Incidental Mutation 'R7695:Rnf216'
ID |
593598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf216
|
Ensembl Gene |
ENSMUSG00000045078 |
Gene Name |
ring finger protein 216 |
Synonyms |
2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1 |
MMRRC Submission |
045758-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7695 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
142976648-143098749 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 143071659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 440
(H440Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143705
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053498]
[ENSMUST00000197296]
[ENSMUST00000200430]
[ENSMUST00000200607]
|
AlphaFold |
P58283 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053498
AA Change: H383Q
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000052563 Gene: ENSMUSG00000045078 AA Change: H383Q
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 |
possibly damaging
Transcript: ENSMUST00000200607
AA Change: H440Q
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143705 Gene: ENSMUSG00000045078 AA Change: H440Q
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
C |
15: 74,415,487 (GRCm39) |
V689A |
possibly damaging |
Het |
Casp12 |
A |
G |
9: 5,353,641 (GRCm39) |
E225G |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,868,668 (GRCm39) |
L806P |
probably damaging |
Het |
Ccnd3 |
T |
A |
17: 47,908,421 (GRCm39) |
I164N |
probably damaging |
Het |
Cd209b |
A |
G |
8: 3,976,005 (GRCm39) |
V52A |
probably benign |
Het |
Celsr2 |
G |
A |
3: 108,310,069 (GRCm39) |
R1554W |
probably damaging |
Het |
Cnot1 |
A |
T |
8: 96,497,260 (GRCm39) |
I239N |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,683,777 (GRCm39) |
V948D |
|
Het |
Dnmt1 |
C |
A |
9: 20,825,281 (GRCm39) |
G1061V |
probably null |
Het |
Dpysl4 |
A |
G |
7: 138,666,039 (GRCm39) |
M1V |
probably null |
Het |
Elp5 |
T |
C |
11: 69,860,327 (GRCm39) |
T227A |
probably benign |
Het |
Exosc1 |
G |
A |
19: 41,916,519 (GRCm39) |
H86Y |
possibly damaging |
Het |
Foxn4 |
G |
T |
5: 114,394,648 (GRCm39) |
D426E |
probably damaging |
Het |
Gabbr2 |
A |
G |
4: 46,875,687 (GRCm39) |
L145P |
probably damaging |
Het |
Gkn3 |
A |
G |
6: 87,361,422 (GRCm39) |
Y126H |
probably damaging |
Het |
Gm16506 |
A |
G |
14: 43,962,463 (GRCm39) |
F148S |
|
Het |
Gm3558 |
A |
G |
14: 19,121,623 (GRCm39) |
I76T |
probably benign |
Het |
Gm49359 |
A |
G |
13: 62,604,558 (GRCm39) |
F45S |
possibly damaging |
Het |
Gpc5 |
A |
T |
14: 115,330,026 (GRCm39) |
H63L |
unknown |
Het |
H2bl1 |
T |
C |
13: 99,120,766 (GRCm39) |
T87A |
probably damaging |
Het |
Hbs1l |
A |
T |
10: 21,175,116 (GRCm39) |
D28V |
possibly damaging |
Het |
Ide |
G |
A |
19: 37,306,435 (GRCm39) |
H113Y |
|
Het |
Igkv3-3 |
A |
T |
6: 70,664,295 (GRCm39) |
S46C |
probably damaging |
Het |
Igsf10 |
A |
T |
3: 59,233,612 (GRCm39) |
V1707D |
probably damaging |
Het |
Kcna5 |
A |
T |
6: 126,511,174 (GRCm39) |
V318E |
probably damaging |
Het |
Kdm3b |
T |
C |
18: 34,927,612 (GRCm39) |
F158S |
possibly damaging |
Het |
Lrrc14b |
T |
A |
13: 74,511,297 (GRCm39) |
D261V |
possibly damaging |
Het |
Lrrc71 |
T |
A |
3: 87,646,769 (GRCm39) |
I485F |
probably damaging |
Het |
Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
Mast1 |
A |
G |
8: 85,647,557 (GRCm39) |
V560A |
probably damaging |
Het |
Mfap4 |
A |
T |
11: 61,376,545 (GRCm39) |
|
probably null |
Het |
Myh9 |
A |
G |
15: 77,650,936 (GRCm39) |
I1637T |
probably benign |
Het |
Neo1 |
A |
T |
9: 58,810,212 (GRCm39) |
F1080I |
possibly damaging |
Het |
Or1e17 |
T |
A |
11: 73,831,720 (GRCm39) |
V216E |
possibly damaging |
Het |
Or4k48 |
A |
G |
2: 111,475,970 (GRCm39) |
V124A |
probably damaging |
Het |
Or4x6 |
A |
G |
2: 89,949,207 (GRCm39) |
V245A |
probably benign |
Het |
Or51a25 |
T |
C |
7: 102,372,866 (GRCm39) |
H277R |
probably benign |
Het |
Pax2 |
A |
G |
19: 44,821,638 (GRCm39) |
Y318C |
probably damaging |
Het |
Pcnx4 |
A |
T |
12: 72,588,350 (GRCm39) |
M53L |
probably benign |
Het |
Pkd2l2 |
T |
A |
18: 34,561,298 (GRCm39) |
D435E |
possibly damaging |
Het |
Plec |
G |
A |
15: 76,068,055 (GRCm39) |
Q1117* |
probably null |
Het |
Ppp2r2c |
T |
C |
5: 37,104,526 (GRCm39) |
L302P |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,232,497 (GRCm39) |
F855L |
probably benign |
Het |
Reg3d |
A |
T |
6: 78,354,119 (GRCm39) |
W103R |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,542,251 (GRCm39) |
T785A |
probably damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,256,270 (GRCm39) |
Y844F |
probably damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Spp1 |
T |
C |
5: 104,583,009 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
T |
A |
7: 130,330,633 (GRCm39) |
S196T |
probably benign |
Het |
Thrap3 |
G |
A |
4: 126,073,891 (GRCm39) |
S285L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,666,305 (GRCm39) |
R11584* |
probably null |
Het |
Ubap2 |
A |
G |
4: 41,211,740 (GRCm39) |
S341P |
probably damaging |
Het |
Upf3a |
T |
G |
8: 13,848,279 (GRCm39) |
S358R |
probably benign |
Het |
Zdbf2 |
T |
A |
1: 63,346,529 (GRCm39) |
I1636N |
possibly damaging |
Het |
Zfp946 |
C |
A |
17: 22,674,002 (GRCm39) |
T252N |
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 |
|
R3726:Rnf216
|
UTSW |
5 |
143,013,701 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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'- TGGAGACTTAAGATTCCCTCCTTC -3'
(R):5'- AGTGTGCTGTATCACCTCTAAC -3'
Sequencing Primer
(F):5'- ACCCAGTGACTGCTAATCTGC -3'
(R):5'- GTGCTGTATCACCTCTAACTTTATG -3'
|
Posted On |
2019-11-12 |