Mutagenetix > Incidental Mutation

Incidental Mutation 'R8177:Rnf40'

634419

Institutional Source

Beutler Lab

Gene Symbol

Rnf40

Ensembl Gene

ENSMUSG00000030816

Gene Name

ring finger protein 40

Synonyms

MMRRC Submission

067602-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R8177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127187870-127202777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127195322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 549 (D549E)

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: D509E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816
AA Change: D509E

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: ENSMUST00000205694
AA Change: D549E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206914
AA Change: D449E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,439,174 (GRCm39)	Y127*	probably null	Het
Abcb5	C	T	12: 118,836,525 (GRCm39)	V1129I	possibly damaging	Het
Abcc2	A	G	19: 43,795,519 (GRCm39)	D425G	probably damaging	Het
Adamts15	T	A	9: 30,833,322 (GRCm39)	D71V	probably damaging	Het
Add1	A	G	5: 34,774,049 (GRCm39)	H435R	possibly damaging	Het
Akr1c19	A	G	13: 4,292,591 (GRCm39)	N204S	probably benign	Het
Ankub1	C	A	3: 57,597,837 (GRCm39)	R44S	possibly damaging	Het
Ano3	T	A	2: 110,496,801 (GRCm39)	N783Y	probably damaging	Het
Bbs9	A	G	9: 22,425,359 (GRCm39)	M138V	probably benign	Het
Ccdc18	G	A	5: 108,345,661 (GRCm39)	E936K	possibly damaging	Het
Cit	T	G	5: 116,126,218 (GRCm39)	L1604V	probably benign	Het
Col2a1	T	A	15: 97,874,654 (GRCm39)	S1396C	unknown	Het
Col3a1	G	C	1: 45,374,924 (GRCm39)	G653R	unknown	Het
Col6a1	T	C	10: 76,560,863 (GRCm39)	E45G	probably damaging	Het
Col9a3	T	A	2: 180,249,450 (GRCm39)	F271I	probably damaging	Het
Cyp2g1	C	A	7: 26,518,578 (GRCm39)	D364E	probably damaging	Het
Dmbt1	T	A	7: 130,708,162 (GRCm39)	V1457D	possibly damaging	Het
Dnah17	A	T	11: 118,019,753 (GRCm39)	I98N	possibly damaging	Het
Dyrk1b	T	A	7: 27,882,601 (GRCm39)	M222K	possibly damaging	Het
Epha8	T	C	4: 136,672,974 (GRCm39)	D270G	probably benign	Het
Fbxw17	T	C	13: 50,579,660 (GRCm39)	L159P	probably damaging	Het
Fgl2	G	A	5: 21,578,307 (GRCm39)		probably null	Het
Fmnl1	A	T	11: 103,080,785 (GRCm39)	M309L	probably damaging	Het
Fn1	T	C	1: 71,648,746 (GRCm39)	I1479V	probably benign	Het
Gm11939	A	T	11: 99,450,124 (GRCm39)	S57T	possibly damaging	Het
Gm9195	C	T	14: 72,697,977 (GRCm39)	A1268T	possibly damaging	Het
Gnpda1	A	G	18: 38,466,348 (GRCm39)	W90R	possibly damaging	Het
Igkv5-43	T	A	6: 69,800,445 (GRCm39)	R81W	probably damaging	Het
Mapk3	T	A	7: 126,362,937 (GRCm39)	W230R	probably null	Het
Mplkip	A	G	13: 17,870,205 (GRCm39)	S46G	probably benign	Het
Mrs2	T	C	13: 25,188,961 (GRCm39)	T118A	probably benign	Het
Mst1r	T	A	9: 107,784,784 (GRCm39)	H147Q	probably damaging	Het
Muc5ac	G	C	7: 141,361,068 (GRCm39)	G1460R	probably damaging	Het
Myorg	G	T	4: 41,497,568 (GRCm39)	Y687*	probably null	Het
Naip1	T	C	13: 100,563,911 (GRCm39)	H418R	probably benign	Het
Ncapg	A	G	5: 45,851,095 (GRCm39)	T763A	probably benign	Het
Nr6a1	T	C	2: 38,619,510 (GRCm39)	I462V	probably benign	Het
Nudcd3	T	C	11: 6,143,460 (GRCm39)	D70G	possibly damaging	Het
Nup210	A	G	6: 90,991,470 (GRCm39)	S1858P	probably benign	Het
Or12e13	T	A	2: 87,663,512 (GRCm39)	I43N	probably benign	Het
Or5aq1	C	A	2: 86,966,294 (GRCm39)	V124L	possibly damaging	Het
Or6a2	G	C	7: 106,600,663 (GRCm39)	L135V	probably damaging	Het
Or6c205	A	G	10: 129,086,790 (GRCm39)	H129R	probably benign	Het
Or8k33	T	A	2: 86,383,623 (GRCm39)	I282F	noncoding transcript	Het
Pde4dip	T	C	3: 97,674,848 (GRCm39)	T23A	probably damaging	Het
Pex6	A	G	17: 47,024,988 (GRCm39)	Q347R	probably benign	Het
Rbm27	A	G	18: 42,457,175 (GRCm39)	K694R	probably damaging	Het
Rpl22	A	G	4: 152,411,968 (GRCm39)	K15E	probably damaging	Het
Rsph6a	T	A	7: 18,808,164 (GRCm39)	D697E	unknown	Het
Sec23b	C	T	2: 144,427,543 (GRCm39)	P590L	probably benign	Het
Semp2l1	T	C	1: 32,585,457 (GRCm39)	E151G	probably benign	Het
Slc17a7	T	A	7: 44,824,356 (GRCm39)	M524K	probably benign	Het
Slc28a1	G	A	7: 80,814,164 (GRCm39)	D454N	probably benign	Het
Slc6a13	C	T	6: 121,301,987 (GRCm39)	R190*	probably null	Het
Slc7a9	G	A	7: 35,155,558 (GRCm39)	V257I	probably benign	Het
Slco1a6	T	A	6: 142,047,460 (GRCm39)	M377L	probably damaging	Het
Slit3	A	G	11: 35,469,919 (GRCm39)	E307G	probably damaging	Het
Smchd1	A	G	17: 71,697,448 (GRCm39)	M1164T	probably benign	Het
Stk4	T	C	2: 163,930,777 (GRCm39)	I126T	probably damaging	Het
Syndig1	A	T	2: 149,741,788 (GRCm39)	S125C	probably damaging	Het
Synm	T	C	7: 67,383,813 (GRCm39)	D1283G	probably benign	Het
Tmprss6	T	C	15: 78,349,327 (GRCm39)	M73V	probably benign	Het
Tmprss9	A	G	10: 80,730,882 (GRCm39)	I803V	probably benign	Het
Tmx4	A	T	2: 134,485,822 (GRCm39)	V35E	probably damaging	Het
Topbp1	T	G	9: 103,197,740 (GRCm39)	S440A	probably benign	Het
Twf1	T	C	15: 94,482,276 (GRCm39)	I157V	possibly damaging	Het
Vmn1r205	T	C	13: 22,776,415 (GRCm39)	N229S	probably benign	Het
Vmn1r27	T	A	6: 58,192,759 (GRCm39)	I82L	probably benign	Het
Vmn2r112	A	G	17: 22,822,594 (GRCm39)	N424S	possibly damaging	Het
Vmn2r68	A	T	7: 84,871,422 (GRCm39)	Y620*	probably null	Het
Zfp51	A	G	17: 21,684,129 (GRCm39)	D248G	probably benign	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
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
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'- CTTCGAGAAGTACAGGCTGAG -3'
(R):5'- TTCCCGAAGTTCTCGCTTGG -3'

Sequencing Primer
(F):5'- TTCGAGAAGTACAGGCTGAGATTGG -3'
(R):5'- GTCTGGCCTCAGGTTCTCGAC -3'

Posted On

2020-07-13