Mutagenetix > Incidental Mutations

Incidental Mutation 'R8124:Ice2'

631650

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R8124 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

69397906-69433122 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69400495 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 20 (N20K)

Ref Sequence

ENSEMBL: ENSMUSP00000034761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034761] [ENSMUST00000117246] [ENSMUST00000117610] [ENSMUST00000125938] [ENSMUST00000145538]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034761
AA Change: N20K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: N20K

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

possibly damaging
Transcript: ENSMUST00000117246
AA Change: N20K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117610
AA Change: N20K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000125938

Predicted Effect

probably benign
Transcript: ENSMUST00000145538

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap3	T	A	5: 24,478,130	I320N	probably benign	Het
Ahnak	G	A	19: 9,007,123	G1924S	probably damaging	Het
Ap2a2	G	A	7: 141,598,844	R141H	probably benign	Het
Atf7ip2	T	C	16: 10,209,135	V89A	possibly damaging	Het
Clpsl2	G	A	17: 28,550,728	G55R	probably damaging	Het
Csnk2a2	G	A	8: 95,455,947	P296L		Het
Dab2	T	A	15: 6,429,397	C263*	probably null	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Ddx60	C	T	8: 61,983,911	A965V	probably benign	Het
Dennd5a	A	T	7: 109,897,935	I1119N	probably damaging	Het
Dpy30	A	G	17: 74,316,104		probably benign	Het
Epg5	G	A	18: 77,964,996	A780T	probably benign	Het
Etl4	A	G	2: 20,806,640	D1546G	probably benign	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
F13a1	T	C	13: 37,025,805	K62R	probably damaging	Het
Gm2832	T	C	14: 41,278,937	M44T		Het
Gm884	A	G	11: 103,620,431	V237A	unknown	Het
Gm9195	T	C	14: 72,442,623	I2249V	probably benign	Het
Hmcn2	T	C	2: 31,400,124	V2323A	probably benign	Het
Klf15	T	C	6: 90,466,881	F146S	probably damaging	Het
Lgi3	A	G	14: 70,534,738	Y241C	probably damaging	Het
Lig4	A	T	8: 9,972,954	D275E	probably damaging	Het
Lrit1	T	A	14: 37,062,048	S444R	probably benign	Het
Mip	T	C	10: 128,226,201	V107A	possibly damaging	Het
Myo15	G	A	11: 60,507,453	V1581M		Het
Nckap1l	A	G	15: 103,473,821	D481G	possibly damaging	Het
Obox3	A	T	7: 15,589,949		probably null	Het
Olfr1438-ps1	T	A	19: 12,333,470	N129Y	probably damaging	Het
Olfr491	C	A	7: 108,317,777	N294K	possibly damaging	Het
Olfr707	G	A	7: 106,891,881	T76I	possibly damaging	Het
Olfr749	C	T	14: 50,736,286	R292H	probably benign	Het
Olfr944	T	C	9: 39,217,671	F105L	probably benign	Het
Papd7	G	A	13: 69,533,597		probably benign	Het
Pilrb2	T	A	5: 137,871,044	E98V	probably damaging	Het
Plekhm1	A	G	11: 103,366,949	V1053A	probably benign	Het
Prdm2	A	T	4: 143,135,265	V485E	probably damaging	Het
Riox2	G	A	16: 59,486,591	E282K	probably benign	Het
Rps6ka2	T	A	17: 7,281,829	V379E	possibly damaging	Het
Skiv2l2	A	C	13: 112,927,337	D7E	probably benign	Het
Slc4a7	G	A	14: 14,729,211	E20K	possibly damaging	Het
Sned1	G	A	1: 93,282,989		probably null	Het
Spata3	C	T	1: 86,024,353	R110C	unknown	Het
St6gal1	G	A	16: 23,357,835	A393T	probably benign	Het
Tmem132d	T	C	5: 127,792,560	Q570R	probably damaging	Het
Tmem87a	T	C	2: 120,392,195	T168A	probably benign	Het
Trank1	A	G	9: 111,378,927	R1747G	probably benign	Het
Txk	C	T	5: 72,703,263		probably null	Het
Vcan	T	A	13: 89,704,254	L862F	possibly damaging	Het
Wdr64	A	T	1: 175,799,278		probably null	Het
Zfp106	G	T	2: 120,524,331	Q1343K	probably benign	Het
Zfp719	A	G	7: 43,589,890	T301A	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
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
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'- CCTTGAGAATTTCACACTGCTC -3'
(R):5'- CAAAGTGTTATCAGCAGCTTTCTTC -3'

Sequencing Primer
(F):5'- TTGAGAATTTCACACTGCTCCAAGC -3'
(R):5'- ACCAAGTGAATATTACCTGTT -3'

Posted On

2020-06-30