Mutagenetix > Incidental Mutation

Incidental Mutation 'R5821:Ing2'

449942

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

043401-MU

Accession Numbers

Essential gene?

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

Stock #

R5821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48120213-48128591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 48121861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 229 (C229S)

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

probably benign
Transcript: ENSMUST00000080353
AA Change: C229S

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079226
Gene: ENSMUSG00000063049
AA Change: C229S

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

Meta Mutation Damage Score

0.9746

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

100% (55/55)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,686,458 (GRCm39)	V278D	possibly damaging	Het
Acacb	A	G	5: 114,322,167 (GRCm39)	D227G	possibly damaging	Het
Akap9	A	G	5: 4,096,064 (GRCm39)	E2313G	probably benign	Het
Cchcr1	A	T	17: 35,839,745 (GRCm39)	E564D	probably damaging	Het
Cers2	G	A	3: 95,229,008 (GRCm39)		probably benign	Het
Cfap161	A	G	7: 83,425,188 (GRCm39)	I301T	probably benign	Het
Ciita	A	T	16: 10,329,669 (GRCm39)	E648V	possibly damaging	Het
Cir1	C	T	2: 73,142,804 (GRCm39)	C10Y	probably damaging	Het
Clasp1	T	A	1: 118,518,214 (GRCm39)	F1087I	probably damaging	Het
Cped1	C	A	6: 22,138,681 (GRCm39)	F415L	probably benign	Het
Dnah7b	A	G	1: 46,181,292 (GRCm39)	T1060A	possibly damaging	Het
Epha5	G	T	5: 84,232,587 (GRCm39)	P809H	probably damaging	Het
Fuca1	T	A	4: 135,650,273 (GRCm39)		probably null	Het
Galnt2l	A	T	8: 123,627,372 (GRCm39)	*98R	probably null	Het
Gm26796	G	A	12: 80,805,564 (GRCm39)	R237C	unknown	Het
Idua	A	G	5: 108,827,600 (GRCm39)	Y138C	probably benign	Het
Ighd	A	T	12: 113,373,253 (GRCm39)	L240H	probably benign	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kctd8	A	T	5: 69,267,828 (GRCm39)	N427K	probably benign	Het
Kif16b	T	C	2: 142,544,586 (GRCm39)	E1147G	probably damaging	Het
Kif18a	G	A	2: 109,120,190 (GRCm39)		probably benign	Het
Krt82	T	A	15: 101,456,820 (GRCm39)	R187*	probably null	Het
Lrrk2	T	C	15: 91,593,593 (GRCm39)		probably null	Het
M1ap	T	C	6: 82,945,083 (GRCm39)	Y126H	probably benign	Het
Mmel1	A	G	4: 154,970,044 (GRCm39)	N226D	possibly damaging	Het
Mtmr11	A	G	3: 96,075,185 (GRCm39)	D353G	possibly damaging	Het
Nfkbia	A	T	12: 55,538,005 (GRCm39)	H149Q	probably damaging	Het
Nr5a1	A	T	2: 38,598,511 (GRCm39)	F95L	probably damaging	Het
Nutm2	A	G	13: 50,623,891 (GRCm39)	Y196C	probably benign	Het
Oxtr	A	G	6: 112,466,457 (GRCm39)	I101T	probably damaging	Het
Pcsk2	T	A	2: 143,591,035 (GRCm39)		probably null	Het
Pde5a	T	C	3: 122,611,604 (GRCm39)	I514T	probably benign	Het
Pign	A	G	1: 105,516,788 (GRCm39)	W585R	possibly damaging	Het
Pomgnt1	A	G	4: 116,012,933 (GRCm39)	S407G	probably benign	Het
Ppfia3	G	A	7: 45,003,040 (GRCm39)	T372I	probably damaging	Het
Prrc2b	A	T	2: 32,102,144 (GRCm39)	E739V	probably damaging	Het
Ro60	A	G	1: 143,642,503 (GRCm39)	V209A	probably benign	Het
Scn7a	T	C	2: 66,574,047 (GRCm39)	E192G	probably damaging	Het
Slmap	T	C	14: 26,183,435 (GRCm39)	D316G	probably damaging	Het
Smim8	GGTTTAATGAAGAG	GG	4: 34,771,259 (GRCm39)		probably benign	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Tgm2	T	A	2: 157,984,974 (GRCm39)	Y44F	possibly damaging	Het
Tmc8	C	A	11: 117,683,455 (GRCm39)	S670*	probably null	Het
Tmem145	A	G	7: 25,014,946 (GRCm39)	D523G	probably benign	Het
Vmn2r115	G	A	17: 23,566,937 (GRCm39)	G483E	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
R5759:Ing2	UTSW	8	48,122,040 (GRCm39)	missense	possibly damaging	0.71
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'- GAACCCTTTAAAACCGATGGCC -3'
(R):5'- CCAGTGAGAGCCGTGACTTATG -3'

Sequencing Primer
(F):5'- TTTAAAACCGATGGCCTTCAC -3'
(R):5'- TCACATGACAAACGGGATTGAC -3'

Posted On

2016-12-20