Mutagenetix > Incidental Mutations

Incidental Mutation 'R4861:Ice2'

380253

Institutional Source

Beutler Lab

Gene Symbol

Ice2

Ensembl Gene

ENSMUSG00000032235

Gene Name

interactor of little elongation complex ELL subunit 2

Synonyms

Narg2, B230343B06Rik

MMRRC Submission

042472-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R4861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69397906-69433122 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69415448 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 408 (S408R)

Ref Sequence

ENSEMBL: ENSMUSP00000034761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034761]

Predicted Effect

probably benign
Transcript: ENSMUST00000034761
AA Change: S408R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: S408R

Domain	Start	End	E-Value	Type
low complexity region	408	422	N/A	INTRINSIC
low complexity region	434	473	N/A	INTRINSIC
low complexity region	563	580	N/A	INTRINSIC
low complexity region	615	629	N/A	INTRINSIC
Pfam:NARG2_C	726	936	1.7e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147558

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.2%
20x: 84.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,245,905	R1153H	probably damaging	Het
Ahcy	T	C	2: 155,060,516	E411G	probably benign	Het
Alpi	T	A	1: 87,100,469	I211F	probably damaging	Het
Arfgef3	G	A	10: 18,607,731	A1415V	probably benign	Het
Car3	T	C	3: 14,866,896	V109A	probably damaging	Het
Ccdc114	A	G	7: 45,942,873	E359G	probably damaging	Het
Cdk13	A	T	13: 17,766,586	V17D	probably damaging	Het
Cept1	A	C	3: 106,505,732	S226A	probably damaging	Het
Dbt	A	T	3: 116,548,078	I443L	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Farp2	T	C	1: 93,605,419	L633S	probably damaging	Het
Frmd6	T	G	12: 70,893,726	S382A	probably damaging	Het
Gm26727	T	C	2: 67,432,945	I79M	probably damaging	Het
Gm5800	T	A	14: 51,716,047	N37I	probably damaging	Het
Hapln1	G	A	13: 89,601,452	G39S	possibly damaging	Het
Lctl	T	C	9: 64,119,763	I131T	possibly damaging	Het
Mvk	C	T	5: 114,460,197		probably benign	Het
Mzt1	T	C	14: 99,047,474		probably null	Het
Ncoa7	T	A	10: 30,704,612	M117L	probably benign	Het
Npy4r	C	T	14: 34,146,883	W149*	probably null	Het
Nr5a2	A	G	1: 136,948,720		probably null	Het
Plg	G	A	17: 12,395,735	E301K	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Rapgef2	T	C	3: 79,074,436	K1084R	probably benign	Het
Slc41a2	T	C	10: 83,316,458	Q51R	probably damaging	Het
Slc47a2	A	T	11: 61,336,233	C170S	probably benign	Het
Slco1b2	A	T	6: 141,671,222	N427I	possibly damaging	Het
Smc2	G	A	4: 52,461,090	R571H	probably benign	Het
Sp4	G	T	12: 118,300,811		probably null	Het
Tas2r117	T	C	6: 132,803,129	F77L	probably benign	Het
Tbcd	C	T	11: 121,601,961	R875C	probably damaging	Het
Thumpd2	A	G	17: 81,026,801	S453P	probably benign	Het
Vars2	G	T	17: 35,661,933	Q13K	probably benign	Het

Other mutations in Ice2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Ice2	APN	9	69416113	missense	probably benign	0.04
IGL01626:Ice2	APN	9	69407332	missense	probably benign	0.39
IGL03035:Ice2	APN	9	69425688	missense	probably benign	0.06
R0227:Ice2	UTSW	9	69412228	missense	probably benign	0.08
R1373:Ice2	UTSW	9	69407119	missense	probably benign	0.01
R1381:Ice2	UTSW	9	69400527	missense	probably damaging	1.00
R1599:Ice2	UTSW	9	69411442	missense	probably null	0.01
R1778:Ice2	UTSW	9	69415648	missense	probably benign	0.04
R1818:Ice2	UTSW	9	69432101	missense	probably benign	0.00
R1829:Ice2	UTSW	9	69407353	missense	probably damaging	0.99
R1876:Ice2	UTSW	9	69415575	missense	possibly damaging	0.85
R1878:Ice2	UTSW	9	69428576	critical splice donor site	probably null
R2026:Ice2	UTSW	9	69416325	missense	probably benign	0.00
R2915:Ice2	UTSW	9	69410840	missense	probably benign	0.19
R4097:Ice2	UTSW	9	69421671	missense	possibly damaging	0.95
R4815:Ice2	UTSW	9	69407118	missense	probably damaging	1.00
R4861:Ice2	UTSW	9	69415448	missense	probably benign	0.00
R5066:Ice2	UTSW	9	69408291	missense	probably benign	0.00
R5653:Ice2	UTSW	9	69428380	missense	probably benign	0.00
R5898:Ice2	UTSW	9	69408262	missense	probably benign	0.08
R5951:Ice2	UTSW	9	69412369	missense	possibly damaging	0.67
R6176:Ice2	UTSW	9	69417072	missense	probably damaging	1.00
R6566:Ice2	UTSW	9	69416229	missense	probably benign
R6632:Ice2	UTSW	9	69428452	missense	probably benign	0.07
R7195:Ice2	UTSW	9	69428500	missense	possibly damaging	0.91
R7272:Ice2	UTSW	9	69417083	missense	possibly damaging	0.46
R7365:Ice2	UTSW	9	69400512	missense	probably damaging	1.00
R7495:Ice2	UTSW	9	69416229	missense	probably benign	0.01
R7535:Ice2	UTSW	9	69432078	missense	probably damaging	0.98
R7937:Ice2	UTSW	9	69410785	missense	possibly damaging	0.71
R8124:Ice2	UTSW	9	69400495	missense	probably damaging	1.00
R8381:Ice2	UTSW	9	69410171	missense	probably damaging	1.00
R8525:Ice2	UTSW	9	69411416	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCATTAAGTAACTATGACCTGAC -3'
(R):5'- ACCAGAGAATAGCTGTTTCTCCTTC -3'

Sequencing Primer
(F):5'- AAGTAACTATGACCTGACTTTTCCC -3'
(R):5'- CTGATGCCTCAGGTGTAGC -3'

Posted On

2016-04-15