Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03350:Rnf4'

419656

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 #

IGL03350

Quality Score

Status

Chromosome

Chromosomal Location

34493594-34510789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34504204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 32 (E32G)

Ref Sequence

ENSEMBL: ENSMUSP00000138594 (fasta)

Gene Model

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

AlphaFold

Q9QZS2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030992
AA Change: E32G

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030992
Gene: ENSMUSG00000029110
AA Change: E32G

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

possibly damaging
Transcript: ENSMUST00000182047
AA Change: E32G

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138411
Gene: ENSMUSG00000029110
AA Change: E32G

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

possibly damaging
Transcript: ENSMUST00000182583
AA Change: E32G

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138594
Gene: ENSMUSG00000029110
AA Change: E32G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182709
AA Change: E32G

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138555
Gene: ENSMUSG00000029110
AA Change: E32G

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: ENSMUST00000183265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183071

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	T	8: 44,022,589 (GRCm39)	Y300*	probably null	Het
Adgre1	T	A	17: 57,708,908 (GRCm39)	V33E	probably benign	Het
AI987944	A	G	7: 41,042,661 (GRCm39)		probably benign	Het
Atp4a	T	C	7: 30,420,292 (GRCm39)	L813P	probably damaging	Het
Blmh	A	G	11: 76,862,774 (GRCm39)	N396D	probably damaging	Het
Brat1	T	C	5: 140,691,750 (GRCm39)	L9P	probably damaging	Het
Ccdc171	T	C	4: 83,599,615 (GRCm39)	I810T	possibly damaging	Het
Clec2m	C	A	6: 129,307,986 (GRCm39)	V28L	probably benign	Het
Cyp2a22	T	C	7: 26,634,279 (GRCm39)	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,674,420 (GRCm39)	T280I	probably benign	Het
Fa2h	C	T	8: 112,075,928 (GRCm39)	V232I	probably benign	Het
Fbxw24	T	C	9: 109,436,081 (GRCm39)	D317G	probably damaging	Het
Flt4	C	A	11: 49,525,620 (GRCm39)	S722*	probably null	Het
Fryl	T	C	5: 73,290,649 (GRCm39)	Q85R	probably damaging	Het
Gm3239	A	G	14: 15,882,083 (GRCm39)	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,554,717 (GRCm39)	S456R	probably damaging	Het
Htr1b	T	C	9: 81,514,175 (GRCm39)	Y144C	probably damaging	Het
Hydin	A	G	8: 111,038,856 (GRCm39)	H198R	possibly damaging	Het
Krt78	A	T	15: 101,854,952 (GRCm39)	M953K	probably benign	Het
Lgr5	G	T	10: 115,307,893 (GRCm39)	T255K	probably damaging	Het
Lrp2	T	A	2: 69,268,797 (GRCm39)	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,345,201 (GRCm39)	D342G	probably damaging	Het
Miip	A	G	4: 147,946,979 (GRCm39)	V258A	probably benign	Het
Muc6	T	C	7: 141,238,324 (GRCm39)	H52R	probably damaging	Het
Nfs1	T	C	2: 155,969,660 (GRCm39)	E329G	probably benign	Het
Npsr1	T	C	9: 24,009,605 (GRCm39)	V37A	probably benign	Het
Or1ak2	T	C	2: 36,827,595 (GRCm39)	Y155H	probably damaging	Het
Or1e17	A	T	11: 73,831,664 (GRCm39)	L197F	probably damaging	Het
Or5aq1b	A	C	2: 86,901,904 (GRCm39)	D191E	probably damaging	Het
Pex16	T	A	2: 92,207,842 (GRCm39)	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,285,517 (GRCm39)	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,588,460 (GRCm39)	D103V	probably damaging	Het
Pnpla1	A	G	17: 29,095,966 (GRCm39)	D129G	probably damaging	Het
Rad23a	T	C	8: 85,564,108 (GRCm39)	E265G	possibly damaging	Het
Rbm11	C	T	16: 75,397,696 (GRCm39)	P209S	probably benign	Het
Ribc2	T	A	15: 85,019,703 (GRCm39)	W162R	probably damaging	Het
Rpe65	A	T	3: 159,320,154 (GRCm39)	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,291,558 (GRCm39)	Y240F	probably benign	Het
Sorbs2	C	T	8: 46,258,844 (GRCm39)	P1047L	probably damaging	Het
Ttn	T	C	2: 76,580,166 (GRCm39)	I23576V	probably damaging	Het
Usp24	T	G	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Wee2	T	C	6: 40,426,665 (GRCm39)	S145P	probably damaging	Het
Zcchc7	A	G	4: 44,931,188 (GRCm39)	T126A	probably benign	Het
Zpld1	A	G	16: 55,061,692 (GRCm39)		probably benign	Het
Zup1	G	A	10: 33,804,107 (GRCm39)	R456C	probably benign	Het

Other mutations in Rnf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01926:Rnf4	APN	5	34,504,123 (GRCm39)	missense	probably benign	0.01
IGL02740:Rnf4	APN	5	34,506,898 (GRCm39)	missense	possibly damaging	0.93
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

2016-08-02