Mutagenetix > Incidental Mutation

Incidental Mutation 'R7888:Rnf39'

609182

Institutional Source

Beutler Lab

Gene Symbol

Rnf39

Ensembl Gene

ENSMUSG00000036492

Gene Name

ring finger protein 39

Synonyms

LIRF, LOC386454, LOC386465, LOC240094

MMRRC Submission

045940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7888 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37253943-37258878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37258133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 222 (T222S)

Ref Sequence

ENSEMBL: ENSMUSP00000037860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040402] [ENSMUST00000040498] [ENSMUST00000173072] [ENSMUST00000173540] [ENSMUST00000174669] [ENSMUST00000174711]

AlphaFold

A2RT81

Predicted Effect

probably benign
Transcript: ENSMUST00000040402

SMART Domains

Protein: ENSMUSP00000047202
Gene: ENSMUSG00000036398

Domain	Start	End	E-Value	Type
Pfam:PPI_Ypi1	22	87	8.7e-26	PFAM
low complexity region	105	128	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000040498
AA Change: T222S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037860
Gene: ENSMUSG00000036492
AA Change: T222S

Domain	Start	End	E-Value	Type
RING	20	66	3.47e-4	SMART
low complexity region	99	109	N/A	INTRINSIC
PRY	159	212	6.23e-15	SMART
Blast:SPRY	213	349	1e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173072

SMART Domains

Protein: ENSMUSP00000133710
Gene: ENSMUSG00000036492

Domain	Start	End	E-Value	Type
RING	20	66	3.47e-4	SMART
low complexity region	99	109	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173540

SMART Domains

Protein: ENSMUSP00000134322
Gene: ENSMUSG00000036398

Domain	Start	End	E-Value	Type
Pfam:PPI_Ypi1	5	77	2e-24	PFAM
low complexity region	94	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174669
AA Change: T100S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134113
Gene: ENSMUSG00000036492
AA Change: T100S

Domain	Start	End	E-Value	Type
PRY	37	90	6.23e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174711

SMART Domains

Protein: ENSMUSP00000134685
Gene: ENSMUSG00000036398

Domain	Start	End	E-Value	Type
Pfam:PPI_Ypi1	22	87	8.7e-26	PFAM
low complexity region	105	128	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	G	T	14: 8,246,415 (GRCm38)	Q459K	probably benign	Het
Ano3	T	A	2: 110,496,773 (GRCm39)	Y792F	probably damaging	Het
Aoc3	C	T	11: 101,223,323 (GRCm39)	H520Y	probably damaging	Het
Atp4b	A	G	8: 13,439,811 (GRCm39)	F137S	probably damaging	Het
Blvrb	A	G	7: 27,165,159 (GRCm39)	T160A	probably damaging	Het
Brd2	G	A	17: 34,335,995 (GRCm39)	R73W	probably damaging	Het
Btaf1	A	G	19: 36,943,036 (GRCm39)	T306A	probably benign	Het
Ccdc154	G	A	17: 25,383,578 (GRCm39)	V212M	possibly damaging	Het
Ccdc40	A	G	11: 119,119,967 (GRCm39)	E3G	unknown	Het
Cenpb	T	A	2: 131,021,762 (GRCm39)	E12V	probably damaging	Het
Cnot8	T	C	11: 58,002,137 (GRCm39)	S57P	probably benign	Het
Cryba4	T	C	5: 112,398,918 (GRCm39)	E42G	probably benign	Het
Fam72a	T	A	1: 131,456,578 (GRCm39)	I47N	probably damaging	Het
Gm27027	A	C	2: 93,787,880 (GRCm39)		probably null	Het
Itgb2	T	C	10: 77,400,478 (GRCm39)	V697A	probably benign	Het
Jakmip1	A	G	5: 37,262,208 (GRCm39)	N336D	probably damaging	Het
Kansl1	T	C	11: 104,233,248 (GRCm39)	T760A	probably benign	Het
Lrrc37a	T	A	11: 103,392,307 (GRCm39)	E1039D	probably benign	Het
Meaf6	T	G	4: 125,003,213 (GRCm39)		probably null	Het
Mpz	T	C	1: 170,987,204 (GRCm39)		probably null	Het
Mtss1	A	T	15: 58,844,373 (GRCm39)	M82K	probably damaging	Het
Myo6	T	C	9: 80,203,947 (GRCm39)	S1063P	probably damaging	Het
Niban2	T	A	2: 32,812,137 (GRCm39)	Y406*	probably null	Het
Nsun6	T	A	2: 15,001,355 (GRCm39)	E400D	probably benign	Het
Or10al5	A	T	17: 38,062,888 (GRCm39)	N48Y	probably damaging	Het
Or1e26	T	C	11: 73,480,354 (GRCm39)	D70G	probably damaging	Het
Or1l4b	A	T	2: 37,036,334 (GRCm39)	M37L	probably benign	Het
Or2t26	T	C	11: 49,039,266 (GRCm39)	Y61H	probably damaging	Het
Or52ae7	T	A	7: 103,120,006 (GRCm39)	Y253*	probably null	Het
Or5au1	A	G	14: 52,273,347 (GRCm39)	S74P	probably damaging	Het
Or8j3b	C	A	2: 86,205,270 (GRCm39)	C162F	probably benign	Het
Pfdn5	T	A	15: 102,237,024 (GRCm39)	V92E	probably damaging	Het
Pik3c2g	T	C	6: 139,842,470 (GRCm39)	V801A		Het
Psme2b	T	A	11: 48,836,402 (GRCm39)	T182S	possibly damaging	Het
Ptcd3	G	A	6: 71,860,431 (GRCm39)	A592V	probably damaging	Het
Rabgap1	T	A	2: 37,427,319 (GRCm39)	Y633*	probably null	Het
Scnn1g	A	G	7: 121,342,878 (GRCm39)	N277S	probably damaging	Het
Slc16a13	T	G	11: 70,109,806 (GRCm39)	I232L	possibly damaging	Het
Slco2b1	T	G	7: 99,338,050 (GRCm39)	R111S	unknown	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Tmc3	T	C	7: 83,249,217 (GRCm39)	W269R	probably damaging	Het
Vmn2r4	T	C	3: 64,313,943 (GRCm39)	E346G	probably damaging	Het
Vps52	A	G	17: 34,184,725 (GRCm39)	N666S	probably damaging	Het
Wdfy4	C	T	14: 32,812,920 (GRCm39)	D1618N		Het
Zfp773	C	A	7: 7,135,978 (GRCm39)	C206F	probably benign	Het

Other mutations in Rnf39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01773:Rnf39	APN	17	37,256,328 (GRCm39)	missense	possibly damaging	0.84
IGL02852:Rnf39	APN	17	37,256,094 (GRCm39)	unclassified	probably benign
R3771:Rnf39	UTSW	17	37,258,121 (GRCm39)	missense	probably damaging	1.00
R3967:Rnf39	UTSW	17	37,254,035 (GRCm39)	missense	probably damaging	1.00
R5026:Rnf39	UTSW	17	37,256,426 (GRCm39)	missense	probably benign	0.18
R5294:Rnf39	UTSW	17	37,258,092 (GRCm39)	missense	probably damaging	1.00
R6139:Rnf39	UTSW	17	37,254,230 (GRCm39)	missense	probably damaging	1.00
R6699:Rnf39	UTSW	17	37,258,121 (GRCm39)	missense	probably damaging	1.00
R7396:Rnf39	UTSW	17	37,257,971 (GRCm39)	missense	probably damaging	0.98
R7436:Rnf39	UTSW	17	37,254,241 (GRCm39)	missense	probably benign	0.39
R7536:Rnf39	UTSW	17	37,254,009 (GRCm39)	missense	probably damaging	1.00
R8164:Rnf39	UTSW	17	37,254,292 (GRCm39)	missense	probably damaging	0.98
X0067:Rnf39	UTSW	17	37,254,158 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TCTTCTGCAGCTGACCTGAC -3'
(R):5'- AGTCCAAGTCCACGCGAATG -3'

Sequencing Primer
(F):5'- AGCTGACCTGACGCTCGAC -3'
(R):5'- TGGCACCACCTAGCAGG -3'

Posted On

2019-12-20