Incidental Mutation 'R4418:Rnf167'
| ID |
326954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf167
|
| Ensembl Gene |
ENSMUSG00000040746 |
| Gene Name |
ring finger protein 167 |
| Synonyms |
0610010G05Rik, 5730408C10Rik |
| MMRRC Submission |
041139-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R4418 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70538061-70542247 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70538743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 17
(W17R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000018437]
[ENSMUST00000037534]
[ENSMUST00000108549]
[ENSMUST00000136383]
[ENSMUST00000141695]
[ENSMUST00000152160]
[ENSMUST00000139638]
[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: W17R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036472
Gene: ENSMUSG00000040746
AA Change: W17R
| 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: ENSMUST00000152276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141537
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141695
AA Change: W17R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121511
Gene: ENSMUSG00000040746
AA Change: W17R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152160
AA Change: W17R
|
| SMART Domains |
Protein: ENSMUSP00000115057
Gene: ENSMUSG00000040746
AA Change: W17R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177669
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152458
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143313
|
| 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: ENSMUST00000178254
|
| SMART Domains |
Protein: ENSMUSP00000136219
Gene: ENSMUSG00000018293
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Profilin
|
3 |
54 |
1.4e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.2407 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
95% (72/76) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
G |
1: 159,872,372 (GRCm39) |
|
noncoding transcript |
Het |
| Acot12 |
A |
G |
13: 91,932,524 (GRCm39) |
T507A |
possibly damaging |
Het |
| Agap2 |
T |
G |
10: 126,927,519 (GRCm39) |
C1113W |
probably damaging |
Het |
| Ap3s1-ps2 |
A |
T |
8: 95,131,921 (GRCm39) |
|
noncoding transcript |
Het |
| B3gnt3 |
T |
C |
8: 72,146,413 (GRCm39) |
R39G |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,849,194 (GRCm39) |
D899V |
possibly damaging |
Het |
| Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Col6a1 |
T |
A |
10: 76,554,239 (GRCm39) |
K323* |
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,453,972 (GRCm39) |
F285S |
possibly damaging |
Het |
| Dctn2 |
T |
G |
10: 127,114,234 (GRCm39) |
M360R |
probably benign |
Het |
| Dele1 |
T |
C |
18: 38,394,340 (GRCm39) |
|
probably null |
Het |
| Dgka |
A |
T |
10: 128,563,963 (GRCm39) |
L462Q |
probably damaging |
Het |
| Drg2 |
A |
C |
11: 60,358,972 (GRCm39) |
K364T |
probably damaging |
Het |
| Dync1li1 |
T |
A |
9: 114,535,238 (GRCm39) |
S167R |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,956,799 (GRCm39) |
T365A |
probably benign |
Het |
| Fer |
A |
T |
17: 64,336,286 (GRCm39) |
D554V |
possibly damaging |
Het |
| Fignl2 |
A |
G |
15: 100,951,830 (GRCm39) |
S151P |
possibly damaging |
Het |
| Gbgt1 |
A |
G |
2: 28,388,420 (GRCm39) |
Y35C |
probably damaging |
Het |
| Gm6526 |
T |
A |
14: 43,986,302 (GRCm39) |
I79K |
probably damaging |
Het |
| Gpr6 |
T |
G |
10: 40,946,604 (GRCm39) |
N326T |
probably damaging |
Het |
| H2bc4 |
C |
T |
13: 23,868,486 (GRCm39) |
T91M |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,751,178 (GRCm39) |
T268M |
probably benign |
Het |
| Hnf4g |
A |
G |
3: 3,713,154 (GRCm39) |
M243V |
possibly damaging |
Het |
| Homer1 |
A |
G |
13: 93,538,577 (GRCm39) |
E314G |
probably damaging |
Het |
| Hs6st1 |
T |
C |
1: 36,143,108 (GRCm39) |
Y348H |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,595,984 (GRCm39) |
I103N |
probably damaging |
Het |
| Ipo5 |
T |
G |
14: 121,181,305 (GRCm39) |
C944G |
possibly damaging |
Het |
| Kcnb1 |
C |
A |
2: 166,947,595 (GRCm39) |
E418* |
probably null |
Het |
| Kcnk2 |
G |
A |
1: 188,988,924 (GRCm39) |
R207C |
probably damaging |
Het |
| Kctd8 |
T |
C |
5: 69,498,505 (GRCm39) |
E47G |
probably damaging |
Het |
| Klhdc2 |
C |
T |
12: 69,354,371 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,509,140 (GRCm39) |
|
probably benign |
Het |
| Mgat1 |
A |
G |
11: 49,152,072 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mmp25 |
T |
A |
17: 23,863,044 (GRCm39) |
R122S |
probably damaging |
Het |
| Mrpl39 |
C |
A |
16: 84,522,012 (GRCm39) |
|
probably null |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,559,898 (GRCm39) |
F1007S |
probably damaging |
Het |
| Neto1 |
T |
C |
18: 86,422,981 (GRCm39) |
M146T |
probably benign |
Het |
| Opn1sw |
G |
A |
6: 29,379,423 (GRCm39) |
R45* |
probably null |
Het |
| Osbpl5 |
A |
T |
7: 143,263,552 (GRCm39) |
C98* |
probably null |
Het |
| Pacc1 |
T |
A |
1: 191,080,629 (GRCm39) |
V283E |
probably damaging |
Het |
| Pcdhb7 |
C |
T |
18: 37,476,535 (GRCm39) |
A557V |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,586,748 (GRCm39) |
F155L |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pmfbp1 |
C |
A |
8: 110,257,265 (GRCm39) |
Q609K |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,831,795 (GRCm39) |
|
probably null |
Het |
| Ppp2cb |
G |
A |
8: 34,107,077 (GRCm39) |
R254Q |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,619,766 (GRCm39) |
S349T |
probably damaging |
Het |
| Rpl21-ps4 |
A |
G |
14: 11,227,879 (GRCm38) |
|
noncoding transcript |
Het |
| Rxfp2 |
A |
T |
5: 149,972,265 (GRCm39) |
H158L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,661,569 (GRCm39) |
C1807Y |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,745,464 (GRCm39) |
E601D |
probably damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,594,835 (GRCm39) |
C542S |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,832,514 (GRCm39) |
V393A |
possibly damaging |
Het |
| Stil |
A |
G |
4: 114,866,574 (GRCm39) |
N176S |
probably benign |
Het |
| Tap1 |
T |
A |
17: 34,407,353 (GRCm39) |
|
probably null |
Het |
| Tcl1b3 |
A |
T |
12: 105,159,844 (GRCm39) |
Q105L |
probably damaging |
Het |
| Trappc10 |
G |
T |
10: 78,053,022 (GRCm39) |
A251D |
probably damaging |
Het |
| Trim43a |
G |
T |
9: 88,464,206 (GRCm39) |
C39F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,719,825 (GRCm39) |
|
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,803,951 (GRCm39) |
L208* |
probably null |
Het |
| Vmn2r88 |
G |
T |
14: 51,655,538 (GRCm39) |
L583F |
probably damaging |
Het |
| Wasf1 |
C |
T |
10: 40,812,578 (GRCm39) |
H456Y |
unknown |
Het |
| Zfp120 |
A |
G |
2: 149,960,105 (GRCm39) |
I73T |
possibly damaging |
Het |
| Zfp990 |
T |
C |
4: 145,263,298 (GRCm39) |
C99R |
possibly damaging |
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 |
|
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 |
|
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'- CCCATGTAGCTGAGAAGTGG -3'
(R):5'- CCCAGGATCCATATAGGGAAATGG -3'
Sequencing Primer
(F):5'- CATGTAGCTGAGAAGTGGGACCTAG -3'
(R):5'- GGGAAAACATCACCTGCAGTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation