Mutagenetix > Incidental Mutation

Incidental Mutation 'R7622:Rnf13'

589181

Institutional Source

Beutler Lab

Gene Symbol

Rnf13

Ensembl Gene

ENSMUSG00000036503

Gene Name

ring finger protein 13

Synonyms

2010001H16Rik, Rzf

MMRRC Submission

045717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7622 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57643483-57742654 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 57727955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 212 (R212*)

Ref Sequence

ENSEMBL: ENSMUSP00000049331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041826] [ENSMUST00000197205] [ENSMUST00000198214] [ENSMUST00000199041] [ENSMUST00000200497]

AlphaFold

O54965

Predicted Effect

probably null
Transcript: ENSMUST00000041826
AA Change: R212*

SMART Domains

Protein: ENSMUSP00000049331
Gene: ENSMUSG00000036503
AA Change: R212*

Domain	Start	End	E-Value	Type
Pfam:PA	63	160	1.3e-14	PFAM
transmembrane domain	182	204	N/A	INTRINSIC
low complexity region	208	226	N/A	INTRINSIC
RING	240	281	1.85e-8	SMART
low complexity region	291	299	N/A	INTRINSIC
low complexity region	336	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197205

SMART Domains

Protein: ENSMUSP00000143692
Gene: ENSMUSG00000036503

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
Pfam:PA	62	153	2.9e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000198214
AA Change: R212*

SMART Domains

Protein: ENSMUSP00000143498
Gene: ENSMUSG00000036503
AA Change: R212*

Domain	Start	End	E-Value	Type
Pfam:PA	63	160	5.1e-15	PFAM
transmembrane domain	182	204	N/A	INTRINSIC
low complexity region	208	226	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000199041
AA Change: R212*

SMART Domains

Protein: ENSMUSP00000142335
Gene: ENSMUSG00000036503
AA Change: R212*

Domain	Start	End	E-Value	Type
Pfam:PA	59	162	6.6e-15	PFAM
transmembrane domain	182	204	N/A	INTRINSIC
SCOP:d1ldjb_	211	260	2e-7	SMART
Blast:RING	240	267	5e-9	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000200497
AA Change: R212*

SMART Domains

Protein: ENSMUSP00000142462
Gene: ENSMUSG00000036503
AA Change: R212*

Domain	Start	End	E-Value	Type
Pfam:PA	59	162	1.1e-14	PFAM
transmembrane domain	182	204	N/A	INTRINSIC
SCOP:d1ldjb_	211	260	1e-7	SMART
Blast:RING	240	261	9e-8	BLAST
low complexity region	262	270	N/A	INTRINSIC
low complexity region	307	328	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: This gene encodes a member of the PA-TM-RING family of proteins that contain a protease associated (PA) domain and a RING finger domain separated by a transmembrane (TM) domain. The encoded protein is an E3 ubiquitin ligase localized to the endosomal-lysosomal vesicles and inner nuclear membrane. Mice lacking the encoded protein have impaired learning abilities associated with a decreased synaptic vesicle density and dysregulated SNARE complex assembly. Alternative splicing of this gene results in multiple transcript variants. A pseudogene for this gene has been identified on the X chromosome. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	G	A	5: 129,216,688 (GRCm39)	D384N	probably benign	Het
Aqp8	T	C	7: 123,065,883 (GRCm39)	F226S	possibly damaging	Het
Arl6ip6	A	G	2: 53,107,339 (GRCm39)	Y207C	probably damaging	Het
Bltp1	C	A	3: 37,002,562 (GRCm39)	C1502*	probably null	Het
Cbfa2t2	A	G	2: 154,342,365 (GRCm39)	E27G	possibly damaging	Het
Cdc42bpb	T	G	12: 111,261,206 (GRCm39)	E201A	unknown	Het
Cfap54	A	C	10: 92,792,806 (GRCm39)	V1769G	unknown	Het
Dmxl2	C	T	9: 54,379,502 (GRCm39)	G7S	probably damaging	Het
Dnah6	G	T	6: 73,101,742 (GRCm39)	F1927L	possibly damaging	Het
Dnajc6	A	G	4: 101,497,688 (GRCm39)	E942G	probably damaging	Het
Fam170a	A	G	18: 50,415,969 (GRCm39)	R324G	probably benign	Het
Gapdhs	G	A	7: 30,438,756 (GRCm39)	T9I	unknown	Het
Gm10320	T	A	13: 98,626,232 (GRCm39)	R51*	probably null	Het
Gm19410	A	T	8: 36,277,501 (GRCm39)	T1776S	possibly damaging	Het
Gm4846	A	T	1: 166,323,441 (GRCm39)	M94K	possibly damaging	Het
Ighv2-5	G	A	12: 113,649,358 (GRCm39)	Q32*	probably null	Het
Klc2	T	C	19: 5,161,660 (GRCm39)	E310G	probably damaging	Het
Krt75	A	G	15: 101,478,707 (GRCm39)	M309T	probably damaging	Het
Lrp11	G	A	10: 7,465,936 (GRCm39)	G41R	unknown	Het
Lrrc52	G	T	1: 167,293,664 (GRCm39)	P207Q	probably benign	Het
Lrrc52	G	T	1: 167,293,665 (GRCm39)	P207T	probably benign	Het
Lrrk2	A	T	15: 91,696,526 (GRCm39)	D2438V	probably damaging	Het
Mycbp	C	T	4: 123,799,094 (GRCm39)	T28M	probably damaging	Het
Myh14	A	G	7: 44,281,846 (GRCm39)	V804A	probably benign	Het
Myo16	A	G	8: 10,426,238 (GRCm39)	I332V	unknown	Het
Ncor1	G	T	11: 62,208,794 (GRCm39)	Q1359K	probably benign	Het
Oog3	T	C	4: 143,884,889 (GRCm39)	D349G	probably benign	Het
Or12e1	A	T	2: 87,022,594 (GRCm39)	I188L	probably benign	Het
Or1j21	A	G	2: 36,683,943 (GRCm39)	K232E	probably benign	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or8k53	A	G	2: 86,178,006 (GRCm39)	Y35H	possibly damaging	Het
Pate4	A	G	9: 35,519,595 (GRCm39)	S32P	possibly damaging	Het
Pcdhb7	A	C	18: 37,475,514 (GRCm39)	S217R	probably benign	Het
Pde1c	G	A	6: 56,103,910 (GRCm39)	R580C	probably damaging	Het
Pi4ka	C	A	16: 17,111,841 (GRCm39)	A1545S		Het
Pign	G	T	1: 105,575,842 (GRCm39)	T266K	possibly damaging	Het
Pitpnm2	A	G	5: 124,260,090 (GRCm39)	I1134T	probably benign	Het
Ppfia2	G	A	10: 106,666,520 (GRCm39)	V409I	possibly damaging	Het
Prr7	A	G	13: 55,620,609 (GRCm39)	T206A	probably benign	Het
Rwdd2b	T	C	16: 87,231,500 (GRCm39)	N218S	probably benign	Het
Serpina3m	A	G	12: 104,355,834 (GRCm39)	D167G	possibly damaging	Het
Slit2	A	T	5: 48,142,547 (GRCm39)	N56Y	probably damaging	Het
Sprr3	G	T	3: 92,364,592 (GRCm39)	T84K	probably damaging	Het
Stab2	A	T	10: 86,709,766 (GRCm39)	H1626Q	possibly damaging	Het
Tex2	C	A	11: 106,437,721 (GRCm39)	D650Y	unknown	Het
Tmprss6	A	G	15: 78,330,926 (GRCm39)	S436P	probably benign	Het
Uba2	A	C	7: 33,864,860 (GRCm39)	F63L	probably damaging	Het
Ubxn2b	C	T	4: 6,214,692 (GRCm39)	S242L	probably damaging	Het
Vmn1r86	T	G	7: 12,836,685 (GRCm39)	I64L	probably benign	Het
Vmn2r67	A	T	7: 84,785,662 (GRCm39)	V781E	probably damaging	Het
Vmn2r80	T	A	10: 79,030,097 (GRCm39)	F641Y	probably damaging	Het
Wdfy4	A	T	14: 32,800,231 (GRCm39)	I1965K		Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Wdr90	G	T	17: 26,073,083 (GRCm39)	F837L	probably benign	Het
Xpo4	A	G	14: 57,834,468 (GRCm39)	V704A	possibly damaging	Het
Zc3h12d	A	G	10: 7,743,033 (GRCm39)	K268E	probably damaging	Het

Other mutations in Rnf13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Rnf13	APN	3	57,714,508 (GRCm39)	missense	probably benign	0.06
IGL01835:Rnf13	APN	3	57,728,007 (GRCm39)	missense	probably damaging	1.00
IGL02219:Rnf13	APN	3	57,703,644 (GRCm39)	missense	probably damaging	1.00
IGL02675:Rnf13	APN	3	57,686,817 (GRCm39)	missense	probably benign	0.17
IGL03015:Rnf13	APN	3	57,741,165 (GRCm39)	missense	possibly damaging	0.74
IGL03246:Rnf13	APN	3	57,676,471 (GRCm39)	missense	probably damaging	0.98
solomon	UTSW	3	57,727,955 (GRCm39)	nonsense	probably null
BB005:Rnf13	UTSW	3	57,671,729 (GRCm39)	missense	probably benign	0.18
BB015:Rnf13	UTSW	3	57,671,729 (GRCm39)	missense	probably benign	0.18
R0147:Rnf13	UTSW	3	57,709,889 (GRCm39)	missense	probably damaging	0.98
R0481:Rnf13	UTSW	3	57,714,474 (GRCm39)	missense	probably damaging	1.00
R0481:Rnf13	UTSW	3	57,686,872 (GRCm39)	missense	probably damaging	1.00
R1389:Rnf13	UTSW	3	57,686,917 (GRCm39)	missense	probably damaging	1.00
R2146:Rnf13	UTSW	3	57,709,907 (GRCm39)	missense	probably null	0.99
R3964:Rnf13	UTSW	3	57,676,533 (GRCm39)	missense	probably damaging	0.96
R4444:Rnf13	UTSW	3	57,728,010 (GRCm39)	missense	probably damaging	1.00
R4446:Rnf13	UTSW	3	57,728,010 (GRCm39)	missense	probably damaging	1.00
R4489:Rnf13	UTSW	3	57,728,010 (GRCm39)	missense	probably damaging	1.00
R4810:Rnf13	UTSW	3	57,703,693 (GRCm39)	missense	probably damaging	0.99
R4940:Rnf13	UTSW	3	57,703,627 (GRCm39)	missense	probably damaging	0.98
R6233:Rnf13	UTSW	3	57,740,391 (GRCm39)	missense	possibly damaging	0.83
R7002:Rnf13	UTSW	3	57,741,033 (GRCm39)	missense	probably damaging	0.96
R7652:Rnf13	UTSW	3	57,671,772 (GRCm39)	missense	probably benign	0.01
R7928:Rnf13	UTSW	3	57,671,729 (GRCm39)	missense	probably benign	0.18
R8011:Rnf13	UTSW	3	57,714,491 (GRCm39)	nonsense	probably null
R8893:Rnf13	UTSW	3	57,714,520 (GRCm39)	missense	probably damaging	0.97
R9086:Rnf13	UTSW	3	57,740,997 (GRCm39)	missense	probably benign	0.16
R9116:Rnf13	UTSW	3	57,709,866 (GRCm39)	critical splice acceptor site	probably null
R9479:Rnf13	UTSW	3	57,727,983 (GRCm39)	missense	possibly damaging	0.85
R9616:Rnf13	UTSW	3	57,740,430 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCACTGTGAGCTTAATGGTTTAATC -3'
(R):5'- GTGGTGGCAATGTATATTTCTCCC -3'

Sequencing Primer
(F):5'- GTGGTTTTACAGCATCTATC -3'
(R):5'- CCTTTACCAGGCTACCAGTAC -3'

Posted On

2019-10-24