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

34336289-34355629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34346860 bp (GRCm38)

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: ENSMUST00000182772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183265

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
4922502D21Rik	C	A	6: 129,331,023	V28L	probably benign	Het
Adam26a	A	T	8: 43,569,552	Y300*	probably null	Het
Adgre1	T	A	17: 57,401,908	V33E	probably benign	Het
AI987944	A	G	7: 41,393,237		probably benign	Het
Atp4a	T	C	7: 30,720,867	L813P	probably damaging	Het
Blmh	A	G	11: 76,971,948	N396D	probably damaging	Het
Brat1	T	C	5: 140,705,995	L9P	probably damaging	Het
Ccdc171	T	C	4: 83,681,378	I810T	possibly damaging	Het
Cyp2a22	T	C	7: 26,934,854	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,520,944	T280I	probably benign	Het
Fa2h	C	T	8: 111,349,296	V232I	probably benign	Het
Fbxw24	T	C	9: 109,607,013	D317G	probably damaging	Het
Flt4	C	A	11: 49,634,793	S722*	probably null	Het
Fryl	T	C	5: 73,133,306	Q85R	probably damaging	Het
Gm3239	A	G	14: 4,667,115	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,757,829	S456R	probably damaging	Het
Htr1b	T	C	9: 81,632,122	Y144C	probably damaging	Het
Hydin	A	G	8: 110,312,224	H198R	possibly damaging	Het
Krt78	A	T	15: 101,946,517	M953K	probably benign	Het
Lgr5	G	T	10: 115,471,988	T255K	probably damaging	Het
Lrp2	T	A	2: 69,438,453	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,212,148	D342G	probably damaging	Het
Miip	A	G	4: 147,862,522	V258A	probably benign	Het
Muc6	T	C	7: 141,652,059	H52R	probably damaging	Het
Nfs1	T	C	2: 156,127,740	E329G	probably benign	Het
Npsr1	T	C	9: 24,098,309	V37A	probably benign	Het
Olfr1107	A	C	2: 87,071,560	D191E	probably damaging	Het
Olfr23	A	T	11: 73,940,838	L197F	probably damaging	Het
Olfr356	T	C	2: 36,937,583	Y155H	probably damaging	Het
Pex16	T	A	2: 92,377,497	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,455,173	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,549,301	D103V	probably damaging	Het
Pnpla1	A	G	17: 28,876,992	D129G	probably damaging	Het
Rad23a	T	C	8: 84,837,479	E265G	possibly damaging	Het
Rbm11	C	T	16: 75,600,808	P209S	probably benign	Het
Ribc2	T	A	15: 85,135,502	W162R	probably damaging	Het
Rpe65	A	T	3: 159,614,517	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,237,409	Y240F	probably benign	Het
Sorbs2	C	T	8: 45,805,807	P1047L	probably damaging	Het
Ttn	T	C	2: 76,749,822	I23576V	probably damaging	Het
Usp24	T	G	4: 106,371,079	Y780*	probably null	Het
Wee2	T	C	6: 40,449,731	S145P	probably damaging	Het
Zcchc7	A	G	4: 44,931,188	T126A	probably benign	Het
Zpld1	A	G	16: 55,241,329		probably benign	Het
Zufsp	G	A	10: 33,928,111	R456C	probably benign	Het

Other mutations in Rnf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01926:Rnf4	APN	5	34346779	missense	probably benign	0.01
IGL02740:Rnf4	APN	5	34349554	missense	possibly damaging	0.93
R1318:Rnf4	UTSW	5	34351246	missense	probably damaging	0.99
R1669:Rnf4	UTSW	5	34351280	missense	probably damaging	1.00
R4456:Rnf4	UTSW	5	34351361	missense	probably benign	0.27
R4457:Rnf4	UTSW	5	34351361	missense	probably benign	0.27
R4730:Rnf4	UTSW	5	34350803	missense	possibly damaging	0.78
R4842:Rnf4	UTSW	5	34348709	missense	probably damaging	1.00
R5035:Rnf4	UTSW	5	34351339	missense	probably damaging	0.99
R6083:Rnf4	UTSW	5	34351221	splice site	probably null
R8376:Rnf4	UTSW	5	34351357	missense	probably damaging	0.98
R8493:Rnf4	UTSW	5	34348691	missense	probably damaging	1.00
R9425:Rnf4	UTSW	5	34351297	missense	probably benign	0.13

Posted On

2016-08-02