Mutagenetix > Incidental Mutation

Incidental Mutation 'R5759:Ing2'

445188

Institutional Source

Beutler Lab

Gene Symbol

Ing2

Ensembl Gene

ENSMUSG00000063049

Gene Name

inhibitor of growth family, member 2

Synonyms

2810011M06Rik, Ing1l, ING2, P33ING2

MMRRC Submission

043361-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.349) question?

Stock #

R5759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48120213-48128591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 48122040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 169 (N169K)

Ref Sequence

ENSEMBL: ENSMUSP00000079226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080353]

AlphaFold

Q9ESK4

PDB Structure

Solution structure of PHD domain in inhibitor of growth family, member 1-like [SOLUTION NMR]
Crystal structure of ING2 PHD finger in complex with H3K4Me3 peptide [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080353
AA Change: N169K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079226
Gene: ENSMUSG00000063049
AA Change: N169K

Domain	Start	End	E-Value	Type
Pfam:ING	28	126	2e-26	PFAM
low complexity region	143	162	N/A	INTRINSIC
low complexity region	180	201	N/A	INTRINSIC
PHD	215	260	5.1e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125536

SMART Domains

Protein: ENSMUSP00000124792
Gene: ENSMUSG00000063049

Domain	Start	End	E-Value	Type
low complexity region	36	55	N/A	INTRINSIC
low complexity region	73	94	N/A	INTRINSIC
Pfam:PHD	108	145	1.8e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146625

SMART Domains

Protein: ENSMUSP00000124454
Gene: ENSMUSG00000063049

Domain	Start	End	E-Value	Type
low complexity region	36	55	N/A	INTRINSIC
low complexity region	73	94	N/A	INTRINSIC
PHD	108	153	7.99e-13	SMART

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous inactivation of this gene causes impaired spermatogenesis and male infertility associated with teratozoospermia, seminiferous tubule degeneration, germ cell depletion, arrest of male meiosis and enhanced testicular apoptosis, and leads to an increased incidence of soft tissue sarcomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,419 (GRCm39)	S1203P	probably benign	Het
Adamts1	A	G	16: 85,594,936 (GRCm39)	V341A	possibly damaging	Het
Arf2	G	A	11: 103,874,459 (GRCm39)	G144S	probably benign	Het
Atr	A	G	9: 95,756,455 (GRCm39)	N862D	probably benign	Het
Cep295nl	T	C	11: 118,224,472 (GRCm39)	H124R	possibly damaging	Het
Chd6	C	T	2: 160,825,682 (GRCm39)	V1141I	possibly damaging	Het
Chst5	C	A	8: 112,616,842 (GRCm39)	K259N	probably benign	Het
Dchs1	T	A	7: 105,413,383 (GRCm39)	D1144V	probably damaging	Het
Dmxl2	T	C	9: 54,282,792 (GRCm39)	Y2795C	probably damaging	Het
Dnah7b	A	G	1: 46,316,280 (GRCm39)	N3131S	probably damaging	Het
Dnah7c	G	A	1: 46,654,527 (GRCm39)	G1436R	probably damaging	Het
Emp2	T	A	16: 10,102,374 (GRCm39)	Y146F	probably damaging	Het
Exoc6	C	T	19: 37,562,189 (GRCm39)	Q148*	probably null	Het
Fam13b	T	C	18: 34,630,488 (GRCm39)	D90G	probably damaging	Het
Fam186b	T	G	15: 99,177,598 (GRCm39)	Y576S	probably benign	Het
Fras1	T	C	5: 96,857,775 (GRCm39)	V2023A	probably benign	Het
Grm5	A	C	7: 87,675,808 (GRCm39)	M441L	probably damaging	Het
Hhatl	A	G	9: 121,617,343 (GRCm39)	Y297H	probably damaging	Het
Ifi30	A	G	8: 71,219,188 (GRCm39)		probably benign	Het
Kat6a	T	G	8: 23,428,028 (GRCm39)	S1128A	probably benign	Het
Madd	T	C	2: 90,992,420 (GRCm39)	E1041G	possibly damaging	Het
Mcm3	CT	CTT	1: 20,878,972 (GRCm39)		probably null	Het
Mfsd5	G	A	15: 102,189,513 (GRCm39)	G295D	possibly damaging	Het
Minar1	A	T	9: 89,483,125 (GRCm39)	N757K	probably benign	Het
Mmp20	T	A	9: 7,628,378 (GRCm39)		probably null	Het
Mybphl	T	C	3: 108,282,070 (GRCm39)	V100A	probably benign	Het
Ndfip2	T	A	14: 105,539,750 (GRCm39)		probably null	Het
Or7e170	A	G	9: 19,795,484 (GRCm39)	V39A	probably benign	Het
Or7e175	T	A	9: 20,049,228 (GRCm39)	V272E	probably benign	Het
Or8b1c	T	A	9: 38,384,831 (GRCm39)	S263T	possibly damaging	Het
Phf19	T	G	2: 34,787,135 (GRCm39)	D443A	probably damaging	Het
Piezo1	A	G	8: 123,234,394 (GRCm39)	V84A	probably damaging	Het
Septin9	A	G	11: 117,243,094 (GRCm39)	I94V	probably benign	Het
Slc35a1	C	A	4: 34,675,032 (GRCm39)	V132L	probably benign	Het
Sntg1	G	A	1: 8,484,494 (GRCm39)	S442L	probably benign	Het
Tcf25	A	G	8: 124,108,196 (GRCm39)	T84A	probably benign	Het
Tchhl1	C	G	3: 93,378,863 (GRCm39)	S522R	probably damaging	Het
Tmem106b	A	G	6: 13,075,041 (GRCm39)	E76G	probably damaging	Het
Tnk2	C	T	16: 32,499,482 (GRCm39)	P932S	probably benign	Het
Trib1	G	A	15: 59,526,350 (GRCm39)	V307I	probably benign	Het
Trib3	A	T	2: 152,185,215 (GRCm39)	D11E	probably benign	Het
Trim34b	T	C	7: 103,980,640 (GRCm39)	S243P	possibly damaging	Het
Vmn2r50	A	G	7: 9,781,905 (GRCm39)	I280T	probably damaging	Het
Zfp1010	A	T	2: 176,956,765 (GRCm39)	C244*	probably null	Het
Zfp445	G	T	9: 122,682,211 (GRCm39)	Q577K	probably benign	Het
Zfp599	T	C	9: 22,160,957 (GRCm39)	K403E	probably damaging	Het

Other mutations in Ing2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Ing2	APN	8	48,122,296 (GRCm39)	missense	possibly damaging	0.92
IGL01791:Ing2	APN	8	48,122,070 (GRCm39)	missense	probably benign	0.02
IGL02477:Ing2	APN	8	48,122,303 (GRCm39)	missense	possibly damaging	0.95
PIT4418001:Ing2	UTSW	8	48,122,125 (GRCm39)	missense	probably benign	0.03
R0315:Ing2	UTSW	8	48,122,125 (GRCm39)	missense	probably benign	0.06
R1793:Ing2	UTSW	8	48,122,364 (GRCm39)	missense	probably damaging	1.00
R5521:Ing2	UTSW	8	48,122,248 (GRCm39)	missense	probably damaging	1.00
R5821:Ing2	UTSW	8	48,121,861 (GRCm39)	missense	probably benign	0.32
R6222:Ing2	UTSW	8	48,121,966 (GRCm39)	missense	possibly damaging	0.95
R6378:Ing2	UTSW	8	48,122,293 (GRCm39)	missense	probably benign	0.32
R7031:Ing2	UTSW	8	48,121,858 (GRCm39)	missense	probably benign	0.31
R7243:Ing2	UTSW	8	48,127,574 (GRCm39)	missense	probably damaging	0.98
R7819:Ing2	UTSW	8	48,122,063 (GRCm39)	missense	probably damaging	1.00
R9080:Ing2	UTSW	8	48,121,808 (GRCm39)	missense	possibly damaging	0.82
R9386:Ing2	UTSW	8	48,127,561 (GRCm39)	missense	probably benign	0.03
R9757:Ing2	UTSW	8	48,128,075 (GRCm39)	start gained	probably benign
X0036:Ing2	UTSW	8	48,127,542 (GRCm39)	missense	probably null	0.94

Predicted Primers

PCR Primer
(F):5'- GGGACACTGTTCATTGTCACAG -3'
(R):5'- TCAGATTGTCACCCAGATGC -3'

Sequencing Primer
(F):5'- GACACTGTTCATTGTCACAGCCTATC -3'
(R):5'- GATTGTCACCCAGATGCTCGAATTG -3'

Posted On

2016-11-21