,212 (GRCm39)	R121W	probably damaging	Het
Srgap2	T	C	1: 131,291,771 (GRCm39)	D152G	probably damaging	Het
Suclg2	T	A	6: 95,474,700 (GRCm39)		probably null	Het
Tacc2	T	C	7: 130,227,034 (GRCm39)	S1240P	probably benign	Het
Tbc1d12	C	T	19: 38,825,353 (GRCm39)	A68V	probably benign	Het
Tex14	G	A	11: 87,365,241 (GRCm39)	D62N	probably damaging	Het
Thyn1	C	T	9: 26,918,155 (GRCm39)	T181I	probably benign	Het
Trio	T	A	15: 27,756,628 (GRCm39)	H2056L	possibly damaging	Het
Ubn2	T	A	6: 38,475,663 (GRCm39)	L1207Q	probably damaging	Het
Usp17lb	T	C	7: 104,490,013 (GRCm39)	S305G	probably damaging	Het
Vmn2r101	T	A	17: 19,832,253 (GRCm39)	Y750N	probably damaging	Het
Wif1	G	A	10: 120,931,952 (GRCm39)	S292N	probably benign	Het
Xpo6	T	G	7: 125,727,421 (GRCm39)	Q528H	possibly 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
R6171:Ice1	UTSW	13	70,754,850 (GRCm39)	missense	probably benign
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
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'- CAGTCCACAGGGTTTGTATCG -3'
(R):5'- ACCCCTCAGATGTAGGTGATCTG -3'

Sequencing Primer
(F):5'- TTCCCCGGTCTTGGTGAGAAC -3'
(R):5'- CAGATGTAGGTGATCTGACCTCC -3'

Posted On

2020-07-28