Mutagenetix > Incidental Mutation

Incidental Mutation 'R0158:Rnf41'

22990

Institutional Source

Beutler Lab

Gene Symbol

Rnf41

Ensembl Gene

ENSMUSG00000025373

Gene Name

ring finger protein 41

Synonyms

4933415P08Rik, Nrdp1, FLRF, 2210404G21Rik, 4930511A05Rik, D10Ertd722e

MMRRC Submission

038438-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0158 (G1)

Quality Score

205

Status

Validated (trace)

Chromosome

Chromosomal Location

128247526-128277310 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128274104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 252 (E252G)

Ref Sequence

ENSEMBL: ENSMUSP00000132751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096386] [ENSMUST00000171342] [ENSMUST00000217826] [ENSMUST00000218371]

AlphaFold

Q8BH75

Predicted Effect

probably damaging
Transcript: ENSMUST00000096386
AA Change: E252G

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

SMART Domains

Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373
AA Change: E252G

Domain	Start	End	E-Value	Type
RING	18	56	1.54e-5	SMART
Pfam:USP8_interact	137	315	5.1e-96	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157526

Predicted Effect

probably damaging
Transcript: ENSMUST00000171342
AA Change: E252G

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

SMART Domains

Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373
AA Change: E252G

Domain	Start	End	E-Value	Type
RING	18	56	1.54e-5	SMART
Pfam:USP8_interact	137	315	2.3e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217826

Predicted Effect

probably benign
Transcript: ENSMUST00000218371

Meta Mutation Damage Score

0.9473

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.1%

Validation Efficiency

93% (79/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,316 (GRCm39)	R437C	probably damaging	Het
Abhd3	A	G	18: 10,647,840 (GRCm39)	Y315H	possibly damaging	Het
Adam19	C	T	11: 46,033,861 (GRCm39)	P891L	probably damaging	Het
Ampd1	T	A	3: 102,999,046 (GRCm39)	Y400*	probably null	Het
Ap1g1	T	C	8: 110,582,267 (GRCm39)	S724P	probably benign	Het
Bst2	T	A	8: 71,989,861 (GRCm39)	T71S	possibly damaging	Het
C3	A	G	17: 57,531,851 (GRCm39)		probably null	Het
Cacna2d1	C	A	5: 16,566,815 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,213,709 (GRCm39)	H43Y	possibly damaging	Het
Ccdc71	T	G	9: 108,341,336 (GRCm39)	V383G	probably benign	Het
Cd109	A	T	9: 78,596,214 (GRCm39)	Q849L	possibly damaging	Het
Cdkn2a	A	T	4: 89,195,004 (GRCm39)	H115Q	possibly damaging	Het
Ces1e	T	C	8: 93,946,057 (GRCm39)	E161G	probably benign	Het
Cggbp1	C	T	16: 64,676,201 (GRCm39)	S89L	possibly damaging	Het
Crocc	A	T	4: 140,769,553 (GRCm39)		probably benign	Het
Cspg4b	T	A	13: 113,505,687 (GRCm39)	L2272*	probably null	Het
Eef1akmt3	G	A	10: 126,869,142 (GRCm39)	Q111*	probably null	Het
Exoc7	T	C	11: 116,186,118 (GRCm39)	N361S	probably benign	Het
Fat2	G	T	11: 55,187,011 (GRCm39)	S1278R	probably benign	Het
Fbxo42	A	G	4: 140,927,640 (GRCm39)	N640S	probably benign	Het
Fbxw25	A	G	9: 109,483,720 (GRCm39)	V164A	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,917 (GRCm39)	I1848V	probably damaging	Het
Foxs1	T	C	2: 152,774,330 (GRCm39)	E241G	probably damaging	Het
Fras1	A	T	5: 96,924,493 (GRCm39)	I3645F	possibly damaging	Het
Gm14496	T	A	2: 181,639,206 (GRCm39)	V432E	probably benign	Het
H3c2	T	A	13: 23,936,693 (GRCm39)	C111S	probably damaging	Het
Herc1	T	A	9: 66,403,203 (GRCm39)	L4374*	probably null	Het
Ift122	T	C	6: 115,901,445 (GRCm39)		probably benign	Het
Itgav	C	A	2: 83,622,381 (GRCm39)	N654K	probably benign	Het
Itih5	T	C	2: 10,239,803 (GRCm39)		probably benign	Het
Jak2	C	A	19: 29,289,157 (GRCm39)	T1103K	probably benign	Het
Kcnc4	C	A	3: 107,365,920 (GRCm39)	C96F	probably benign	Het
Med13l	C	A	5: 118,880,514 (GRCm39)	S1202Y	unknown	Het
Mefv	T	C	16: 3,533,320 (GRCm39)	E317G	possibly damaging	Het
Ncoa2	T	C	1: 13,222,608 (GRCm39)	T1226A	probably benign	Het
Nktr	C	T	9: 121,579,757 (GRCm39)		probably benign	Het
Nudt5	G	A	2: 5,867,114 (GRCm39)	V61M	probably damaging	Het
Or51a39	C	T	7: 102,363,162 (GRCm39)	A153T	probably benign	Het
Pakap	A	G	4: 57,709,649 (GRCm39)	D198G	possibly damaging	Het
Pcdhb2	A	C	18: 37,430,283 (GRCm39)	Y752S	probably damaging	Het
Pcnx4	A	G	12: 72,603,076 (GRCm39)	D446G	probably benign	Het
Pnp2	G	A	14: 51,201,761 (GRCm39)	R249H	probably damaging	Het
Rgs3	A	T	4: 62,542,121 (GRCm39)	I32F	probably damaging	Het
Rnf139	A	G	15: 58,770,727 (GRCm39)	T251A	probably benign	Het
Rxfp2	T	A	5: 149,975,093 (GRCm39)	F220Y	probably benign	Het
Sdcbp	A	G	4: 6,379,042 (GRCm39)	D43G	possibly damaging	Het
Serpina3f	A	G	12: 104,183,267 (GRCm39)	D43G	probably damaging	Het
Sftpc	T	C	14: 70,758,887 (GRCm39)	K154R	probably null	Het
Simc1	A	G	13: 54,672,530 (GRCm39)	T293A	probably benign	Het
Skint6	A	T	4: 113,042,011 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,225,208 (GRCm39)		probably benign	Het
Spata31e2	T	G	1: 26,723,032 (GRCm39)	H716P	probably damaging	Het
Ston2	A	T	12: 91,707,376 (GRCm39)	I78N	probably damaging	Het
Taok3	T	C	5: 117,355,307 (GRCm39)		probably null	Het
Tent4b	G	A	8: 88,977,371 (GRCm39)	G391D	probably damaging	Het
Tiam1	C	T	16: 89,589,889 (GRCm39)		probably benign	Het
Tnfsf15	T	C	4: 63,648,229 (GRCm39)	H137R	possibly damaging	Het
Tpte	G	A	8: 22,817,755 (GRCm39)	R247H	possibly damaging	Het
Trim2	T	C	3: 84,117,476 (GRCm39)		probably benign	Het
Ulk1	A	T	5: 110,936,810 (GRCm39)		probably benign	Het
Utp4	T	G	8: 107,640,018 (GRCm39)	H442Q	probably null	Het
Vmn1r193	T	A	13: 22,403,798 (GRCm39)	I65F	probably damaging	Het
Vps54	A	T	11: 21,256,962 (GRCm39)	Q690L	probably damaging	Het
Ybx2	T	C	11: 69,831,145 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,568,993 (GRCm39)	G697D	possibly damaging	Het
Zfp202	C	T	9: 40,120,212 (GRCm39)	Q218*	probably null	Het
Zfp820	G	A	17: 22,038,800 (GRCm39)	T176I	probably benign	Het

Other mutations in Rnf41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01885:Rnf41	APN	10	128,271,344 (GRCm39)	missense	probably damaging	1.00
IGL02245:Rnf41	APN	10	128,273,196 (GRCm39)	makesense	probably null
IGL03382:Rnf41	APN	10	128,274,149 (GRCm39)	missense	possibly damaging	0.91
R1163:Rnf41	UTSW	10	128,274,076 (GRCm39)	missense	probably benign
R1396:Rnf41	UTSW	10	128,271,440 (GRCm39)	missense	probably benign
R1690:Rnf41	UTSW	10	128,271,329 (GRCm39)	missense	possibly damaging	0.70
R2860:Rnf41	UTSW	10	128,274,023 (GRCm39)	missense	possibly damaging	0.85
R2861:Rnf41	UTSW	10	128,274,023 (GRCm39)	missense	possibly damaging	0.85
R2862:Rnf41	UTSW	10	128,274,023 (GRCm39)	missense	possibly damaging	0.85
R4382:Rnf41	UTSW	10	128,272,392 (GRCm39)	missense	probably benign	0.33
R7477:Rnf41	UTSW	10	128,271,303 (GRCm39)	missense	probably damaging	0.99
R7492:Rnf41	UTSW	10	128,274,283 (GRCm39)	missense	probably damaging	1.00
R8524:Rnf41	UTSW	10	128,271,299 (GRCm39)	missense	possibly damaging	0.93
R8560:Rnf41	UTSW	10	128,274,222 (GRCm39)	nonsense	probably null
R8691:Rnf41	UTSW	10	128,274,077 (GRCm39)	missense	probably benign	0.24
R9150:Rnf41	UTSW	10	128,272,399 (GRCm39)	missense
R9515:Rnf41	UTSW	10	128,274,299 (GRCm39)	missense	probably benign	0.00
RF015:Rnf41	UTSW	10	128,271,279 (GRCm39)	missense	probably benign	0.12
X0021:Rnf41	UTSW	10	128,273,264 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCAGAGTGGAGGTCATCTCTGAG -3'
(R):5'- AAGGCTGAGCTAAGTGCCCCAAAG -3'

Sequencing Primer
(F):5'- TCATCTCTGAGGAGAAAAAGCC -3'
(R):5'- GAGCAATGGGTTTTCCAACTCTAC -3'

Posted On

2013-04-16