Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01926:Rnf4'

180289

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf4

Ensembl Gene

ENSMUSG00000029110

Gene Name

ring finger protein 4

Synonyms

Gtrgeo8

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01926

Quality Score

Status

Chromosome

Chromosomal Location

34493594-34510789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34504123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 5 (N5S)

Ref Sequence

ENSEMBL: ENSMUSP00000138594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030992] [ENSMUST00000182047] [ENSMUST00000182583] [ENSMUST00000182709]

AlphaFold

Q9QZS2

Predicted Effect

probably benign
Transcript: ENSMUST00000030992
AA Change: N5S

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

SMART Domains

Protein: ENSMUSP00000030992
Gene: ENSMUSG00000029110
AA Change: N5S

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
RING	136	180	2.65e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181999

Predicted Effect

probably benign
Transcript: ENSMUST00000182047
AA Change: N5S

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

SMART Domains

Protein: ENSMUSP00000138411
Gene: ENSMUSG00000029110
AA Change: N5S

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
RING	136	180	2.65e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182582

Predicted Effect

probably benign
Transcript: ENSMUST00000182583
AA Change: N5S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138594
Gene: ENSMUSG00000029110
AA Change: N5S

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182709
AA Change: N5S

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

SMART Domains

Protein: ENSMUSP00000138555
Gene: ENSMUSG00000029110
AA Change: N5S

Domain	Start	End	E-Value	Type
low complexity region	77	88	N/A	INTRINSIC
RING	136	180	2.65e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182810

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a small nuclear RING finger protein that mediates ubiquitylation of polysumoylated proteins. Deficiency of the encoded protein in mice leads to embryonic lethality and global DNA hypermethylation. A similar protein in humans is required for arsenic-induced degradation of promyelocytic leukemia protein in acute promyelocytic leukemia. Alternative splicing of this gene results in multiple transcript variants. A pseudogene for this gene has been identified on chromosome 10. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null mutation display lethality throughout fetal growth and development with ventricular septal defects and cardiac insufficiency. MEFs from homozygous mice display global DNA hypermethylation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,026,155 (GRCm39)		probably benign	Het
Ano1	C	T	7: 144,164,612 (GRCm39)	V671M	possibly damaging	Het
Atf7ip2	G	T	16: 10,059,749 (GRCm39)	D430Y	probably damaging	Het
Atp7b	A	T	8: 22,501,797 (GRCm39)	D740E	probably damaging	Het
Bbs1	A	C	19: 4,952,891 (GRCm39)	S191A	probably benign	Het
Capn5	C	T	7: 97,777,679 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,791,099 (GRCm39)	I244T	probably benign	Het
Dsg1a	G	T	18: 20,466,641 (GRCm39)	D504Y	possibly damaging	Het
Eif3a	T	C	19: 60,758,399 (GRCm39)	D793G	unknown	Het
Exoc4	C	A	6: 33,839,077 (GRCm39)	D704E	probably damaging	Het
Fmo5	A	C	3: 97,544,797 (GRCm39)	T109P	probably damaging	Het
Ggt5	A	G	10: 75,439,935 (GRCm39)	I179V	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Irs1	G	T	1: 82,267,680 (GRCm39)	R179S	probably damaging	Het
Jmy	A	T	13: 93,596,294 (GRCm39)	V445E	probably damaging	Het
Jup	C	A	11: 100,274,412 (GRCm39)	V93F	probably benign	Het
Krt20	T	C	11: 99,328,652 (GRCm39)	Y91C	probably damaging	Het
Mug2	T	A	6: 122,013,063 (GRCm39)		probably benign	Het
Mybpc3	C	T	2: 90,965,752 (GRCm39)	T1188I	possibly damaging	Het
Myt1	T	C	2: 181,463,790 (GRCm39)	L1032P	probably benign	Het
Naip6	A	T	13: 100,436,704 (GRCm39)	N606K	probably damaging	Het
Nfrkb	A	T	9: 31,325,475 (GRCm39)	M973L	probably benign	Het
Or5aq6	C	T	2: 86,923,318 (GRCm39)	C141Y	probably damaging	Het
Or5b120	A	T	19: 13,480,105 (GRCm39)	T133S	possibly damaging	Het
Parp8	T	C	13: 116,998,838 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,471,642 (GRCm39)	M131K	probably benign	Het
Pomt1	T	A	2: 32,133,484 (GRCm39)	S207T	probably benign	Het
Prlr	T	A	15: 10,314,306 (GRCm39)	M1K	probably null	Het
Prr15	A	G	6: 54,306,490 (GRCm39)	K83E	probably damaging	Het
Sel1l3	T	A	5: 53,357,485 (GRCm39)	H169L	probably benign	Het
Slc24a5	A	G	2: 124,910,823 (GRCm39)	I85V	probably benign	Het
Tmc2	T	C	2: 130,102,160 (GRCm39)	I775T	possibly damaging	Het
Trnau1ap	A	T	4: 132,046,873 (GRCm39)	F141L	probably benign	Het
Zscan4d	A	G	7: 10,898,921 (GRCm39)	C119R	probably damaging	Het
Zswim9	A	T	7: 12,994,248 (GRCm39)	V636D	possibly damaging	Het

Other mutations in Rnf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02740:Rnf4	APN	5	34,506,898 (GRCm39)	missense	possibly damaging	0.93
IGL03350:Rnf4	APN	5	34,504,204 (GRCm39)	missense	possibly damaging	0.88
R1318:Rnf4	UTSW	5	34,508,590 (GRCm39)	missense	probably damaging	0.99
R1669:Rnf4	UTSW	5	34,508,624 (GRCm39)	missense	probably damaging	1.00
R4456:Rnf4	UTSW	5	34,508,705 (GRCm39)	missense	probably benign	0.27
R4457:Rnf4	UTSW	5	34,508,705 (GRCm39)	missense	probably benign	0.27
R4730:Rnf4	UTSW	5	34,508,147 (GRCm39)	missense	possibly damaging	0.78
R4842:Rnf4	UTSW	5	34,506,053 (GRCm39)	missense	probably damaging	1.00
R5035:Rnf4	UTSW	5	34,508,683 (GRCm39)	missense	probably damaging	0.99
R6083:Rnf4	UTSW	5	34,508,565 (GRCm39)	splice site	probably null
R8376:Rnf4	UTSW	5	34,508,701 (GRCm39)	missense	probably damaging	0.98
R8493:Rnf4	UTSW	5	34,506,035 (GRCm39)	missense	probably damaging	1.00
R9425:Rnf4	UTSW	5	34,508,641 (GRCm39)	missense	probably benign	0.13

Posted On

2014-05-07