Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Ing3'

435448

Institutional Source

Beutler Lab

Gene Symbol

Ing3

Ensembl Gene

ENSMUSG00000029670

Gene Name

inhibitor of growth family, member 3

Synonyms

P47ING3, 1300013A07Rik

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21949570-21976037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21968908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 130 (H130R)

Ref Sequence

ENSEMBL: ENSMUSP00000120651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031680] [ENSMUST00000115389] [ENSMUST00000136200] [ENSMUST00000149728] [ENSMUST00000151473] [ENSMUST00000152877]

AlphaFold

Q8VEK6

Predicted Effect

probably benign
Transcript: ENSMUST00000031680
AA Change: H154R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031680
Gene: ENSMUSG00000029670
AA Change: H154R

Domain	Start	End	E-Value	Type
Pfam:ING	3	104	2.7e-31	PFAM
low complexity region	214	239	N/A	INTRINSIC
low complexity region	308	345	N/A	INTRINSIC
PHD	365	410	4e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115389

SMART Domains

Protein: ENSMUSP00000111047
Gene: ENSMUSG00000029670

Domain	Start	End	E-Value	Type
Pfam:ING	2	104	1.5e-33	PFAM
low complexity region	203	228	N/A	INTRINSIC
low complexity region	297	334	N/A	INTRINSIC
PHD	354	399	6.39e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136200

SMART Domains

Protein: ENSMUSP00000138656
Gene: ENSMUSG00000029670

Domain	Start	End	E-Value	Type
Pfam:ING	2	41	1.5e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144534

Predicted Effect

probably benign
Transcript: ENSMUST00000149728

SMART Domains

Protein: ENSMUSP00000145391
Gene: ENSMUSG00000029670

Domain	Start	End	E-Value	Type
Pfam:ING	1	89	6.8e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151473
AA Change: H130R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120651
Gene: ENSMUSG00000029670
AA Change: H130R

Domain	Start	End	E-Value	Type
Pfam:ING	2	80	1.9e-19	PFAM
low complexity region	190	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152877

SMART Domains

Protein: ENSMUSP00000138244
Gene: ENSMUSG00000029670

Domain	Start	End	E-Value	Type
Pfam:ING	2	89	1.5e-27	PFAM

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,767,501 (GRCm39)	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,764,949 (GRCm39)	N646K	probably benign	Het
Abi2	C	A	1: 60,478,071 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,863,651 (GRCm39)	S35P	probably benign	Het
B4galt3	A	G	1: 171,100,089 (GRCm39)		probably null	Het
Bag5	T	C	12: 111,676,524 (GRCm39)	N433S	probably benign	Het
Birc7	T	A	2: 180,574,772 (GRCm39)	V218D	probably benign	Het
Catsperg1	T	G	7: 28,895,296 (GRCm39)	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,728,976 (GRCm39)	T179P	probably damaging	Het
Col4a3	C	T	1: 82,692,968 (GRCm39)		probably benign	Het
Crlf1	A	G	8: 70,951,317 (GRCm39)	I65M	probably benign	Het
Dennd4a	T	G	9: 64,811,509 (GRCm39)	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dlg4	C	T	11: 69,933,106 (GRCm39)	P504L	probably damaging	Het
Dop1b	A	G	16: 93,560,819 (GRCm39)	T886A	probably damaging	Het
Dst	T	A	1: 34,321,667 (GRCm39)	V4394E	probably damaging	Het
Endov	T	C	11: 119,393,186 (GRCm39)	M112T	possibly damaging	Het
Eps8	T	C	6: 137,456,094 (GRCm39)	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,771,791 (GRCm39)	Y7*	probably null	Het
Farsb	C	T	1: 78,445,888 (GRCm39)		probably null	Het
Fasn	A	G	11: 120,703,252 (GRCm39)	M1591T	probably benign	Het
Fbn2	C	T	18: 58,248,731 (GRCm39)	A384T	probably benign	Het
Fnta	T	C	8: 26,489,564 (GRCm39)	D349G	probably damaging	Het
Glis3	G	T	19: 28,241,409 (GRCm39)	H842N	probably benign	Het
Gm17067	G	A	7: 42,357,945 (GRCm39)	P186S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hk3	A	T	13: 55,159,888 (GRCm39)	L362*	probably null	Het
Inpp4b	A	T	8: 82,678,888 (GRCm39)	Q306L	probably damaging	Het
Kcnq2	T	C	2: 180,776,690 (GRCm39)	K66E	probably benign	Het
Kif21b	C	A	1: 136,097,797 (GRCm39)	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,808,003 (GRCm39)	N84Y	probably damaging	Het
Mill2	T	A	7: 18,589,884 (GRCm39)	Y55*	probably null	Het
Mmachc	T	C	4: 116,563,097 (GRCm39)	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259 (GRCm39)	V524A	probably benign	Het
Or10ag54	A	T	2: 87,099,736 (GRCm39)	T204S	possibly damaging	Het
Or1q1	T	A	2: 36,887,358 (GRCm39)	C179S	probably damaging	Het
Or4c102	G	A	2: 88,422,897 (GRCm39)	V250M	probably damaging	Het
Or5af1	G	A	11: 58,722,813 (GRCm39)	V278I	probably benign	Het
Or5b101	C	A	19: 13,005,004 (GRCm39)	A230S	probably benign	Het
Or7g19	T	C	9: 18,856,466 (GRCm39)	I174T	possibly damaging	Het
Pigu	G	T	2: 155,120,549 (GRCm39)	Y404*	probably null	Het
Plaa	A	T	4: 94,472,244 (GRCm39)		probably null	Het
Plcg2	A	T	8: 118,313,296 (GRCm39)	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,867,580 (GRCm39)	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,000 (GRCm39)	V1030D	probably benign	Het
Raver2	C	A	4: 100,993,336 (GRCm39)	S505R	probably benign	Het
Samd7	A	T	3: 30,810,769 (GRCm39)	Q262L	probably benign	Het
Scn9a	T	A	2: 66,377,447 (GRCm39)	N412Y	probably damaging	Het
Sytl1	C	A	4: 132,986,667 (GRCm39)	R91M	probably damaging	Het
Tead3	A	T	17: 28,555,244 (GRCm39)		probably benign	Het
Tgm1	A	G	14: 55,943,100 (GRCm39)	M580T	probably benign	Het
Themis	A	T	10: 28,657,882 (GRCm39)	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,086,466 (GRCm39)	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 84,894,144 (GRCm39)	V695A	probably damaging	Het
Trim23	A	T	13: 104,324,017 (GRCm39)	T159S	probably damaging	Het
Trim66	T	C	7: 109,082,944 (GRCm39)	Y166C	probably benign	Het
Troap	A	T	15: 98,973,675 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	C	2: 76,720,734 (GRCm39)		probably null	Het
Tub	T	G	7: 108,624,925 (GRCm39)	S180A	probably damaging	Het
Vcan	A	G	13: 89,851,231 (GRCm39)	V1243A	possibly damaging	Het
Zfp608	T	C	18: 55,120,942 (GRCm39)	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,944,345 (GRCm39)	V1021E	probably damaging	Het
Zim1	T	A	7: 6,680,710 (GRCm39)	I318F	probably damaging	Het

Other mutations in Ing3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01721:Ing3	APN	6	21,968,879 (GRCm39)	splice site	probably benign
IGL02330:Ing3	APN	6	21,952,120 (GRCm39)	missense	probably benign	0.00
IGL02668:Ing3	APN	6	21,950,058 (GRCm39)	missense	probably damaging	0.98
IGL02897:Ing3	APN	6	21,969,325 (GRCm39)	missense	probably benign	0.14
IGL03065:Ing3	APN	6	21,971,221 (GRCm39)	missense	probably benign
R0076:Ing3	UTSW	6	21,952,170 (GRCm39)	missense	probably benign
R0513:Ing3	UTSW	6	21,970,034 (GRCm39)	missense	probably damaging	0.98
R0711:Ing3	UTSW	6	21,971,236 (GRCm39)	nonsense	probably null
R2369:Ing3	UTSW	6	21,950,090 (GRCm39)	missense	probably damaging	0.98
R4660:Ing3	UTSW	6	21,973,710 (GRCm39)	utr 3 prime	probably benign
R4672:Ing3	UTSW	6	21,965,729 (GRCm39)	splice site	probably null
R5682:Ing3	UTSW	6	21,968,949 (GRCm39)	missense	probably damaging	0.98
R5773:Ing3	UTSW	6	21,971,834 (GRCm39)	missense	probably damaging	1.00
R5774:Ing3	UTSW	6	21,967,688 (GRCm39)	missense	probably benign
R5914:Ing3	UTSW	6	21,968,904 (GRCm39)	missense	probably benign	0.18
R5976:Ing3	UTSW	6	21,971,173 (GRCm39)	missense	probably benign	0.09
R6265:Ing3	UTSW	6	21,953,813 (GRCm39)	missense	probably damaging	0.99
R7239:Ing3	UTSW	6	21,952,193 (GRCm39)	missense	probably damaging	0.99
R7526:Ing3	UTSW	6	21,953,798 (GRCm39)	missense	probably damaging	1.00
R8112:Ing3	UTSW	6	21,952,181 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACCACGTGACAAAGACTG -3'
(R):5'- ATCATGTAGACTTCAGAGGTAGCAC -3'

Sequencing Primer
(F):5'- AAAGACTGTTTGCTTGTCCCC -3'
(R):5'- TGGATTATAATCTTGAGCGCTCC -3'

Posted On

2016-10-24