Mutagenetix > Incidental Mutation

Incidental Mutation 'R9114:Rnf34'

692405

Institutional Source

Beutler Lab

Gene Symbol

Rnf34

Ensembl Gene

ENSMUSG00000029474

Gene Name

ring finger protein 34

Synonyms

phafin 1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R9114 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122988270-123007008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122999957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 71 (V71D)

Ref Sequence

ENSEMBL: ENSMUSP00000031434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031434] [ENSMUST00000198602]

AlphaFold

Q99KR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031434
AA Change: V71D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031434
Gene: ENSMUSG00000029474
AA Change: V71D

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,788,702 (GRCm39)	L1027*	probably null	Het
Actl11	T	A	9: 107,808,509 (GRCm39)	M944K	possibly damaging	Het
Afap1l2	T	C	19: 56,906,427 (GRCm39)	K491E	probably damaging	Het
Ahr	A	T	12: 35,561,164 (GRCm39)	D150E	probably damaging	Het
Arhgef1	T	A	7: 24,607,304 (GRCm39)	L17Q	probably damaging	Het
Bysl	A	G	17: 47,915,242 (GRCm39)	S169P		Het
C4b	A	T	17: 34,948,404 (GRCm39)	F1610I	probably damaging	Het
Chtf8	C	A	8: 107,612,481 (GRCm39)	A153S	probably benign	Het
Ciapin1	C	T	8: 95,558,400 (GRCm39)		probably null	Het
Cnnm1	A	G	19: 43,429,395 (GRCm39)	E171G	possibly damaging	Het
Crybb3	T	C	5: 113,225,407 (GRCm39)	N155S	probably benign	Het
Dclk3	T	A	9: 111,317,683 (GRCm39)	M773K	probably benign	Het
Ddx18	A	T	1: 121,489,267 (GRCm39)	V260D	probably damaging	Het
Dmxl2	T	A	9: 54,307,321 (GRCm39)	N2216Y		Het
Epn2	T	C	11: 61,437,446 (GRCm39)	E42G	probably damaging	Het
Esrrg	C	A	1: 187,878,605 (GRCm39)	P229T	probably benign	Het
Esrrg	C	A	1: 187,878,606 (GRCm39)	P229Q	possibly damaging	Het
Ethe1	G	T	7: 24,305,643 (GRCm39)	R130L	probably benign	Het
Fgl2	G	A	5: 21,580,363 (GRCm39)	C235Y	probably damaging	Het
Fmnl1	C	T	11: 103,087,327 (GRCm39)	T890M	unknown	Het
Fsip2	C	G	2: 82,807,301 (GRCm39)	P1207A	probably benign	Het
Gc	C	T	5: 89,593,165 (GRCm39)	D85N	possibly damaging	Het
Gfi1	G	A	5: 107,869,370 (GRCm39)	R287W	probably damaging	Het
Gm3629	T	C	14: 17,834,566 (GRCm39)		probably null	Het
Hapln3	A	G	7: 78,771,712 (GRCm39)	F59S	probably benign	Het
Il24	G	A	1: 130,813,483 (GRCm39)	T38I	possibly damaging	Het
Izumo1	A	G	7: 45,276,583 (GRCm39)	D382G	probably benign	Het
Kdm5a	T	A	6: 120,382,887 (GRCm39)	Y739*	probably null	Het
Kif2b	T	A	11: 91,466,538 (GRCm39)	I582F	possibly damaging	Het
Klhdc1	A	G	12: 69,288,783 (GRCm39)	Y31C	probably damaging	Het
Lama1	G	A	17: 68,128,669 (GRCm39)	E3009K		Het
Mad2l1bp	G	A	17: 46,458,958 (GRCm39)	R191C	probably damaging	Het
Mark1	A	C	1: 184,644,261 (GRCm39)	S468A	probably damaging	Het
Mknk2	T	A	10: 80,504,823 (GRCm39)	N236Y	probably damaging	Het
Muc2	T	A	7: 141,287,983 (GRCm39)	C251*	probably null	Het
Nacad	T	C	11: 6,552,252 (GRCm39)	D313G	probably damaging	Het
Neb	G	T	2: 52,099,599 (GRCm39)	D4750E	probably benign	Het
Nlrp6	T	C	7: 140,506,332 (GRCm39)	S758P	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or13a28	A	C	7: 140,218,282 (GRCm39)	I223L	probably benign	Het
Or51b4	T	C	7: 103,530,569 (GRCm39)	T294A	possibly damaging	Het
Or8b3b	A	G	9: 38,583,892 (GRCm39)	F283L	probably benign	Het
Oxtr	A	G	6: 112,466,481 (GRCm39)	V93A	probably damaging	Het
Pbx3	C	A	2: 34,103,271 (GRCm39)	D234Y	probably damaging	Het
Pde4b	A	T	4: 102,459,826 (GRCm39)	T554S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pid1	A	T	1: 84,015,955 (GRCm39)	Y151N	probably damaging	Het
Plcd4	A	G	1: 74,591,307 (GRCm39)	E234G	possibly damaging	Het
Pou6f1	A	G	15: 100,478,789 (GRCm39)	V373A	probably benign	Het
Ppp1r12c	T	C	7: 4,485,792 (GRCm39)	K685E	possibly damaging	Het
Rpap2	T	G	5: 107,746,156 (GRCm39)	H11Q	possibly damaging	Het
Skint2	A	G	4: 112,496,834 (GRCm39)	T247A	probably benign	Het
Stat5b	T	A	11: 100,692,350 (GRCm39)	N145Y	probably damaging	Het
Sv2b	A	G	7: 74,856,017 (GRCm39)	L91P	probably damaging	Het
Syt1	A	G	10: 108,340,376 (GRCm39)	I314T	probably damaging	Het
Tlk1	A	T	2: 70,572,502 (GRCm39)	N355K	probably benign	Het
Tnc	C	A	4: 63,890,973 (GRCm39)	M1636I	probably benign	Het
Trank1	C	A	9: 111,162,843 (GRCm39)	A34D	probably damaging	Het
Unc13c	A	G	9: 73,719,665 (GRCm39)	I1001T	probably benign	Het
Vdr	T	C	15: 97,765,136 (GRCm39)	D201G	probably benign	Het
Vmn2r115	A	T	17: 23,564,307 (GRCm39)	I160L	probably benign	Het
Wdr81	C	A	11: 75,335,250 (GRCm39)	R1772L	probably damaging	Het
Zfp457	T	C	13: 67,442,068 (GRCm39)	D169G	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
R5724:Rnf34	UTSW	5	123,004,952 (GRCm39)	nonsense	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

Predicted Primers

PCR Primer
(F):5'- TGCTGAATGAAGTCATGGGAAC -3'
(R):5'- ACTGCATAGTTTCCCAAATGGG -3'

Sequencing Primer
(F):5'- TCATGGGAACTGGAGCTGTCC -3'
(R):5'- CTATCTTGAAAAACCAAGGGG -3'

Posted On

2021-12-30