Mutagenetix > Incidental Mutation

Incidental Mutation 'R5693:Rnf183'

443758

Institutional Source

Beutler Lab

Gene Symbol

Rnf183

Ensembl Gene

ENSMUSG00000063851

Gene Name

ring finger protein 183

Synonyms

5830442J12Rik

MMRRC Submission

043180-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5693 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62345777-62353487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62346753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 15 (V15A)

Ref Sequence

ENSEMBL: ENSMUSP00000103079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079420] [ENSMUST00000084524] [ENSMUST00000107454] [ENSMUST00000107455]

AlphaFold

Q8QZS5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079420
AA Change: V15A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078389
Gene: ENSMUSG00000063851
AA Change: V15A

Domain	Start	End	E-Value	Type
RING	13	59	3.78e-5	SMART
transmembrane domain	160	182	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084524

SMART Domains

Protein: ENSMUSP00000081572
Gene: ENSMUSG00000066148

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SFM	102	154	8.92e-25	SMART
WD40	219	258	1.14e-3	SMART
WD40	261	308	1.75e-4	SMART
WD40	311	350	5.18e-7	SMART
WD40	353	392	8.04e-4	SMART
WD40	395	434	2.57e-11	SMART
WD40	437	477	2.93e-6	SMART
WD40	480	519	1.74e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107454
AA Change: V15A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103078
Gene: ENSMUSG00000063851
AA Change: V15A

Domain	Start	End	E-Value	Type
RING	13	59	3.78e-5	SMART
transmembrane domain	160	182	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107455
AA Change: V15A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103079
Gene: ENSMUSG00000063851
AA Change: V15A

Domain	Start	End	E-Value	Type
RING	13	59	3.78e-5	SMART
transmembrane domain	160	182	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,266,233 (GRCm39)	I3071V	probably benign	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Abr	T	C	11: 76,354,403 (GRCm39)	N236S	probably damaging	Het
Adcy6	T	C	15: 98,501,870 (GRCm39)	Y248C	probably damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Chd6	A	T	2: 160,807,185 (GRCm39)	S2010T	probably benign	Het
Dcc	G	A	18: 71,708,153 (GRCm39)	T521I	probably damaging	Het
Dmrtb1	G	A	4: 107,541,366 (GRCm39)		probably benign	Het
Evc	A	G	5: 37,477,584 (GRCm39)	V365A	possibly damaging	Het
Gata4	A	G	14: 63,478,594 (GRCm39)	Y2H	probably damaging	Het
Gpc1	A	G	1: 92,785,621 (GRCm39)	N437S	probably damaging	Het
Lifr	T	C	15: 7,205,041 (GRCm39)	V426A	probably damaging	Het
Lpin3	A	G	2: 160,737,320 (GRCm39)	I122M	probably benign	Het
Muc4	A	G	16: 32,597,181 (GRCm39)	N3174D	possibly damaging	Het
Myo6	G	A	9: 80,173,462 (GRCm39)	R534H	probably damaging	Het
Nectin2	T	C	7: 19,458,794 (GRCm39)	D339G	probably benign	Het
Oprd1	G	A	4: 131,871,721 (GRCm39)		probably benign	Het
Or6c66	T	C	10: 129,461,396 (GRCm39)	D178G	probably damaging	Het
Orc1	G	A	4: 108,470,276 (GRCm39)	V751I	probably benign	Het
Pacs2	T	C	12: 113,013,526 (GRCm39)	S175P	probably damaging	Het
Pik3r5	C	T	11: 68,385,077 (GRCm39)	R661C	probably damaging	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Prkar1b	A	G	5: 139,113,400 (GRCm39)	V40A	possibly damaging	Het
Ptprf	G	A	4: 118,093,374 (GRCm39)	R90*	probably null	Het
Rasef	T	C	4: 73,688,076 (GRCm39)	M26V	probably damaging	Het
Rfx1	C	A	8: 84,800,533 (GRCm39)	Q45K	unknown	Het
Slc10a2	C	A	8: 5,155,128 (GRCm39)	C19F	probably damaging	Het
Slc14a2	T	A	18: 78,190,229 (GRCm39)	I907F	probably benign	Het
Snx16	T	C	3: 10,485,318 (GRCm39)	I293V	probably benign	Het
Srcap	C	A	7: 127,118,988 (GRCm39)	A97E	probably damaging	Het
Thyn1	G	T	9: 26,916,511 (GRCm39)		probably null	Het
Tiparp	T	C	3: 65,460,913 (GRCm39)	I634T	possibly damaging	Het
Tjp1	G	A	7: 64,992,411 (GRCm39)	A156V	possibly damaging	Het
Tmem168	T	C	6: 13,602,320 (GRCm39)	M349V	probably benign	Het
Tyro3	T	G	2: 119,641,349 (GRCm39)	F519L	probably damaging	Het
Vmn1r167	A	T	7: 23,204,646 (GRCm39)	Y123*	probably null	Het
Vmn1r183	C	T	7: 23,754,227 (GRCm39)	T10I	possibly damaging	Het
Zfp654	T	C	16: 64,606,289 (GRCm39)	T97A	probably benign	Het

Other mutations in Rnf183

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Rnf183	APN	4	62,346,610 (GRCm39)	missense	probably benign	0.16
R1438:Rnf183	UTSW	4	62,346,760 (GRCm39)	missense	probably damaging	1.00
R2178:Rnf183	UTSW	4	62,346,333 (GRCm39)	missense	probably benign	0.02
R5106:Rnf183	UTSW	4	62,346,465 (GRCm39)	missense	probably damaging	1.00
R5637:Rnf183	UTSW	4	62,346,387 (GRCm39)	missense	probably benign
R6882:Rnf183	UTSW	4	62,346,261 (GRCm39)	missense	probably benign	0.38
R8560:Rnf183	UTSW	4	62,346,735 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATGGCAGTGTCTGTAG -3'
(R):5'- TCCTCCACCTGTGACATGTG -3'

Sequencing Primer
(F):5'- GTCTGTAGGCAAGTCAGTGAC -3'
(R):5'- CACCTGTGACATGTGGGTGGATAG -3'

Posted On

2016-11-09