Incidental Mutation 'R2235:Rnf216'
| ID |
240385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf216
|
| Ensembl Gene |
ENSMUSG00000045078 |
| Gene Name |
ring finger protein 216 |
| Synonyms |
2810055G22Rik, F830018F18Rik, UIP83, Ubce7ip1 |
| MMRRC Submission |
040236-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2235 (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]
[ENSMUST00000200430]
[ENSMUST00000200607]
|
| 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: ENSMUST00000200430
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,619,023 (GRCm39) |
V256A |
probably benign |
Het |
| Acbd6 |
A |
G |
1: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,816,611 (GRCm39) |
Y792N |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,474,569 (GRCm39) |
K478R |
probably benign |
Het |
| Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,517,001 (GRCm39) |
D514G |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
| Chrm4 |
A |
G |
2: 91,758,875 (GRCm39) |
S428G |
probably benign |
Het |
| Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
| Cldn34b3 |
A |
T |
X: 75,310,830 (GRCm39) |
I133F |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
| Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,343,247 (GRCm39) |
I325F |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,077,068 (GRCm39) |
D2347G |
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 |
| Fhip1a |
A |
T |
3: 85,568,408 (GRCm39) |
L1037Q |
probably damaging |
Het |
| Fndc11 |
A |
G |
2: 180,864,067 (GRCm39) |
S291G |
possibly damaging |
Het |
| Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
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 |
| Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
| Kcnab1 |
T |
A |
3: 65,226,888 (GRCm39) |
V189D |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
| Ly6h |
A |
G |
15: 75,437,038 (GRCm39) |
S113P |
probably benign |
Het |
| Mto1 |
A |
C |
9: 78,364,846 (GRCm39) |
T362P |
possibly damaging |
Het |
| Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
| Or10a3 |
A |
G |
7: 108,480,172 (GRCm39) |
F214L |
probably benign |
Het |
| Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly 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 |
| Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
| Pld3 |
G |
A |
7: 27,240,532 (GRCm39) |
T136M |
probably benign |
Het |
| Prph2 |
A |
T |
17: 47,222,092 (GRCm39) |
D157V |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,417 (GRCm39) |
S357P |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
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 |
| Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
| Slc4a11 |
T |
C |
2: 130,527,544 (GRCm39) |
E617G |
probably benign |
Het |
| Smap1 |
T |
C |
1: 23,898,139 (GRCm39) |
N99S |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,744,064 (GRCm39) |
Y40N |
probably damaging |
Het |
| Sox4 |
C |
T |
13: 29,136,613 (GRCm39) |
R131Q |
probably damaging |
Het |
| Spaca6 |
T |
C |
17: 18,058,507 (GRCm39) |
|
probably null |
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 |
| Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
| Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,317,843 (GRCm39) |
F2117Y |
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,738,806 (GRCm39) |
M125V |
probably damaging |
Het |
| Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
| Ubp1 |
T |
G |
9: 113,793,712 (GRCm39) |
S340R |
probably damaging |
Het |
| Vit |
T |
C |
17: 78,912,867 (GRCm39) |
S267P |
probably benign |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,461 (GRCm39) |
H486Q |
probably damaging |
Het |
| Zkscan6 |
T |
C |
11: 65,719,098 (GRCm39) |
S373P |
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 |
|
|
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'- CATGTGGAAATCTTAGGAGGTTGC -3'
Sequencing Primer
(F):5'- TCATCCTGTGCCCCAGAAC -3'
(R):5'- GCAGGCATTGATACAGGA -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation