Incidental Mutation 'R3547:Rnf167'
ID |
268269 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf167
|
Ensembl Gene |
ENSMUSG00000040746 |
Gene Name |
ring finger protein 167 |
Synonyms |
0610010G05Rik, 5730408C10Rik |
MMRRC Submission |
040666-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.203)
|
Stock # |
R3547 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70538061-70542247 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70540507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 129
(I129T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000018437]
[ENSMUST00000037534]
[ENSMUST00000108549]
[ENSMUST00000139638]
[ENSMUST00000141695]
[ENSMUST00000152160]
[ENSMUST00000136383]
[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 |
possibly damaging
Transcript: ENSMUST00000037534
AA Change: I129T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000036472 Gene: ENSMUSG00000040746 AA Change: I129T
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 |
noncoding transcript
Transcript: ENSMUST00000151034
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152276
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152458
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177669
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141537
|
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: ENSMUST00000136383
|
SMART Domains |
Protein: ENSMUSP00000120900 Gene: ENSMUSG00000014606
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
75 |
9.2e-18 |
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 |
0.1741 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
98% (62/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg5 |
A |
G |
3: 54,656,736 (GRCm39) |
R316G |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,484,602 (GRCm39) |
N1121D |
possibly damaging |
Het |
Antxr2 |
A |
T |
5: 98,125,516 (GRCm39) |
I247N |
probably benign |
Het |
Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
Arl9 |
A |
G |
5: 77,158,326 (GRCm39) |
D136G |
probably benign |
Het |
Atxn1l |
A |
G |
8: 110,458,981 (GRCm39) |
L427P |
possibly damaging |
Het |
Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
Clec4a3 |
A |
G |
6: 122,941,239 (GRCm39) |
E78G |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
Col12a1 |
T |
G |
9: 79,540,698 (GRCm39) |
K2429T |
probably damaging |
Het |
Col20a1 |
G |
T |
2: 180,636,704 (GRCm39) |
E228D |
probably damaging |
Het |
Cx3cl1 |
A |
C |
8: 95,504,752 (GRCm39) |
E56A |
possibly damaging |
Het |
Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
Fap |
A |
C |
2: 62,349,355 (GRCm39) |
L478R |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
Grid2 |
T |
C |
6: 64,297,005 (GRCm39) |
V456A |
probably damaging |
Het |
Gstcd |
G |
T |
3: 132,790,599 (GRCm39) |
T56K |
possibly damaging |
Het |
Hydin |
G |
A |
8: 111,308,699 (GRCm39) |
G3995D |
possibly damaging |
Het |
Igkv4-50 |
G |
A |
6: 69,677,765 (GRCm39) |
T113I |
probably benign |
Het |
Igkv5-43 |
A |
G |
6: 69,753,240 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
G |
A |
3: 59,237,962 (GRCm39) |
H740Y |
probably benign |
Het |
Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
Lcmt1 |
A |
G |
7: 122,999,702 (GRCm39) |
E94G |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
Ly6m |
C |
A |
15: 74,753,463 (GRCm39) |
A18S |
probably null |
Het |
Map3k3 |
C |
T |
11: 106,033,379 (GRCm39) |
Q211* |
probably null |
Het |
Map4 |
T |
A |
9: 109,881,266 (GRCm39) |
F43L |
possibly damaging |
Het |
Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
Mylk |
G |
A |
16: 34,700,538 (GRCm39) |
V460I |
possibly damaging |
Het |
Nat1 |
A |
G |
8: 67,943,684 (GRCm39) |
D23G |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
Or52b3 |
A |
G |
7: 102,203,677 (GRCm39) |
Y62C |
probably damaging |
Het |
Pi4k2a |
C |
T |
19: 42,078,987 (GRCm39) |
P16L |
probably benign |
Het |
Pitx3 |
T |
A |
19: 46,124,548 (GRCm39) |
Q273L |
possibly damaging |
Het |
Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,388,118 (GRCm39) |
Y428C |
probably damaging |
Het |
Prkcq |
A |
G |
2: 11,288,627 (GRCm39) |
K527E |
probably benign |
Het |
Prune2 |
T |
A |
19: 17,101,712 (GRCm39) |
S2405R |
probably damaging |
Het |
Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfxn2 |
T |
C |
19: 46,578,635 (GRCm39) |
S217P |
probably damaging |
Het |
Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
Slc22a17 |
A |
G |
14: 55,144,694 (GRCm39) |
L573P |
probably damaging |
Het |
Slc25a45 |
T |
C |
19: 5,934,574 (GRCm39) |
Y181H |
probably damaging |
Het |
Slc6a20a |
A |
G |
9: 123,489,567 (GRCm39) |
S159P |
probably damaging |
Het |
Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
Ube4b |
T |
C |
4: 149,419,573 (GRCm39) |
D1045G |
probably damaging |
Het |
Ugt8a |
A |
T |
3: 125,661,031 (GRCm39) |
L487* |
probably null |
Het |
Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
probably damaging |
Het |
Usp9x |
T |
C |
X: 12,994,629 (GRCm39) |
L940P |
probably benign |
Het |
Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
Uty |
A |
C |
Y: 1,158,512 (GRCm39) |
D463E |
possibly damaging |
Het |
Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
possibly damaging |
Het |
Vps13d |
T |
G |
4: 144,801,545 (GRCm39) |
T3558P |
probably damaging |
Het |
Zfp319 |
A |
G |
8: 96,055,445 (GRCm39) |
S253P |
probably damaging |
Het |
Zfp831 |
A |
G |
2: 174,499,476 (GRCm39) |
S1265G |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGTGGTGCACAATGTG -3'
(R):5'- AATAGGGTTACTGGCTTGGGAC -3'
Sequencing Primer
(F):5'- TCCAATGAACTGCTGAACATGGTG -3'
(R):5'- CAAGGCATAATGAGGAGAAAGTC -3'
|
Posted On |
2015-02-19 |