Mutagenetix > Incidental Mutation

Incidental Mutation 'R5682:Ing3'

443104

Institutional Source

Beutler Lab

Gene Symbol

Ing3

Ensembl Gene

ENSMUSG00000029670

Gene Name

inhibitor of growth family, member 3

Synonyms

P47ING3, 1300013A07Rik

MMRRC Submission

043318-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21949570-21976037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21968949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 144 (S144P)

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: S168P

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031680
Gene: ENSMUSG00000029670
AA Change: S168P

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

possibly damaging
Transcript: ENSMUST00000115389
AA Change: S157P

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111047
Gene: ENSMUSG00000029670
AA Change: S157P

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

noncoding transcript
Transcript: ENSMUST00000136161
AA Change: I156T

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

probably damaging
Transcript: ENSMUST00000151473
AA Change: S144P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120651
Gene: ENSMUSG00000029670
AA Change: S144P

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

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,283,723 (GRCm39)	S7T	probably benign	Het
Acot4	G	A	12: 84,085,576 (GRCm39)	V98M	probably damaging	Het
Acsm2	A	T	7: 119,162,774 (GRCm39)	N41I	probably benign	Het
Adamtsl3	A	T	7: 82,255,758 (GRCm39)	N1590I	probably damaging	Het
Ank3	G	A	10: 69,729,347 (GRCm39)	G714R	probably damaging	Het
Armh4	T	C	14: 49,989,043 (GRCm39)	D642G	probably damaging	Het
Ash1l	G	A	3: 88,914,914 (GRCm39)	R1848Q	probably damaging	Het
Atp1a4	A	T	1: 172,081,730 (GRCm39)	Y141N	probably damaging	Het
Atxn3	A	T	12: 101,924,406 (GRCm39)	I1N	probably damaging	Het
Avil	A	C	10: 126,849,973 (GRCm39)	Q608P	probably damaging	Het
Axin1	T	C	17: 26,406,775 (GRCm39)	V456A	probably benign	Het
Cacna1g	A	G	11: 94,349,940 (GRCm39)	L635P	probably damaging	Het
Card11	G	A	5: 140,888,666 (GRCm39)	Q231*	probably null	Het
Ccdc162	G	A	10: 41,432,799 (GRCm39)	R500*	probably null	Het
Cdh24	T	C	14: 54,874,805 (GRCm39)	D400G	probably damaging	Het
Cep112	T	C	11: 108,361,138 (GRCm39)	L164P	probably damaging	Het
Corin	A	G	5: 72,579,497 (GRCm39)	S224P	possibly damaging	Het
Csgalnact2	T	C	6: 118,097,953 (GRCm39)	Y371C	probably damaging	Het
Cspg4	A	T	9: 56,793,480 (GRCm39)	E405V	probably benign	Het
Ctnna3	T	A	10: 64,709,085 (GRCm39)	M708K	probably damaging	Het
Cyp7a1	T	A	4: 6,268,429 (GRCm39)	Y432F	probably benign	Het
Dcaf11	T	A	14: 55,800,883 (GRCm39)	V113E	probably damaging	Het
Dhx29	T	C	13: 113,067,383 (GRCm39)	I88T	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Elmo2	A	G	2: 165,139,330 (GRCm39)	F406L	probably damaging	Het
Eps15l1	G	A	8: 73,125,592 (GRCm39)	Q648*	probably null	Het
Fam171a1	G	A	2: 3,227,126 (GRCm39)	R753Q	probably damaging	Het
Figla	T	A	6: 85,995,604 (GRCm39)	V86E	probably damaging	Het
Galnt7	C	A	8: 58,036,967 (GRCm39)	E141*	probably null	Het
Garnl3	A	G	2: 32,944,185 (GRCm39)	Y125H	probably damaging	Het
Gnb5	A	G	9: 75,234,523 (GRCm39)	D74G	probably damaging	Het
Grk1	A	T	8: 13,464,351 (GRCm39)	I408F	possibly damaging	Het
Has1	A	T	17: 18,064,425 (GRCm39)	W405R	possibly damaging	Het
Hdac5	A	G	11: 102,104,749 (GRCm39)		probably benign	Het
Helq	T	A	5: 100,933,170 (GRCm39)	M555L	probably benign	Het
Hipk2	T	C	6: 38,714,408 (GRCm39)	N556S	possibly damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Itgb1	G	A	8: 129,453,549 (GRCm39)		probably null	Het
Kcnh4	A	T	11: 100,640,628 (GRCm39)	M466K	possibly damaging	Het
Krit1	T	A	5: 3,880,737 (GRCm39)	N565K	probably damaging	Het
Limk1	A	C	5: 134,694,059 (GRCm39)		probably null	Het
Lrif1	T	C	3: 106,639,884 (GRCm39)	I323T	possibly damaging	Het
Macf1	T	C	4: 123,328,552 (GRCm39)	E1811G	probably damaging	Het
Mctp2	A	C	7: 71,895,207 (GRCm39)		probably null	Het
Mmp21	A	G	7: 133,276,358 (GRCm39)	I495T	probably benign	Het
Mpz	A	T	1: 170,986,463 (GRCm39)	T126S	possibly damaging	Het
Napsa	A	G	7: 44,234,768 (GRCm39)	Y301C	possibly damaging	Het
Ncbp1	T	A	4: 46,170,474 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,510,155 (GRCm39)	E47G	probably benign	Het
Or8b56	A	G	9: 38,739,424 (GRCm39)	I146V	probably benign	Het
Pcdha11	A	G	18: 37,144,502 (GRCm39)	K198E	probably damaging	Het
Pcdha3	A	G	18: 37,081,040 (GRCm39)	D594G	probably damaging	Het
Pdcd5	G	A	7: 35,346,613 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,865,685 (GRCm39)	S166T	probably benign	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Prkch	C	T	12: 73,744,724 (GRCm39)	H246Y	probably damaging	Het
Ptk2	A	T	15: 73,134,413 (GRCm39)	L562*	probably null	Het
Rab3ip	C	T	10: 116,743,008 (GRCm39)	W439*	probably null	Het
Rasef	T	A	4: 73,659,208 (GRCm39)	R435*	probably null	Het
Rnf103	C	T	6: 71,485,708 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,991,765 (GRCm39)	F388L	probably benign	Het
Sds	A	C	5: 120,621,784 (GRCm39)	S309R	possibly damaging	Het
Sgip1	T	A	4: 102,824,847 (GRCm39)	D736E	possibly damaging	Het
Sgms2	A	G	3: 131,118,611 (GRCm39)	Y291H	probably damaging	Het
Sgsm3	A	G	15: 80,895,661 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,925,930 (GRCm39)	I259F	probably damaging	Het
Sik2	G	A	9: 50,828,382 (GRCm39)	P220L	probably damaging	Het
Slc29a3	A	G	10: 60,551,991 (GRCm39)	V351A	probably benign	Het
Slc36a3	A	G	11: 55,016,489 (GRCm39)	S369P	probably benign	Het
Srgap1	A	T	10: 121,640,919 (GRCm39)	M649K	probably damaging	Het
Thnsl1	A	G	2: 21,216,879 (GRCm39)	E211G	possibly damaging	Het
Tmprss9	A	G	10: 80,733,207 (GRCm39)		probably null	Het
Tpgs1	G	A	10: 79,511,421 (GRCm39)	V188M	probably damaging	Het
Vmn1r201	G	T	13: 22,659,355 (GRCm39)	V190F	probably damaging	Het
Vmn1r64	A	T	7: 5,886,622 (GRCm39)	L307Q	possibly damaging	Het
Wbp11	T	C	6: 136,791,252 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,031,125 (GRCm39)	Y134C	probably damaging	Het
Zan	G	T	5: 137,412,521 (GRCm39)	C3263*	probably null	Het
Zc3h12c	G	T	9: 52,037,876 (GRCm39)	D301E	probably damaging	Het
Zfp365	A	C	10: 67,745,637 (GRCm39)	L47R	probably damaging	Het
Zmym6	C	T	4: 126,998,200 (GRCm39)	P412L	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
R5557:Ing3	UTSW	6	21,968,908 (GRCm39)	missense	possibly damaging	0.95
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'- ATCATCATGTAGACTTCAGAGGTAGC -3'

Sequencing Primer
(F):5'- GGTGAGCATAATGGTCCATTTCAC -3'
(R):5'- ACTTCAGAGGTAGCACATGTG -3'

Posted On

2016-11-09