Mutagenetix > Incidental Mutation

Incidental Mutation 'R9086:Rnf13'

690585

Institutional Source

Beutler Lab

Gene Symbol

Rnf13

Ensembl Gene

ENSMUSG00000036503

Gene Name

ring finger protein 13

Synonyms

2010001H16Rik, Rzf

MMRRC Submission

068905-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9086 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57643483-57742654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 57740997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 291 (D291A)

Ref Sequence

ENSEMBL: ENSMUSP00000049331 (fasta)

Gene Model

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

AlphaFold

O54965

Predicted Effect

probably benign
Transcript: ENSMUST00000041826
AA Change: D291A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049331
Gene: ENSMUSG00000036503
AA Change: D291A

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 benign
Transcript: ENSMUST00000199041

SMART Domains

Protein: ENSMUSP00000142335
Gene: ENSMUSG00000036503

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: D262A

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

SMART Domains

Protein: ENSMUSP00000142462
Gene: ENSMUSG00000036503
AA Change: D262A

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: 99.6%
20x: 98.7%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 109,992,879 (GRCm39)	E1595G	probably damaging	Het
Ank1	T	C	8: 23,589,636 (GRCm39)	V608A	probably damaging	Het
Arl14epl	T	C	18: 47,065,661 (GRCm39)	V142A	possibly damaging	Het
Atp8a1	T	C	5: 67,932,159 (GRCm39)	D210G		Het
Baz1b	T	C	5: 135,260,538 (GRCm39)	F1112L	probably damaging	Het
Cage1	T	A	13: 38,206,898 (GRCm39)	I316F	probably damaging	Het
Car2	A	C	3: 14,952,968 (GRCm39)	T37P	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cntnap3	T	A	13: 64,929,573 (GRCm39)	D542V	probably damaging	Het
Coro1b	T	C	19: 4,202,525 (GRCm39)	Y338H	probably damaging	Het
Ctdspl2	G	A	2: 121,838,298 (GRCm39)		probably null	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dpm2	T	C	2: 32,462,391 (GRCm39)	L59P	probably damaging	Het
Duoxa2	A	G	2: 122,131,821 (GRCm39)	Y170C	probably damaging	Het
Dus2	T	A	8: 106,742,573 (GRCm39)	Y34*	probably null	Het
Dzip3	A	G	16: 48,781,493 (GRCm39)	I266T	possibly damaging	Het
Ebf3	T	C	7: 136,800,994 (GRCm39)	T455A	possibly damaging	Het
Echdc2	C	T	4: 108,027,076 (GRCm39)	Q74*	probably null	Het
Efhc1	T	C	1: 21,025,592 (GRCm39)	Y33H	probably damaging	Het
Fam20a	A	T	11: 109,566,754 (GRCm39)	C378*	probably null	Het
Fbxo25	C	A	8: 13,989,621 (GRCm39)	P356Q	probably damaging	Het
Fig4	G	T	10: 41,161,399 (GRCm39)	T59K	possibly damaging	Het
Gbp10	T	A	5: 105,366,369 (GRCm39)	M512L	probably benign	Het
Gdf10	T	A	14: 33,654,221 (GRCm39)	Y243N	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
H1f9	A	T	11: 94,859,083 (GRCm39)	K126M	possibly damaging	Het
Ints1	A	T	5: 139,743,947 (GRCm39)	H1540Q	probably benign	Het
Lipo3	A	T	19: 33,534,529 (GRCm39)	L310Q	probably benign	Het
Lrrk2	A	G	15: 91,640,051 (GRCm39)	K1532R	probably benign	Het
Ltc4s	T	C	11: 50,128,074 (GRCm39)	Y59C	probably damaging	Het
Macf1	T	A	4: 123,377,944 (GRCm39)	H1427L	probably damaging	Het
Mroh2b	A	G	15: 4,982,754 (GRCm39)		probably null	Het
Mthfd1l	A	T	10: 3,923,412 (GRCm39)	D53V	probably benign	Het
Muc4	C	A	16: 32,577,842 (GRCm39)	P303Q		Het
Nrxn1	A	G	17: 90,469,792 (GRCm39)	F1293S	probably damaging	Het
Nrxn2	G	A	19: 6,540,108 (GRCm39)	E803K	probably damaging	Het
Nup155	A	G	15: 8,177,830 (GRCm39)	D1071G	possibly damaging	Het
Or1l4b	T	A	2: 37,036,426 (GRCm39)	D67E	probably damaging	Het
Or2ag18	A	T	7: 106,405,126 (GRCm39)	I181N	probably benign	Het
Or2ak6	T	A	11: 58,592,955 (GRCm39)	S143T	possibly damaging	Het
Papln	A	G	12: 83,821,633 (GRCm39)	E287G	probably damaging	Het
Pex13	C	A	11: 23,615,760 (GRCm39)	G29C	probably damaging	Het
Phrf1	C	A	7: 140,839,412 (GRCm39)	T869K	unknown	Het
Pitrm1	A	G	13: 6,627,517 (GRCm39)	T912A	probably benign	Het
Pla2g4c	A	G	7: 13,071,692 (GRCm39)	K171E	probably benign	Het
Pnpla7	A	T	2: 24,929,709 (GRCm39)	T833S	probably damaging	Het
Por	G	T	5: 135,744,918 (GRCm39)		probably null	Het
Rab3ip	G	A	10: 116,775,310 (GRCm39)	S16L	probably damaging	Het
Rabgef1	A	T	5: 130,240,792 (GRCm39)	I304F	probably benign	Het
Rbbp8	T	C	18: 11,875,736 (GRCm39)	V883A	possibly damaging	Het
Rnase4	A	G	14: 51,342,429 (GRCm39)	D51G	possibly damaging	Het
Rps6kb2	A	T	19: 4,209,270 (GRCm39)	I191N	probably damaging	Het
Scn1a	A	G	2: 66,181,358 (GRCm39)	L55S	probably benign	Het
Son	T	A	16: 91,467,418 (GRCm39)	F2260I	unknown	Het
Spata31h1	C	T	10: 82,124,577 (GRCm39)	S2811N	probably benign	Het
Ssr1	A	G	13: 38,167,449 (GRCm39)	I238T	probably benign	Het
Stk11ip	A	G	1: 75,506,818 (GRCm39)	E633G	possibly damaging	Het
Svs3a	A	G	2: 164,132,062 (GRCm39)	Y211C	probably benign	Het
Sytl1	T	A	4: 132,988,175 (GRCm39)	E60D	possibly damaging	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tlr1	T	C	5: 65,083,198 (GRCm39)	I460V	probably damaging	Het
Tmem64	T	C	4: 15,266,718 (GRCm39)	I256T	probably damaging	Het
Ttll5	G	A	12: 85,964,516 (GRCm39)	A553T	possibly damaging	Het
Ttll5	A	T	12: 86,071,107 (GRCm39)	T1327S	probably benign	Het
Upp2	T	A	2: 58,680,177 (GRCm39)	C334*	probably null	Het
Wdr74	C	A	19: 8,713,358 (GRCm39)	N24K	possibly damaging	Het
Zbtb42	G	A	12: 112,645,848 (GRCm39)	V8I	probably benign	Het
Zfp541	T	A	7: 15,824,329 (GRCm39)	L1078Q	probably damaging	Het
Zfr2	T	C	10: 81,076,029 (GRCm39)	V212A	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
R8893:Rnf13	UTSW	3	57,714,520 (GRCm39)	missense	probably damaging	0.97
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'- TCTTCATGAAGAGCATCTTATGCCC -3'
(R):5'- AACACTGTGGTCGGTAATTTCG -3'

Sequencing Primer
(F):5'- CCCTGCTGTATTTGAAAGTAAGTGC -3'
(R):5'- CGGTAATTTCGTTGTCTGCGTCAC -3'

Posted On

2021-12-30