Mutagenetix > Incidental Mutation

Incidental Mutation 'R7363:Ring1'

571503

Institutional Source

Beutler Lab

Gene Symbol

Ring1

Ensembl Gene

ENSMUSG00000024325

Gene Name

ring finger protein 1

Synonyms

Ring1A

MMRRC Submission

045448-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.723) question?

Stock #

R7363 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34239766-34243654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34243336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 2 (T2K)

Ref Sequence

ENSEMBL: ENSMUSP00000025183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025183] [ENSMUST00000025186] [ENSMUST00000045467] [ENSMUST00000114303] [ENSMUST00000169397]

AlphaFold

O35730

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025183
AA Change: T2K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025183
Gene: ENSMUSG00000024325
AA Change: T2K

Domain	Start	End	E-Value	Type
RING	48	87	7.92e-8	SMART
low complexity region	171	229	N/A	INTRINSIC
low complexity region	236	261	N/A	INTRINSIC
Pfam:RAWUL	272	400	4.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025186

SMART Domains

Protein: ENSMUSP00000025186
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	473	2.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045467

SMART Domains

Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422

Domain	Start	End	E-Value	Type
Pfam:KR	10	201	1.5e-16	PFAM
Pfam:adh_short	10	213	4.5e-52	PFAM
Pfam:adh_short_C2	16	258	8.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114303

SMART Domains

Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422

Domain	Start	End	E-Value	Type
Pfam:KR	10	202	5.5e-16	PFAM
Pfam:adh_short	22	193	2.7e-30	PFAM
Pfam:adh_short_C2	23	234	1.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169397

SMART Domains

Protein: ENSMUSP00000130102
Gene: ENSMUSG00000024327

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	77	N/A	INTRINSIC
low complexity region	80	123	N/A	INTRINSIC
Pfam:Zip	140	473	1.9e-81	PFAM

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both homozygous and heterozygous mutant mice show axial skeleton defects including anterior transformations of vertebrae and rib abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,782 (GRCm39)	N190I	probably damaging	Het
Ablim1	G	T	19: 57,204,173 (GRCm39)	L73I	probably benign	Het
Adamts4	A	T	1: 171,086,608 (GRCm39)	Q800L	probably benign	Het
Atm	A	T	9: 53,376,598 (GRCm39)	I2014N	probably damaging	Het
Atp2a1	A	G	7: 126,062,061 (GRCm39)	C12R	possibly damaging	Het
B3galnt1	A	T	3: 69,483,157 (GRCm39)	Y35N	probably damaging	Het
Bnc2	A	T	4: 84,210,308 (GRCm39)	M687K	probably benign	Het
Cacna2d4	A	G	6: 119,320,939 (GRCm39)	Y917C	probably damaging	Het
Cemip2	T	C	19: 21,833,575 (GRCm39)	F1338L	probably benign	Het
Ces2e	A	G	8: 105,659,632 (GRCm39)		probably null	Het
Cldn23	A	G	8: 36,292,659 (GRCm39)		probably null	Het
Cntn5	G	T	9: 10,172,021 (GRCm39)	S54R	probably benign	Het
Cyria	T	A	12: 12,390,665 (GRCm39)		probably null	Het
Dido1	G	T	2: 180,304,310 (GRCm39)	S1198*	probably null	Het
Dnah12	A	G	14: 26,445,766 (GRCm39)	M776V	probably benign	Het
Dnah14	A	G	1: 181,518,089 (GRCm39)		probably null	Het
Dnttip1	GGGCCGGC	GGGC	2: 164,599,605 (GRCm39)		probably null	Het
Dusp28	A	T	1: 92,834,861 (GRCm39)	T29S	probably benign	Het
Erich1	A	T	8: 14,083,688 (GRCm39)	S127R	probably benign	Het
Fam151a	T	A	4: 106,602,681 (GRCm39)	L200H	probably damaging	Het
Fbxw8	A	T	5: 118,263,057 (GRCm39)	H207Q	probably damaging	Het
Fgf22	A	G	10: 79,592,676 (GRCm39)	E116G	probably benign	Het
Gapvd1	C	A	2: 34,602,207 (GRCm39)	V647F	probably benign	Het
Garin4	A	T	1: 190,895,910 (GRCm39)	S244R	probably damaging	Het
Gja4	T	A	4: 127,206,487 (GRCm39)	Y92F	probably damaging	Het
Gtf3c2	G	A	5: 31,327,600 (GRCm39)	R288W	probably damaging	Het
Hira	G	T	16: 18,716,532 (GRCm39)	R99L	possibly damaging	Het
Ighv16-1	C	T	12: 114,032,721 (GRCm39)	G27D	probably damaging	Het
Igkv1-133	C	T	6: 67,702,395 (GRCm39)	P38S	probably benign	Het
Igkv4-59	T	C	6: 69,415,396 (GRCm39)	Y53C	probably damaging	Het
Il23a	T	C	10: 128,133,020 (GRCm39)	E113G	probably damaging	Het
Kcnip1	A	G	11: 33,584,589 (GRCm39)	V188A	probably benign	Het
L3mbtl3	T	C	10: 26,216,850 (GRCm39)	K155E	unknown	Het
Lancl2	T	G	6: 57,699,664 (GRCm39)	C169G	probably benign	Het
Lrrc26	A	G	2: 25,180,581 (GRCm39)	D194G	probably benign	Het
Lrrfip1	C	T	1: 91,050,842 (GRCm39)	A545V	probably benign	Het
Lrtm1	T	C	14: 28,743,850 (GRCm39)	F106S	probably damaging	Het
Lypd2	A	T	15: 74,604,848 (GRCm39)	M49K	probably damaging	Het
Mbd1	A	C	18: 74,406,357 (GRCm39)	D63A	probably damaging	Het
Mdn1	T	C	4: 32,691,729 (GRCm39)	F990L	probably damaging	Het
Mtfr1l	T	C	4: 134,256,577 (GRCm39)	E196G	probably benign	Het
Myh10	A	G	11: 68,705,874 (GRCm39)	T2007A	probably benign	Het
Nckap1	G	A	2: 80,370,512 (GRCm39)	R393C	probably damaging	Het
Nup205	C	T	6: 35,209,508 (GRCm39)	T1605M	probably benign	Het
Or1e33	T	C	11: 73,738,741 (GRCm39)	D70G	probably damaging	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Pgap2	T	A	7: 101,875,467 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,619,387 (GRCm39)	S741G	probably benign	Het
Plcd4	A	T	1: 74,590,231 (GRCm39)	S155C	probably null	Het
Poc5	A	T	13: 96,540,925 (GRCm39)	T365S	possibly damaging	Het
Ppp2r5c	G	A	12: 110,489,041 (GRCm39)	A71T	probably benign	Het
Prdm6	T	A	18: 53,598,199 (GRCm39)	I187N	possibly damaging	Het
Pxk	A	G	14: 8,152,118 (GRCm38)	Q478R	probably benign	Het
Rgl1	T	C	1: 152,394,914 (GRCm39)	Y718C	probably damaging	Het
Sdk1	A	G	5: 142,173,897 (GRCm39)	S2022G	probably benign	Het
Sec61a1	C	A	6: 88,492,533 (GRCm39)	V32F	probably benign	Het
Sv2b	G	A	7: 74,797,402 (GRCm39)	P331S	probably damaging	Het
Syne1	T	C	10: 5,090,970 (GRCm39)	S795G	possibly damaging	Het
Tmod2	T	C	9: 75,484,023 (GRCm39)	E309G	probably damaging	Het
Tpp2	T	G	1: 44,024,582 (GRCm39)	S987A	probably benign	Het
Trim75	G	C	8: 65,435,539 (GRCm39)	H304D	probably damaging	Het
Trp53bp2	G	T	1: 182,272,231 (GRCm39)	D447Y	probably damaging	Het
Ube3a	A	G	7: 58,936,751 (GRCm39)	K697E	probably benign	Het
Vmn2r13	T	A	5: 109,339,909 (GRCm39)	H22L	probably benign	Het
Vmn2r4	G	A	3: 64,314,432 (GRCm39)	S183F	probably damaging	Het
Vwa8	T	C	14: 79,256,147 (GRCm39)	Y721H	probably benign	Het
Wbp1l	C	T	19: 46,642,569 (GRCm39)	P190L	possibly damaging	Het
Zcchc4	A	T	5: 52,942,510 (GRCm39)	Q105L	possibly damaging	Het
Zfp236	T	C	18: 82,639,456 (GRCm39)	R1264G	probably damaging	Het
Zfpm2	T	A	15: 40,616,413 (GRCm39)	N54K	probably damaging	Het
Zkscan3	C	T	13: 21,571,992 (GRCm39)	G547S	probably damaging	Het

Other mutations in Ring1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Ring1	APN	17	34,241,983 (GRCm39)	missense	possibly damaging	0.89
IGL01734:Ring1	APN	17	34,242,294 (GRCm39)	missense	probably damaging	1.00
IGL02420:Ring1	APN	17	34,242,122 (GRCm39)	missense	possibly damaging	0.67
R4711:Ring1	UTSW	17	34,241,333 (GRCm39)	missense	possibly damaging	0.72
R4762:Ring1	UTSW	17	34,240,971 (GRCm39)	unclassified	probably benign
R4770:Ring1	UTSW	17	34,242,361 (GRCm39)	missense	probably damaging	1.00
R4779:Ring1	UTSW	17	34,241,263 (GRCm39)	unclassified	probably benign
R4935:Ring1	UTSW	17	34,242,016 (GRCm39)	missense	probably benign	0.04
R5561:Ring1	UTSW	17	34,240,432 (GRCm39)	missense	possibly damaging	0.85
R5772:Ring1	UTSW	17	34,241,282 (GRCm39)	missense	possibly damaging	0.96
R6235:Ring1	UTSW	17	34,242,280 (GRCm39)	missense	probably damaging	0.98
R7060:Ring1	UTSW	17	34,242,364 (GRCm39)	missense	probably damaging	1.00
R7115:Ring1	UTSW	17	34,242,420 (GRCm39)	missense	probably damaging	0.97
R7380:Ring1	UTSW	17	34,240,694 (GRCm39)	missense	probably damaging	0.98
R7556:Ring1	UTSW	17	34,240,688 (GRCm39)	missense	possibly damaging	0.52
R7703:Ring1	UTSW	17	34,242,109 (GRCm39)	missense	probably damaging	1.00
R9289:Ring1	UTSW	17	34,241,547 (GRCm39)	missense	possibly damaging	0.73
R9716:Ring1	UTSW	17	34,240,420 (GRCm39)	missense	possibly damaging	0.85
Z1177:Ring1	UTSW	17	34,240,752 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCACTTTGAGGGGTTAAATC -3'
(R):5'- CCGGCTTGAGAGAAGTTGGG -3'

Sequencing Primer
(F):5'- CCACTTTGAGGGGTTAAATCGGATC -3'
(R):5'- AAGTGACGTCGAGCCTCG -3'

Posted On

2019-09-13