Incidental Mutation 'IGL02336:Rnf167'
| ID |
288826 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf167
|
| Ensembl Gene |
ENSMUSG00000040746 |
| Gene Name |
ring finger protein 167 |
| Synonyms |
0610010G05Rik, 5730408C10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
IGL02336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70538061-70542247 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70540952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 193
(I193V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000018437]
[ENSMUST00000037534]
[ENSMUST00000108549]
[ENSMUST00000141695]
[ENSMUST00000152160]
[ENSMUST00000178254]
[ENSMUST00000139638]
[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 |
probably benign
Transcript: ENSMUST00000037534
AA Change: I193V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036472
Gene: ENSMUSG00000040746
AA Change: I193V
| 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 |
noncoding transcript
Transcript: ENSMUST00000152458
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000151034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177669
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141537
|
| 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 |
|
| 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: ENSMUST00000136383
|
| SMART Domains |
Protein: ENSMUSP00000120900
Gene: ENSMUSG00000014606
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
75 |
9.2e-18 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
G |
2: 93,696,253 (GRCm39) |
V119A |
possibly damaging |
Het |
| Adamts12 |
T |
A |
15: 11,311,331 (GRCm39) |
M1196K |
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,718,024 (GRCm39) |
C345* |
probably null |
Het |
| Adrb2 |
T |
C |
18: 62,312,078 (GRCm39) |
E249G |
probably benign |
Het |
| Amdhd1 |
T |
A |
10: 93,360,291 (GRCm39) |
I423F |
probably benign |
Het |
| Ankhd1 |
A |
G |
18: 36,727,867 (GRCm39) |
N501S |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,179,858 (GRCm39) |
V2127A |
probably damaging |
Het |
| Cd180 |
T |
A |
13: 102,841,821 (GRCm39) |
I289N |
probably damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,949 (GRCm39) |
I224F |
probably damaging |
Het |
| Cox6a2 |
A |
G |
7: 127,805,103 (GRCm39) |
I60T |
possibly damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,471,483 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
G |
A |
5: 27,674,409 (GRCm39) |
E179K |
probably benign |
Het |
| Fasn |
G |
A |
11: 120,704,562 (GRCm39) |
T1341I |
possibly damaging |
Het |
| Fat1 |
C |
T |
8: 45,404,620 (GRCm39) |
T457I |
probably benign |
Het |
| Filip1l |
A |
T |
16: 57,392,096 (GRCm39) |
|
probably null |
Het |
| Gje1 |
A |
T |
10: 14,592,413 (GRCm39) |
I123N |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,894,874 (GRCm39) |
T683A |
probably damaging |
Het |
| Gm29326 |
C |
A |
7: 29,260,833 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5460 |
A |
G |
14: 33,765,909 (GRCm39) |
|
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,200 (GRCm39) |
S739N |
probably benign |
Het |
| Ighv1-42 |
T |
A |
12: 114,900,885 (GRCm39) |
I67F |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,402,041 (GRCm39) |
V408A |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,147,198 (GRCm39) |
W250R |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,078,565 (GRCm39) |
I360T |
possibly damaging |
Het |
| Maml1 |
T |
C |
11: 50,148,992 (GRCm39) |
N916S |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,384,184 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
T |
15: 78,294,474 (GRCm39) |
T69S |
probably benign |
Het |
| Nlk |
C |
A |
11: 78,477,763 (GRCm39) |
V327F |
probably damaging |
Het |
| Nme5 |
A |
T |
18: 34,711,730 (GRCm39) |
S4T |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,045,711 (GRCm39) |
I1625M |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,088,859 (GRCm39) |
|
probably null |
Het |
| Oas1d |
A |
G |
5: 121,057,111 (GRCm39) |
E239G |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,243,761 (GRCm39) |
S110P |
probably damaging |
Het |
| Or52e2 |
T |
C |
7: 102,804,772 (GRCm39) |
M61V |
probably benign |
Het |
| Parn |
T |
A |
16: 13,384,567 (GRCm39) |
I499F |
probably damaging |
Het |
| Ppargc1a |
G |
A |
5: 51,653,068 (GRCm39) |
Q165* |
probably null |
Het |
| Ppp1r12b |
T |
A |
1: 134,814,244 (GRCm39) |
E353V |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,603,842 (GRCm39) |
Q2952R |
possibly damaging |
Het |
| Prkdc |
G |
T |
16: 15,603,843 (GRCm39) |
Q2952H |
probably benign |
Het |
| Qars1 |
G |
T |
9: 108,392,185 (GRCm39) |
E143* |
probably null |
Het |
| Reln |
A |
G |
5: 22,134,132 (GRCm39) |
Y2599H |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,939,041 (GRCm39) |
E803G |
probably damaging |
Het |
| Rnf141 |
G |
A |
7: 110,436,405 (GRCm39) |
Q8* |
probably null |
Het |
| Rprd2 |
A |
T |
3: 95,694,622 (GRCm39) |
M137K |
probably benign |
Het |
| Rtf1 |
T |
G |
2: 119,559,226 (GRCm39) |
|
probably benign |
Het |
| Serpina1d |
T |
A |
12: 103,731,055 (GRCm39) |
R308* |
probably null |
Het |
| Smg7 |
T |
C |
1: 152,719,030 (GRCm39) |
Y899C |
probably benign |
Het |
| Tbr1 |
C |
A |
2: 61,635,336 (GRCm39) |
H95Q |
possibly damaging |
Het |
| Tcf19 |
A |
T |
17: 35,825,380 (GRCm39) |
|
probably null |
Het |
| Timm44 |
T |
A |
8: 4,317,692 (GRCm39) |
R210W |
probably damaging |
Het |
| Trnau1ap |
C |
A |
4: 132,041,331 (GRCm39) |
E194* |
probably null |
Het |
| Trp63 |
G |
A |
16: 25,639,192 (GRCm39) |
G127S |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,735,200 (GRCm39) |
A989V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,600,326 (GRCm39) |
D18988G |
probably damaging |
Het |
| Tubb4b-ps1 |
T |
A |
5: 7,229,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,181 (GRCm39) |
Y97C |
probably benign |
Het |
| Vmn2r77 |
G |
A |
7: 86,451,224 (GRCm39) |
C370Y |
probably damaging |
Het |
| Xntrpc |
C |
A |
7: 101,733,492 (GRCm39) |
A147D |
probably damaging |
Het |
| Zc3h4 |
C |
T |
7: 16,159,702 (GRCm39) |
S424F |
unknown |
Het |
| Zcwpw1 |
T |
A |
5: 137,808,376 (GRCm39) |
S275T |
probably damaging |
Het |
| Zfp979 |
C |
T |
4: 147,699,808 (GRCm39) |
C44Y |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,479,587 (GRCm39) |
H968R |
probably damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,297 (GRCm39) |
V259A |
probably damaging |
Het |
| Zzz3 |
T |
G |
3: 152,133,696 (GRCm39) |
D251E |
possibly damaging |
Het |
|
| Other mutations in Rnf167 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation