Mutagenetix > Incidental Mutation

Incidental Mutation 'R8427:Rnf133'

653517

Institutional Source

Beutler Lab

Gene Symbol

Rnf133

Ensembl Gene

ENSMUSG00000051956

Gene Name

ring finger protein 133

Synonyms

Greul2

MMRRC Submission

067821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8427 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23648868-23650304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23649405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 175 (I175V)

Ref Sequence

ENSEMBL: ENSMUSP00000066906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018122] [ENSMUST00000063548] [ENSMUST00000069074] [ENSMUST00000104979] [ENSMUST00000115354] [ENSMUST00000115356] [ENSMUST00000115358] [ENSMUST00000115361] [ENSMUST00000142913] [ENSMUST00000166458] [ENSMUST00000163871]

AlphaFold

Q14B02

Predicted Effect

probably benign
Transcript: ENSMUST00000018122

SMART Domains

Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	902	1.14e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063548
AA Change: I175V

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

SMART Domains

Protein: ENSMUSP00000066906
Gene: ENSMUSG00000051956
AA Change: I175V

Domain	Start	End	E-Value	Type
Pfam:PA	94	162	3.6e-11	PFAM
RING	213	253	6.43e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069074

SMART Domains

Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	895	5.54e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000104979

SMART Domains

Protein: ENSMUSP00000100592
Gene: ENSMUSG00000078179

Domain	Start	End	E-Value	Type
low complexity region	25	43	N/A	INTRINSIC
Pfam:PA	82	178	1e-13	PFAM
RING	269	309	1.82e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115354
AA Change: I218V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111011
Gene: ENSMUSG00000051956
AA Change: I218V

Domain	Start	End	E-Value	Type
Pfam:PA	70	165	1.9e-13	PFAM
RING	256	296	6.43e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115356

SMART Domains

Protein: ENSMUSP00000111013
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115358

SMART Domains

Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	902	1.14e-52	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136279

Predicted Effect

probably benign
Transcript: ENSMUST00000115361

SMART Domains

Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	892	1.9e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142913

SMART Domains

Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	22	39	N/A	INTRINSIC
low complexity region	85	97	N/A	INTRINSIC
coiled coil region	236	256	N/A	INTRINSIC
C2	340	438	1.51e-1	SMART
PH	463	567	2.94e-11	SMART
DUF1041	772	873	1.14e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166458

SMART Domains

Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	85	97	N/A	INTRINSIC
coiled coil region	236	256	N/A	INTRINSIC
C2	340	438	1.51e-1	SMART
PH	463	567	2.94e-11	SMART
DUF1041	772	873	1.05e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163871

SMART Domains

Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	902	7.2e-50	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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 RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene has no intron. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	G	T	12: 72,950,060 (GRCm39)	S271R	possibly damaging	Het
Adrb2	A	G	18: 62,312,345 (GRCm39)	V160A	possibly damaging	Het
Atp13a5	T	C	16: 29,167,820 (GRCm39)	D113G	possibly damaging	Het
B4galt7	T	A	13: 55,757,138 (GRCm39)	V312D	possibly damaging	Het
Bccip	A	G	7: 133,311,220 (GRCm39)	D45G	probably benign	Het
Bcl2l2	A	G	14: 55,122,860 (GRCm39)	Y151C	probably damaging	Het
Ccdc146	T	C	5: 21,604,790 (GRCm39)	E16G	unknown	Het
Cdr2l	C	A	11: 115,284,865 (GRCm39)	D400E	probably damaging	Het
Celsr2	A	C	3: 108,299,949 (GRCm39)	*2920E	probably null	Het
Cib1	A	G	7: 79,877,749 (GRCm39)	F183L	probably damaging	Het
Cnot1	A	G	8: 96,460,952 (GRCm39)	Y1716H	probably benign	Het
Copb1	A	G	7: 113,825,989 (GRCm39)	V665A	probably benign	Het
Crmp1	C	T	5: 37,448,539 (GRCm39)	T683I	probably damaging	Het
Cubn	G	C	2: 13,433,567 (GRCm39)	F1114L	probably benign	Het
Dab2	A	T	15: 6,458,840 (GRCm39)	R251*	probably null	Het
Ddx28	A	G	8: 106,736,912 (GRCm39)	V382A	probably benign	Het
Eml1	C	A	12: 108,496,580 (GRCm39)	T612K	probably damaging	Het
Hoxb3	CGGCGGTGGCGG	CGGCGGTGGCGGTGGCGG	11: 96,236,415 (GRCm39)		probably benign	Het
Hoxb3	TGGCGG	TGGCGGAGGCGG	11: 96,236,421 (GRCm39)		probably benign	Het
Iapp	T	A	6: 142,244,612 (GRCm39)	I13N	probably damaging	Het
Ifit1bl1	A	T	19: 34,576,666 (GRCm39)		probably null	Het
Itgb4	T	A	11: 115,882,544 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,124,934 (GRCm39)	V128A	probably benign	Het
Kmt2a	A	G	9: 44,756,720 (GRCm39)	F1176L	probably damaging	Het
Lifr	A	G	15: 7,220,462 (GRCm39)	T1031A	probably benign	Het
Lrp2	T	C	2: 69,281,641 (GRCm39)	D3910G	probably damaging	Het
Man1a2	A	T	3: 100,592,001 (GRCm39)	S60T	probably benign	Het
Mdh1	C	T	11: 21,514,138 (GRCm39)	R93K	probably benign	Het
Mical1	G	T	10: 41,354,591 (GRCm39)	K142N	probably damaging	Het
Nf2	T	A	11: 4,741,118 (GRCm39)	E365D	probably benign	Het
Nfrkb	A	G	9: 31,330,323 (GRCm39)	M1192V	probably benign	Het
Npas4	A	C	19: 5,036,108 (GRCm39)	D685E	probably benign	Het
Or11h4b	T	A	14: 50,918,606 (GRCm39)	I162F	probably damaging	Het
Or12k5	G	T	2: 36,894,794 (GRCm39)	Y277*	probably null	Het
Or4f4-ps1	A	G	2: 111,330,310 (GRCm39)	T238A	probably damaging	Het
Ovch2	G	A	7: 107,393,207 (GRCm39)	T222I	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pld1	A	T	3: 28,142,795 (GRCm39)	I668F	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppa1	A	G	10: 61,496,704 (GRCm39)	D64G	possibly damaging	Het
Rpp30	A	G	19: 36,071,812 (GRCm39)	I127V	probably benign	Het
Scube2	T	A	7: 109,399,797 (GRCm39)	H913L	probably damaging	Het
Sema6d	T	A	2: 124,507,197 (GRCm39)	S1045T	probably benign	Het
Skida1	A	T	2: 18,051,402 (GRCm39)	N496K	unknown	Het
Slc29a2	A	T	19: 5,080,448 (GRCm39)	I397F	probably benign	Het
Slc38a2	G	T	15: 96,590,294 (GRCm39)	R316S	probably damaging	Het
Slc40a1	A	C	1: 45,951,498 (GRCm39)	Y220D	probably damaging	Het
Strc	T	G	2: 121,208,012 (GRCm39)	H453P	probably damaging	Het
Tmprss3	T	A	17: 31,407,358 (GRCm39)	I312F	probably damaging	Het
Tnn	G	A	1: 159,958,256 (GRCm39)	T529I	probably damaging	Het
Tnr	A	T	1: 159,713,801 (GRCm39)	D743V	possibly damaging	Het
Trim42	A	T	9: 97,245,174 (GRCm39)	F542Y	probably benign	Het
Trpm2	A	T	10: 77,747,236 (GRCm39)	Y1421N	possibly damaging	Het
Ttn	T	C	2: 76,576,901 (GRCm39)	E24664G	probably damaging	Het
Ube2q2	T	C	9: 55,092,250 (GRCm39)		probably null	Het
Unc79	A	T	12: 103,045,297 (GRCm39)	R824S	probably benign	Het
V1ra8	A	G	6: 90,180,559 (GRCm39)	D254G	probably damaging	Het
Vmn1r173	A	T	7: 23,401,959 (GRCm39)	I65F	probably damaging	Het
Vmn2r16	T	A	5: 109,488,138 (GRCm39)	M337K	probably benign	Het
Wfs1	C	A	5: 37,125,431 (GRCm39)	G487C	probably damaging	Het
Xdh	T	C	17: 74,242,926 (GRCm39)	Y127C	probably damaging	Het
Zfp229	T	C	17: 21,965,815 (GRCm39)	S682P	probably damaging	Het
Zscan4-ps1	A	T	7: 10,802,447 (GRCm39)	D117E	possibly damaging	Het

Other mutations in Rnf133

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Rnf133	APN	6	23,649,255 (GRCm39)	missense	probably benign	0.00
IGL01907:Rnf133	APN	6	23,649,303 (GRCm39)	missense	probably benign	0.04
IGL01972:Rnf133	APN	6	23,648,988 (GRCm39)	missense	probably benign	0.00
IGL03025:Rnf133	APN	6	23,649,134 (GRCm39)	missense	probably benign	0.03
R0682:Rnf133	UTSW	6	23,649,569 (GRCm39)	missense	probably damaging	1.00
R2251:Rnf133	UTSW	6	23,649,174 (GRCm39)	missense	probably benign	0.01
R2253:Rnf133	UTSW	6	23,649,174 (GRCm39)	missense	probably benign	0.01
R2970:Rnf133	UTSW	6	23,649,405 (GRCm39)	missense	probably benign	0.01
R4204:Rnf133	UTSW	6	23,649,048 (GRCm39)	missense	probably benign	0.00
R4600:Rnf133	UTSW	6	23,649,041 (GRCm39)	missense	possibly damaging	0.86
R4601:Rnf133	UTSW	6	23,649,041 (GRCm39)	missense	possibly damaging	0.86
R5123:Rnf133	UTSW	6	23,649,259 (GRCm39)	missense	probably damaging	0.99
R6845:Rnf133	UTSW	6	23,649,341 (GRCm39)	missense	possibly damaging	0.83
R6877:Rnf133	UTSW	6	23,649,486 (GRCm39)	missense	probably benign	0.01
R7263:Rnf133	UTSW	6	23,649,667 (GRCm39)	nonsense	probably null
R9111:Rnf133	UTSW	6	23,648,928 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTTTGCAAGTGAGAATCCGAAC -3'
(R):5'- TGTCTCACCAGGCGTTTGAAG -3'

Sequencing Primer
(F):5'- GCAAGTGAGAATCCGAACTATTTC -3'
(R):5'- TCACCAGGCGTTTGAAGACATC -3'

Posted On

2020-10-20