Mutagenetix > Incidental Mutation

Incidental Mutation 'R4955:Ing4'

381528

Institutional Source

Beutler Lab

Gene Symbol

Ing4

Ensembl Gene

ENSMUSG00000030330

Gene Name

inhibitor of growth family, member 4

Synonyms

D6Xrf92, p29ING4, D6Wsu147e

MMRRC Submission

042552-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.600) question?

Stock #

R4955 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125016811-125026228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125025164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 225 (A225V)

Ref Sequence

ENSEMBL: ENSMUSP00000121519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032480] [ENSMUST00000032481] [ENSMUST00000088294] [ENSMUST00000112413] [ENSMUST00000112414] [ENSMUST00000112417] [ENSMUST00000140131]

AlphaFold

Q8C0D7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032480
AA Change: A224V

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032480
Gene: ENSMUSG00000030330
AA Change: A224V

Domain	Start	End	E-Value	Type
Pfam:ING	5	107	5.5e-35	PFAM
low complexity region	118	131	N/A	INTRINSIC
PHD	197	242	3.67e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000032481

SMART Domains

Protein: ENSMUSP00000032481
Gene: ENSMUSG00000072770

Domain	Start	End	E-Value	Type
Pfam:PBP_sp32	1	140	4.8e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088294

SMART Domains

Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770

Domain	Start	End	E-Value	Type
Pfam:PBP_sp32	1	239	1.6e-139	PFAM
KAZAL	466	506	1.42e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112412

SMART Domains

Protein: ENSMUSP00000108031
Gene: ENSMUSG00000072770

Domain	Start	End	E-Value	Type
Pfam:PBP_sp32	1	87	6.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112413

SMART Domains

Protein: ENSMUSP00000108032
Gene: ENSMUSG00000072770

Domain	Start	End	E-Value	Type
Pfam:PBP_sp32	1	169	6.2e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112414

SMART Domains

Protein: ENSMUSP00000108033
Gene: ENSMUSG00000072770

Domain	Start	End	E-Value	Type
Pfam:PBP_sp32	1	239	1.9e-138	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112417

SMART Domains

Protein: ENSMUSP00000108036
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	5	107	6.5e-35	PFAM
low complexity region	118	126	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133695

Predicted Effect

probably damaging
Transcript: ENSMUST00000140131
AA Change: A225V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121519
Gene: ENSMUSG00000030330
AA Change: A225V

Domain	Start	End	E-Value	Type
Pfam:ING	6	107	2.1e-35	PFAM
low complexity region	114	139	N/A	INTRINSIC
PHD	198	243	3.67e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152574

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140883

SMART Domains

Protein: ENSMUSP00000118561
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	5	107	1e-34	PFAM
low complexity region	118	131	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151125

SMART Domains

Protein: ENSMUSP00000119709
Gene: ENSMUSG00000030330

Domain	Start	End	E-Value	Type
Pfam:ING	5	107	1.4e-34	PFAM
low complexity region	118	131	N/A	INTRINSIC
PDB:1WEU\|A	167	216	3e-32	PDB
SCOP:d1fp0a1	190	216	2e-3	SMART
Blast:PHD	197	215	1e-7	BLAST

Meta Mutation Damage Score

0.4078

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor protein that contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are hypersensitive to LPS challenge and exhibit elevated cytokine responses. [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
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
4933407L21Rik	T	A	1: 85,859,008 (GRCm39)		probably benign	Het
Abca8a	T	G	11: 109,927,338 (GRCm39)	E1338D	probably benign	Het
Arl2bp	G	A	8: 95,397,056 (GRCm39)		probably null	Het
Arsj	T	C	3: 126,232,189 (GRCm39)	Y312H	probably benign	Het
Atp8b2	G	T	3: 89,860,227 (GRCm39)		probably benign	Het
Cdh20	T	C	1: 104,912,528 (GRCm39)	V594A	probably damaging	Het
Cfap44	T	A	16: 44,295,640 (GRCm39)	V1646E	possibly damaging	Het
Csmd3	A	T	15: 48,536,914 (GRCm39)	I96K	probably damaging	Het
Fbn2	T	C	18: 58,191,455 (GRCm39)	Q1556R	possibly damaging	Het
Fstl5	T	A	3: 76,131,183 (GRCm39)		probably null	Het
H4c9	T	A	13: 22,225,355 (GRCm39)	I47F	probably damaging	Het
Hivep2	T	A	10: 14,006,702 (GRCm39)	M1100K	probably benign	Het
Kcnc3	CTT	CT	7: 44,240,720 (GRCm39)		probably null	Het
Khdrbs2	T	A	1: 32,559,158 (GRCm39)		probably benign	Het
Kif21a	A	T	15: 90,821,393 (GRCm39)	W1566R	probably damaging	Het
Lrfn5	A	C	12: 61,886,764 (GRCm39)	D184A	probably benign	Het
Mettl2	C	T	11: 105,028,605 (GRCm39)	T319I	possibly damaging	Het
Mgrn1	T	C	16: 4,752,083 (GRCm39)	V529A	probably benign	Het
Naca	T	A	10: 127,878,084 (GRCm39)		probably benign	Het
Ninj2	A	G	6: 120,174,907 (GRCm39)	N26S	probably damaging	Het
Nqo1	A	G	8: 108,115,489 (GRCm39)	S263P	probably benign	Het
Obscn	T	C	11: 58,959,998 (GRCm39)	T3566A	probably benign	Het
Opn5	A	T	17: 42,922,129 (GRCm39)	F24L	probably damaging	Het
Or14j8	T	C	17: 38,263,789 (GRCm39)	N42S	probably damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4k41	A	T	2: 111,279,950 (GRCm39)	H155L	probably damaging	Het
Or52a20	A	T	7: 103,365,912 (GRCm39)	Y37F	probably benign	Het
Palmd	A	G	3: 116,717,873 (GRCm39)	V208A	probably damaging	Het
Plekhd1	T	A	12: 80,768,795 (GRCm39)	I426N	possibly damaging	Het
Polq	T	G	16: 36,881,444 (GRCm39)	Y1203D	probably benign	Het
Prex1	A	G	2: 166,415,143 (GRCm39)	F251S	probably damaging	Het
Prkd3	T	C	17: 79,260,156 (GRCm39)	M816V	probably null	Het
Rab3gap2	C	T	1: 184,999,352 (GRCm39)		probably benign	Het
Rcan2	C	A	17: 44,347,972 (GRCm39)	P13Q	probably damaging	Het
Slc35b3	A	G	13: 39,116,866 (GRCm39)	V329A	probably benign	Het
Slc5a1	T	C	5: 33,318,246 (GRCm39)	M633T	probably benign	Het
Stac2	A	C	11: 97,934,374 (GRCm39)	L110R	possibly damaging	Het
Styxl2	T	C	1: 165,935,661 (GRCm39)	Y179C	probably damaging	Het
Tecpr1	T	C	5: 144,154,075 (GRCm39)	E126G	probably damaging	Het
Ttll6	A	G	11: 96,029,615 (GRCm39)	D176G	possibly damaging	Het
Utrn	C	T	10: 12,737,311 (GRCm39)		probably null	Het
Zfp341	T	C	2: 154,479,950 (GRCm39)	V467A	probably damaging	Het

Other mutations in Ing4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01588:Ing4	APN	6	125,020,949 (GRCm39)	missense	possibly damaging	0.95
R0361:Ing4	UTSW	6	125,024,857 (GRCm39)	missense	probably damaging	1.00
R0830:Ing4	UTSW	6	125,020,923 (GRCm39)	missense	probably damaging	1.00
R2969:Ing4	UTSW	6	125,024,288 (GRCm39)	missense	probably benign	0.01
R4849:Ing4	UTSW	6	125,020,946 (GRCm39)	missense	probably damaging	0.98
R4971:Ing4	UTSW	6	125,020,961 (GRCm39)	missense	probably benign	0.01
R5141:Ing4	UTSW	6	125,016,837 (GRCm39)	missense	probably benign
R5561:Ing4	UTSW	6	125,024,023 (GRCm39)	missense	possibly damaging	0.86
R8708:Ing4	UTSW	6	125,024,895 (GRCm39)	missense	probably damaging	1.00
R9557:Ing4	UTSW	6	125,025,354 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATGTGAGAACCGTTTCCTCG -3'
(R):5'- GCGTGGGCAAAACCTAAAAC -3'

Sequencing Primer
(F):5'- CTCTGAGGGGCATGAGTAAG -3'
(R):5'- CTAAAACCCAACATGAAGGAGAG -3'

Posted On

2016-04-27