Incidental Mutation 'R5862:Rnf167'
| ID |
453974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf167
|
| Ensembl Gene |
ENSMUSG00000040746 |
| Gene Name |
ring finger protein 167 |
| Synonyms |
0610010G05Rik, 5730408C10Rik |
| MMRRC Submission |
043231-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.203)
|
| Stock # |
R5862 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70538061-70542247 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70541918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 308
(T308A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000018437]
[ENSMUST00000037534]
[ENSMUST00000108549]
[ENSMUST00000136383]
[ENSMUST00000141695]
[ENSMUST00000139638]
[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: T308A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036472
Gene: ENSMUSG00000040746
AA Change: T308A
| 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 |
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: ENSMUST00000141237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152458
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177669
|
| 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: 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: 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: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,615,895 (GRCm39) |
Y326H |
probably damaging |
Het |
| Alpk2 |
T |
A |
18: 65,440,360 (GRCm39) |
K811N |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,684,278 (GRCm39) |
M1014K |
unknown |
Het |
| Bphl |
G |
A |
13: 34,247,967 (GRCm39) |
V247I |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,764,745 (GRCm39) |
D147V |
possibly damaging |
Het |
| Clec18a |
G |
A |
8: 111,808,190 (GRCm39) |
H71Y |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,757,127 (GRCm39) |
T10A |
probably benign |
Het |
| Cyp2b9 |
G |
T |
7: 25,887,232 (GRCm39) |
G214C |
probably benign |
Het |
| Dctn6 |
A |
T |
8: 34,575,571 (GRCm39) |
|
probably null |
Het |
| Dnaja4 |
G |
T |
9: 54,606,625 (GRCm39) |
|
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,953,004 (GRCm39) |
S227C |
probably benign |
Het |
| Ecel1 |
T |
C |
1: 87,077,318 (GRCm39) |
N630S |
probably benign |
Het |
| Etnppl |
T |
C |
3: 130,425,473 (GRCm39) |
V426A |
possibly damaging |
Het |
| Golgb1 |
A |
T |
16: 36,746,453 (GRCm39) |
|
silent |
Het |
| Hapln3 |
A |
T |
7: 78,771,639 (GRCm39) |
H83Q |
possibly damaging |
Het |
| Hmgxb4 |
A |
G |
8: 75,727,683 (GRCm39) |
K222R |
probably damaging |
Het |
| Hsf5 |
C |
A |
11: 87,513,817 (GRCm39) |
T294K |
probably damaging |
Het |
| Ighv12-2 |
A |
G |
12: 114,091,557 (GRCm39) |
|
noncoding transcript |
Het |
| Lrch3 |
A |
T |
16: 32,816,179 (GRCm39) |
H587L |
probably damaging |
Het |
| Macroh2a1 |
T |
A |
13: 56,222,084 (GRCm39) |
I359L |
probably damaging |
Het |
| Mboat1 |
C |
T |
13: 30,419,680 (GRCm39) |
T339M |
probably damaging |
Het |
| Mief1 |
G |
A |
15: 80,132,586 (GRCm39) |
R156Q |
probably benign |
Het |
| Ms4a6b |
T |
A |
19: 11,499,167 (GRCm39) |
F94I |
probably benign |
Het |
| Neb |
T |
A |
2: 52,069,554 (GRCm39) |
R307* |
probably null |
Het |
| Neu4 |
A |
G |
1: 93,950,652 (GRCm39) |
I147V |
probably benign |
Het |
| Or5m9b |
T |
C |
2: 85,905,990 (GRCm39) |
I302T |
probably benign |
Het |
| Pcyox1 |
A |
G |
6: 86,368,656 (GRCm39) |
|
probably null |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,784 (GRCm39) |
D145V |
probably damaging |
Het |
| Pja2 |
T |
C |
17: 64,604,821 (GRCm39) |
D454G |
probably benign |
Het |
| Plekhg1 |
C |
T |
10: 3,887,914 (GRCm39) |
T281M |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,401,739 (GRCm39) |
I1918V |
probably benign |
Het |
| Rasgef1a |
A |
C |
6: 118,057,405 (GRCm39) |
R35S |
probably benign |
Het |
| Sfmbt2 |
C |
T |
2: 10,406,863 (GRCm39) |
T54I |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shkbp1 |
G |
T |
7: 27,042,829 (GRCm39) |
S536* |
probably null |
Het |
| Taf2 |
C |
A |
15: 54,911,719 (GRCm39) |
V566L |
possibly damaging |
Het |
| Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
| Tyms |
A |
T |
5: 30,268,408 (GRCm39) |
D97E |
probably damaging |
Het |
| Usp20 |
T |
A |
2: 30,896,461 (GRCm39) |
L188* |
probably null |
Het |
| Zbtb10 |
T |
A |
3: 9,330,276 (GRCm39) |
S545T |
probably damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably 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 |
|
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 |
|
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'- ACAGCTTATCACAGTCGCTG -3'
(R):5'- TGAACCTGGGGTAGAATGTCCC -3'
Sequencing Primer
(F):5'- ACAGTCGCTGTGTGGACC -3'
(R):5'- GGGTAGAATGTCCCCTATCCC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation