Mutagenetix > Incidental Mutation

Incidental Mutation 'R7647:Ice1'

590607

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

045725-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R7647 (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% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	A	12: 18,564,803 (GRCm39)	T22K	possibly damaging	Het
Abca7	G	T	10: 79,836,656 (GRCm39)	M344I	probably benign	Het
Alg14	T	C	3: 121,155,334 (GRCm39)	S185P	probably damaging	Het
Atg13	A	T	2: 91,519,006 (GRCm39)	H146Q	possibly damaging	Het
Atmin	T	G	8: 117,684,661 (GRCm39)	F774V	possibly damaging	Het
Ccdc150	A	G	1: 54,395,863 (GRCm39)	D782G	probably damaging	Het
Ccdc86	A	G	19: 10,926,363 (GRCm39)	S79P	unknown	Het
Cd180	A	T	13: 102,842,451 (GRCm39)	E499V	probably damaging	Het
Cd24a	C	T	10: 43,458,747 (GRCm39)	H73Y	unknown	Het
Cdh17	C	T	4: 11,814,698 (GRCm39)	P751L	probably damaging	Het
Chil3	A	G	3: 106,056,122 (GRCm39)	L344S	possibly damaging	Het
Cspp1	A	G	1: 10,206,162 (GRCm39)	D1129G	probably benign	Het
Cyth1	C	A	11: 118,068,114 (GRCm39)	V288L	probably benign	Het
Ddx19a	A	T	8: 111,703,259 (GRCm39)		probably null	Het
Dpysl4	T	A	7: 138,679,689 (GRCm39)	Y520N	possibly damaging	Het
Eif4b	T	A	15: 101,997,129 (GRCm39)	M249K	unknown	Het
Enam	G	A	5: 88,650,884 (GRCm39)	D798N	probably benign	Het
Fcgbpl1	A	G	7: 27,839,470 (GRCm39)	K428E	probably benign	Het
Gldc	A	G	19: 30,096,067 (GRCm39)	V648A	probably damaging	Het
Gm7995	A	G	14: 42,133,308 (GRCm39)	I62V	possibly damaging	Het
Kdm5a	T	A	6: 120,404,747 (GRCm39)	S1330T	probably benign	Het
Mon2	G	T	10: 122,841,931 (GRCm39)	P1553Q	probably benign	Het
Mylk	G	C	16: 34,699,894 (GRCm39)	S419T	probably benign	Het
Nphs1	T	A	7: 30,181,390 (GRCm39)		probably null	Het
Nsd1	A	G	13: 55,447,648 (GRCm39)	T1924A	probably damaging	Het
Obscn	T	A	11: 58,888,113 (GRCm39)		probably null	Het
Or11l3	A	T	11: 58,516,029 (GRCm39)	V281D	probably damaging	Het
Or52h9	T	C	7: 104,202,893 (GRCm39)	F256L	probably benign	Het
Or6c213	A	T	10: 129,574,070 (GRCm39)	C239S	probably damaging	Het
Or6c6	T	C	10: 129,187,326 (GRCm39)	V298A	probably benign	Het
Pcsk1	A	G	13: 75,280,329 (GRCm39)	D718G	possibly damaging	Het
Pitrm1	A	T	13: 6,605,444 (GRCm39)	N158I	probably damaging	Het
Pkd1l1	C	T	11: 8,897,296 (GRCm39)	V538M		Het
Prkdc	G	T	16: 15,555,807 (GRCm39)	G2194C	probably damaging	Het
Psmc5	T	C	11: 106,152,433 (GRCm39)	M150T	possibly damaging	Het
Rint1	T	C	5: 24,005,800 (GRCm39)	Y161H	probably damaging	Het
Sdk2	T	C	11: 113,684,563 (GRCm39)	K1966R	probably damaging	Het
Sgcb	A	T	5: 73,796,720 (GRCm39)		probably null	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Sp100	A	G	1: 85,619,764 (GRCm39)	K353E	possibly damaging	Het
Ssh1	T	C	5: 114,081,019 (GRCm39)	T804A	probably benign	Het
Vipr1	T	C	9: 121,482,905 (GRCm39)	L40P	possibly damaging	Het
Vmn1r7	A	G	6: 57,002,255 (GRCm39)	S2P	probably benign	Het
Vwa8	T	C	14: 79,172,669 (GRCm39)	S304P	probably damaging	Het
Zbed4	T	C	15: 88,665,924 (GRCm39)	M664T	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
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
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'- AGGGTGCAGAGTCTCCTTTG -3'
(R):5'- AGGGACAGGGAGCTCTTAGTTTTC -3'

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

Posted On

2019-10-24