Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00566:Ice2'

6159

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ice2

Ensembl Gene

ENSMUSG00000032235

Gene Name

interactor of little elongation complex ELL subunit 2

Synonyms

Narg2, B230343B06Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

IGL00566

Quality Score

Status

Chromosome

Chromosomal Location

69305185-69340360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69323395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 630 (V630A)

Ref Sequence

ENSEMBL: ENSMUSP00000034761 (fasta)

Gene Model

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

AlphaFold

Q3UZ18

Predicted Effect

probably benign
Transcript: ENSMUST00000034761
AA Change: V630A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: V630A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,274,815 (GRCm39)	T173A	possibly damaging	Het
Acaa2	G	A	18: 74,926,449 (GRCm39)	G135E	probably damaging	Het
Actr2	C	A	11: 20,022,487 (GRCm39)	R328L	possibly damaging	Het
Adam1b	T	C	5: 121,639,056 (GRCm39)	D663G	probably damaging	Het
Adcy10	A	T	1: 165,379,483 (GRCm39)	E915V	probably benign	Het
Antxr2	G	A	5: 98,034,466 (GRCm39)		probably benign	Het
Ckap5	T	A	2: 91,398,972 (GRCm39)		probably benign	Het
Clec4g	T	C	8: 3,766,410 (GRCm39)		probably benign	Het
Cramp1	A	G	17: 25,202,925 (GRCm39)	V368A	probably benign	Het
Diaph3	C	T	14: 87,240,307 (GRCm39)	R248K	probably benign	Het
Fut10	T	C	8: 31,725,712 (GRCm39)	Y156H	probably damaging	Het
Ints13	A	T	6: 146,467,174 (GRCm39)	V179D	probably damaging	Het
Kcnj2	A	C	11: 110,962,653 (GRCm39)	E15A	probably damaging	Het
Kifbp	G	T	10: 62,395,118 (GRCm39)	S508*	probably null	Het
Lpcat2b	T	A	5: 107,581,670 (GRCm39)	L333Q	probably damaging	Het
Lrguk	A	C	6: 34,033,109 (GRCm39)	L258F	probably damaging	Het
M6pr	A	T	6: 122,290,337 (GRCm39)	K100M	probably damaging	Het
Nop14	T	C	5: 34,798,657 (GRCm39)		probably benign	Het
Pcdh20	A	G	14: 88,705,317 (GRCm39)	V661A	possibly damaging	Het
Vcan	A	T	13: 89,837,098 (GRCm39)	H2815Q	probably benign	Het

Other mutations in Ice2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01626:Ice2	APN	9	69,314,614 (GRCm39)	missense	probably benign	0.39
IGL03035:Ice2	APN	9	69,332,970 (GRCm39)	missense	probably benign	0.06
R0227:Ice2	UTSW	9	69,319,510 (GRCm39)	missense	probably benign	0.08
R1373:Ice2	UTSW	9	69,314,401 (GRCm39)	missense	probably benign	0.01
R1381:Ice2	UTSW	9	69,307,809 (GRCm39)	missense	probably damaging	1.00
R1599:Ice2	UTSW	9	69,318,724 (GRCm39)	missense	probably null	0.01
R1778:Ice2	UTSW	9	69,322,930 (GRCm39)	missense	probably benign	0.04
R1818:Ice2	UTSW	9	69,339,383 (GRCm39)	missense	probably benign	0.00
R1829:Ice2	UTSW	9	69,314,635 (GRCm39)	missense	probably damaging	0.99
R1876:Ice2	UTSW	9	69,322,857 (GRCm39)	missense	possibly damaging	0.85
R1878:Ice2	UTSW	9	69,335,858 (GRCm39)	critical splice donor site	probably null
R2026:Ice2	UTSW	9	69,323,607 (GRCm39)	missense	probably benign	0.00
R2915:Ice2	UTSW	9	69,318,122 (GRCm39)	missense	probably benign	0.19
R4097:Ice2	UTSW	9	69,328,953 (GRCm39)	missense	possibly damaging	0.95
R4815:Ice2	UTSW	9	69,314,400 (GRCm39)	missense	probably damaging	1.00
R4861:Ice2	UTSW	9	69,322,730 (GRCm39)	missense	probably benign	0.00
R4861:Ice2	UTSW	9	69,322,730 (GRCm39)	missense	probably benign	0.00
R5066:Ice2	UTSW	9	69,315,573 (GRCm39)	missense	probably benign	0.00
R5653:Ice2	UTSW	9	69,335,662 (GRCm39)	missense	probably benign	0.00
R5898:Ice2	UTSW	9	69,315,544 (GRCm39)	missense	probably benign	0.08
R5951:Ice2	UTSW	9	69,319,651 (GRCm39)	missense	possibly damaging	0.67
R6176:Ice2	UTSW	9	69,324,354 (GRCm39)	missense	probably damaging	1.00
R6566:Ice2	UTSW	9	69,323,511 (GRCm39)	missense	probably benign
R6632:Ice2	UTSW	9	69,335,734 (GRCm39)	missense	probably benign	0.07
R7195:Ice2	UTSW	9	69,335,782 (GRCm39)	missense	possibly damaging	0.91
R7272:Ice2	UTSW	9	69,324,365 (GRCm39)	missense	possibly damaging	0.46
R7365:Ice2	UTSW	9	69,307,794 (GRCm39)	missense	probably damaging	1.00
R7495:Ice2	UTSW	9	69,323,511 (GRCm39)	missense	probably benign	0.01
R7535:Ice2	UTSW	9	69,339,360 (GRCm39)	missense	probably damaging	0.98
R7937:Ice2	UTSW	9	69,318,067 (GRCm39)	missense	possibly damaging	0.71
R8124:Ice2	UTSW	9	69,307,777 (GRCm39)	missense	probably damaging	1.00
R8381:Ice2	UTSW	9	69,317,453 (GRCm39)	missense	probably damaging	1.00
R8525:Ice2	UTSW	9	69,318,698 (GRCm39)	missense	probably damaging	1.00
R9586:Ice2	UTSW	9	69,314,478 (GRCm39)	missense	probably damaging	1.00
R9672:Ice2	UTSW	9	69,322,899 (GRCm39)	missense	probably benign

Posted On

2012-04-20