Incidental Mutation 'IGL02325:Rnf207'
| ID |
288423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
152391476-152403450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152396237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 509
(I509N)
|
| 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 damaging
Transcript: ENSMUST00000076183
AA Change: I509N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075540
Gene: ENSMUSG00000058498
AA Change: I509N
| 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 |
possibly damaging
Transcript: ENSMUST00000170820
AA Change: I474N
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129400
Gene: ENSMUSG00000058498
AA Change: I474N
| 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: ENSMUST00000142427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135837
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146496
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
A |
T |
5: 115,250,013 (GRCm39) |
I233N |
probably damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,648,303 (GRCm39) |
G393S |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,603,580 (GRCm39) |
D822G |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,552 (GRCm39) |
N817S |
probably benign |
Het |
| Aoah |
G |
A |
13: 21,101,295 (GRCm39) |
E272K |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,882,829 (GRCm39) |
D235G |
possibly damaging |
Het |
| Ccdc186 |
G |
T |
19: 56,801,788 (GRCm39) |
Q110K |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,320,187 (GRCm39) |
T875K |
probably damaging |
Het |
| Chdh |
T |
C |
14: 29,754,782 (GRCm39) |
V264A |
probably benign |
Het |
| Col15a1 |
A |
G |
4: 47,289,364 (GRCm39) |
T854A |
probably damaging |
Het |
| Cuedc1 |
A |
T |
11: 88,060,999 (GRCm39) |
E114V |
probably null |
Het |
| Ddx23 |
A |
T |
15: 98,545,074 (GRCm39) |
D677E |
possibly damaging |
Het |
| Ddx24 |
A |
G |
12: 103,382,525 (GRCm39) |
V640A |
probably damaging |
Het |
| Ddx25 |
T |
C |
9: 35,465,804 (GRCm39) |
|
probably benign |
Het |
| Ddx43 |
T |
C |
9: 78,309,772 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
T |
C |
18: 37,986,653 (GRCm39) |
K1111E |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,725,043 (GRCm39) |
D4370G |
probably damaging |
Het |
| Eef1e1 |
A |
T |
13: 38,840,012 (GRCm39) |
|
probably benign |
Het |
| Egfem1 |
T |
C |
3: 29,206,066 (GRCm39) |
I101T |
probably benign |
Het |
| Gpr142 |
G |
T |
11: 114,696,947 (GRCm39) |
L164F |
probably damaging |
Het |
| Gtf2h5 |
T |
A |
17: 6,131,106 (GRCm39) |
|
probably null |
Het |
| Hap1 |
T |
A |
11: 100,245,190 (GRCm39) |
|
probably null |
Het |
| Hemgn |
T |
G |
4: 46,396,085 (GRCm39) |
I384L |
probably benign |
Het |
| Ints3 |
A |
T |
3: 90,311,349 (GRCm39) |
H419Q |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,383,026 (GRCm39) |
L132P |
probably damaging |
Het |
| Krtap29-1 |
C |
T |
11: 99,869,159 (GRCm39) |
V241M |
probably damaging |
Het |
| Lrguk |
A |
G |
6: 34,106,114 (GRCm39) |
E713G |
probably benign |
Het |
| Lrrk2 |
G |
T |
15: 91,610,511 (GRCm39) |
|
probably null |
Het |
| Nlrp14 |
A |
G |
7: 106,781,523 (GRCm39) |
D240G |
possibly damaging |
Het |
| Omt2b |
A |
T |
9: 78,235,854 (GRCm39) |
T60S |
possibly damaging |
Het |
| Or10ag52 |
G |
T |
2: 87,043,850 (GRCm39) |
G205W |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,733 (GRCm39) |
N569D |
possibly damaging |
Het |
| Plcd3 |
G |
A |
11: 102,971,447 (GRCm39) |
R66* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,897,641 (GRCm39) |
R212Q |
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,020 (GRCm39) |
L371Q |
probably damaging |
Het |
| Sema5a |
T |
G |
15: 32,686,977 (GRCm39) |
S1030A |
possibly damaging |
Het |
| Shank1 |
C |
A |
7: 43,976,504 (GRCm39) |
S534* |
probably null |
Het |
| Sntg2 |
T |
C |
12: 30,245,542 (GRCm39) |
T495A |
probably benign |
Het |
| Spem2 |
A |
T |
11: 69,707,789 (GRCm39) |
V392D |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,029,453 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
A |
T |
1: 39,433,321 (GRCm39) |
F287Y |
probably damaging |
Het |
| Tgfbi |
A |
G |
13: 56,779,043 (GRCm39) |
D422G |
probably benign |
Het |
| Tppp |
G |
A |
13: 74,169,295 (GRCm39) |
A12T |
probably benign |
Het |
| Usp46 |
C |
T |
5: 74,197,689 (GRCm39) |
|
probably null |
Het |
| Zdhhc12 |
C |
T |
2: 29,981,448 (GRCm39) |
V205I |
probably 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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation