Mutagenetix > Incidental Mutation

Incidental Mutation 'R6632:Ice2'

525227

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

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R6632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69397906-69433122 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69428452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 906 (S906P)

Ref Sequence

ENSEMBL: ENSMUSP00000034761 (fasta)

Gene Model

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

AlphaFold

Q3UZ18

Predicted Effect

probably benign
Transcript: ENSMUST00000034761
AA Change: S906P

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: S906P

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,281,067	S758P	possibly damaging	Het
Abca3	C	G	17: 24,384,470	D545E	probably benign	Het
Akap9	T	A	5: 4,013,842		probably null	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Arpp21	G	A	9: 112,127,356	Q518*	probably null	Het
Atp9b	G	A	18: 80,808,649	R410W	probably damaging	Het
Cacna2d3	T	C	14: 28,905,265	*265W	probably null	Het
Ccdc96	G	A	5: 36,485,189	E180K	probably benign	Het
Cep164	T	C	9: 45,779,790	K1231E	possibly damaging	Het
Cnot1	A	G	8: 95,773,267		probably benign	Het
Cpne2	T	C	8: 94,554,955	V206A	probably benign	Het
Dchs1	A	G	7: 105,761,878	Y1647H	probably damaging	Het
Dnaaf5	A	G	5: 139,170,333	T590A	probably benign	Het
Eif4g1	A	T	16: 20,685,520	I1068F	probably damaging	Het
Ephb4	A	T	5: 137,366,587	K639N	probably damaging	Het
Gcc2	A	G	10: 58,270,049		probably null	Het
Gm35315	A	C	5: 110,079,263	Y103*	probably null	Het
Hsd17b4	A	G	18: 50,179,102	K578R	possibly damaging	Het
Irx4	G	T	13: 73,268,426	A314S	probably benign	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lrp1b	A	T	2: 40,725,442	W3650R	probably benign	Het
Mcoln3	C	T	3: 146,128,187	H161Y	probably benign	Het
Mphosph10	A	T	7: 64,385,819	M368K	probably damaging	Het
Msh2	A	C	17: 87,712,666	K567Q	possibly damaging	Het
N4bp3	T	C	11: 51,643,949	E429G	possibly damaging	Het
Nrxn3	G	A	12: 89,193,154	A17T	probably damaging	Het
Olfr1459	T	A	19: 13,146,188	Y157F	probably benign	Het
Olfr171	T	C	16: 19,625,023	T26A	probably benign	Het
P4ha2	G	T	11: 54,117,648	R227L	probably benign	Het
Pfkfb4	G	A	9: 109,009,562		probably null	Het
Ror1	A	G	4: 100,442,106	N892S	probably benign	Het
Scn9a	G	T	2: 66,483,502	D1957E	probably benign	Het
Sec24a	A	T	11: 51,713,649	Y713*	probably null	Het
Serpinb1b	T	A	13: 33,087,455	F70I	probably damaging	Het
Setdb1	T	C	3: 95,324,149	Y1284C	probably damaging	Het
Suco	A	T	1: 161,828,240	M1030K	possibly damaging	Het
Syne1	A	T	10: 5,215,667		probably null	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
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
R9586:Ice2	UTSW	9	69407196	missense	probably damaging	1.00
R9672:Ice2	UTSW	9	69415617	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTAGCAGCTCAGTTTTGCTC -3'
(R):5'- TGCACACATACAGCAAGTAGAG -3'

Sequencing Primer
(F):5'- TGAGATTGGCACCATAAACCTG -3'
(R):5'- GCACACATACAGCAAGTAGAGAACAG -3'

Posted On

2018-06-22