Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03065:Ing3'

409641

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ing3

Ensembl Gene

ENSMUSG00000029670

Gene Name

inhibitor of growth family, member 3

Synonyms

P47ING3, 1300013A07Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL03065

Quality Score

Status

Chromosome

Chromosomal Location

21949570-21976037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21971221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 331 (A331T)

Ref Sequence

ENSEMBL: ENSMUSP00000111047 (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: A342T

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

SMART Domains

Protein: ENSMUSP00000031680
Gene: ENSMUSG00000029670
AA Change: A342T

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
AA Change: A331T

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

SMART Domains

Protein: ENSMUSP00000111047
Gene: ENSMUSG00000029670
AA Change: A331T

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

probably benign
Transcript: ENSMUST00000151473

SMART Domains

Protein: ENSMUSP00000120651
Gene: ENSMUSG00000029670

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	G	8: 84,665,143 (GRCm39)	M1322V	possibly damaging	Het
Adprh	C	T	16: 38,266,396 (GRCm39)	V249I	probably benign	Het
Afg2a	T	C	3: 37,486,328 (GRCm39)	V350A	possibly damaging	Het
Als2	T	C	1: 59,255,031 (GRCm39)	S109G	probably benign	Het
Bpifa1	T	A	2: 153,989,562 (GRCm39)	N250K	probably damaging	Het
Capn9	A	C	8: 125,332,298 (GRCm39)	Y423S	probably damaging	Het
Cd200r1	T	G	16: 44,614,645 (GRCm39)	V308G	probably benign	Het
Cic	T	C	7: 24,985,246 (GRCm39)		probably benign	Het
Col5a1	T	A	2: 27,922,757 (GRCm39)	I275N	possibly damaging	Het
Col6a4	C	A	9: 105,918,363 (GRCm39)		probably benign	Het
Cpeb1	T	C	7: 81,086,038 (GRCm39)	R35G	probably benign	Het
Cul1	A	G	6: 47,472,015 (GRCm39)	Y52C	probably damaging	Het
Dctn1	T	C	6: 83,169,475 (GRCm39)	F496L	probably damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Eaf2	C	T	16: 36,648,484 (GRCm39)	R12H	probably benign	Het
Gcc1	T	A	6: 28,418,401 (GRCm39)	Q644L	possibly damaging	Het
Gm44865	C	T	7: 108,165,004 (GRCm39)		probably benign	Het
Golgb1	C	T	16: 36,733,228 (GRCm39)	S825L	probably benign	Het
Gstp3	C	T	19: 4,108,730 (GRCm39)		probably null	Het
Heph	T	A	X: 95,571,173 (GRCm39)	I669N	probably benign	Het
Il12rb1	A	T	8: 71,273,202 (GRCm39)	Y635F	possibly damaging	Het
Ipo8	T	A	6: 148,686,205 (GRCm39)	I762F	probably benign	Het
Itpr3	G	A	17: 27,310,907 (GRCm39)	R510Q	probably damaging	Het
Kif16b	A	G	2: 142,461,833 (GRCm39)	Y1273H	probably damaging	Het
Map3k14	T	C	11: 103,115,927 (GRCm39)	E784G	probably damaging	Het
Mpdz	A	T	4: 81,210,802 (GRCm39)	N1694K	probably damaging	Het
Myh13	T	C	11: 67,235,679 (GRCm39)	F648S	probably damaging	Het
Myh4	A	G	11: 67,149,982 (GRCm39)	H1847R	probably benign	Het
Ncoa7	T	A	10: 30,523,993 (GRCm39)	D840V	probably damaging	Het
Nxpe2	T	A	9: 48,230,992 (GRCm39)	N459I	possibly damaging	Het
Or4d10c	C	A	19: 12,065,975 (GRCm39)	L60F	possibly damaging	Het
Or4k2	C	A	14: 50,424,465 (GRCm39)	D70Y	probably damaging	Het
Or4k47	T	C	2: 111,451,535 (GRCm39)	K295E	probably damaging	Het
Ovgp1	T	C	3: 105,893,682 (GRCm39)	F485S	probably benign	Het
Parp4	G	T	14: 56,875,326 (GRCm39)	A1182S	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pla2g15	G	A	8: 106,886,851 (GRCm39)	R114H	probably benign	Het
Plppr3	T	A	10: 79,701,880 (GRCm39)	T321S	probably benign	Het
Rnf113a1	A	G	X: 36,455,748 (GRCm39)	D235G	probably benign	Het
Rsrp1	A	G	4: 134,651,700 (GRCm39)	T155A	possibly damaging	Het
Simc1	G	T	13: 54,685,025 (GRCm39)	C87F	probably damaging	Het
Slco1a5	A	G	6: 142,194,569 (GRCm39)		probably benign	Het
Slco1a8	C	A	6: 141,938,228 (GRCm39)	L230F	probably damaging	Het
Smyd5	A	G	6: 85,419,146 (GRCm39)	D276G	possibly damaging	Het
Tmem132c	A	G	5: 127,640,688 (GRCm39)	Y953C	probably damaging	Het
Trank1	T	A	9: 111,219,361 (GRCm39)	S2033T	possibly damaging	Het
Trim69	A	G	2: 122,009,115 (GRCm39)	T392A	probably damaging	Het
Tsks	T	C	7: 44,592,724 (GRCm39)	V6A	probably damaging	Het
Yjefn3	A	G	8: 70,342,206 (GRCm39)		probably benign	Het
Zfp263	T	G	16: 3,564,344 (GRCm39)	D211E	probably benign	Het
Zfp994	A	T	17: 22,421,661 (GRCm39)	F51L	probably damaging	Het
Znfx1	A	T	2: 166,897,685 (GRCm39)	M413K	probably benign	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
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
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

Posted On

2016-08-02