Mutagenetix > Incidental Mutation

Incidental Mutation 'R2969:Ing4'

256057

Institutional Source

Beutler Lab

Gene Symbol

Ing4

Ensembl Gene

ENSMUSG00000030330

Gene Name

inhibitor of growth family, member 4

Synonyms

D6Xrf92, p29ING4, D6Wsu147e

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.600) question?

Stock #

R2969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125016811-125026228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125024288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 131 (K131E)

Ref Sequence

ENSEMBL: ENSMUSP00000121519 (fasta)

Gene Model

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

AlphaFold

Q8C0D7

Predicted Effect

probably benign
Transcript: ENSMUST00000032480
AA Change: S131G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032480
Gene: ENSMUSG00000030330
AA Change: S131G

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

probably benign
Transcript: ENSMUST00000140131
AA Change: K131E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000121519
Gene: ENSMUSG00000030330
AA Change: K131E

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133695

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: ENSMUST00000156091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205110

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,830,225 (GRCm39)	T137A	probably damaging	Het
Antxr2	A	T	5: 98,178,275 (GRCm39)	L45*	probably null	Het
Armc1	T	C	3: 19,189,024 (GRCm39)	S214G	probably benign	Het
Arsj	T	C	3: 126,233,021 (GRCm39)	I589T	probably benign	Het
C8a	A	G	4: 104,710,974 (GRCm39)	S230P	probably damaging	Het
Cnga3	A	G	1: 37,300,159 (GRCm39)	Y331C	probably damaging	Het
Gm21976	A	G	13: 98,423,790 (GRCm39)	Y33C	unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gtf2i	A	G	5: 134,280,746 (GRCm39)	V556A	probably damaging	Het
Ighv8-12	C	T	12: 115,611,570 (GRCm39)	R118Q	probably benign	Het
Mrgprb5	T	A	7: 47,818,317 (GRCm39)	R139S	probably damaging	Het
Nap1l2	A	T	X: 102,229,254 (GRCm39)	D221E	probably benign	Het
Nepn	A	T	10: 52,276,983 (GRCm39)	R179*	probably null	Het
Nrxn3	G	A	12: 89,321,241 (GRCm39)	C383Y	probably damaging	Het
Pfpl	G	T	19: 12,406,907 (GRCm39)	R386L	probably benign	Het
Rere	A	G	4: 150,654,673 (GRCm39)	K402E	unknown	Het
Serpina3n	C	T	12: 104,375,333 (GRCm39)	T135M	probably benign	Het
Slc43a1	C	T	2: 84,687,679 (GRCm39)	T395I	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Vmn1r128	T	A	7: 21,084,046 (GRCm39)	V250D	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
R4849:Ing4	UTSW	6	125,020,946 (GRCm39)	missense	probably damaging	0.98
R4955:Ing4	UTSW	6	125,025,164 (GRCm39)	missense	probably damaging	0.97
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'- TGTTTTCCTTGATCGGAGCC -3'
(R):5'- ACTTCTTCTGGGCAGCCTTG -3'

Sequencing Primer
(F):5'- CTTGATCGGAGCCAGGCTTG -3'
(R):5'- TCCCTTTGGAACGGGCTCTG -3'

Posted On

2014-12-29