Mutagenetix > Incidental Mutation

Incidental Mutation 'R1551:Rnf40'

169925

Institutional Source

Beutler Lab

Gene Symbol

Rnf40

Ensembl Gene

ENSMUSG00000030816

Gene Name

ring finger protein 40

Synonyms

MMRRC Submission

039590-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R1551 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

127187870-127202777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 127195506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 511 (K511Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146004 (fasta)

Gene Model

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

AlphaFold

Q3U319

Predicted Effect

probably benign
Transcript: ENSMUST00000033088
AA Change: K571Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816
AA Change: K571Q

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: K611Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206724

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206914
AA Change: K511Q

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 83.4%

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
Abca14	A	G	7: 119,918,101 (GRCm39)	I1534M	probably benign	Het
Acad11	G	A	9: 104,003,785 (GRCm39)	A626T	probably damaging	Het
Akap9	T	A	5: 4,119,174 (GRCm39)	N3560K	probably benign	Het
Aldh3a2	C	T	11: 61,144,470 (GRCm39)	V363I	probably benign	Het
Anks1b	A	G	10: 89,912,843 (GRCm39)	T289A	probably benign	Het
Atp11a	A	G	8: 12,862,340 (GRCm39)	N64S	probably damaging	Het
Atp11c	T	C	X: 59,282,072 (GRCm39)		probably null	Het
Cd101	T	C	3: 100,919,329 (GRCm39)	H591R	probably damaging	Het
Cd36	C	T	5: 18,002,120 (GRCm39)	V294I	probably benign	Het
Cfap47	C	A	X: 78,532,251 (GRCm39)	L842F	probably damaging	Het
Cgref1	T	C	5: 31,090,929 (GRCm39)	E295G	probably benign	Het
Cit	A	G	5: 116,083,901 (GRCm39)	M787V	probably benign	Het
Clcn6	G	A	4: 148,097,235 (GRCm39)	P611S	possibly damaging	Het
Clec12a	A	C	6: 129,327,384 (GRCm39)	M1L	probably damaging	Het
Cmtm6	C	T	9: 114,575,573 (GRCm39)	R161W	probably damaging	Het
Colec10	G	T	15: 54,325,658 (GRCm39)	V163L	probably damaging	Het
Coq8b	A	G	7: 26,956,907 (GRCm39)	Y520C	probably damaging	Het
Ctsll3	C	A	13: 60,948,821 (GRCm39)	E45*	probably null	Het
Dsg3	A	G	18: 20,669,975 (GRCm39)	E663G	possibly damaging	Het
Dst	G	A	1: 34,231,293 (GRCm39)	R2962H	probably benign	Het
Etnk2	T	C	1: 133,300,995 (GRCm39)	I254T	probably damaging	Het
Fbxo36	T	C	1: 84,858,835 (GRCm39)	I40T	probably damaging	Het
Fgd2	G	A	17: 29,597,383 (GRCm39)	V568M	probably damaging	Het
Fmn1	T	C	2: 113,356,207 (GRCm39)	Y883H	possibly damaging	Het
Fpr-rs4	A	T	17: 18,242,589 (GRCm39)	T199S	possibly damaging	Het
Gm12789	A	G	4: 101,846,131 (GRCm39)	K131E	probably benign	Het
Gm17641	C	A	3: 68,777,448 (GRCm39)		silent	Het
Gm6665	G	T	18: 31,953,340 (GRCm39)	R43S	probably damaging	Het
Gzmc	T	A	14: 56,470,203 (GRCm39)	H98L	probably damaging	Het
Hecw1	T	A	13: 14,491,528 (GRCm39)	E75V	probably damaging	Het
Herc2	G	T	7: 55,796,417 (GRCm39)	V1930L	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Htr6	A	T	4: 138,801,776 (GRCm39)	C99*	probably null	Het
Lgals2	C	T	15: 78,736,511 (GRCm39)	M16I	probably benign	Het
Lrrc8c	A	G	5: 105,756,090 (GRCm39)	N622D	probably damaging	Het
Myo15a	A	T	11: 60,383,791 (GRCm39)	I1613F	possibly damaging	Het
Oacyl	C	T	18: 65,875,280 (GRCm39)	R455C	probably benign	Het
Or13c25	A	T	4: 52,911,397 (GRCm39)	Y132*	probably null	Het
Or5ac21	T	A	16: 59,123,766 (GRCm39)	N84K	probably benign	Het
Or5bh3	T	C	X: 49,098,872 (GRCm39)	T81A	possibly damaging	Het
Orm3	A	G	4: 63,275,146 (GRCm39)		probably null	Het
Phf2	G	C	13: 48,985,579 (GRCm39)	T67S	unknown	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pigt	T	C	2: 164,349,323 (GRCm39)	V542A	probably damaging	Het
Pnpla7	T	C	2: 24,937,720 (GRCm39)	F992L	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Pramel11	A	G	4: 143,622,263 (GRCm39)	M364T	probably benign	Het
Prmt7	A	G	8: 106,964,014 (GRCm39)	T303A	probably benign	Het
Prpf4b	A	T	13: 35,078,426 (GRCm39)	I679F	possibly damaging	Het
Psd4	T	A	2: 24,293,292 (GRCm39)	M719K	probably benign	Het
Ranbp9	A	T	13: 43,578,593 (GRCm39)	M160K	probably benign	Het
Rfc1	A	G	5: 65,434,706 (GRCm39)	Y687H	probably damaging	Het
Rimbp2	T	C	5: 128,883,423 (GRCm39)	K119R	probably damaging	Het
Rnf113a1	T	C	X: 36,455,046 (GRCm39)	M1T	probably null	Het
Ryr2	T	A	13: 11,800,029 (GRCm39)		probably null	Het
Scrib	A	T	15: 75,937,011 (GRCm39)	V365E	probably damaging	Het
Slc6a17	A	G	3: 107,379,443 (GRCm39)	V575A	possibly damaging	Het
Spta1	A	G	1: 174,067,732 (GRCm39)	N2053S	possibly damaging	Het
Ssbp2	G	A	13: 91,790,511 (GRCm39)		probably null	Het
Stab1	G	T	14: 30,882,456 (GRCm39)	N460K	probably benign	Het
Tbc1d9	T	A	8: 83,992,787 (GRCm39)	C964S	probably benign	Het
Tmed11	A	G	5: 108,927,680 (GRCm39)		probably null	Het
Tmem191	C	A	16: 17,095,984 (GRCm39)	R285S	probably damaging	Het
Tpr	T	C	1: 150,312,552 (GRCm39)	S1917P	probably benign	Het
Vill	A	T	9: 118,892,440 (GRCm39)	H357L	probably benign	Het
Vmn1r229	A	G	17: 21,035,051 (GRCm39)	T99A	probably benign	Het
Vmn2r14	A	G	5: 109,369,283 (GRCm39)	S97P	probably damaging	Het
Wasf2	G	T	4: 132,917,483 (GRCm39)	R194L	unknown	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
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'- ACCCCTGACTGCAAGAAGGAGATG -3'
(R):5'- TTGTTGGCTCAAGGCTCGGAAG -3'

Sequencing Primer
(F):5'- CTGCAAGAAGGAGATGGCTTTATTG -3'
(R):5'- ACTTGTACATGTCCAGGAGC -3'

Posted On

2014-04-13