Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Rnf40'

543382

Institutional Source

Beutler Lab

Gene Symbol

Rnf40

Ensembl Gene

ENSMUSG00000030816

Gene Name

ring finger protein 40

Synonyms

MMRRC Submission

045079-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127187870-127202777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127195495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 607 (E607G)

Ref Sequence

ENSEMBL: ENSMUSP00000146310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033088] [ENSMUST00000205694] [ENSMUST00000206914]

AlphaFold

Q3U319

Predicted Effect

probably benign
Transcript: ENSMUST00000033088
AA Change: E567G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816
AA Change: E567G

Domain	Start	End	E-Value	Type
coiled coil region	55	86	N/A	INTRINSIC
coiled coil region	189	209	N/A	INTRINSIC
coiled coil region	231	377	N/A	INTRINSIC
coiled coil region	437	525	N/A	INTRINSIC
low complexity region	565	576	N/A	INTRINSIC
coiled coil region	629	760	N/A	INTRINSIC
coiled coil region	800	839	N/A	INTRINSIC
RING	948	986	1.86e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205694
AA Change: E607G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206914
AA Change: E507G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,958,317 (GRCm39)	L800H	unknown	Het
Ap2b1	T	A	11: 83,280,552 (GRCm39)	D788E	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arhgap9	G	A	10: 127,162,512 (GRCm39)	E348K	probably benign	Het
B4galnt2	A	T	11: 95,782,756 (GRCm39)	F19I	probably benign	Het
Bdp1	A	T	13: 100,211,039 (GRCm39)	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,586,230 (GRCm39)	*427Q	probably null	Het
Chd9	A	C	8: 91,705,542 (GRCm39)	Q260P	probably benign	Het
Col16a1	A	T	4: 129,986,880 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 17,266,805 (GRCm39)	N40K	possibly damaging	Het
Depdc5	T	G	5: 33,141,204 (GRCm39)	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,397,398 (GRCm39)	P3943Q	probably damaging	Het
Dnttip2	A	G	3: 122,076,141 (GRCm39)	Q691R	probably damaging	Het
Dusp10	T	C	1: 183,801,085 (GRCm39)	L284P	probably damaging	Het
Efr3b	A	G	12: 4,018,624 (GRCm39)	V574A	probably benign	Het
Erc2	A	T	14: 27,620,553 (GRCm39)	I60F	probably damaging	Het
Exoc2	A	G	13: 31,095,161 (GRCm39)	V245A	probably benign	Het
Fasl	G	T	1: 161,609,244 (GRCm39)	F37L	probably damaging	Het
Fat3	G	A	9: 15,941,212 (GRCm39)	P1360S	probably benign	Het
Gpsm1	C	T	2: 26,230,555 (GRCm39)	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,605,331 (GRCm39)	G124V	probably damaging	Het
Insm2	T	C	12: 55,646,963 (GRCm39)	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,929,468 (GRCm39)	Y402H	possibly damaging	Het
Irx6	A	G	8: 93,403,958 (GRCm39)	E175G	probably damaging	Het
Kcnh8	C	T	17: 53,184,971 (GRCm39)	R418*	probably null	Het
Kif3c	G	A	12: 3,416,114 (GRCm39)	R45Q	probably benign	Het
Larp7-ps	A	G	4: 92,079,826 (GRCm39)	I54T	probably damaging	Het
Lpin1	A	G	12: 16,630,862 (GRCm39)	F12S	probably damaging	Het
Lrba	A	T	3: 86,526,897 (GRCm39)	T156S	probably benign	Het
Lrrc19	G	T	4: 94,527,610 (GRCm39)	N200K	probably benign	Het
Lrrc7	G	A	3: 157,862,550 (GRCm39)	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,212,578 (GRCm39)	F661Y	probably damaging	Het
Macf1	T	C	4: 123,351,593 (GRCm39)	Y1893C	probably benign	Het
Mmd	G	C	11: 90,148,362 (GRCm39)	A15P	probably damaging	Het
Myh2	T	C	11: 67,088,092 (GRCm39)	F1903L	probably benign	Het
Myom3	T	C	4: 135,528,371 (GRCm39)	L1072P	probably damaging	Het
Or13l2	A	T	3: 97,318,118 (GRCm39)	Y126*	probably null	Het
Or56a41	T	C	7: 104,740,463 (GRCm39)	I128V	probably benign	Het
Or5bw2	G	A	7: 6,573,320 (GRCm39)	C110Y	probably damaging	Het
Or7g35	A	T	9: 19,495,886 (GRCm39)	T18S	possibly damaging	Het
Patl2	A	T	2: 121,959,410 (GRCm39)	V18D	possibly damaging	Het
Pkn1	T	C	8: 84,410,055 (GRCm39)	S395G	probably damaging	Het
Ptprm	A	G	17: 67,219,413 (GRCm39)	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 184,968,209 (GRCm39)	L187P	probably damaging	Het
Ric1	A	T	19: 29,563,182 (GRCm39)	E535V	probably damaging	Het
Ripor3	T	C	2: 167,827,657 (GRCm39)	K598R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,452,616 (GRCm39)	T544A	probably benign	Het
Scaf1	C	A	7: 44,657,253 (GRCm39)		probably benign	Het
Sec24a	T	C	11: 51,591,643 (GRCm39)	M1018V	probably benign	Het
Shmt1	C	T	11: 60,695,153 (GRCm39)	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,546,275 (GRCm39)	V383F	probably damaging	Het
Slc5a2	A	G	7: 127,871,249 (GRCm39)	T346A	probably benign	Het
Slco4a1	G	A	2: 180,106,601 (GRCm39)	S261N	probably benign	Het
Smarcc1	C	G	9: 110,025,388 (GRCm39)	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,700,959 (GRCm39)	A314T	probably damaging	Het
Sptb	A	T	12: 76,654,781 (GRCm39)	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462 (GRCm39)	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,968,171 (GRCm39)	Y424C	probably damaging	Het
Tgm3	A	G	2: 129,883,949 (GRCm39)	K536E	probably benign	Het
Tti2	A	G	8: 31,644,329 (GRCm39)	I309V	possibly damaging	Het
Tymp	G	A	15: 89,258,251 (GRCm39)	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538 (GRCm39)	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,060,507 (GRCm39)		probably benign	Het
Zfp59	T	C	7: 27,552,922 (GRCm39)	S125P	probably damaging	Het
Zfp641	A	T	15: 98,188,448 (GRCm39)	M144K	possibly damaging	Het
Zfp93	A	T	7: 23,974,806 (GRCm39)	K264*	probably null	Het

Other mutations in Rnf40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02155:Rnf40	APN	7	127,189,888 (GRCm39)	splice site	probably benign
IGL02331:Rnf40	APN	7	127,188,999 (GRCm39)	missense	probably benign
IGL02626:Rnf40	APN	7	127,195,744 (GRCm39)	missense	probably damaging	1.00
IGL02867:Rnf40	APN	7	127,190,601 (GRCm39)	nonsense	probably null
IGL02889:Rnf40	APN	7	127,190,601 (GRCm39)	nonsense	probably null
IGL03353:Rnf40	APN	7	127,192,063 (GRCm39)	nonsense	probably null
R0103:Rnf40	UTSW	7	127,199,743 (GRCm39)	missense	probably damaging	1.00
R0103:Rnf40	UTSW	7	127,199,743 (GRCm39)	missense	probably damaging	1.00
R0133:Rnf40	UTSW	7	127,196,032 (GRCm39)	splice site	probably null
R0554:Rnf40	UTSW	7	127,201,756 (GRCm39)	missense	probably damaging	1.00
R0563:Rnf40	UTSW	7	127,192,048 (GRCm39)	missense	probably damaging	1.00
R1523:Rnf40	UTSW	7	127,189,787 (GRCm39)	missense	probably damaging	0.99
R1551:Rnf40	UTSW	7	127,195,506 (GRCm39)	missense	possibly damaging	0.88
R1804:Rnf40	UTSW	7	127,195,120 (GRCm39)	missense	possibly damaging	0.59
R1929:Rnf40	UTSW	7	127,190,956 (GRCm39)	missense	probably damaging	0.99
R2194:Rnf40	UTSW	7	127,196,407 (GRCm39)	missense	probably damaging	1.00
R2356:Rnf40	UTSW	7	127,190,748 (GRCm39)	missense	probably damaging	0.99
R4839:Rnf40	UTSW	7	127,191,812 (GRCm39)	nonsense	probably null
R5071:Rnf40	UTSW	7	127,196,458 (GRCm39)	missense	probably damaging	1.00
R5074:Rnf40	UTSW	7	127,196,458 (GRCm39)	missense	probably damaging	1.00
R5292:Rnf40	UTSW	7	127,195,120 (GRCm39)	missense	possibly damaging	0.59
R5537:Rnf40	UTSW	7	127,195,261 (GRCm39)	missense	probably benign	0.05
R5547:Rnf40	UTSW	7	127,188,302 (GRCm39)	critical splice donor site	probably null
R5871:Rnf40	UTSW	7	127,190,757 (GRCm39)	missense	probably damaging	0.97
R6767:Rnf40	UTSW	7	127,195,757 (GRCm39)	missense	possibly damaging	0.88
R6834:Rnf40	UTSW	7	127,195,578 (GRCm39)	missense	probably benign	0.18
R6980:Rnf40	UTSW	7	127,193,849 (GRCm39)	missense	probably damaging	1.00
R7626:Rnf40	UTSW	7	127,189,047 (GRCm39)	missense	probably benign
R8177:Rnf40	UTSW	7	127,195,322 (GRCm39)	missense	probably benign
R8719:Rnf40	UTSW	7	127,191,834 (GRCm39)	missense	probably damaging	1.00
R8798:Rnf40	UTSW	7	127,188,954 (GRCm39)	missense	probably damaging	1.00
R8817:Rnf40	UTSW	7	127,196,332 (GRCm39)	missense	probably damaging	1.00
R9160:Rnf40	UTSW	7	127,190,993 (GRCm39)	missense	probably damaging	1.00
R9299:Rnf40	UTSW	7	127,188,172 (GRCm39)	missense	probably benign	0.01
R9337:Rnf40	UTSW	7	127,188,172 (GRCm39)	missense	probably benign	0.01
R9462:Rnf40	UTSW	7	127,191,010 (GRCm39)	critical splice donor site	probably null
R9464:Rnf40	UTSW	7	127,190,954 (GRCm39)	missense	probably benign	0.06
R9469:Rnf40	UTSW	7	127,195,769 (GRCm39)	missense	probably damaging	1.00
R9476:Rnf40	UTSW	7	127,201,808 (GRCm39)	missense	probably damaging	1.00
R9510:Rnf40	UTSW	7	127,201,808 (GRCm39)	missense	probably damaging	1.00
X0026:Rnf40	UTSW	7	127,193,867 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGACCCTGGCCTCAATG -3'
(R):5'- ACCTGACAGGGCTATGAGATAGTAG -3'

Sequencing Primer
(F):5'- CTTGCCCCAGGGAAGGAAG -3'
(R):5'- ATAGTAGTAGGGCCTCACTTGAGC -3'

Posted On

2018-11-28