Mutagenetix > Incidental Mutation

Incidental Mutation 'R8893:Rnf13'

677810

Institutional Source

Beutler Lab

Gene Symbol

Rnf13

Ensembl Gene

ENSMUSG00000036503

Gene Name

ring finger protein 13

Synonyms

2010001H16Rik, Rzf

MMRRC Submission

068696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57643483-57742654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 57714520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 193 (I193S)

Ref Sequence

ENSEMBL: ENSMUSP00000049331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041826] [ENSMUST00000197205] [ENSMUST00000198214] [ENSMUST00000198249] [ENSMUST00000199041] [ENSMUST00000200497]

AlphaFold

O54965

Predicted Effect

probably damaging
Transcript: ENSMUST00000041826
AA Change: I193S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049331
Gene: ENSMUSG00000036503
AA Change: I193S

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 damaging
Transcript: ENSMUST00000198214
AA Change: I193S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143498
Gene: ENSMUSG00000036503
AA Change: I193S

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 benign
Transcript: ENSMUST00000198249

SMART Domains

Protein: ENSMUSP00000142828
Gene: ENSMUSG00000036503

Domain	Start	End	E-Value	Type
Pfam:PA	33	131	2.5e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000199041
AA Change: I193S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142335
Gene: ENSMUSG00000036503
AA Change: I193S

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 damaging
Transcript: ENSMUST00000200497
AA Change: I193S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142462
Gene: ENSMUSG00000036503
AA Change: I193S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,274,511 (GRCm39)	D749G	probably benign	Het
Ank1	T	A	8: 23,598,241 (GRCm39)	I782N	probably damaging	Het
Arap2	T	A	5: 62,888,037 (GRCm39)	Q436H	probably damaging	Het
Baz2b	A	C	2: 59,755,149 (GRCm39)	F269L	probably damaging	Het
Bivm	C	T	1: 44,158,439 (GRCm39)		probably benign	Het
Brsk1	A	T	7: 4,711,089 (GRCm39)	D603V	probably damaging	Het
C2cd3	C	T	7: 100,104,004 (GRCm39)	P2006S	probably benign	Het
Cacna1a	T	C	8: 85,313,764 (GRCm39)	F1513L	probably benign	Het
Cdin1	T	A	2: 115,505,265 (GRCm39)	S179T	probably benign	Het
Cep128	C	T	12: 91,263,006 (GRCm39)	E298K	probably damaging	Het
Cfap74	A	G	4: 155,531,152 (GRCm39)	T802A	unknown	Het
Cnbd2	G	A	2: 156,154,460 (GRCm39)	R3Q	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Defa28	C	T	8: 22,073,840 (GRCm39)	T81I		Het
Dync1h1	A	G	12: 110,608,477 (GRCm39)	D2735G	probably damaging	Het
Eif5b	A	T	1: 38,090,300 (GRCm39)	I1160F	possibly damaging	Het
Fzd9	T	C	5: 135,279,178 (GRCm39)	M236V	possibly damaging	Het
H2ac7	A	G	13: 23,758,664 (GRCm39)	Q7R	unknown	Het
Haus6	A	G	4: 86,501,364 (GRCm39)	S836P	possibly damaging	Het
Hdac5	T	A	11: 102,097,512 (GRCm39)	K167I	possibly damaging	Het
Heatr5b	C	G	17: 79,069,424 (GRCm39)		probably benign	Het
Impdh1	G	A	6: 29,216,248 (GRCm39)		probably benign	Het
Iqgap3	T	C	3: 87,997,193 (GRCm39)	I192T	probably damaging	Het
Lama1	C	T	17: 68,112,367 (GRCm39)	A2269V		Het
Lamb3	A	G	1: 193,014,644 (GRCm39)	N601S	probably damaging	Het
Ltbp2	G	T	12: 84,875,316 (GRCm39)	N569K	probably damaging	Het
Macf1	T	C	4: 123,304,323 (GRCm39)	S60G	probably benign	Het
Marchf6	A	T	15: 31,498,850 (GRCm39)	V149E	probably damaging	Het
Mcu	A	G	10: 59,287,078 (GRCm39)	S160P	probably benign	Het
Miga1	A	G	3: 151,982,294 (GRCm39)	L594P	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Ndst2	A	G	14: 20,774,830 (GRCm39)	I791T	probably benign	Het
Nebl	A	T	2: 17,735,671 (GRCm39)	M1K	probably null	Het
Or2bd2	T	C	7: 6,443,285 (GRCm39)	C129R	probably damaging	Het
Or5c1	A	G	2: 37,222,388 (GRCm39)	I210V	probably damaging	Het
Ormdl1	A	T	1: 53,344,708 (GRCm39)	D90V	probably damaging	Het
Pank1	A	T	19: 34,804,903 (GRCm39)		probably benign	Het
Pcdhac2	T	A	18: 37,277,071 (GRCm39)	L17Q	probably benign	Het
Pde3a	A	T	6: 141,405,522 (GRCm39)	D458V	probably damaging	Het
Pgm1	T	G	4: 99,824,297 (GRCm39)	N323K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pigw	A	T	11: 84,767,961 (GRCm39)	I456K	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnc1	T	A	10: 94,685,709 (GRCm39)	I761L	probably benign	Het
Pramel22	A	T	4: 143,382,060 (GRCm39)	M212K	probably damaging	Het
Prkaca	A	G	8: 84,717,151 (GRCm39)	N172D	probably damaging	Het
Rab3b	A	C	4: 108,797,925 (GRCm39)	D192A	probably benign	Het
Rims2	T	C	15: 39,398,350 (GRCm39)	L1105P	probably benign	Het
Rinl	T	A	7: 28,491,747 (GRCm39)	I100N	probably damaging	Het
Rnf213	A	G	11: 119,333,868 (GRCm39)	I3027V		Het
Sik2	A	T	9: 50,810,026 (GRCm39)	S512R	probably damaging	Het
Snx17	A	G	5: 31,353,887 (GRCm39)	Y225C	probably damaging	Het
Spata13	A	T	14: 60,987,524 (GRCm39)	D894V	probably damaging	Het
Spx	A	G	6: 142,360,543 (GRCm39)	D65G	probably damaging	Het
Syne1	G	T	10: 5,299,020 (GRCm39)	S1022*	probably null	Het
Tchh	C	T	3: 93,354,957 (GRCm39)	Q1466*	probably null	Het
Tmem120b	T	C	5: 123,254,302 (GRCm39)	L292P	probably damaging	Het
Vmn2r10	T	C	5: 109,143,677 (GRCm39)	T758A	probably benign	Het
Vmn2r45	C	T	7: 8,488,619 (GRCm39)	C137Y	probably damaging	Het
Zfp994	A	G	17: 22,424,306 (GRCm39)	S4P	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
R7622:Rnf13	UTSW	3	57,727,955 (GRCm39)	nonsense	probably null
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
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'- TGTCTTAGAAAATGAGTGTGCAGAG -3'
(R):5'- AGAAAAGGGTTCTCAGCTGG -3'

Sequencing Primer
(F):5'- GCAGAGTATATTTGAGTTTAATGGCC -3'
(R):5'- TTCTCAGCTGGGAAAGGCC -3'

Posted On

2021-08-02