Mutagenetix > Incidental Mutation

Incidental Mutation 'R9672:Ice2'

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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: 0.756) question?

Stock #

R9672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69305185-69340360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69322899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 465 (A465T)

Ref Sequence

ENSEMBL: ENSMUSP00000034761 (fasta)

Gene Model

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

AlphaFold

Q3UZ18

Predicted Effect

probably benign
Transcript: ENSMUST00000034761
AA Change: A465T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034761
Gene: ENSMUSG00000032235
AA Change: A465T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,838,563 (GRCm39)	K612N	probably null	Het
Atrnl1	G	A	19: 57,618,695 (GRCm39)	A138T	possibly damaging	Het
Bicc1	T	C	10: 70,794,666 (GRCm39)	T164A	probably damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccdc7a	A	G	8: 129,671,016 (GRCm39)	S497P	unknown	Het
Cd209d	C	G	8: 3,922,036 (GRCm39)	G212A	probably damaging	Het
Cog8	A	G	8: 107,780,658 (GRCm39)	I200T	probably damaging	Het
Cuzd1	T	A	7: 130,919,847 (GRCm39)	I90F	possibly damaging	Het
Cyp4a30b	T	A	4: 115,316,576 (GRCm39)	C401S	probably benign	Het
Cyp4a31	T	A	4: 115,427,422 (GRCm39)	N209K	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dcaf11	T	A	14: 55,806,484 (GRCm39)	Y468*	probably null	Het
Dennd4a	A	G	9: 64,800,640 (GRCm39)	D926G	probably benign	Het
Dph7	T	C	2: 24,855,606 (GRCm39)	L135P	probably benign	Het
Fcho2	A	T	13: 98,869,178 (GRCm39)	C564*	probably null	Het
Gabrb2	G	A	11: 42,312,207 (GRCm39)	G11R	probably benign	Het
Gas6	A	G	8: 13,528,273 (GRCm39)	S187P	probably benign	Het
Gemin5	C	T	11: 58,058,585 (GRCm39)	V93I	probably benign	Het
Gldn	A	T	9: 54,245,780 (GRCm39)	I444F	probably damaging	Het
Gmps	T	C	3: 63,897,750 (GRCm39)	V234A	probably damaging	Het
Hand1	A	G	11: 57,722,516 (GRCm39)	S33P	possibly damaging	Het
Irf9	T	C	14: 55,842,129 (GRCm39)	S2P	probably benign	Het
Kpna7	C	T	5: 144,944,776 (GRCm39)	M21I	probably benign	Het
Lig4	A	G	8: 10,023,213 (GRCm39)	M189T	probably damaging	Het
Lrp1b	T	C	2: 40,779,291 (GRCm39)	T2698A		Het
Med10	A	G	13: 69,963,711 (GRCm39)	K104R	probably benign	Het
Mfsd14b	A	G	13: 65,260,320 (GRCm39)	W38R	probably benign	Het
Mrgpra2a	A	G	7: 47,076,490 (GRCm39)	F256S	probably benign	Het
Myo9a	A	G	9: 59,687,332 (GRCm39)	K146E	probably benign	Het
Oxgr1	T	A	14: 120,259,454 (GRCm39)	Y251F	probably damaging	Het
Pabpc4	T	C	4: 123,184,133 (GRCm39)		probably null	Het
Pde8a	A	G	7: 80,942,014 (GRCm39)	N151S	probably damaging	Het
Pdilt	A	G	7: 119,100,824 (GRCm39)	F176L	possibly damaging	Het
Plekhg5	C	A	4: 152,187,541 (GRCm39)	D115E	probably benign	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Ppp1r9a	T	C	6: 5,007,889 (GRCm39)	C532R	unknown	Het
Rasa2	A	G	9: 96,427,781 (GRCm39)	W695R	probably damaging	Het
Rbpms2	A	G	9: 65,538,118 (GRCm39)	N3S	probably benign	Het
Rsph6a	A	G	7: 18,799,842 (GRCm39)	Y491C	probably damaging	Het
Scel	T	A	14: 103,836,838 (GRCm39)	N495K	possibly damaging	Het
Setd1a	T	C	7: 127,385,237 (GRCm39)	L648P	possibly damaging	Het
Snx29	A	T	16: 11,478,515 (GRCm39)	R333S	probably benign	Het
Sppl2c	A	G	11: 104,077,344 (GRCm39)	Y48C	probably damaging	Het
Uba2	A	T	7: 33,856,749 (GRCm39)	N230K	probably benign	Het
Utrn	T	C	10: 12,603,613 (GRCm39)	Q589R	possibly damaging	Het
Vmn1r51	T	A	6: 90,106,549 (GRCm39)	L155H	probably damaging	Het
Vmn2r97	A	G	17: 19,149,442 (GRCm39)	N277D	probably benign	Het
Wdr97	T	A	15: 76,240,377 (GRCm39)	V355E		Het
Yy1	C	A	12: 108,759,584 (GRCm39)	H82Q	unknown	Het

Other mutations in Ice2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Ice2	APN	9	69,323,395 (GRCm39)	missense	probably benign	0.04
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

Predicted Primers

PCR Primer
(F):5'- CCACCTAGGTCACCAAGTTC -3'
(R):5'- AGAAATTCCCTCAGTTCTGTGGAC -3'

Sequencing Primer
(F):5'- AGTTCAGAAAGTGACTCCTCTGC -3'
(R):5'- CAGTTCTGTGGACTTCATTATCTTG -3'

Posted On

2022-10-06