Incidental Mutation 'R5938:Rnf207'
ID |
462365 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf207
|
Ensembl Gene |
ENSMUSG00000058498 |
Gene Name |
ring finger protein 207 |
Synonyms |
D330010C22Rik |
MMRRC Submission |
044131-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R5938 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
152391476-152403450 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 152402385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076183]
[ENSMUST00000130008]
[ENSMUST00000170820]
|
AlphaFold |
Q3V3A7 |
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: 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 |
noncoding transcript
Transcript: ENSMUST00000146496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143968
|
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
Validation Efficiency |
94% (63/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
A |
C |
11: 84,333,400 (GRCm39) |
D503E |
possibly damaging |
Het |
Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
Cacna1d |
C |
T |
14: 29,825,692 (GRCm39) |
V1001I |
probably damaging |
Het |
Calhm3 |
T |
C |
19: 47,140,516 (GRCm39) |
I192M |
probably damaging |
Het |
Cep44 |
A |
G |
8: 57,000,457 (GRCm39) |
S19P |
possibly damaging |
Het |
Cxcl15 |
T |
A |
5: 90,949,225 (GRCm39) |
I130K |
unknown |
Het |
Cxcl3 |
C |
T |
5: 90,934,175 (GRCm39) |
|
probably benign |
Het |
Emc1 |
T |
G |
4: 139,084,931 (GRCm39) |
H167Q |
probably benign |
Het |
Epb41l3 |
T |
G |
17: 69,566,066 (GRCm39) |
Y416D |
probably damaging |
Het |
Erbb2 |
G |
A |
11: 98,326,397 (GRCm39) |
R1007H |
probably damaging |
Het |
Esr1 |
A |
G |
10: 4,916,245 (GRCm39) |
|
probably benign |
Het |
Fat4 |
G |
A |
3: 39,005,388 (GRCm39) |
R1929Q |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,807,835 (GRCm39) |
C1385S |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,256,891 (GRCm39) |
I777T |
probably damaging |
Het |
Gm16092 |
T |
G |
1: 85,440,689 (GRCm39) |
|
noncoding transcript |
Het |
Greb1 |
T |
A |
12: 16,767,259 (GRCm39) |
K314N |
probably damaging |
Het |
Iigp1c |
C |
A |
18: 60,378,724 (GRCm39) |
N86K |
probably damaging |
Het |
Ipcef1 |
A |
G |
10: 6,858,029 (GRCm39) |
|
probably benign |
Het |
Iqank1 |
G |
A |
15: 75,917,281 (GRCm39) |
E305K |
possibly damaging |
Het |
Mgat4a |
C |
A |
1: 37,491,344 (GRCm39) |
L292F |
probably damaging |
Het |
Mill1 |
A |
G |
7: 17,996,613 (GRCm39) |
N143S |
probably benign |
Het |
Mindy1 |
A |
G |
3: 95,201,067 (GRCm39) |
T324A |
probably benign |
Het |
Mpdz |
T |
A |
4: 81,202,851 (GRCm39) |
H1882L |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,393,277 (GRCm39) |
W494R |
probably damaging |
Het |
Oas1c |
A |
T |
5: 120,943,598 (GRCm39) |
H180Q |
probably benign |
Het |
Or2q1 |
T |
A |
6: 42,794,701 (GRCm39) |
C99S |
probably damaging |
Het |
Or4c108 |
T |
C |
2: 88,803,357 (GRCm39) |
M293V |
probably benign |
Het |
Or4k49 |
A |
G |
2: 111,494,708 (GRCm39) |
M46V |
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,620 (GRCm39) |
S217T |
probably damaging |
Het |
Or6c88 |
A |
G |
10: 129,407,396 (GRCm39) |
R291G |
probably damaging |
Het |
Pelp1 |
A |
G |
11: 70,285,693 (GRCm39) |
V725A |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,211,541 (GRCm39) |
E666G |
probably benign |
Het |
Pprc1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
19: 46,059,755 (GRCm39) |
|
probably benign |
Het |
Prdm16 |
T |
C |
4: 154,432,411 (GRCm39) |
D285G |
probably damaging |
Het |
Rasa2 |
A |
G |
9: 96,493,442 (GRCm39) |
S81P |
possibly damaging |
Het |
Rhd |
T |
A |
4: 134,623,287 (GRCm39) |
F418Y |
probably benign |
Het |
Rsf1 |
C |
T |
7: 97,334,766 (GRCm39) |
R1300C |
probably damaging |
Het |
Ryr1 |
A |
C |
7: 28,746,290 (GRCm39) |
L3830R |
probably damaging |
Het |
Sgsh |
A |
G |
11: 119,237,625 (GRCm39) |
Y330H |
probably benign |
Het |
Sh3bp5 |
T |
C |
14: 31,109,791 (GRCm39) |
E130G |
possibly damaging |
Het |
Slc29a3 |
A |
G |
10: 60,588,563 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
A |
G |
6: 142,194,443 (GRCm39) |
L400P |
probably damaging |
Het |
Snd1 |
A |
G |
6: 28,874,858 (GRCm39) |
|
probably null |
Het |
Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Tas2r110 |
A |
T |
6: 132,845,016 (GRCm39) |
I16L |
probably benign |
Het |
Tmx3 |
T |
A |
18: 90,546,058 (GRCm39) |
V213D |
possibly damaging |
Het |
Uba2 |
A |
T |
7: 33,864,915 (GRCm39) |
|
probably null |
Het |
Wfikkn1 |
T |
A |
17: 26,097,886 (GRCm39) |
D112V |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,467,198 (GRCm39) |
N2452S |
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 |
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 |
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'- TGCACTCCAGGTCACAGTTG -3'
(R):5'- GCTTAGTCAGGCTAATAGAAGCAG -3'
Sequencing Primer
(F):5'- TCCAGGTCACAGTTGGCACAG -3'
(R):5'- GAAGCAGTTAGGTGACCCTTATCAC -3'
|
Posted On |
2017-02-28 |