Mutagenetix > Incidental Mutation

Incidental Mutation 'R7648:Ice1'

590656

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

045726-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R7648 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70736808-70785958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70737916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2177 (V2177A)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

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

AlphaFold

E9Q286

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043493
AA Change: V2177A

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: V2177A

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: ENSMUST00000222274

Predicted Effect

probably benign
Transcript: ENSMUST00000223102

Meta Mutation Damage Score

0.1712

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,261,886 (GRCm39)	V46A	possibly damaging	Het
Asb13	C	A	13: 3,699,332 (GRCm39)	N177K	probably damaging	Het
Asprv1	A	G	6: 86,605,852 (GRCm39)	T233A	probably damaging	Het
Atad2b	T	A	12: 5,077,182 (GRCm39)		probably null	Het
Atxn2	G	T	5: 121,934,440 (GRCm39)	V880F	probably damaging	Het
Car14	T	C	3: 95,805,507 (GRCm39)	N322S	probably benign	Het
Cdc42bpb	T	C	12: 111,343,587 (GRCm39)	E40G	probably damaging	Het
Ceacam16	G	T	7: 19,586,203 (GRCm39)	A103E	unknown	Het
Cnnm2	A	G	19: 46,866,339 (GRCm39)	D829G	probably damaging	Het
Cpt1b	C	T	15: 89,305,570 (GRCm39)	A382T	probably damaging	Het
Crygc	A	G	1: 65,112,484 (GRCm39)	F30S	probably damaging	Het
Cstf2t	A	G	19: 31,060,992 (GRCm39)	Q176R	possibly damaging	Het
Ctif	A	T	18: 75,770,213 (GRCm39)	H57Q	probably benign	Het
Cyp2c40	A	G	19: 39,792,289 (GRCm39)	*195Q	probably null	Het
Cyp2j8	T	A	4: 96,387,840 (GRCm39)	D207V	probably damaging	Het
Ddx49	A	G	8: 70,750,605 (GRCm39)	V123A	possibly damaging	Het
E4f1	A	T	17: 24,664,422 (GRCm39)	I456K	probably benign	Het
Eif4b	T	C	15: 101,997,435 (GRCm39)	S317P	unknown	Het
Enam	A	T	5: 88,652,016 (GRCm39)	Q1175L	possibly damaging	Het
Eppk1	T	C	15: 75,994,871 (GRCm39)	Y670C	probably benign	Het
Fam163b	G	T	2: 27,002,752 (GRCm39)	Q82K	probably benign	Het
Fam193a	A	T	5: 34,588,526 (GRCm39)	K358N	probably damaging	Het
Gls	C	A	1: 52,235,939 (GRCm39)	R392L	probably damaging	Het
Gramd1c	A	G	16: 43,810,232 (GRCm39)	V247A	probably damaging	Het
Gucy1a1	C	T	3: 82,016,014 (GRCm39)	E325K	possibly damaging	Het
Hectd4	T	C	5: 121,392,434 (GRCm39)	C233R	possibly damaging	Het
Kif28	A	G	1: 179,536,989 (GRCm39)	V498A	possibly damaging	Het
Klhdc7a	T	C	4: 139,693,250 (GRCm39)	S566G	possibly damaging	Het
Mlph	G	A	1: 90,861,248 (GRCm39)		probably null	Het
Mndal	T	A	1: 173,684,961 (GRCm39)	Y536F	probably benign	Het
Mrgpra2a	A	T	7: 47,076,411 (GRCm39)	C282*	probably null	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Msh3	A	T	13: 92,410,536 (GRCm39)	I684N	probably damaging	Het
Mylk	G	C	16: 34,699,894 (GRCm39)	S419T	probably benign	Het
Nfxl1	T	C	5: 72,680,879 (GRCm39)	K747R	probably benign	Het
Nup98	T	G	7: 101,773,404 (GRCm39)	H1641P	possibly damaging	Het
Or8b35	A	C	9: 37,903,856 (GRCm39)	T18P	probably damaging	Het
Pcm1	A	G	8: 41,728,736 (GRCm39)	N570D	probably damaging	Het
Plekhh1	T	A	12: 79,101,905 (GRCm39)	V325E	probably benign	Het
Rabl3	A	T	16: 37,384,120 (GRCm39)	I176F	probably damaging	Het
Relb	T	C	7: 19,353,767 (GRCm39)	E37G	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Tars2	G	A	3: 95,658,294 (GRCm39)	T177I	probably benign	Het
Tenm2	T	A	11: 35,997,563 (GRCm39)	N842I	probably damaging	Het
Tmem175	A	G	5: 108,792,432 (GRCm39)	E236G	possibly damaging	Het
Trank1	A	G	9: 111,220,753 (GRCm39)	T2497A	probably benign	Het
Trf	A	G	9: 103,105,168 (GRCm39)	V48A	probably benign	Het
Ttc28	A	G	5: 111,331,258 (GRCm39)	K493E	possibly damaging	Het
Unc50	T	C	1: 37,470,402 (GRCm39)	S9P	probably benign	Het
Uso1	T	A	5: 92,341,861 (GRCm39)		probably null	Het
Usp49	A	T	17: 47,985,753 (GRCm39)	N487I	possibly damaging	Het
Xab2	T	C	8: 3,660,638 (GRCm39)	D768G	probably benign	Het
Xcr1	T	C	9: 123,685,657 (GRCm39)	E35G	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
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'- AGAGTCTCCTTTGCTTGTACAG -3'
(R):5'- GGACAGGGAGCTCTTAGTTTTC -3'

Sequencing Primer
(F):5'- TTGTACAGCCAGCCGAGC -3'
(R):5'- CATTTGTAGACAGGTCTTGAATGAAC -3'

Posted On

2019-10-24