Incidental Mutation 'R0845:Rnf207'
| ID |
77315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf207
|
| Ensembl Gene |
ENSMUSG00000058498 |
| Gene Name |
ring finger protein 207 |
| Synonyms |
D330010C22Rik |
| MMRRC Submission |
039024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R0845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152391476-152403450 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 152396521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129400
(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
|
| SMART Domains |
Protein: ENSMUSP00000075540
Gene: ENSMUSG00000058498
| 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 |
noncoding transcript
Transcript: ENSMUST00000135837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170820
|
| SMART Domains |
Protein: ENSMUSP00000129400
Gene: ENSMUSG00000058498
| 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: ENSMUST00000134269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145311
|
| 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: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.2%
|
| Validation Efficiency |
96% (45/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
G |
T |
7: 28,612,855 (GRCm39) |
A116E |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,204 (GRCm39) |
I338V |
probably damaging |
Het |
| Akap13 |
T |
G |
7: 75,375,128 (GRCm39) |
V1920G |
probably damaging |
Het |
| Atp6v0d2 |
C |
T |
4: 19,880,055 (GRCm39) |
V281I |
probably benign |
Het |
| AW209491 |
T |
G |
13: 14,811,607 (GRCm39) |
S153R |
probably damaging |
Het |
| Brd7 |
A |
T |
8: 89,069,395 (GRCm39) |
Y433* |
probably null |
Het |
| Bub1b |
A |
G |
2: 118,440,457 (GRCm39) |
H187R |
probably damaging |
Het |
| Clstn2 |
T |
A |
9: 97,452,681 (GRCm39) |
Q242L |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Comt |
T |
C |
16: 18,226,711 (GRCm39) |
Y225C |
probably damaging |
Het |
| Ctbs |
T |
A |
3: 146,160,862 (GRCm39) |
L143Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,515,489 (GRCm39) |
|
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,194,194 (GRCm39) |
I435T |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,026,469 (GRCm39) |
F1859S |
probably damaging |
Het |
| Glud1 |
A |
G |
14: 34,051,351 (GRCm39) |
|
probably benign |
Het |
| Gm8220 |
A |
G |
14: 44,524,248 (GRCm39) |
H71R |
probably damaging |
Het |
| Gnb1l |
A |
G |
16: 18,371,223 (GRCm39) |
E238G |
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,341,475 (GRCm39) |
H332R |
probably benign |
Het |
| Itga5 |
T |
A |
15: 103,259,196 (GRCm39) |
T744S |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,938,576 (GRCm39) |
E453G |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,640,165 (GRCm39) |
P1570Q |
probably benign |
Het |
| Lrsam1 |
C |
T |
2: 32,843,455 (GRCm39) |
R150Q |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Msln |
T |
C |
17: 25,969,770 (GRCm39) |
Y320C |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,426,486 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,404,183 (GRCm39) |
|
probably null |
Het |
| Mup21 |
A |
G |
4: 62,068,547 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,177,090 (GRCm39) |
V414A |
probably damaging |
Het |
| P2rx5 |
T |
C |
11: 73,056,400 (GRCm39) |
I108T |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,793 (GRCm39) |
L261P |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,522,980 (GRCm39) |
D29G |
probably benign |
Het |
| Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
| Pih1d1 |
A |
G |
7: 44,809,106 (GRCm39) |
D230G |
probably benign |
Het |
| Pik3r1 |
G |
T |
13: 101,822,772 (GRCm39) |
D643E |
probably benign |
Het |
| Septin9 |
T |
C |
11: 117,247,151 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,401,479 (GRCm39) |
S105T |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,177 (GRCm39) |
S676P |
probably benign |
Het |
| Srrm4 |
C |
T |
5: 116,582,944 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
T |
A |
11: 3,869,349 (GRCm39) |
D391V |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,855,303 (GRCm39) |
T808A |
probably damaging |
Het |
| Ubqln3 |
G |
T |
7: 103,791,275 (GRCm39) |
Q272K |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,139,703 (GRCm39) |
|
probably benign |
Het |
| Xpo6 |
G |
A |
7: 125,728,715 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
T |
7: 6,309,091 (GRCm39) |
K586N |
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 |
|
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 |
|
R4052:Rnf207
|
UTSW |
4 |
152,395,894 (GRCm39) |
missense |
probably benign |
0.41 |
|
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'- TTCTGCTTTGGGAGCCACACAG -3'
(R):5'- CGCCACACCGTTTCATTAGCAC -3'
Sequencing Primer
(F):5'- GCCACACAGCCACAAGG -3'
(R):5'- TTAGCACAAAGGTGCTCCTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation