Incidental Mutation 'R4052:Rnf207'
| ID |
314194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf207
|
| Ensembl Gene |
ENSMUSG00000058498 |
| Gene Name |
ring finger protein 207 |
| Synonyms |
D330010C22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R4052 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152391476-152403450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 152395894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 533
(Q533H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048892]
[ENSMUST00000076183]
[ENSMUST00000130008]
[ENSMUST00000170820]
[ENSMUST00000151372]
|
| AlphaFold |
Q3V3A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048892
|
| SMART Domains |
Protein: ENSMUSP00000043390
Gene: ENSMUSG00000039662
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
16 |
38 |
N/A |
INTRINSIC |
|
transmembrane domain
|
42 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
85 |
N/A |
INTRINSIC |
|
Pfam:PEMT
|
158 |
263 |
2.6e-11 |
PFAM |
|
Pfam:ICMT
|
163 |
257 |
3.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076183
AA Change: Q533H
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075540
Gene: ENSMUSG00000058498
AA Change: Q533H
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
25 |
63 |
1.16e-5 |
SMART |
|
Pfam:zf-B_box
|
93 |
145 |
3.6e-11 |
PFAM |
|
Pfam:DUF3583
|
204 |
378 |
1.2e-10 |
PFAM |
|
coiled coil region
|
422 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130008
|
| SMART Domains |
Protein: ENSMUSP00000127196
Gene: ENSMUSG00000058498
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
25 |
63 |
5.6e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134242
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170820
AA Change: Q498H
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129400
Gene: ENSMUSG00000058498
AA Change: Q498H
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
25 |
63 |
1.16e-5 |
SMART |
|
Pfam:zf-B_box
|
93 |
145 |
1e-11 |
PFAM |
|
low complexity region
|
236 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
coiled coil region
|
387 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135837
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134269
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151372
|
| SMART Domains |
Protein: ENSMUSP00000133950
Gene: ENSMUSG00000039662
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
16 |
38 |
N/A |
INTRINSIC |
|
transmembrane domain
|
42 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
T |
G |
13: 119,624,738 (GRCm39) |
|
probably benign |
Het |
| Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
| Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
| Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,325,317 (GRCm39) |
Y379C |
probably damaging |
Het |
| Apol10a |
A |
T |
15: 77,373,185 (GRCm39) |
I274L |
probably benign |
Het |
| BC005537 |
T |
A |
13: 24,993,881 (GRCm39) |
F119I |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cts3 |
T |
A |
13: 61,716,535 (GRCm39) |
I34L |
probably benign |
Het |
| Cyp4a30b |
A |
G |
4: 115,311,539 (GRCm39) |
D69G |
probably benign |
Het |
| Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,929,889 (GRCm39) |
V69A |
possibly damaging |
Het |
| Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,850,995 (GRCm39) |
S836P |
probably damaging |
Het |
| Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
| Erap1 |
A |
G |
13: 74,823,459 (GRCm39) |
N831S |
probably benign |
Het |
| Gimap3 |
T |
A |
6: 48,743,447 (GRCm39) |
T3S |
possibly damaging |
Het |
| Gpr82 |
C |
T |
X: 13,531,898 (GRCm39) |
P149S |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
G |
2: 180,882,268 (GRCm39) |
L175P |
probably damaging |
Het |
| Il36b |
T |
C |
2: 24,049,844 (GRCm39) |
F152L |
probably damaging |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,365,810 (GRCm39) |
S1419P |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 27,000,679 (GRCm39) |
|
probably null |
Het |
| Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,804,340 (GRCm39) |
F293S |
probably damaging |
Het |
| Pabpc1l |
T |
C |
2: 163,885,533 (GRCm39) |
W429R |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,678,771 (GRCm39) |
E399G |
probably benign |
Het |
| Pde6h |
A |
G |
6: 136,936,266 (GRCm39) |
D3G |
unknown |
Het |
| Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,803,963 (GRCm39) |
F89L |
probably damaging |
Het |
| Rif1 |
A |
T |
2: 51,988,483 (GRCm39) |
K741* |
probably null |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
| Spry2 |
A |
T |
14: 106,130,635 (GRCm39) |
C184S |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,936,510 (GRCm39) |
Y152C |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,070,012 (GRCm39) |
A625V |
probably damaging |
Het |
| Tmem39a |
T |
A |
16: 38,406,650 (GRCm39) |
V329D |
probably damaging |
Het |
| Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,685 (GRCm39) |
Q57L |
possibly damaging |
Het |
| Uggt1 |
A |
G |
1: 36,203,570 (GRCm39) |
V1020A |
probably damaging |
Het |
| Zfp941 |
T |
G |
7: 140,392,340 (GRCm39) |
K340Q |
possibly damaging |
Het |
|
| Other mutations in Rnf207 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01643:Rnf207
|
APN |
4 |
152,402,718 (GRCm39) |
splice site |
probably benign |
|
|
IGL02325:Rnf207
|
APN |
4 |
152,396,237 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02451:Rnf207
|
APN |
4 |
152,396,869 (GRCm39) |
missense |
probably benign |
0.25 |
|
felonius
|
UTSW |
4 |
152,396,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
perjury
|
UTSW |
4 |
152,397,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0311:Rnf207
|
UTSW |
4 |
152,400,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Rnf207
|
UTSW |
4 |
152,397,829 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0671:Rnf207
|
UTSW |
4 |
152,391,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0845:Rnf207
|
UTSW |
4 |
152,396,521 (GRCm39) |
splice site |
probably benign |
|
|
R1544:Rnf207
|
UTSW |
4 |
152,398,328 (GRCm39) |
splice site |
probably benign |
|
|
R1667:Rnf207
|
UTSW |
4 |
152,397,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4335:Rnf207
|
UTSW |
4 |
152,400,062 (GRCm39) |
splice site |
probably benign |
|
|
R4649:Rnf207
|
UTSW |
4 |
152,396,612 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5033:Rnf207
|
UTSW |
4 |
152,397,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5268:Rnf207
|
UTSW |
4 |
152,398,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5603:Rnf207
|
UTSW |
4 |
152,396,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Rnf207
|
UTSW |
4 |
152,402,385 (GRCm39) |
intron |
probably benign |
|
|
R6147:Rnf207
|
UTSW |
4 |
152,400,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Rnf207
|
UTSW |
4 |
152,393,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6866:Rnf207
|
UTSW |
4 |
152,396,989 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7166:Rnf207
|
UTSW |
4 |
152,396,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7177:Rnf207
|
UTSW |
4 |
152,396,634 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7354:Rnf207
|
UTSW |
4 |
152,398,548 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7893:Rnf207
|
UTSW |
4 |
152,395,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8200:Rnf207
|
UTSW |
4 |
152,398,492 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8789:Rnf207
|
UTSW |
4 |
152,391,924 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9520:Rnf207
|
UTSW |
4 |
152,396,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Rnf207
|
UTSW |
4 |
152,402,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9666:Rnf207
|
UTSW |
4 |
152,397,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Rnf207
|
UTSW |
4 |
152,397,666 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9766:Rnf207
|
UTSW |
4 |
152,400,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Rnf207
|
UTSW |
4 |
152,400,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGGATGTACCACCACTTCTTAG -3'
(R):5'- TGGCCTTACACCTGCATCTG -3'
Sequencing Primer
(F):5'- GGCAGACCTTTGCAGATTCTAATAC -3'
(R):5'- ACACCTGCATCTGGGGTTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation