Incidental Mutation 'R6576:Rnf167'
| ID |
523516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf167
|
| Ensembl Gene |
ENSMUSG00000040746 |
| Gene Name |
ring finger protein 167 |
| Synonyms |
0610010G05Rik, 5730408C10Rik |
| MMRRC Submission |
044700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R6576 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70538061-70542247 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 70540588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 156
(K156T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000018437]
[ENSMUST00000037534]
[ENSMUST00000108549]
[ENSMUST00000141695]
[ENSMUST00000152160]
[ENSMUST00000139638]
[ENSMUST00000178254]
[ENSMUST00000136383]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000037534
AA Change: K156T
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000036472
Gene: ENSMUSG00000040746
AA Change: K156T
| 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: ENSMUST00000131642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134804
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000157076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152458
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000143313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177669
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141537
|
| 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: ENSMUST00000141237
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
92% (34/37) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
T |
4: 62,450,842 (GRCm39) |
T102S |
possibly damaging |
Het |
| Aff4 |
C |
A |
11: 53,291,268 (GRCm39) |
H743N |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,108,925 (GRCm39) |
T563A |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,760,578 (GRCm39) |
S774P |
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,294,704 (GRCm39) |
Y528C |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,099,198 (GRCm39) |
S767P |
probably benign |
Het |
| Ces1b |
T |
A |
8: 93,783,547 (GRCm39) |
T558S |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,453,533 (GRCm39) |
Y1176C |
probably damaging |
Het |
| Cldn15 |
A |
T |
5: 137,003,470 (GRCm39) |
E157D |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,686,295 (GRCm39) |
|
probably null |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Dnaaf3 |
A |
G |
7: 4,526,379 (GRCm39) |
I566T |
probably benign |
Het |
| Drc7 |
A |
T |
8: 95,801,886 (GRCm39) |
I716F |
probably damaging |
Het |
| Eddm13 |
G |
A |
7: 6,280,541 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,288,506 (GRCm39) |
T339I |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,033,839 (GRCm39) |
I2497T |
probably benign |
Het |
| Fmo6 |
A |
G |
1: 162,750,264 (GRCm39) |
F264S |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,292,556 (GRCm39) |
D356G |
probably damaging |
Het |
| Id1 |
T |
C |
2: 152,578,583 (GRCm39) |
V108A |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,897,027 (GRCm39) |
D291G |
possibly damaging |
Het |
| Klc3 |
G |
T |
7: 19,131,905 (GRCm39) |
D157E |
possibly damaging |
Het |
| Lasp1 |
C |
T |
11: 97,724,402 (GRCm39) |
R94C |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,496,308 (GRCm39) |
M93K |
probably damaging |
Het |
| Lrrc75a |
G |
A |
11: 62,496,695 (GRCm39) |
P289L |
probably damaging |
Het |
| Med11 |
G |
T |
11: 70,343,996 (GRCm39) |
K105N |
probably benign |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,380 (GRCm39) |
I146N |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,891,371 (GRCm39) |
I69V |
probably benign |
Het |
| Pik3c3 |
A |
G |
18: 30,475,794 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
T |
A |
4: 11,601,577 (GRCm39) |
N377K |
probably benign |
Het |
| Rilp |
A |
G |
11: 75,403,218 (GRCm39) |
|
probably null |
Het |
| Ripk2 |
A |
T |
4: 16,131,558 (GRCm39) |
|
probably null |
Het |
| Shld2 |
T |
C |
14: 33,990,199 (GRCm39) |
T236A |
probably damaging |
Het |
| Snx29 |
T |
C |
16: 11,532,920 (GRCm39) |
|
probably null |
Het |
| Sox6 |
T |
A |
7: 115,300,937 (GRCm39) |
I177F |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,555,419 (GRCm39) |
|
probably null |
Het |
| Unc13a |
T |
A |
8: 72,106,122 (GRCm39) |
T661S |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
| Vmn2r87 |
G |
A |
10: 130,314,654 (GRCm39) |
L311F |
probably benign |
Het |
| Wdr64 |
G |
T |
1: 175,633,494 (GRCm39) |
S915I |
possibly damaging |
Het |
| Xpo5 |
T |
A |
17: 46,551,734 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
T |
C |
14: 20,771,942 (GRCm39) |
V1548A |
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 |
|
|
R5585:Rnf167
|
UTSW |
11 |
70,540,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5862:Rnf167
|
UTSW |
11 |
70,541,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AAGGAAGAAGCCTGCACTAC -3'
(R):5'- AAGCTGTTGTCTGGAACCAG -3'
Sequencing Primer
(F):5'- AGAAGCCTGCACTACTGGGTG -3'
(R):5'- TGGAACCAGAAGCACCCGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation