Incidental Mutation 'R2233:Rnf216'
ID |
240169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf216
|
Ensembl Gene |
ENSMUSG00000045078 |
Gene Name |
ring finger protein 216 |
Synonyms |
2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1 |
MMRRC Submission |
040234-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2233 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
142976648-143098749 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 143076681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 68
(H68Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143705
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053498]
[ENSMUST00000197296]
[ENSMUST00000200607]
[ENSMUST00000200430]
|
AlphaFold |
P58283 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053498
|
SMART Domains |
Protein: ENSMUSP00000052563 Gene: ENSMUSG00000045078
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: ENSMUST00000200607
AA Change: H68Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143705 Gene: ENSMUSG00000045078 AA Change: H68Y
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: ENSMUST00000200430
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
A |
G |
1: 63,584,671 (GRCm39) |
I360V |
probably benign |
Het |
Adarb1 |
A |
G |
10: 77,153,183 (GRCm39) |
V322A |
probably damaging |
Het |
Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
Ccdc24 |
T |
C |
4: 117,727,113 (GRCm39) |
K79R |
possibly damaging |
Het |
Cfap44 |
A |
G |
16: 44,271,888 (GRCm39) |
I1214V |
probably benign |
Het |
Chrm4 |
A |
G |
2: 91,758,875 (GRCm39) |
S428G |
probably benign |
Het |
Chrnb1 |
A |
T |
11: 69,686,428 (GRCm39) |
I64N |
probably damaging |
Het |
Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
Dazap1 |
A |
G |
10: 80,113,433 (GRCm39) |
K110E |
possibly damaging |
Het |
Dhx16 |
T |
C |
17: 36,198,778 (GRCm39) |
C737R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,313,343 (GRCm39) |
E6384G |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
E2f4 |
T |
A |
8: 106,025,283 (GRCm39) |
V121E |
probably damaging |
Het |
Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fezf1 |
T |
C |
6: 23,246,002 (GRCm39) |
T388A |
probably damaging |
Het |
Gimap6 |
T |
A |
6: 48,681,418 (GRCm39) |
H72L |
possibly damaging |
Het |
Gm11149 |
A |
G |
9: 49,473,446 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
C |
T |
4: 96,612,266 (GRCm39) |
R499Q |
probably damaging |
Het |
Grhl1 |
A |
G |
12: 24,658,510 (GRCm39) |
D385G |
probably damaging |
Het |
Hyou1 |
C |
T |
9: 44,300,388 (GRCm39) |
T855M |
probably benign |
Het |
Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
Kcnab1 |
T |
A |
3: 65,226,888 (GRCm39) |
V189D |
probably damaging |
Het |
Kifap3 |
T |
A |
1: 163,683,634 (GRCm39) |
D438E |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrrc41 |
G |
A |
4: 115,953,582 (GRCm39) |
R756Q |
possibly damaging |
Het |
Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
Nphp3 |
G |
A |
9: 103,914,575 (GRCm39) |
R1052H |
probably benign |
Het |
Nynrin |
G |
A |
14: 56,109,524 (GRCm39) |
V1544I |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
Or9m1 |
G |
A |
2: 87,733,819 (GRCm39) |
S67F |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,417,113 (GRCm39) |
F577L |
probably damaging |
Het |
Otc |
A |
G |
X: 10,169,606 (GRCm39) |
Q216R |
probably benign |
Het |
Ppp1r12a |
A |
G |
10: 108,034,780 (GRCm39) |
I108M |
possibly damaging |
Het |
Prl7a1 |
C |
A |
13: 27,826,402 (GRCm39) |
|
probably null |
Het |
Prss16 |
T |
C |
13: 22,193,579 (GRCm39) |
D72G |
possibly damaging |
Het |
Qrsl1 |
T |
C |
10: 43,772,092 (GRCm39) |
K33E |
probably benign |
Het |
Rabepk |
A |
T |
2: 34,685,246 (GRCm39) |
I58N |
possibly damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
Het |
Rhobtb3 |
C |
A |
13: 76,020,484 (GRCm39) |
C606F |
possibly damaging |
Het |
Scap |
T |
C |
9: 110,210,661 (GRCm39) |
C998R |
probably damaging |
Het |
Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
Sel1l2 |
T |
C |
2: 140,086,085 (GRCm39) |
Y502C |
probably damaging |
Het |
Sf3a2 |
G |
T |
10: 80,638,663 (GRCm39) |
A95S |
probably benign |
Het |
Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
Slc25a29 |
A |
T |
12: 108,801,587 (GRCm39) |
C9S |
possibly damaging |
Het |
Snap91 |
T |
C |
9: 86,680,624 (GRCm39) |
T427A |
probably benign |
Het |
St3gal6 |
A |
G |
16: 58,293,897 (GRCm39) |
F211L |
probably damaging |
Het |
Stab1 |
G |
A |
14: 30,883,837 (GRCm39) |
S240F |
probably benign |
Het |
Sun3 |
T |
A |
11: 8,973,371 (GRCm39) |
K109* |
probably null |
Het |
Syne1 |
T |
C |
10: 4,991,484 (GRCm39) |
N8410S |
probably benign |
Het |
Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
Tmem135 |
T |
C |
7: 88,803,282 (GRCm39) |
N297S |
probably damaging |
Het |
Tnk1 |
C |
T |
11: 69,746,017 (GRCm39) |
|
probably null |
Het |
Txnl4b |
A |
G |
8: 110,295,551 (GRCm39) |
|
probably benign |
Het |
Uck1 |
T |
C |
2: 32,148,315 (GRCm39) |
D167G |
probably damaging |
Het |
Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
Xylt2 |
C |
T |
11: 94,560,822 (GRCm39) |
V239M |
possibly damaging |
Het |
Zmpste24 |
T |
C |
4: 120,955,162 (GRCm39) |
D12G |
probably benign |
Het |
Zscan25 |
A |
G |
5: 145,220,502 (GRCm39) |
Y99C |
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 |
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 |
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'- TCAGAATCATCCTGTGCCCC -3'
(R):5'- ACATGTGGAAATCTTAGGAGGTTG -3'
Sequencing Primer
(F):5'- TCATCCTGTGCCCCAGAAC -3'
(R):5'- GCAGGCATTGATACAGGA -3'
|
Posted On |
2014-10-15 |