Mutagenetix > Incidental Mutation

Incidental Mutation 'R0103:Rnf40'

34475

Institutional Source

Beutler Lab

Gene Symbol

Rnf40

Ensembl Gene

ENSMUSG00000030816

Gene Name

ring finger protein 40

Synonyms

MMRRC Submission

038389-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R0103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127187870-127202777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127199743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 925 (V925G)

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: V885G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816
AA Change: V885G

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

noncoding transcript
Transcript: ENSMUST00000191038

Predicted Effect

probably damaging
Transcript: ENSMUST00000205694
AA Change: V925G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206724

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206914
AA Change: V825G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1862

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,223,951 (GRCm39)	R443S	probably damaging	Het
Anapc1	T	C	2: 128,522,372 (GRCm39)		probably benign	Het
Aqr	T	A	2: 113,979,497 (GRCm39)	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,206,922 (GRCm39)		probably benign	Het
Asah2	G	T	19: 31,996,377 (GRCm39)	H374N	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Ccdc106	C	A	7: 5,060,544 (GRCm39)	Q35K	probably benign	Het
Ccm2l	G	T	2: 152,909,839 (GRCm39)	E64*	probably null	Het
Cep85l	A	T	10: 53,154,270 (GRCm39)	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,815,951 (GRCm39)	I611F	possibly damaging	Het
Cldn22	C	T	8: 48,277,589 (GRCm39)	T9M	probably benign	Het
Coa7	T	C	4: 108,195,338 (GRCm39)	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,821,701 (GRCm39)	Y2N	probably damaging	Het
Ctns	A	C	11: 73,076,137 (GRCm39)	I299M	probably damaging	Het
Cyp27a1	A	C	1: 74,775,074 (GRCm39)	E301A	probably benign	Het
Cyp2b13	A	T	7: 25,788,135 (GRCm39)	K421M	probably damaging	Het
Cyp4f40	G	T	17: 32,895,282 (GRCm39)	C468F	probably damaging	Het
Cyp4f40	C	A	17: 32,895,283 (GRCm39)	C468*	probably null	Het
Dcun1d5	G	A	9: 7,188,788 (GRCm39)	C74Y	probably damaging	Het
Dennd4c	A	G	4: 86,730,683 (GRCm39)	Y860C	probably benign	Het
Dgkz	T	C	2: 91,764,550 (GRCm39)	T1028A	probably benign	Het
Dhx58	T	C	11: 100,586,096 (GRCm39)	T642A	probably damaging	Het
Dlg4	A	G	11: 69,922,019 (GRCm39)	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,069,155 (GRCm39)	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,443,717 (GRCm39)	E9*	probably null	Het
Fbln2	A	C	6: 91,248,532 (GRCm39)	I1066L	probably benign	Het
Fhl2	C	T	1: 43,192,381 (GRCm39)	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884 (GRCm39)	I17K	probably damaging	Het
Galnt2l	A	G	8: 122,996,472 (GRCm39)		probably benign	Het
Gbp7	T	A	3: 142,252,299 (GRCm39)	N627K	probably benign	Het
Gnptab	A	G	10: 88,265,381 (GRCm39)	Y331C	probably damaging	Het
Hdac4	T	C	1: 91,903,366 (GRCm39)	E521G	possibly damaging	Het
Hibadh	T	A	6: 52,534,862 (GRCm39)	M173L	probably benign	Het
Iba57	C	T	11: 59,054,439 (GRCm39)	A27T	probably benign	Het
Itga1	T	C	13: 115,152,790 (GRCm39)	I211V	probably benign	Het
Keg1	A	T	19: 12,696,280 (GRCm39)	I155F	possibly damaging	Het
Krt84	T	C	15: 101,438,671 (GRCm39)	E272G	probably damaging	Het
Lrp2	C	A	2: 69,307,384 (GRCm39)	V2892L	probably benign	Het
Ltb	A	G	17: 35,414,016 (GRCm39)		probably benign	Het
Masp1	G	A	16: 23,276,768 (GRCm39)	P579L	probably damaging	Het
Mtor	T	A	4: 148,618,359 (GRCm39)	M1724K	probably benign	Het
Myo3a	T	G	2: 22,436,360 (GRCm39)		probably benign	Het
Myo9b	C	T	8: 71,776,493 (GRCm39)		probably benign	Het
Ncor1	G	T	11: 62,233,871 (GRCm39)	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,471,980 (GRCm39)	C53*	probably null	Het
Obscn	G	T	11: 58,953,522 (GRCm39)	Y4044*	probably null	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pcdh15	A	T	10: 74,046,257 (GRCm39)	D178V	probably damaging	Het
Pcsk6	T	C	7: 65,578,845 (GRCm39)		probably benign	Het
Phxr4	T	C	9: 13,343,087 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,593,583 (GRCm39)	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,460,537 (GRCm39)	C4249R	probably benign	Het
Plxnb2	A	G	15: 89,045,972 (GRCm39)	Y968H	possibly damaging	Het
Prpf39	T	C	12: 65,102,057 (GRCm39)	V378A	possibly damaging	Het
Psd2	A	G	18: 36,137,770 (GRCm39)	N455S	probably damaging	Het
Ptch2	C	A	4: 116,966,622 (GRCm39)		probably benign	Het
Rab4b	A	G	7: 26,873,927 (GRCm39)	I117T	probably benign	Het
Rad9b	A	T	5: 122,469,590 (GRCm39)	V348E	probably damaging	Het
Rcor1	T	C	12: 111,076,212 (GRCm39)		probably benign	Het
Rhoc	A	T	3: 104,699,307 (GRCm39)	E32V	possibly damaging	Het
Rptor	G	T	11: 119,775,793 (GRCm39)	R988L	probably benign	Het
Slc25a32	A	T	15: 38,963,292 (GRCm39)	Y176*	probably null	Het
Slc7a1	T	A	5: 148,289,236 (GRCm39)	K4*	probably null	Het
Ss18	A	C	18: 14,812,478 (GRCm39)	Y38D	probably damaging	Het
Syt4	T	A	18: 31,580,273 (GRCm39)		probably benign	Het
Taar4	A	T	10: 23,837,304 (GRCm39)	N305Y	probably damaging	Het
Taar7b	A	T	10: 23,876,192 (GRCm39)	Y119F	probably benign	Het
Tcaf1	G	T	6: 42,663,324 (GRCm39)	D185E	probably benign	Het
Tmem138	T	C	19: 10,552,316 (GRCm39)	N62S	possibly damaging	Het
Tnfaip2	C	T	12: 111,412,244 (GRCm39)	T215M	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnfrsf25	C	T	4: 152,201,405 (GRCm39)	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,067,240 (GRCm39)	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,184,805 (GRCm39)	F597S	probably damaging	Het
Tsc22d4	A	C	5: 137,745,378 (GRCm39)	M1L	possibly damaging	Het
Ttc39a	A	G	4: 109,278,650 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,591,570 (GRCm39)	H21033P	probably damaging	Het
Ugt2a3	A	G	5: 87,484,577 (GRCm39)	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,051,267 (GRCm39)	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,417,108 (GRCm39)	C114R	possibly damaging	Het
Wdr33	T	C	18: 31,966,388 (GRCm39)	V135A	probably damaging	Het
Zc3h13	T	A	14: 75,567,908 (GRCm39)	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,808,375 (GRCm39)	W274*	probably null	Het
Zfp219	T	A	14: 52,244,163 (GRCm39)	H627L	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
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
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'- AGCGAGCACCATCATGCAGTAAG -3'
(R):5'- AGGTGTAATCTCTCCTCTGCCACG -3'

Sequencing Primer
(F):5'- ATGTGCAGACTCGACTTCG -3'
(R):5'- GTGGCTTACATACAACGCACG -3'

Posted On

2013-05-09