Incidental Mutation 'IGL02451:Rnf207'
ID |
293636 |
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: 0.073)
|
Stock # |
IGL02451
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
152391476-152403450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 152396869 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 425
(R425H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076183]
[ENSMUST00000130008]
[ENSMUST00000170820]
|
AlphaFold |
Q3V3A7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076183
AA Change: R425H
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000075540 Gene: ENSMUSG00000058498 AA Change: R425H
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: ENSMUST00000134269
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135837
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170820
AA Change: R390H
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000129400 Gene: ENSMUSG00000058498 AA Change: R390H
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: ENSMUST00000145311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143968
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
T |
G |
5: 138,561,809 (GRCm39) |
T126P |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,782,563 (GRCm39) |
|
probably benign |
Het |
B430305J03Rik |
A |
G |
3: 61,271,562 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,664,741 (GRCm39) |
F47L |
possibly damaging |
Het |
Bcl2l14 |
G |
T |
6: 134,400,804 (GRCm39) |
G75V |
probably benign |
Het |
Btnl4 |
T |
C |
17: 34,694,901 (GRCm39) |
H4R |
probably benign |
Het |
Champ1 |
C |
A |
8: 13,928,739 (GRCm39) |
P299Q |
probably damaging |
Het |
Cimap3 |
T |
A |
3: 105,921,820 (GRCm39) |
E34D |
probably benign |
Het |
Cldnd2 |
A |
G |
7: 43,091,082 (GRCm39) |
K5E |
probably benign |
Het |
Ctr9 |
T |
A |
7: 110,642,631 (GRCm39) |
L401* |
probably null |
Het |
Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
Enpp4 |
A |
T |
17: 44,412,315 (GRCm39) |
L298H |
probably damaging |
Het |
Git1 |
T |
C |
11: 77,391,513 (GRCm39) |
C222R |
possibly damaging |
Het |
Gpam |
T |
C |
19: 55,076,635 (GRCm39) |
T189A |
probably damaging |
Het |
Hgfac |
T |
G |
5: 35,201,158 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
A |
4: 119,991,162 (GRCm39) |
S2221T |
probably damaging |
Het |
Ifi47 |
T |
C |
11: 48,986,604 (GRCm39) |
Y124H |
probably damaging |
Het |
Il1a |
T |
C |
2: 129,148,575 (GRCm39) |
E45G |
probably damaging |
Het |
Itga11 |
T |
A |
9: 62,642,635 (GRCm39) |
I186N |
probably damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Mapk13 |
A |
G |
17: 28,995,387 (GRCm39) |
T203A |
probably damaging |
Het |
Mrpl37 |
T |
A |
4: 106,923,839 (GRCm39) |
I52F |
probably damaging |
Het |
Mtrex |
C |
T |
13: 113,027,881 (GRCm39) |
V660M |
probably damaging |
Het |
Nr1i2 |
A |
G |
16: 38,069,654 (GRCm39) |
F417L |
probably benign |
Het |
Or10ag59 |
T |
A |
2: 87,405,576 (GRCm39) |
S49R |
probably benign |
Het |
Or6c215 |
G |
A |
10: 129,637,702 (GRCm39) |
Q231* |
probably null |
Het |
Osbpl1a |
T |
C |
18: 13,047,550 (GRCm39) |
|
probably benign |
Het |
Parg |
C |
T |
14: 31,964,186 (GRCm39) |
T112M |
probably damaging |
Het |
Pou6f1 |
T |
C |
15: 100,477,821 (GRCm39) |
T166A |
possibly damaging |
Het |
Prtg |
A |
G |
9: 72,764,281 (GRCm39) |
I585V |
possibly damaging |
Het |
Ptpru |
T |
G |
4: 131,504,086 (GRCm39) |
|
probably benign |
Het |
Rab6a |
T |
C |
7: 100,285,970 (GRCm39) |
|
probably null |
Het |
Rusf1 |
A |
G |
7: 127,875,582 (GRCm39) |
L257P |
probably damaging |
Het |
Slc27a2 |
A |
G |
2: 126,420,912 (GRCm39) |
M468V |
probably benign |
Het |
Slc30a1 |
A |
G |
1: 191,639,441 (GRCm39) |
H108R |
possibly damaging |
Het |
Sned1 |
A |
G |
1: 93,163,930 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
A |
T |
7: 27,065,014 (GRCm39) |
F2095Y |
probably null |
Het |
Sspo |
A |
T |
6: 48,437,237 (GRCm39) |
|
probably benign |
Het |
Tbx19 |
A |
G |
1: 164,967,740 (GRCm39) |
S336P |
probably benign |
Het |
Tmem101 |
T |
A |
11: 102,044,119 (GRCm39) |
D256V |
probably damaging |
Het |
Trbv20 |
T |
G |
6: 41,165,210 (GRCm39) |
L2V |
unknown |
Het |
Trpc7 |
A |
G |
13: 56,970,274 (GRCm39) |
S382P |
probably damaging |
Het |
Tut4 |
C |
A |
4: 108,386,473 (GRCm39) |
Y1114* |
probably null |
Het |
Uhmk1 |
T |
C |
1: 170,040,095 (GRCm39) |
T91A |
possibly damaging |
Het |
Vmn2r10 |
T |
A |
5: 109,143,788 (GRCm39) |
R721* |
probably null |
Het |
Vmn2r94 |
T |
A |
17: 18,478,453 (GRCm39) |
Y98F |
possibly damaging |
Het |
Zfp532 |
A |
G |
18: 65,756,672 (GRCm39) |
R202G |
probably damaging |
Het |
Zfp827 |
T |
C |
8: 79,787,601 (GRCm39) |
S256P |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,792,214 (GRCm39) |
I2266T |
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 |
|
IGL02325:Rnf207
|
APN |
4 |
152,396,237 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |