Mutagenetix > Incidental Mutation

Incidental Mutation 'R7239:Ing3'

563064

Institutional Source

Beutler Lab

Gene Symbol

Ing3

Ensembl Gene

ENSMUSG00000029670

Gene Name

inhibitor of growth family, member 3

Synonyms

P47ING3, 1300013A07Rik

MMRRC Submission

045346-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21949570-21976037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21952193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 56 (E56K)

Ref Sequence

ENSEMBL: ENSMUSP00000031680 (fasta)

Gene Model

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

AlphaFold

Q8VEK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031680
AA Change: E56K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031680
Gene: ENSMUSG00000029670
AA Change: E56K

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 damaging
Transcript: ENSMUST00000115389
AA Change: E56K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111047
Gene: ENSMUSG00000029670
AA Change: E56K

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

probably damaging
Transcript: ENSMUST00000149728
AA Change: E41K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145391
Gene: ENSMUSG00000029670
AA Change: E41K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151473
AA Change: E32K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120651
Gene: ENSMUSG00000029670
AA Change: E32K

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
AA Change: E56K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138244
Gene: ENSMUSG00000029670
AA Change: E56K

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

Meta Mutation Damage Score

0.1542

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,472,268 (GRCm39)	V144A	probably damaging	Het
Abca5	A	T	11: 110,217,530 (GRCm39)	Y109N	possibly damaging	Het
Abcb5	T	C	12: 118,892,460 (GRCm39)	Q433R	probably benign	Het
Adamts7	G	A	9: 90,068,610 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,624,731 (GRCm39)	D3746G	possibly damaging	Het
Arhgap29	C	T	3: 121,782,599 (GRCm39)	S159L	probably benign	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Atp1a3	G	A	7: 24,700,129 (GRCm39)	P77L	probably damaging	Het
B4galt1	T	C	4: 40,812,754 (GRCm39)	D257G	probably damaging	Het
Bin1	T	A	18: 32,539,224 (GRCm39)	N52K	probably damaging	Het
Catsperg2	A	G	7: 29,409,507 (GRCm39)	M562T	probably benign	Het
Ccdc33	G	A	9: 57,940,192 (GRCm39)	Q713*	probably null	Het
Cd96	A	T	16: 45,929,477 (GRCm39)	L156Q	probably damaging	Het
Clpb	A	G	7: 101,360,662 (GRCm39)	T231A	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnmt3a	A	T	12: 3,922,850 (GRCm39)	Q151L	probably benign	Het
Dock2	C	T	11: 34,181,677 (GRCm39)	V1629M	probably benign	Het
Edem1	G	A	6: 108,831,341 (GRCm39)	D601N	probably benign	Het
Eno2	C	T	6: 124,745,228 (GRCm39)	V20M	probably damaging	Het
Eny2	A	C	15: 44,297,250 (GRCm39)	D52A	probably benign	Het
Esp36	T	C	17: 38,728,132 (GRCm39)	R93G	possibly damaging	Het
Fam227a	A	G	15: 79,518,263 (GRCm39)		probably null	Het
Fat4	C	A	3: 39,037,989 (GRCm39)	H3880Q	possibly damaging	Het
Fbxw24	A	T	9: 109,434,598 (GRCm39)	V334E	possibly damaging	Het
Flrt1	T	C	19: 7,073,329 (GRCm39)	Q406R	probably benign	Het
Frmpd2	A	G	14: 33,274,034 (GRCm39)	N1092S	probably benign	Het
Gm904	C	A	13: 50,799,287 (GRCm39)	T82K	probably benign	Het
Gnas	G	C	2: 174,140,408 (GRCm39)	G252R	unknown	Het
Gpatch2l	A	G	12: 86,307,349 (GRCm39)		probably null	Het
H2ac6	A	T	13: 23,867,593 (GRCm39)	I103N	probably damaging	Het
Ift74	T	C	4: 94,541,187 (GRCm39)	V204A	probably benign	Het
Ikzf4	A	G	10: 128,477,113 (GRCm39)	L119P	probably damaging	Het
Klhl25	T	C	7: 75,516,516 (GRCm39)	I474T	probably benign	Het
Klhl5	T	C	5: 65,318,529 (GRCm39)	V556A	probably damaging	Het
Krt14	A	T	11: 100,095,081 (GRCm39)	M382K	probably benign	Het
Lmcd1	T	C	6: 112,292,745 (GRCm39)	V199A	possibly damaging	Het
Lpcat4	T	A	2: 112,073,052 (GRCm39)	F200I	possibly damaging	Het
Lrp1b	T	C	2: 40,894,725 (GRCm39)	T2282A		Het
Lrrk1	T	C	7: 65,911,903 (GRCm39)	T1886A	probably benign	Het
Meis2	T	C	2: 115,889,484 (GRCm39)		probably null	Het
Mki67	C	T	7: 135,301,905 (GRCm39)	R1043K	possibly damaging	Het
Myct1	G	T	10: 5,554,601 (GRCm39)	R156L	possibly damaging	Het
Nckap5l	G	T	15: 99,324,090 (GRCm39)	H804Q	probably damaging	Het
Ndst3	T	G	3: 123,400,555 (GRCm39)	E450D	probably damaging	Het
Nipbl	A	T	15: 8,321,619 (GRCm39)		probably null	Het
Npy	A	G	6: 49,800,587 (GRCm39)	N4D	probably benign	Het
Or7g35	A	T	9: 19,496,487 (GRCm39)	Y218F	probably damaging	Het
Osgin2	T	C	4: 16,008,748 (GRCm39)	S18G	probably benign	Het
Pcdha9	T	G	18: 37,131,551 (GRCm39)	F207V	probably benign	Het
Pcdhb13	A	T	18: 37,577,697 (GRCm39)	I692F	probably damaging	Het
Pde3b	T	A	7: 114,015,384 (GRCm39)	V200E	probably damaging	Het
Ppp6r3	A	T	19: 3,543,981 (GRCm39)	L345I	probably benign	Het
Psd2	G	A	18: 36,113,472 (GRCm39)	A315T	probably damaging	Het
Rnf111	G	A	9: 70,376,655 (GRCm39)	T328I	probably damaging	Het
Rnf213	T	C	11: 119,349,614 (GRCm39)	L3825P		Het
Rtl1	C	T	12: 109,558,909 (GRCm39)	V977I	probably benign	Het
Scn1a	G	A	2: 66,108,000 (GRCm39)		probably null	Het
Slc25a2	G	T	18: 37,770,748 (GRCm39)	N260K	probably benign	Het
Sprtn	T	C	8: 125,626,983 (GRCm39)	V121A	probably damaging	Het
Ssx2ip	T	G	3: 146,133,771 (GRCm39)	L260W	probably damaging	Het
Syde1	G	A	10: 78,424,615 (GRCm39)	R406C	probably damaging	Het
Tab1	A	G	15: 80,017,372 (GRCm39)	R6G	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tenm4	G	A	7: 96,385,020 (GRCm39)	V526I	possibly damaging	Het
Tfap2b	T	C	1: 19,304,404 (GRCm39)	F405L	probably damaging	Het
Trbv13-1	C	A	6: 41,093,325 (GRCm39)	T87K	probably benign	Het
Trmt44	G	T	5: 35,732,130 (GRCm39)	A87E	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,617,634 (GRCm39)	D16279G	probably damaging	Het
Ttn	G	A	2: 76,711,672 (GRCm39)	R8290C	unknown	Het
Ugt2b37	T	A	5: 87,402,590 (GRCm39)	I14L	probably benign	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r184	C	T	7: 25,966,602 (GRCm39)	P116L	possibly damaging	Het
Zfp426	T	C	9: 20,381,887 (GRCm39)	T367A	probably benign	Het
Zfp647	A	T	15: 76,795,956 (GRCm39)	C235S	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
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
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'- GCGTAGATCCTTGTCTGTACAATTC -3'
(R):5'- CTGGTCTAGAATATACCAAGTGCC -3'

Sequencing Primer
(F):5'- TGAAGGCACCACTGCTTATAG -3'
(R):5'- GTGCCCCCAAGTCCCTCATAAG -3'

Posted On

2019-06-26