Mutagenetix > Incidental Mutation

Incidental Mutation 'R1523:Rnf40'

167633

Institutional Source

Beutler Lab

Gene Symbol

Rnf40

Ensembl Gene

ENSMUSG00000030816

Gene Name

ring finger protein 40

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R1523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127187870-127202777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127189787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 184 (R184L)

Ref Sequence

ENSEMBL: ENSMUSP00000146004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033088] [ENSMUST00000072155] [ENSMUST00000205694] [ENSMUST00000206914]

AlphaFold

Q3U319

Predicted Effect

probably damaging
Transcript: ENSMUST00000033088
AA Change: R184L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816
AA Change: R184L

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

probably benign
Transcript: ENSMUST00000072155

SMART Domains

Protein: ENSMUSP00000072019
Gene: ENSMUSG00000057176

Domain	Start	End	E-Value	Type
Pfam:CLAMP	130	228	3.1e-37	PFAM
low complexity region	243	274	N/A	INTRINSIC
coiled coil region	285	319	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205694
AA Change: R184L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000205839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206220

Predicted Effect

probably damaging
Transcript: ENSMUST00000206914
AA Change: R184L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206891

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,331,232 (GRCm39)	E48*	probably null	Het
4930503B20Rik	A	G	3: 146,356,864 (GRCm39)	S15P	probably damaging	Het
5530400C23Rik	A	G	6: 133,271,256 (GRCm39)	E100G	possibly damaging	Het
Abcg2	T	C	6: 58,662,679 (GRCm39)	F507S	possibly damaging	Het
Adgrf5	A	T	17: 43,761,044 (GRCm39)	Q913L	probably benign	Het
Ak7	A	T	12: 105,732,867 (GRCm39)	N537I	probably benign	Het
Anks1	T	A	17: 28,270,629 (GRCm39)		probably null	Het
Arhgap32	T	A	9: 32,168,048 (GRCm39)	V677D	probably damaging	Het
Ark2c	G	A	18: 77,550,634 (GRCm39)	T98I	probably benign	Het
Arnt	C	T	3: 95,396,965 (GRCm39)	P466L	possibly damaging	Het
Arrb1	T	G	7: 99,243,872 (GRCm39)	L274R	probably damaging	Het
Atf2	A	T	2: 73,693,552 (GRCm39)	D3E	probably damaging	Het
Baz2b	C	T	2: 59,798,981 (GRCm39)	R381Q	possibly damaging	Het
Cacna1g	C	T	11: 94,333,555 (GRCm39)		probably null	Het
Ccr10	C	T	11: 101,064,501 (GRCm39)	R343Q	probably damaging	Het
Clca3a2	G	T	3: 144,777,405 (GRCm39)	S822*	probably null	Het
Col12a1	A	T	9: 79,568,278 (GRCm39)	Y1649N	probably benign	Het
Col23a1	G	A	11: 51,452,743 (GRCm39)		probably null	Het
Cp	T	C	3: 20,043,229 (GRCm39)	Y1006H	probably benign	Het
Ctbs	A	G	3: 146,160,735 (GRCm39)	T101A	probably benign	Het
Cyp4a31	T	C	4: 115,426,951 (GRCm39)	F170L	probably benign	Het
Dock1	A	C	7: 134,345,976 (GRCm39)	I173L	possibly damaging	Het
Dock4	A	G	12: 40,743,024 (GRCm39)	D393G	possibly damaging	Het
Dsg1a	T	A	18: 20,455,374 (GRCm39)	S113T	probably damaging	Het
Epha3	T	C	16: 63,431,311 (GRCm39)	D530G	probably damaging	Het
Erbb4	T	A	1: 68,435,411 (GRCm39)	H162L	possibly damaging	Het
Fam131c	C	T	4: 141,110,142 (GRCm39)	T180I	probably benign	Het
Fndc1	A	G	17: 7,992,041 (GRCm39)	S552P	unknown	Het
Foxf1	A	G	8: 121,811,297 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,828 (GRCm39)	T560A	possibly damaging	Het
Gabra4	G	A	5: 71,790,975 (GRCm39)	T289M	probably damaging	Het
Gcnt1	A	G	19: 17,307,197 (GRCm39)	V176A	probably damaging	Het
Gemin8	G	A	X: 164,963,644 (GRCm39)	S100N	probably benign	Het
Gm1527	T	C	3: 28,974,567 (GRCm39)	I460T	probably damaging	Het
Gm6729	A	G	10: 86,376,039 (GRCm39)		noncoding transcript	Het
Gprin2	T	C	14: 33,917,036 (GRCm39)	S245G	probably benign	Het
Gsdmc	A	T	15: 63,675,479 (GRCm39)	I112N	probably damaging	Het
Hspb6	A	G	7: 30,252,848 (GRCm39)	D30G	probably benign	Het
Hydin	A	G	8: 111,259,903 (GRCm39)	D2625G	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Irf2	T	A	8: 47,290,875 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,926,226 (GRCm39)		probably null	Het
Khdc3	G	A	9: 73,010,773 (GRCm39)	E208K	possibly damaging	Het
Kifc1	A	T	17: 34,102,636 (GRCm39)	S263T	probably benign	Het
Lrig3	C	A	10: 125,844,567 (GRCm39)	T677K	probably damaging	Het
Magec2	T	A	X: 61,334,512 (GRCm39)	D177E	probably benign	Het
Mapkapk3	A	T	9: 107,140,822 (GRCm39)		probably null	Het
Mertk	T	C	2: 128,632,248 (GRCm39)		probably null	Het
Metrn	A	G	17: 26,013,951 (GRCm39)	*292R	probably null	Het
Mllt6	G	T	11: 97,555,849 (GRCm39)	A60S	probably damaging	Het
Mmp21	T	C	7: 133,280,774 (GRCm39)	I65M	probably benign	Het
Myo7b	A	G	18: 32,099,929 (GRCm39)	L1651P	probably damaging	Het
Nhsl1	A	G	10: 18,284,103 (GRCm39)	S15G	probably benign	Het
Nos1ap	T	C	1: 170,165,687 (GRCm39)	D192G	probably benign	Het
Nrcam	A	G	12: 44,619,032 (GRCm39)	T844A	probably damaging	Het
Pax4	A	G	6: 28,444,840 (GRCm39)	L203P	probably damaging	Het
Pbld2	T	C	10: 62,912,212 (GRCm39)	I280T	probably benign	Het
Pclo	A	G	5: 14,838,420 (GRCm39)	Y4681C	unknown	Het
Phyhip	T	A	14: 70,699,200 (GRCm39)	M1K	probably null	Het
Plppr4	T	C	3: 117,116,490 (GRCm39)	N456D	probably damaging	Het
Prpf31	T	C	7: 3,643,856 (GRCm39)	Y473H	probably damaging	Het
Rapgef2	A	T	3: 79,000,056 (GRCm39)	V564D	probably damaging	Het
Rexo1	T	C	10: 80,378,585 (GRCm39)	S1123G	probably benign	Het
Rnasel	C	A	1: 153,631,759 (GRCm39)	Q513K	probably damaging	Het
Rnf213	T	C	11: 119,332,714 (GRCm39)	V2641A	probably damaging	Het
Rnf8	A	G	17: 29,845,946 (GRCm39)	K179R	probably damaging	Het
Sipa1l2	C	T	8: 126,174,352 (GRCm39)	D1309N	possibly damaging	Het
Slc25a38	T	A	9: 119,952,769 (GRCm39)	M307K	possibly damaging	Het
Snx33	T	C	9: 56,833,466 (GRCm39)	D201G	possibly damaging	Het
Sulf1	T	A	1: 12,887,574 (GRCm39)	Y249*	probably null	Het
Sult2a4	G	A	7: 13,643,785 (GRCm39)	Q261*	probably null	Het
Syndig1	G	A	2: 149,845,154 (GRCm39)	A226T	probably damaging	Het
Tcaf2	C	T	6: 42,601,385 (GRCm39)	W891*	probably null	Het
Tcf15	C	A	2: 151,985,808 (GRCm39)	T88K	probably damaging	Het
Tmem19	A	T	10: 115,183,122 (GRCm39)	M117K	probably damaging	Het
Trim32	T	C	4: 65,532,241 (GRCm39)	L266P	probably benign	Het
Vmn2r11	T	C	5: 109,201,707 (GRCm39)	I266V	probably benign	Het
Vmn2r73	A	T	7: 85,519,486 (GRCm39)	Y491N	probably benign	Het
Wrn	C	T	8: 33,782,744 (GRCm39)	E486K	probably benign	Het
Zfp457	T	C	13: 67,441,501 (GRCm39)	E262G	probably damaging	Het
Zfp598	A	G	17: 24,897,603 (GRCm39)	D308G	probably null	Het
Zup1	T	C	10: 33,803,436 (GRCm39)	I549M	probably damaging	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
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
R6969:Rnf40	UTSW	7	127,195,495 (GRCm39)	missense	possibly damaging	0.89
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'- GGAATACCAAGCAGCTTATTCTGGGAC -3'
(R):5'- AGTGGGACAATAGCTACCCCTGAG -3'

Sequencing Primer
(F):5'- CAGCTTATTCTGGGACTTGGTAG -3'
(R):5'- AATAGCTACCCCTGAGGTTGG -3'

Posted On

2014-04-13