Mutagenetix > Incidental Mutation

Incidental Mutation 'R5724:Rnf34'

452371

Institutional Source

Beutler Lab

Gene Symbol

Rnf34

Ensembl Gene

ENSMUSG00000029474

Gene Name

ring finger protein 34

Synonyms

phafin 1

MMRRC Submission

043342-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R5724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122988270-123007008 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 123004952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 241 (Q241*)

Ref Sequence

ENSEMBL: ENSMUSP00000031434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031434] [ENSMUST00000031435] [ENSMUST00000046073] [ENSMUST00000086200] [ENSMUST00000118027] [ENSMUST00000121739] [ENSMUST00000127403] [ENSMUST00000198602]

AlphaFold

Q99KR6

Predicted Effect

probably null
Transcript: ENSMUST00000031434
AA Change: Q241*

SMART Domains

Protein: ENSMUSP00000031434
Gene: ENSMUSG00000029474
AA Change: Q241*

Domain	Start	End	E-Value	Type
PDB:1Y02\|A	47	148	5e-21	PDB
Blast:RING	62	102	5e-17	BLAST
low complexity region	151	182	N/A	INTRINSIC
low complexity region	222	246	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC
RING	329	363	7.98e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000031435

SMART Domains

Protein: ENSMUSP00000031435
Gene: ENSMUSG00000029475

Domain	Start	End	E-Value	Type
Pfam:zf-CXXC	45	91	1.6e-17	PFAM
PHD	101	163	8.58e-4	SMART
low complexity region	259	290	N/A	INTRINSIC
low complexity region	370	380	N/A	INTRINSIC
low complexity region	457	473	N/A	INTRINSIC
low complexity region	485	499	N/A	INTRINSIC
FBOX	505	545	1.69e-2	SMART
LRR	588	610	1.31e2	SMART
LRR	612	637	2.9e2	SMART
LRR	652	676	2.04e2	SMART
LRR	677	702	1.1e1	SMART
LRR	732	757	3.91e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000046073

SMART Domains

Protein: ENSMUSP00000038229
Gene: ENSMUSG00000029475

Domain	Start	End	E-Value	Type
Blast:JmjC	23	101	4e-41	BLAST
JmjC	147	315	3.61e-41	SMART
low complexity region	380	401	N/A	INTRINSIC
low complexity region	406	424	N/A	INTRINSIC
PDB:2YU2\|A	472	546	1e-17	PDB
Pfam:zf-CXXC	578	624	3e-17	PFAM
PHD	634	696	8.58e-4	SMART
low complexity region	792	823	N/A	INTRINSIC
low complexity region	903	913	N/A	INTRINSIC
low complexity region	990	1006	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC
FBOX	1038	1078	1.69e-2	SMART
LRR	1121	1143	1.31e2	SMART
LRR	1145	1170	2.9e2	SMART
LRR	1185	1209	2.04e2	SMART
LRR	1210	1235	1.1e1	SMART
LRR	1265	1290	3.91e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086200

SMART Domains

Protein: ENSMUSP00000083376
Gene: ENSMUSG00000029475

Domain	Start	End	E-Value	Type
Blast:JmjC	17	95	4e-41	BLAST
JmjC	141	309	3.61e-41	SMART
low complexity region	374	395	N/A	INTRINSIC
low complexity region	400	418	N/A	INTRINSIC
PDB:2YU2\|A	466	540	1e-17	PDB
Pfam:zf-CXXC	572	618	2.1e-17	PFAM
PHD	628	690	8.58e-4	SMART
low complexity region	786	817	N/A	INTRINSIC
low complexity region	897	907	N/A	INTRINSIC
low complexity region	984	1000	N/A	INTRINSIC
low complexity region	1012	1026	N/A	INTRINSIC
FBOX	1032	1072	1.69e-2	SMART
LRR	1115	1137	1.31e2	SMART
LRR	1139	1164	2.9e2	SMART
LRR	1179	1203	2.04e2	SMART
LRR	1204	1229	1.1e1	SMART
LRR	1259	1284	3.91e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118027

SMART Domains

Protein: ENSMUSP00000114052
Gene: ENSMUSG00000029475

Domain	Start	End	E-Value	Type
Blast:JmjC	23	101	4e-41	BLAST
JmjC	147	315	3.61e-41	SMART
low complexity region	380	401	N/A	INTRINSIC
low complexity region	406	424	N/A	INTRINSIC
PDB:2YU2\|A	472	546	9e-18	PDB
Pfam:zf-CXXC	578	624	2.1e-17	PFAM
PHD	634	696	8.58e-4	SMART
low complexity region	865	875	N/A	INTRINSIC
low complexity region	952	968	N/A	INTRINSIC
low complexity region	980	994	N/A	INTRINSIC
FBOX	1000	1040	1.69e-2	SMART
LRR	1083	1105	1.31e2	SMART
LRR	1107	1132	2.9e2	SMART
LRR	1147	1171	2.04e2	SMART
LRR	1172	1197	1.1e1	SMART
LRR	1227	1252	3.91e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121739

SMART Domains

Protein: ENSMUSP00000114049
Gene: ENSMUSG00000029475

Domain	Start	End	E-Value	Type
Blast:JmjC	1	46	2e-19	BLAST
JmjC	92	260	3.61e-41	SMART
low complexity region	325	346	N/A	INTRINSIC
low complexity region	351	369	N/A	INTRINSIC
PDB:2YU2\|A	417	491	1e-17	PDB
Pfam:zf-CXXC	523	569	5.4e-17	PFAM
PHD	579	641	8.58e-4	SMART
low complexity region	737	768	N/A	INTRINSIC
low complexity region	848	858	N/A	INTRINSIC
low complexity region	935	951	N/A	INTRINSIC
low complexity region	963	977	N/A	INTRINSIC
FBOX	983	1023	1.69e-2	SMART
LRR	1066	1088	1.31e2	SMART
LRR	1090	1115	2.9e2	SMART
LRR	1130	1154	2.04e2	SMART
LRR	1155	1180	1.1e1	SMART
LRR	1210	1235	3.91e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127403

Predicted Effect

probably benign
Transcript: ENSMUST00000198602

SMART Domains

Protein: ENSMUSP00000143603
Gene: ENSMUSG00000029474

Domain	Start	End	E-Value	Type
Blast:RING	2	29	5e-9	BLAST
PDB:1Y02\|A	2	75	2e-18	PDB
low complexity region	78	105	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830408C21Rik	A	T	13: 107,168,905 (GRCm39)		noncoding transcript	Het
Adam5	T	A	8: 25,294,511 (GRCm39)	K363*	probably null	Het
Adamts12	T	C	15: 11,286,836 (GRCm39)	Y814H	probably benign	Het
Adar	G	T	3: 89,642,476 (GRCm39)	G119V	probably benign	Het
Adprs	G	T	4: 126,211,869 (GRCm39)	Q148K	probably damaging	Het
Atr	G	T	9: 95,748,641 (GRCm39)	L395F	probably damaging	Het
Bahcc1	A	G	11: 120,176,192 (GRCm39)	I1946V	possibly damaging	Het
Bend4	T	A	5: 67,575,284 (GRCm39)	D199V	probably damaging	Het
Bpifb1	C	A	2: 154,046,712 (GRCm39)	H77Q	probably benign	Het
Clca3a1	T	C	3: 144,714,833 (GRCm39)	T595A	probably benign	Het
Crebbp	A	T	16: 3,905,499 (GRCm39)		probably benign	Het
Cxcl16	T	C	11: 70,349,990 (GRCm39)	D12G	probably damaging	Het
Dnah10	T	C	5: 124,819,090 (GRCm39)	W459R	probably benign	Het
Dock8	T	C	19: 25,099,785 (GRCm39)	L636P	probably damaging	Het
Eif2ak3	A	G	6: 70,853,824 (GRCm39)	T197A	probably benign	Het
Fbxo40	T	A	16: 36,790,692 (GRCm39)	R139S	probably benign	Het
Fer	C	A	17: 64,231,152 (GRCm39)	T301K	probably damaging	Het
Fgf21	A	T	7: 45,264,729 (GRCm39)	M1K	probably null	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm38706	A	T	6: 130,459,963 (GRCm39)		noncoding transcript	Het
H2-Q6	A	C	17: 35,644,628 (GRCm39)	Y139S	probably damaging	Het
Ift70a2	T	C	2: 75,808,074 (GRCm39)	D146G	probably benign	Het
Igkv4-53	A	T	6: 69,625,991 (GRCm39)	Y59N	probably damaging	Het
Jrkl	T	C	9: 13,244,891 (GRCm39)	M257V	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Klhl26	T	A	8: 70,904,404 (GRCm39)	Y468F	probably damaging	Het
Lamb2	T	A	9: 108,357,950 (GRCm39)		probably null	Het
Lcp1	A	G	14: 75,464,422 (GRCm39)	T548A	probably benign	Het
Lct	T	A	1: 128,228,073 (GRCm39)	Q1140L	probably benign	Het
Lrp2	T	G	2: 69,281,726 (GRCm39)	N3882H	probably damaging	Het
Magi1	A	G	6: 93,657,852 (GRCm39)	I1126T	probably benign	Het
Magi1	A	G	6: 93,722,682 (GRCm39)	S399P	probably damaging	Het
Med16	A	G	10: 79,731,243 (GRCm39)	C825R	probably damaging	Het
Mtx3	C	T	13: 92,984,095 (GRCm39)	P124L	probably damaging	Het
Nabp2	C	T	10: 128,245,555 (GRCm39)		probably benign	Het
Or5b113	T	A	19: 13,342,515 (GRCm39)	H174Q	possibly damaging	Het
Pak4	A	T	7: 28,264,005 (GRCm39)	S244T	possibly damaging	Het
Pccb	C	T	9: 100,869,900 (GRCm39)	V307I	probably benign	Het
Plekhh2	A	G	17: 84,874,233 (GRCm39)	D506G	probably benign	Het
Plk4	T	C	3: 40,755,481 (GRCm39)	V26A	probably damaging	Het
Ppp2r3c	A	T	12: 55,344,617 (GRCm39)	M117K	probably benign	Het
Pramel21	A	G	4: 143,344,026 (GRCm39)	D442G	probably benign	Het
Pspc1	C	T	14: 57,015,529 (GRCm39)	E30K	probably benign	Het
Reps1	A	G	10: 17,990,231 (GRCm39)	S448G	possibly damaging	Het
Sgta	A	T	10: 80,883,522 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Siglech	A	G	7: 55,418,293 (GRCm39)	N87S	probably damaging	Het
Sptbn1	A	G	11: 30,094,113 (GRCm39)	I392T	possibly damaging	Het
St18	T	A	1: 6,841,174 (GRCm39)	M21K	probably benign	Het
Sugp1	C	T	8: 70,522,799 (GRCm39)	R500C	probably damaging	Het
Tasp1	T	C	2: 139,899,339 (GRCm39)	K5E	probably damaging	Het
Tbx3	G	A	5: 119,813,668 (GRCm39)	V235I	possibly damaging	Het
Toporsl	A	T	4: 52,611,346 (GRCm39)	N413I	probably damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Zfp60	A	G	7: 27,447,758 (GRCm39)	Y142C	probably benign	Het

Other mutations in Rnf34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB004:Rnf34	UTSW	5	122,988,288 (GRCm39)	start gained	probably benign
BB014:Rnf34	UTSW	5	122,988,288 (GRCm39)	start gained	probably benign
R0612:Rnf34	UTSW	5	123,002,237 (GRCm39)	missense	probably damaging	1.00
R3800:Rnf34	UTSW	5	123,002,273 (GRCm39)	missense	probably damaging	0.99
R4823:Rnf34	UTSW	5	122,988,365 (GRCm39)	splice site	probably null
R5881:Rnf34	UTSW	5	123,002,146 (GRCm39)	missense	probably damaging	1.00
R6399:Rnf34	UTSW	5	122,999,839 (GRCm39)	missense	probably benign	0.00
R7927:Rnf34	UTSW	5	122,988,288 (GRCm39)	start gained	probably benign
R8853:Rnf34	UTSW	5	123,002,087 (GRCm39)	missense	possibly damaging	0.85
R9114:Rnf34	UTSW	5	122,999,957 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTAGATCTGGTCTCAAAAGAG -3'
(R):5'- AACTACCTGGCCTACTTTGC -3'

Sequencing Primer
(F):5'- CCTGGTAGGCATGTCAAATTCATG -3'
(R):5'- GCTCCCTGTGGCCCTAGATAC -3'

Posted On

2017-01-03