Incidental Mutation 'R6595:Rnf216'
| ID |
524855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf216
|
| Ensembl Gene |
ENSMUSG00000045078 |
| Gene Name |
ring finger protein 216 |
| Synonyms |
2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1 |
| MMRRC Submission |
044719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6595 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142976648-143098749 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143076412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 157
(D157E)
|
| 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: D100E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052563
Gene: ENSMUSG00000045078
AA Change: D100E
| 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 |
noncoding transcript
Transcript: ENSMUST00000197217
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200430
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200607
AA Change: D157E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143705
Gene: ENSMUSG00000045078
AA Change: D157E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 119,993,710 (GRCm39) |
Y1310F |
probably benign |
Het |
| Ankrd54 |
A |
G |
15: 78,942,185 (GRCm39) |
F148L |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Camk2b |
A |
T |
11: 5,942,856 (GRCm39) |
H126Q |
probably damaging |
Het |
| Camsap3 |
G |
T |
8: 3,654,186 (GRCm39) |
V608L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,658,742 (GRCm39) |
M796L |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,853,517 (GRCm39) |
D308G |
probably benign |
Het |
| Cfap299 |
A |
T |
5: 98,949,717 (GRCm39) |
D217V |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,486,710 (GRCm39) |
I275M |
probably damaging |
Het |
| Cuta |
A |
G |
17: 27,157,856 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,699,374 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
G |
1: 34,289,761 (GRCm39) |
L784R |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,184,750 (GRCm39) |
M1681V |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 77,994,494 (GRCm39) |
D274E |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,457,205 (GRCm39) |
D2049V |
probably damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,174 (GRCm39) |
Y115H |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,655,603 (GRCm39) |
D46E |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,247 (GRCm39) |
Y110C |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 939,829 (GRCm39) |
S994P |
probably benign |
Homo |
| Klhl2 |
A |
T |
8: 65,196,077 (GRCm39) |
C555* |
probably null |
Het |
| Krtap4-7 |
A |
T |
11: 99,534,560 (GRCm39) |
I101N |
unknown |
Het |
| Or13a27 |
A |
G |
7: 139,925,560 (GRCm39) |
L114P |
probably damaging |
Het |
| Or4f57 |
A |
T |
2: 111,790,515 (GRCm39) |
V301E |
possibly damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,648,961 (GRCm39) |
S697P |
probably damaging |
Het |
| Pramel27 |
T |
C |
4: 143,579,326 (GRCm39) |
C304R |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,167,361 (GRCm39) |
H237Q |
probably damaging |
Het |
| Rxrg |
T |
A |
1: 167,454,905 (GRCm39) |
F163I |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,069,028 (GRCm39) |
I351N |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Svopl |
T |
C |
6: 38,018,002 (GRCm39) |
|
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,108,145 (GRCm39) |
P469S |
probably benign |
Het |
| Tbkbp1 |
G |
A |
11: 97,029,578 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,295,523 (GRCm39) |
V324A |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,889 (GRCm39) |
T535I |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,723,285 (GRCm39) |
S85T |
probably damaging |
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 |
|
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'- GGTCAAGCCAGTACTCTTCTCC -3'
(R):5'- CCAGTGGCAAGATCTGAACAG -3'
Sequencing Primer
(F):5'- CCAATTAGCTGGTCATCTACTGAGG -3'
(R):5'- AATCTAGAGCAGACTTTGAAGCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation