Incidental Mutation 'R5585:Rnf167'
ID |
438667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf167
|
Ensembl Gene |
ENSMUSG00000040746 |
Gene Name |
ring finger protein 167 |
Synonyms |
0610010G05Rik, 5730408C10Rik |
MMRRC Submission |
043139-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.203)
|
Stock # |
R5585 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
70538061-70542247 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70540308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 110
(V110A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000018437]
[ENSMUST00000037534]
[ENSMUST00000108549]
[ENSMUST00000136383]
[ENSMUST00000139638]
[ENSMUST00000141695]
[ENSMUST00000152160]
[ENSMUST00000178254]
|
AlphaFold |
Q91XF4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014750
|
SMART Domains |
Protein: ENSMUSP00000014750 Gene: ENSMUSG00000014606
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
18 |
112 |
1.3e-22 |
PFAM |
Pfam:Mito_carr
|
115 |
213 |
2.6e-19 |
PFAM |
Pfam:Mito_carr
|
216 |
311 |
5.2e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000018437
|
SMART Domains |
Protein: ENSMUSP00000018437 Gene: ENSMUSG00000018293
Domain | Start | End | E-Value | Type |
PROF
|
2 |
140 |
4.46e-58 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037534
AA Change: V110A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000036472 Gene: ENSMUSG00000040746 AA Change: V110A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:PA
|
53 |
150 |
1.4e-14 |
PFAM |
transmembrane domain
|
172 |
194 |
N/A |
INTRINSIC |
RING
|
230 |
271 |
2.65e-9 |
SMART |
low complexity region
|
278 |
303 |
N/A |
INTRINSIC |
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108549
|
SMART Domains |
Protein: ENSMUSP00000104189 Gene: ENSMUSG00000018293
Domain | Start | End | E-Value | Type |
Pfam:Profilin
|
3 |
109 |
7e-24 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131071
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134804
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136383
|
SMART Domains |
Protein: ENSMUSP00000120900 Gene: ENSMUSG00000014606
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
75 |
9.2e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151034
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152276
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177669
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152458
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139638
|
SMART Domains |
Protein: ENSMUSP00000114685 Gene: ENSMUSG00000014606
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
80 |
7.4e-17 |
PFAM |
Pfam:Mito_carr
|
83 |
181 |
1.1e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141695
|
SMART Domains |
Protein: ENSMUSP00000121511 Gene: ENSMUSG00000040746
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152160
|
SMART Domains |
Protein: ENSMUSP00000115057 Gene: ENSMUSG00000040746
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178254
|
SMART Domains |
Protein: ENSMUSP00000136219 Gene: ENSMUSG00000018293
Domain | Start | End | E-Value | Type |
Pfam:Profilin
|
3 |
54 |
1.4e-13 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C23Rik |
A |
T |
17: 46,044,670 (GRCm39) |
I17N |
unknown |
Het |
4932414N04Rik |
A |
G |
2: 68,571,770 (GRCm39) |
T549A |
probably benign |
Het |
9330159F19Rik |
C |
A |
10: 29,101,271 (GRCm39) |
S548Y |
possibly damaging |
Het |
Aanat |
A |
G |
11: 116,487,799 (GRCm39) |
Y166C |
probably damaging |
Het |
Adra2a |
G |
T |
19: 54,034,670 (GRCm39) |
A9S |
probably benign |
Het |
Ap4m1 |
A |
G |
5: 138,170,502 (GRCm39) |
Y17C |
probably damaging |
Het |
Arhgap33 |
T |
G |
7: 30,223,260 (GRCm39) |
M891L |
probably benign |
Het |
Calm5 |
A |
G |
13: 3,904,372 (GRCm39) |
D22G |
possibly damaging |
Het |
Ccdc15 |
C |
T |
9: 37,188,699 (GRCm39) |
R795H |
probably benign |
Het |
Cngb1 |
T |
A |
8: 95,989,767 (GRCm39) |
I323F |
probably damaging |
Het |
Cyp26b1 |
A |
G |
6: 84,554,171 (GRCm39) |
F74L |
probably damaging |
Het |
Dpagt1 |
G |
A |
9: 44,240,439 (GRCm39) |
|
probably null |
Het |
Ercc8 |
C |
T |
13: 108,312,123 (GRCm39) |
P196S |
probably damaging |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Hfm1 |
G |
A |
5: 107,059,305 (GRCm39) |
S239L |
probably benign |
Het |
Hgf |
A |
G |
5: 16,769,799 (GRCm39) |
D91G |
possibly damaging |
Het |
Lefty2 |
T |
A |
1: 180,720,828 (GRCm39) |
V27D |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,294,968 (GRCm39) |
T3450I |
possibly damaging |
Het |
Lrrc38 |
A |
G |
4: 143,076,961 (GRCm39) |
I75V |
probably damaging |
Het |
Ncor2 |
C |
A |
5: 125,144,975 (GRCm39) |
E556* |
probably null |
Het |
Nedd9 |
A |
G |
13: 41,469,950 (GRCm39) |
L401P |
probably damaging |
Het |
Nfatc4 |
T |
C |
14: 56,064,212 (GRCm39) |
L163P |
probably damaging |
Het |
Nln |
T |
C |
13: 104,161,569 (GRCm39) |
N667S |
possibly damaging |
Het |
Or5w20 |
A |
G |
2: 87,727,019 (GRCm39) |
T159A |
possibly damaging |
Het |
Pnpla8 |
T |
C |
12: 44,329,847 (GRCm39) |
I133T |
probably benign |
Het |
Psma1 |
C |
T |
7: 113,873,302 (GRCm39) |
G12S |
probably damaging |
Het |
Psmd3 |
G |
A |
11: 98,573,707 (GRCm39) |
G51D |
possibly damaging |
Het |
Ptprb |
A |
G |
10: 116,216,759 (GRCm39) |
Q1959R |
probably damaging |
Het |
Rhbdf1 |
A |
G |
11: 32,160,222 (GRCm39) |
|
probably null |
Het |
Rrp9 |
C |
T |
9: 106,362,525 (GRCm39) |
S470F |
probably benign |
Het |
Rtn3 |
G |
A |
19: 7,435,560 (GRCm39) |
P125L |
probably benign |
Het |
Scube1 |
C |
T |
15: 83,561,124 (GRCm39) |
C156Y |
probably damaging |
Het |
Tgm2 |
A |
T |
2: 157,973,375 (GRCm39) |
Y245* |
probably null |
Het |
Timeless |
T |
C |
10: 128,076,112 (GRCm39) |
I68T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,645,054 (GRCm39) |
S12934P |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,413,428 (GRCm39) |
Y214* |
probably null |
Het |
Yars2 |
T |
A |
16: 16,122,484 (GRCm39) |
N7K |
probably damaging |
Het |
Zfp142 |
G |
A |
1: 74,617,404 (GRCm39) |
Q150* |
probably null |
Het |
Zfp995 |
C |
T |
17: 22,106,339 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Rnf167 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02336:Rnf167
|
APN |
11 |
70,540,952 (GRCm39) |
missense |
probably benign |
|
IGL03407:Rnf167
|
APN |
11 |
70,541,879 (GRCm39) |
splice site |
probably null |
|
R0366:Rnf167
|
UTSW |
11 |
70,540,143 (GRCm39) |
nonsense |
probably null |
|
R0415:Rnf167
|
UTSW |
11 |
70,540,525 (GRCm39) |
missense |
probably damaging |
0.99 |
R1799:Rnf167
|
UTSW |
11 |
70,540,838 (GRCm39) |
missense |
probably benign |
0.00 |
R1869:Rnf167
|
UTSW |
11 |
70,540,965 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2291:Rnf167
|
UTSW |
11 |
70,540,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R3547:Rnf167
|
UTSW |
11 |
70,540,507 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4418:Rnf167
|
UTSW |
11 |
70,538,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R4798:Rnf167
|
UTSW |
11 |
70,540,961 (GRCm39) |
missense |
probably benign |
0.32 |
R4973:Rnf167
|
UTSW |
11 |
70,540,701 (GRCm39) |
unclassified |
probably benign |
|
R5145:Rnf167
|
UTSW |
11 |
70,540,906 (GRCm39) |
unclassified |
probably benign |
|
R5862:Rnf167
|
UTSW |
11 |
70,541,918 (GRCm39) |
missense |
probably damaging |
0.99 |
R6576:Rnf167
|
UTSW |
11 |
70,540,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7555:Rnf167
|
UTSW |
11 |
70,541,623 (GRCm39) |
missense |
probably benign |
0.19 |
R7993:Rnf167
|
UTSW |
11 |
70,540,821 (GRCm39) |
missense |
probably benign |
0.02 |
R9443:Rnf167
|
UTSW |
11 |
70,540,777 (GRCm39) |
missense |
probably damaging |
0.98 |
R9675:Rnf167
|
UTSW |
11 |
70,541,032 (GRCm39) |
missense |
possibly damaging |
0.73 |
Z1186:Rnf167
|
UTSW |
11 |
70,541,646 (GRCm39) |
frame shift |
probably null |
|
Z1187:Rnf167
|
UTSW |
11 |
70,541,646 (GRCm39) |
frame shift |
probably null |
|
Z1188:Rnf167
|
UTSW |
11 |
70,541,646 (GRCm39) |
frame shift |
probably null |
|
Z1189:Rnf167
|
UTSW |
11 |
70,541,646 (GRCm39) |
frame shift |
probably null |
|
Z1190:Rnf167
|
UTSW |
11 |
70,541,646 (GRCm39) |
frame shift |
probably null |
|
Z1191:Rnf167
|
UTSW |
11 |
70,541,646 (GRCm39) |
frame shift |
probably null |
|
Z1192:Rnf167
|
UTSW |
11 |
70,541,646 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TATTGCACTGCTTCGAAGATTC -3'
(R):5'- ATGGGATCCAGATCTGCTGTTG -3'
Sequencing Primer
(F):5'- GAAGATTCGACTGCAACTTTGACCTC -3'
(R):5'- AGCAGGATATTAGGGATTTAGCCTTC -3'
|
Posted On |
2016-10-26 |