Mutagenetix > Incidental Mutation

Incidental Mutation 'R5521:Ing2'

431549

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

043080-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

R5521 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48120213-48128591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48122248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 100 (E100G)

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 damaging
Transcript: ENSMUST00000080353
AA Change: E100G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079226
Gene: ENSMUSG00000063049
AA Change: E100G

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

0.6367

Coding Region Coverage

1x: 99.1%
3x: 97.5%
10x: 94.4%
20x: 87.5%

Validation Efficiency

94% (72/77)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,190,980 (GRCm39)		probably benign	Het
Abhd14a	G	T	9: 106,321,033 (GRCm39)	D107E	probably damaging	Het
Acat1	T	A	9: 53,494,807 (GRCm39)	K362*	probably null	Het
Adad2	T	A	8: 120,339,528 (GRCm39)	S3R	probably benign	Het
Adcy8	C	A	15: 64,687,199 (GRCm39)	R435M	probably damaging	Het
Adgrv1	A	T	13: 81,567,508 (GRCm39)	S5222T	probably benign	Het
Ankk1	A	T	9: 49,331,748 (GRCm39)	M182K	probably benign	Het
Apba1	C	T	19: 23,870,957 (GRCm39)	P263L	probably damaging	Het
Arhgap39	G	A	15: 76,649,694 (GRCm39)	S26L	possibly damaging	Het
Ccng1	G	A	11: 40,643,093 (GRCm39)	T118I	possibly damaging	Het
Cenpe	T	C	3: 134,974,826 (GRCm39)	S2329P	probably damaging	Het
Chil4	A	G	3: 106,111,013 (GRCm39)	Y294H	possibly damaging	Het
Chst8	A	C	7: 34,374,670 (GRCm39)	S390A	probably benign	Het
Dars1	T	C	1: 128,301,710 (GRCm39)	D308G	probably benign	Het
Dlec1	A	C	9: 118,972,469 (GRCm39)	Q1458P	possibly damaging	Het
Dvl2	G	A	11: 69,897,233 (GRCm39)	E312K	probably damaging	Het
Fchsd1	T	C	18: 38,099,537 (GRCm39)	H219R	probably damaging	Het
Foxd4	A	C	19: 24,877,007 (GRCm39)	C398G	probably damaging	Het
Gm10719	T	A	9: 3,018,970 (GRCm39)	F72I	probably damaging	Het
Gm5414	T	C	15: 101,536,422 (GRCm39)	I68V	probably benign	Het
Gmip	C	T	8: 70,270,049 (GRCm39)	T684I	probably damaging	Het
Gpr137c	T	C	14: 45,516,151 (GRCm39)	I295T	possibly damaging	Het
Hivep1	T	A	13: 42,311,804 (GRCm39)	M1348K	probably damaging	Het
Igkv6-23	T	C	6: 70,237,597 (GRCm39)	D48G	probably benign	Het
Il3	G	A	11: 54,157,958 (GRCm39)	T40M	possibly damaging	Het
Itpr3	C	A	17: 27,326,308 (GRCm39)	H1359Q	probably benign	Het
Lama1	T	A	17: 68,087,889 (GRCm39)	Y1502*	probably null	Het
Mamdc2	C	A	19: 23,288,302 (GRCm39)	G579W	probably damaging	Het
Mapk6	G	A	9: 75,300,598 (GRCm39)		probably benign	Het
Mapk8ip2	C	T	15: 89,343,007 (GRCm39)	R616W	probably damaging	Het
Mc5r	T	A	18: 68,472,748 (GRCm39)	L369H	possibly damaging	Het
Meis1	T	C	11: 18,938,260 (GRCm39)		probably benign	Het
Mmp8	A	G	9: 7,560,644 (GRCm39)	K107R	probably benign	Het
Mn1	C	T	5: 111,569,635 (GRCm39)	H1202Y	possibly damaging	Het
Naip2	A	G	13: 100,291,422 (GRCm39)	L1172P	probably damaging	Het
Nek9	C	T	12: 85,374,219 (GRCm39)	D273N	probably benign	Het
Nlrp4e	A	T	7: 23,021,190 (GRCm39)	D559V	probably benign	Het
Nlrp4g	T	C	9: 124,350,020 (GRCm38)		noncoding transcript	Het
Oit3	G	T	10: 59,271,736 (GRCm39)	A207E	probably benign	Het
Or13j1	A	T	4: 43,705,788 (GRCm39)	M260K	possibly damaging	Het
Or14a257	A	T	7: 86,137,839 (GRCm39)	C307S	probably benign	Het
Or4d2b	A	T	11: 87,780,545 (GRCm39)	M59K	probably damaging	Het
Or5w16	A	G	2: 87,577,406 (GRCm39)	I289V	probably benign	Het
Pde4c	T	C	8: 71,200,031 (GRCm39)		probably null	Het
Ppp1r26	A	G	2: 28,341,438 (GRCm39)	E356G	probably benign	Het
Pramel13	A	G	4: 144,122,541 (GRCm39)	M1T	probably null	Het
Ptges3-ps	T	A	6: 85,821,303 (GRCm39)		noncoding transcript	Het
Ptpn13	T	G	5: 103,649,294 (GRCm39)	F232L	probably benign	Het
Reps1	T	C	10: 17,979,982 (GRCm39)	S114P	probably damaging	Het
Scarf2	T	A	16: 17,621,466 (GRCm39)		probably null	Het
Sdha	A	T	13: 74,498,218 (GRCm39)		probably benign	Het
Secisbp2l	A	T	2: 125,594,897 (GRCm39)	V146D	possibly damaging	Het
Slc26a8	T	A	17: 28,873,833 (GRCm39)	T385S	probably benign	Het
Slc4a1	G	A	11: 102,244,092 (GRCm39)	T679M	probably benign	Het
Tbc1d14	T	A	5: 36,677,896 (GRCm39)	E353V	probably damaging	Het
Thap2	T	A	10: 115,208,665 (GRCm39)	K152*	probably null	Het
Thbd	A	T	2: 148,249,655 (GRCm39)	I71N	probably damaging	Het
V1ra8	T	A	6: 90,180,036 (GRCm39)	W80R	probably damaging	Het
Vmn1r218	A	G	13: 23,320,743 (GRCm39)	Y30C	probably benign	Het
Vmn2r60	C	A	7: 41,845,049 (GRCm39)	T804K	probably damaging	Het
Vmn2r68	A	T	7: 84,882,926 (GRCm39)	D275E	probably benign	Het
Vps13c	A	G	9: 67,858,721 (GRCm39)	I2724V	probably benign	Het
Xrcc5	C	A	1: 72,385,430 (GRCm39)	P507Q	probably damaging	Het
Zfp120	A	T	2: 149,959,499 (GRCm39)	Y274*	probably null	Het
Zfp780b	C	A	7: 27,674,173 (GRCm39)		probably null	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
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
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'- TAAGTCACGGCTCTCACTGGTC -3'
(R):5'- CGTATACATAAATGTGCTTTCCTGC -3'

Sequencing Primer
(F):5'- ACTGGTCCTCTGTCTTCGAGG -3'
(R):5'- ATGTGCTTTCCTGCTTTAATTCTAAC -3'

Posted On

2016-10-05