Mutagenetix > Incidental Mutation

Incidental Mutation 'R1603:Ice1'

176276

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

039640-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R1603 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70736808-70785958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70751472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1538 (L1538P)

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: L1538P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: L1538P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Ace	T	A	11: 105,862,925 (GRCm39)	S315R	probably benign	Het
Adamtsl1	A	G	4: 86,333,767 (GRCm39)	I1491V	probably benign	Het
Adrb2	A	T	18: 62,312,579 (GRCm39)	M82K	probably damaging	Het
Aebp2	A	G	6: 140,587,979 (GRCm39)	N350D	probably damaging	Het
Ankrd42	T	C	7: 92,268,899 (GRCm39)		probably benign	Het
Asap1	A	T	15: 64,001,106 (GRCm39)	C492S	probably damaging	Het
Atp8b3	C	A	10: 80,361,619 (GRCm39)	A768S	probably benign	Het
Chga	T	A	12: 102,530,866 (GRCm39)		probably null	Het
Clca4b	A	G	3: 144,627,780 (GRCm39)	V397A	probably benign	Het
Cntnap5a	A	C	1: 116,339,831 (GRCm39)	T697P	possibly damaging	Het
Col12a1	T	C	9: 79,520,244 (GRCm39)	Q2810R	probably damaging	Het
Dchs1	G	T	7: 105,411,977 (GRCm39)	R1380S	probably benign	Het
Dgkg	T	A	16: 22,388,909 (GRCm39)		probably benign	Het
Dlgap3	G	A	4: 127,089,021 (GRCm39)	G206R	probably damaging	Het
Dnah5	A	G	15: 28,295,131 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,449,326 (GRCm39)	I4243L	probably benign	Het
Eif1ad16	C	A	12: 87,985,134 (GRCm39)	E136D	probably benign	Het
Fbxw22	G	T	9: 109,207,915 (GRCm39)	P452H	probably benign	Het
Fgl1	T	A	8: 41,650,055 (GRCm39)	D242V	probably damaging	Het
Gba2	C	T	4: 43,567,823 (GRCm39)	G794R	probably damaging	Het
Gimap7	A	T	6: 48,700,864 (GRCm39)	D150V	probably damaging	Het
Gm5334	T	C	7: 68,268,620 (GRCm39)	V13A	probably benign	Het
Grk5	T	C	19: 61,057,800 (GRCm39)	F167L	probably benign	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Kmt2a	A	T	9: 44,752,858 (GRCm39)		probably null	Het
Kras	A	T	6: 145,170,871 (GRCm39)	L168*	probably null	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Mak	T	C	13: 41,195,582 (GRCm39)	D377G	possibly damaging	Het
Matn2	T	C	15: 34,388,914 (GRCm39)	C335R	probably damaging	Het
Mcoln2	C	T	3: 145,885,977 (GRCm39)	S276F	probably damaging	Het
Morc3	C	A	16: 93,663,391 (GRCm39)	N531K	probably benign	Het
Obp2a	G	A	2: 25,592,757 (GRCm39)	S175N	probably benign	Het
Or2ak6	T	C	11: 58,593,286 (GRCm39)	V253A	probably benign	Het
Or4n4b	T	G	14: 50,536,491 (GRCm39)	I92L	possibly damaging	Het
Or5an1b	A	T	19: 12,299,348 (GRCm39)	V281E	probably damaging	Het
Osbpl3	C	A	6: 50,300,073 (GRCm39)	K510N	probably damaging	Het
Pcnx2	G	A	8: 126,566,365 (GRCm39)	S1026F	probably damaging	Het
Pom121l2	A	T	13: 22,167,514 (GRCm39)	D595V	probably damaging	Het
Poteg	T	A	8: 27,938,033 (GRCm39)	M1K	probably null	Het
Rbl1	G	A	2: 157,017,579 (GRCm39)	L547F	possibly damaging	Het
Rpap3	T	C	15: 97,599,002 (GRCm39)	T82A	possibly damaging	Het
Sema7a	G	A	9: 57,867,959 (GRCm39)	D512N	probably benign	Het
Sgpl1	C	T	10: 60,941,230 (GRCm39)	V294M	possibly damaging	Het
Slc22a28	A	G	19: 8,040,674 (GRCm39)	S526P	probably damaging	Het
Spata31e2	T	A	1: 26,724,650 (GRCm39)	R177W	probably damaging	Het
Tent2	G	A	13: 93,312,073 (GRCm39)	A209V	probably benign	Het
Trim30b	T	G	7: 104,015,019 (GRCm39)	Q123P	possibly damaging	Het
Trpm5	A	G	7: 142,638,946 (GRCm39)	L275P	probably benign	Het
Ttc33	A	G	15: 5,219,275 (GRCm39)	E71G	probably damaging	Het
Unc13d	T	C	11: 115,964,481 (GRCm39)	T288A	possibly damaging	Het
Unc93a	T	A	17: 13,328,521 (GRCm39)	E444V	probably benign	Het
Usf3	T	A	16: 44,038,535 (GRCm39)	M1005K	probably benign	Het
Vmn2r91	T	C	17: 18,326,405 (GRCm39)	I230T	probably benign	Het
Wdr49	G	A	3: 75,304,177 (GRCm39)	Q448*	probably null	Het
Zfp939	T	A	7: 39,122,695 (GRCm39)		noncoding transcript	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
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
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'- CTTGCTCAGAGTGTCAGGAGAACAG -3'
(R):5'- TGGTGCCCAGGAGGATATTTCCAG -3'

Sequencing Primer
(F):5'- TGTCAGGAGAACAGTTGGTGG -3'
(R):5'- GTGCCAACTTTGATAAGAGTCGTC -3'

Posted On

2014-04-24