Incidental Mutation 'R3726:Rnf216'
ID |
270785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf216
|
Ensembl Gene |
ENSMUSG00000045078 |
Gene Name |
ring finger protein 216 |
Synonyms |
2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1 |
MMRRC Submission |
040717-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3726 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
142976648-143098749 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 143013701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 708
(I708N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143705
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053498]
[ENSMUST00000197296]
[ENSMUST00000200430]
[ENSMUST00000200607]
|
AlphaFold |
P58283 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053498
AA Change: I651N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000052563 Gene: ENSMUSG00000045078 AA Change: I651N
Domain | Start | End | E-Value | Type |
Blast:RING
|
560 |
620 |
4e-6 |
BLAST |
IBR
|
629 |
693 |
6.82e-5 |
SMART |
IBR
|
702 |
769 |
1.79e-1 |
SMART |
low complexity region
|
786 |
803 |
N/A |
INTRINSIC |
low complexity region
|
842 |
866 |
N/A |
INTRINSIC |
low complexity region
|
869 |
881 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197296
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200430
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200607
AA Change: I708N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143705 Gene: ENSMUSG00000045078 AA Change: I708N
Domain | Start | End | E-Value | Type |
Blast:RING
|
560 |
620 |
4e-6 |
BLAST |
IBR
|
629 |
693 |
6.82e-5 |
SMART |
IBR
|
702 |
769 |
1.79e-1 |
SMART |
low complexity region
|
786 |
803 |
N/A |
INTRINSIC |
low complexity region
|
842 |
866 |
N/A |
INTRINSIC |
low complexity region
|
869 |
881 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1414 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (49/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402K13Rik |
AGAGGAG |
AGAG |
X: 8,971,342 (GRCm39) |
|
probably benign |
Het |
Caap1 |
A |
T |
4: 94,389,380 (GRCm39) |
V318D |
probably damaging |
Het |
Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
Ccsap |
T |
C |
8: 124,586,100 (GRCm39) |
E17G |
possibly damaging |
Het |
Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
Coq3 |
T |
C |
4: 21,892,941 (GRCm39) |
|
probably benign |
Het |
Daam2 |
T |
A |
17: 49,776,766 (GRCm39) |
D773V |
probably damaging |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
Fam50b |
G |
A |
13: 34,930,869 (GRCm39) |
R115H |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,305,248 (GRCm39) |
F83L |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,819,311 (GRCm39) |
A5015S |
possibly damaging |
Het |
Galnt13 |
A |
G |
2: 54,988,669 (GRCm39) |
H497R |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,744,920 (GRCm39) |
C201R |
possibly damaging |
Het |
Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
Gsr |
A |
G |
8: 34,161,565 (GRCm39) |
K124R |
probably benign |
Het |
Hdgf |
T |
C |
3: 87,821,804 (GRCm39) |
S140P |
probably benign |
Het |
Iqcg |
C |
T |
16: 32,849,411 (GRCm39) |
E292K |
probably damaging |
Het |
Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lonp1 |
A |
G |
17: 56,925,310 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
Ppp3cb |
A |
G |
14: 20,581,010 (GRCm39) |
|
probably null |
Het |
Ptprm |
G |
A |
17: 67,263,855 (GRCm39) |
P464L |
possibly damaging |
Het |
Rars2 |
A |
G |
4: 34,645,787 (GRCm39) |
T235A |
probably benign |
Het |
Rimkla |
A |
T |
4: 119,334,986 (GRCm39) |
|
probably null |
Het |
Six5 |
T |
A |
7: 18,830,855 (GRCm39) |
V494E |
possibly damaging |
Het |
Slc43a2 |
A |
G |
11: 75,433,980 (GRCm39) |
|
probably benign |
Het |
Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
Sptan1 |
G |
A |
2: 29,908,431 (GRCm39) |
D1711N |
possibly damaging |
Het |
Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
Taf1c |
A |
G |
8: 120,329,809 (GRCm39) |
F111L |
probably damaging |
Het |
Thbs1 |
A |
G |
2: 117,945,191 (GRCm39) |
I255V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
Trpm8 |
A |
T |
1: 88,255,918 (GRCm39) |
Y191F |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,844,621 (GRCm39) |
I934V |
probably damaging |
Het |
Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
Vwf |
G |
T |
6: 125,654,911 (GRCm39) |
|
probably benign |
Het |
Wdr53 |
T |
C |
16: 32,075,538 (GRCm39) |
C248R |
probably benign |
Het |
Zfp217 |
A |
G |
2: 169,961,130 (GRCm39) |
V399A |
probably damaging |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
Het |
|
Other mutations in Rnf216 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02417:Rnf216
|
APN |
5 |
143,054,665 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02502:Rnf216
|
APN |
5 |
143,054,622 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02536:Rnf216
|
APN |
5 |
143,065,995 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03196:Rnf216
|
APN |
5 |
143,066,766 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4445001:Rnf216
|
UTSW |
5 |
143,071,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R0270:Rnf216
|
UTSW |
5 |
143,065,996 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0422:Rnf216
|
UTSW |
5 |
143,076,125 (GRCm39) |
missense |
probably benign |
0.15 |
R0422:Rnf216
|
UTSW |
5 |
143,001,409 (GRCm39) |
nonsense |
probably null |
|
R0782:Rnf216
|
UTSW |
5 |
143,054,647 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1109:Rnf216
|
UTSW |
5 |
143,054,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R1917:Rnf216
|
UTSW |
5 |
142,978,561 (GRCm39) |
missense |
probably benign |
0.03 |
R2233:Rnf216
|
UTSW |
5 |
143,076,681 (GRCm39) |
missense |
probably benign |
|
R2234:Rnf216
|
UTSW |
5 |
143,076,681 (GRCm39) |
missense |
probably benign |
|
R2235:Rnf216
|
UTSW |
5 |
143,076,681 (GRCm39) |
missense |
probably benign |
|
R2340:Rnf216
|
UTSW |
5 |
143,066,089 (GRCm39) |
missense |
probably damaging |
0.99 |
R3015:Rnf216
|
UTSW |
5 |
143,061,480 (GRCm39) |
critical splice donor site |
probably null |
|
R4231:Rnf216
|
UTSW |
5 |
143,078,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R4885:Rnf216
|
UTSW |
5 |
143,076,335 (GRCm39) |
nonsense |
probably null |
|
R4942:Rnf216
|
UTSW |
5 |
143,078,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R4973:Rnf216
|
UTSW |
5 |
143,076,071 (GRCm39) |
missense |
probably benign |
|
R5291:Rnf216
|
UTSW |
5 |
143,075,967 (GRCm39) |
missense |
probably benign |
|
R5307:Rnf216
|
UTSW |
5 |
143,078,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Rnf216
|
UTSW |
5 |
143,078,754 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5416:Rnf216
|
UTSW |
5 |
143,001,526 (GRCm39) |
nonsense |
probably null |
|
R5888:Rnf216
|
UTSW |
5 |
143,054,069 (GRCm39) |
splice site |
probably null |
|
R6048:Rnf216
|
UTSW |
5 |
143,054,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R6451:Rnf216
|
UTSW |
5 |
142,978,589 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6595:Rnf216
|
UTSW |
5 |
143,076,412 (GRCm39) |
missense |
probably benign |
0.00 |
R7422:Rnf216
|
UTSW |
5 |
143,076,591 (GRCm39) |
missense |
probably benign |
0.01 |
R7470:Rnf216
|
UTSW |
5 |
142,978,480 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7504:Rnf216
|
UTSW |
5 |
143,061,514 (GRCm39) |
missense |
probably benign |
0.27 |
R7507:Rnf216
|
UTSW |
5 |
143,075,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R7695:Rnf216
|
UTSW |
5 |
143,071,659 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7757:Rnf216
|
UTSW |
5 |
143,065,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R7768:Rnf216
|
UTSW |
5 |
143,084,199 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R8056:Rnf216
|
UTSW |
5 |
142,978,616 (GRCm39) |
missense |
probably benign |
0.02 |
R8081:Rnf216
|
UTSW |
5 |
143,013,719 (GRCm39) |
missense |
probably damaging |
0.98 |
R8985:Rnf216
|
UTSW |
5 |
143,076,180 (GRCm39) |
missense |
probably benign |
0.16 |
Z1176:Rnf216
|
UTSW |
5 |
143,084,198 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
Z1177:Rnf216
|
UTSW |
5 |
142,978,562 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAACATCAGTGCTATAAGACCTG -3'
(R):5'- TGCTCGTTGGGACATTTCAC -3'
Sequencing Primer
(F):5'- CATCAGTGCTATAAGACCTGTTACC -3'
(R):5'- GGGACATTTCACAGGCATTG -3'
|
Posted On |
2015-03-18 |