Mutagenetix > Incidental Mutation

Incidental Mutation 'R4779:Ring1'

368194

Institutional Source

Beutler Lab

Gene Symbol

Ring1

Ensembl Gene

ENSMUSG00000024325

Gene Name

ring finger protein 1

Synonyms

Ring1A

MMRRC Submission

045240-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R4779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34239766-34243654 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 34241263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133546 (fasta)

Gene Model

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

AlphaFold

O35730

Predicted Effect

probably benign
Transcript: ENSMUST00000025183

SMART Domains

Protein: ENSMUSP00000025183
Gene: ENSMUSG00000024325

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: 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

noncoding transcript
Transcript: ENSMUST00000083621

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

noncoding transcript
Transcript: ENSMUST00000168978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173894

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (95/97)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,667,613 (GRCm39)	S335T	unknown	Het
4933421I07Rik	T	A	7: 42,097,455 (GRCm39)	H13L	possibly damaging	Het
6030468B19Rik	A	G	11: 117,696,834 (GRCm39)	T185A	probably benign	Het
Abcc1	T	A	16: 14,228,635 (GRCm39)	V294E	probably benign	Het
Abhd16b	A	G	2: 181,135,253 (GRCm39)	T52A	possibly damaging	Het
Actl7a	A	T	4: 56,743,632 (GRCm39)	N53I	probably benign	Het
Ankmy1	T	C	1: 92,814,445 (GRCm39)	E354G	probably benign	Het
Arap1	T	C	7: 101,053,574 (GRCm39)	F1301S	probably damaging	Het
Arfgef1	A	T	1: 10,223,958 (GRCm39)	W1447R	probably damaging	Het
Atoh7	ATGGCGCT	AT	10: 62,936,187 (GRCm39)		probably benign	Het
Ccl24	T	A	5: 135,601,811 (GRCm39)	T6S	possibly damaging	Het
Cep152	G	T	2: 125,410,812 (GRCm39)	P1292Q	possibly damaging	Het
Cfap46	T	C	7: 139,239,731 (GRCm39)		probably benign	Het
Chd6	A	T	2: 160,791,477 (GRCm39)	S2627T	probably damaging	Het
Chd8	A	T	14: 52,468,963 (GRCm39)	S552T	probably damaging	Het
Ciita	C	A	16: 10,329,230 (GRCm39)	L502M	probably damaging	Het
Clic1	T	C	17: 35,271,463 (GRCm39)	F31S	probably damaging	Het
Cntnap1	T	A	11: 101,068,898 (GRCm39)	I147N	possibly damaging	Het
Cplane1	T	C	15: 8,248,322 (GRCm39)	S1624P	probably benign	Het
Crispld1	T	A	1: 17,819,831 (GRCm39)	D276E	probably benign	Het
Cspg4	A	T	9: 56,793,092 (GRCm39)	N276Y	probably damaging	Het
Cspg4b	A	T	13: 113,504,870 (GRCm39)	N2000Y	possibly damaging	Het
Cwf19l2	A	G	9: 3,410,035 (GRCm39)	M55V	possibly damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Dop1b	T	C	16: 93,553,969 (GRCm39)	I301T	probably damaging	Het
Epg5	T	C	18: 78,034,580 (GRCm39)	V1443A	probably benign	Het
Ephb4	T	C	5: 137,363,964 (GRCm39)	V612A	probably benign	Het
Fcgbp	T	A	7: 27,794,362 (GRCm39)	C1189S	probably damaging	Het
Fgfr2	T	G	7: 129,786,923 (GRCm39)		probably benign	Het
Fmn2	A	G	1: 174,437,461 (GRCm39)	E1144G	probably damaging	Het
Fmo3	T	C	1: 162,796,407 (GRCm39)	Y55C	probably damaging	Het
Frmpd1	A	G	4: 45,229,865 (GRCm39)	T11A	probably damaging	Het
Ghdc	G	T	11: 100,660,929 (GRCm39)	Q79K	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm5591	T	C	7: 38,221,680 (GRCm39)	T130A	probably damaging	Het
Heg1	T	G	16: 33,540,142 (GRCm39)	D367E	probably benign	Het
Igkv13-84	C	T	6: 68,916,894 (GRCm39)	P64S	probably damaging	Het
Il10rb	T	A	16: 91,211,545 (GRCm39)	S128T	possibly damaging	Het
Il15ra	T	A	2: 11,723,117 (GRCm39)	I47N	probably damaging	Het
Il33	C	A	19: 29,936,311 (GRCm39)	S207*	probably null	Het
Itgb7	A	G	15: 102,132,848 (GRCm39)	Y155H	possibly damaging	Het
Kdm5a	A	G	6: 120,346,060 (GRCm39)		probably benign	Het
Kif11	G	A	19: 37,406,397 (GRCm39)	V987I	probably benign	Het
Krtap19-2	G	A	16: 88,670,762 (GRCm39)		probably benign	Het
Krtap24-1	T	A	16: 88,408,417 (GRCm39)	R236S	probably damaging	Het
L3mbtl2	A	G	15: 81,566,813 (GRCm39)	I406V	probably benign	Het
Lrp2	A	T	2: 69,290,059 (GRCm39)	H3593Q	possibly damaging	Het
Mavs	G	T	2: 131,082,285 (GRCm39)	W56C	probably damaging	Het
Mn1	C	T	5: 111,567,526 (GRCm39)	P499S	probably damaging	Het
Ntn5	T	A	7: 45,340,895 (GRCm39)	C178S	probably damaging	Het
Nufip2	A	G	11: 77,577,154 (GRCm39)	H34R	unknown	Het
Or5p51	T	A	7: 107,444,755 (GRCm39)	M62L	possibly damaging	Het
Or6f2	T	A	7: 139,756,363 (GRCm39)	L110Q	probably damaging	Het
Osbpl10	C	T	9: 114,938,598 (GRCm39)	S86L	probably damaging	Het
Pitpna	T	A	11: 75,511,153 (GRCm39)	M242K	possibly damaging	Het
Pnpla6	T	C	8: 3,572,838 (GRCm39)	V345A	probably benign	Het
Polk	A	G	13: 96,632,999 (GRCm39)		probably null	Het
Polr3k	A	G	2: 181,506,340 (GRCm39)	Y30C	probably damaging	Het
Pramel6	A	G	2: 87,339,941 (GRCm39)	H235R	probably benign	Het
Ptpra	G	A	2: 130,379,537 (GRCm39)	V364I	probably damaging	Het
Recql	A	G	6: 142,309,426 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Samsn1	C	A	16: 75,744,177 (GRCm39)		noncoding transcript	Het
Scara5	A	G	14: 65,968,198 (GRCm39)	H157R	probably benign	Het
Sdc3	C	T	4: 130,546,376 (GRCm39)	P245L	probably damaging	Het
Slc18b1	T	A	10: 23,696,767 (GRCm39)	M318K	possibly damaging	Het
Slc26a10	C	T	10: 127,009,224 (GRCm39)	A638T	possibly damaging	Het
Slc35f2	T	A	9: 53,717,013 (GRCm39)	W259R	possibly damaging	Het
Spata13	G	A	14: 60,991,356 (GRCm39)	W366*	probably null	Het
Sptlc3	A	G	2: 139,431,509 (GRCm39)	T344A	probably benign	Het
Tap1	T	C	17: 34,412,865 (GRCm39)	V560A	probably damaging	Het
Tbc1d1	T	C	5: 64,435,389 (GRCm39)		probably null	Het
Tlr11	A	G	14: 50,598,707 (GRCm39)	Y231C	possibly damaging	Het
Tmem245	A	T	4: 56,936,468 (GRCm39)	S230T	possibly damaging	Het
Tnnt3	C	T	7: 142,068,020 (GRCm39)		probably benign	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Tshz2	A	G	2: 169,804,601 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,397 (GRCm39)	S129P	probably damaging	Het
Ttc6	A	T	12: 57,776,237 (GRCm39)	N1727I	probably damaging	Het
Ttc7b	A	G	12: 100,369,621 (GRCm39)	S383P	probably damaging	Het
Tulp3	T	A	6: 128,300,083 (GRCm39)	I448F	probably damaging	Het
Ube3b	T	C	5: 114,542,778 (GRCm39)		probably null	Het
Vav1	G	A	17: 57,603,552 (GRCm39)	V84I	probably damaging	Het
Vav3	A	T	3: 109,416,110 (GRCm39)	K243I	possibly damaging	Het
Vmn1r25	T	A	6: 57,956,011 (GRCm39)	I93F	probably damaging	Het
Vmn2r73	C	T	7: 85,520,923 (GRCm39)	W348*	probably null	Het
Zdbf2	A	G	1: 63,342,397 (GRCm39)	R259G	possibly 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
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
R7363:Ring1	UTSW	17	34,243,336 (GRCm39)	missense	possibly damaging	0.68
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'- CTCCAAAAGTTCTGGCTGGG -3'
(R):5'- GTTCTGAAGACTCTGGTGACC -3'

Sequencing Primer
(F):5'- CTCTGGGAATGACAGGTGTACACTAC -3'
(R):5'- ACTCTGGTGACCGGGGC -3'

Posted On

2015-12-29