Mutagenetix > Incidental Mutation

Incidental Mutation 'R6222:Ing2'

504081

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

044353-MU

Accession Numbers

Essential gene?

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

Stock #

R6222 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48120213-48128591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48121966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 194 (K194R)

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: K194R

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079226
Gene: ENSMUSG00000063049
AA Change: K194R

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,531,923 (GRCm39)	*217W	probably null	Het
Abcc3	A	G	11: 94,259,431 (GRCm39)	F337L	probably benign	Het
Abcc4	T	A	14: 118,767,368 (GRCm39)	H903L	probably damaging	Het
Akap7	T	A	10: 25,159,844 (GRCm39)	K119*	probably null	Het
Als2	T	C	1: 59,219,284 (GRCm39)	D1222G	probably benign	Het
Ano4	T	C	10: 88,863,084 (GRCm39)	Y296C	probably damaging	Het
Arid1b	A	G	17: 5,377,922 (GRCm39)		probably null	Het
Arl10	T	C	13: 54,726,644 (GRCm39)	F141L	probably damaging	Het
B130006D01Rik	T	C	11: 95,616,988 (GRCm39)		probably benign	Het
Bbs9	T	A	9: 22,479,147 (GRCm39)	S197T	possibly damaging	Het
Bicd1	A	T	6: 149,414,463 (GRCm39)	D392V	probably damaging	Het
Bmi1	T	A	2: 18,688,513 (GRCm39)	M168K	possibly damaging	Het
C7	A	T	15: 5,041,423 (GRCm39)	D494E	possibly damaging	Het
Cacna1s	A	T	1: 136,032,360 (GRCm39)	N1221I	probably benign	Het
Cacng7	A	G	7: 3,385,128 (GRCm39)	T10A	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdpf1	T	C	15: 85,691,643 (GRCm39)	R108G	possibly damaging	Het
Ceacam5	A	T	7: 17,479,472 (GRCm39)	K196N	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Cma2	T	C	14: 56,210,649 (GRCm39)	I112T	possibly damaging	Het
Cntnap4	A	G	8: 113,569,353 (GRCm39)	S916G	probably damaging	Het
Cwf19l2	T	A	9: 3,454,569 (GRCm39)	Y627*	probably null	Het
Fam204a	A	G	19: 60,188,400 (GRCm39)		probably null	Het
Galnt1	T	A	18: 24,397,591 (GRCm39)		probably null	Het
Gbe1	T	C	16: 70,325,900 (GRCm39)		probably null	Het
Gm6871	C	T	7: 41,196,006 (GRCm39)	D244N	probably damaging	Het
Gna15	T	C	10: 81,347,880 (GRCm39)	T189A	probably damaging	Het
Igsf10	C	T	3: 59,226,336 (GRCm39)	D2446N	possibly damaging	Het
Ino80d	G	A	1: 63,097,684 (GRCm39)	H737Y	probably damaging	Het
Izumo4	C	T	10: 80,538,885 (GRCm39)	R83W	probably damaging	Het
Kcnt1	G	A	2: 25,782,522 (GRCm39)	V219M	probably damaging	Het
Kiz	A	T	2: 146,732,981 (GRCm39)	S386C	probably damaging	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Or2ad1	T	C	13: 21,327,047 (GRCm39)	Y60C	probably damaging	Het
Or4c100	T	C	2: 88,329,614 (GRCm39)	Y62H	probably benign	Het
Pdzd2	T	C	15: 12,374,652 (GRCm39)	K1828E	probably damaging	Het
Prl3a1	T	C	13: 27,460,097 (GRCm39)	F194L	probably benign	Het
Prss1l	A	T	6: 41,374,100 (GRCm39)	Y234F	probably damaging	Het
Reg1	A	T	6: 78,404,357 (GRCm39)	Q77L	probably benign	Het
Ruvbl2	G	T	7: 45,074,149 (GRCm39)	D248E	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Serpinb5	T	A	1: 106,798,070 (GRCm39)	C20S	probably benign	Het
Sh2d4b	A	C	14: 40,542,694 (GRCm39)	S361A	probably damaging	Het
Snx2	T	A	18: 53,332,896 (GRCm39)	L190*	probably null	Het
Sorcs3	A	T	19: 48,748,296 (GRCm39)	Y755F	possibly damaging	Het
Styxl2	G	T	1: 165,926,214 (GRCm39)	Q1133K	probably benign	Het
Tiam2	A	G	17: 3,503,613 (GRCm39)	Q930R	probably damaging	Het
Tll1	C	A	8: 64,551,568 (GRCm39)	G271V	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Tmem181a	T	C	17: 6,351,192 (GRCm39)	V367A	probably benign	Het
Umodl1	T	C	17: 31,221,866 (GRCm39)		probably null	Het
Virma	C	T	4: 11,527,820 (GRCm39)	A1187V	probably damaging	Het
Wdr53	T	C	16: 32,075,482 (GRCm39)	V229A	probably benign	Het
Zcchc10	T	C	11: 53,223,289 (GRCm39)		probably benign	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
R5821:Ing2	UTSW	8	48,121,861 (GRCm39)	missense	probably benign	0.32
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'- GGGCAATACCATTTCCCCTTG -3'
(R):5'- AGTGTTTCCAGGATCCTGCTG -3'

Sequencing Primer
(F):5'- CTTGGGTTTATAGGTGAGTGAAACAC -3'
(R):5'- TCCAGGATCCTGCTGAAAGTG -3'

Posted On

2018-02-28