Incidental Mutation 'R0909:Rccd1'
ID |
262387 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rccd1
|
Ensembl Gene |
ENSMUSG00000038930 |
Gene Name |
RCC1 domain containing 1 |
Synonyms |
E430018M08Rik |
MMRRC Submission |
039067-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0909 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
79944339-79974512 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 79968799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047362]
[ENSMUST00000047558]
[ENSMUST00000121882]
[ENSMUST00000121882]
[ENSMUST00000123189]
[ENSMUST00000163812]
[ENSMUST00000174172]
[ENSMUST00000174199]
[ENSMUST00000173824]
|
AlphaFold |
Q8BTU7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047362
|
SMART Domains |
Protein: ENSMUSP00000048043 Gene: ENSMUSG00000038930
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
Pfam:RCC1
|
179 |
228 |
2.9e-17 |
PFAM |
Pfam:RCC1_2
|
215 |
244 |
1.3e-10 |
PFAM |
Pfam:RCC1
|
231 |
316 |
7.8e-9 |
PFAM |
Pfam:RCC1_2
|
303 |
332 |
3.3e-10 |
PFAM |
Pfam:RCC1
|
319 |
370 |
4.1e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047558
|
SMART Domains |
Protein: ENSMUSP00000043379 Gene: ENSMUSG00000038943
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
22 |
36 |
1.45e-5 |
PROSPERO |
Pfam:MAP65_ASE1
|
37 |
602 |
5.3e-172 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121882
|
SMART Domains |
Protein: ENSMUSP00000113273 Gene: ENSMUSG00000038930
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
Pfam:RCC1
|
179 |
228 |
7.4e-18 |
PFAM |
Pfam:RCC1_2
|
216 |
244 |
5.5e-10 |
PFAM |
Pfam:RCC1_2
|
304 |
332 |
6.2e-10 |
PFAM |
Pfam:RCC1
|
319 |
370 |
1.3e-13 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121882
|
SMART Domains |
Protein: ENSMUSP00000113273 Gene: ENSMUSG00000038930
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
Pfam:RCC1
|
179 |
228 |
7.4e-18 |
PFAM |
Pfam:RCC1_2
|
216 |
244 |
5.5e-10 |
PFAM |
Pfam:RCC1_2
|
304 |
332 |
6.2e-10 |
PFAM |
Pfam:RCC1
|
319 |
370 |
1.3e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123109
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123189
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134288
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144685
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148001
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205863
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155124
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174051
|
SMART Domains |
Protein: ENSMUSP00000134262 Gene: ENSMUSG00000038943
Domain | Start | End | E-Value | Type |
Pfam:MAP65_ASE1
|
1 |
244 |
1.9e-55 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163812
|
SMART Domains |
Protein: ENSMUSP00000129675 Gene: ENSMUSG00000038943
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
22 |
36 |
1.51e-5 |
PROSPERO |
Pfam:MAP65_ASE1
|
37 |
605 |
1.9e-173 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174111
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174172
|
SMART Domains |
Protein: ENSMUSP00000133387 Gene: ENSMUSG00000038943
Domain | Start | End | E-Value | Type |
Pfam:MAP65_ASE1
|
34 |
615 |
2.9e-167 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174199
|
SMART Domains |
Protein: ENSMUSP00000133295 Gene: ENSMUSG00000038943
Domain | Start | End | E-Value | Type |
Pfam:MAP65_ASE1
|
7 |
524 |
8.1e-158 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173824
|
SMART Domains |
Protein: ENSMUSP00000133910 Gene: ENSMUSG00000038943
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
22 |
36 |
8.71e-6 |
PROSPERO |
Pfam:MAP65_ASE1
|
37 |
565 |
6e-168 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
T |
A |
19: 3,765,788 (GRCm39) |
M21K |
probably benign |
Het |
Ap3s2 |
T |
C |
7: 79,530,266 (GRCm39) |
N183S |
probably benign |
Het |
Cd109 |
A |
G |
9: 78,543,755 (GRCm39) |
I100V |
probably benign |
Het |
Cep170b |
A |
G |
12: 112,698,473 (GRCm39) |
K77R |
probably null |
Het |
Chmp5 |
C |
A |
4: 40,960,968 (GRCm39) |
N202K |
probably benign |
Het |
Cnbd1 |
A |
T |
4: 19,122,444 (GRCm39) |
L15I |
probably benign |
Het |
Ehmt2 |
T |
C |
17: 35,125,480 (GRCm39) |
V542A |
possibly damaging |
Het |
Exosc9 |
A |
T |
3: 36,608,853 (GRCm39) |
I151F |
probably damaging |
Het |
Eya2 |
A |
G |
2: 165,596,413 (GRCm39) |
N308S |
probably benign |
Het |
Fbxw21 |
C |
A |
9: 108,985,476 (GRCm39) |
A101S |
possibly damaging |
Het |
Frem3 |
A |
C |
8: 81,390,035 (GRCm39) |
N1762T |
probably benign |
Het |
H2-DMb2 |
C |
A |
17: 34,367,783 (GRCm39) |
T68N |
probably benign |
Het |
Hbs1l |
A |
G |
10: 21,183,637 (GRCm39) |
E126G |
probably benign |
Het |
Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
Mrpl44 |
G |
A |
1: 79,757,370 (GRCm39) |
V272I |
probably benign |
Het |
Msh4 |
G |
A |
3: 153,569,141 (GRCm39) |
L723F |
probably benign |
Het |
Nemf |
T |
A |
12: 69,388,384 (GRCm39) |
D329V |
probably damaging |
Het |
Noxa1 |
A |
T |
2: 24,981,806 (GRCm39) |
L99Q |
probably damaging |
Het |
Nr6a1 |
A |
T |
2: 38,775,218 (GRCm39) |
D44E |
probably benign |
Het |
Obscn |
T |
C |
11: 58,965,890 (GRCm39) |
D3131G |
probably damaging |
Het |
Or10a5 |
T |
C |
7: 106,635,401 (GRCm39) |
I13T |
probably benign |
Het |
Or10c1 |
T |
G |
17: 37,521,809 (GRCm39) |
I312L |
probably benign |
Het |
Or52p2 |
A |
T |
7: 102,237,654 (GRCm39) |
C99S |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,402,279 (GRCm39) |
|
probably null |
Het |
Rbsn |
G |
A |
6: 92,166,791 (GRCm39) |
Q618* |
probably null |
Het |
Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
Socs5 |
T |
A |
17: 87,441,201 (GRCm39) |
L47Q |
probably benign |
Het |
Ttc16 |
T |
C |
2: 32,652,880 (GRCm39) |
T593A |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,851,271 (GRCm39) |
I748V |
probably damaging |
Het |
Vipas39 |
T |
C |
12: 87,288,105 (GRCm39) |
D435G |
probably benign |
Het |
Vmn2r69 |
C |
T |
7: 85,055,873 (GRCm39) |
G755D |
probably benign |
Het |
Vsnl1 |
A |
G |
12: 11,376,372 (GRCm39) |
F171S |
probably damaging |
Het |
Wbp2nl |
G |
A |
15: 82,198,275 (GRCm39) |
A271T |
probably benign |
Het |
|
Other mutations in Rccd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01915:Rccd1
|
APN |
7 |
79,969,966 (GRCm39) |
unclassified |
probably benign |
|
IGL02024:Rccd1
|
APN |
7 |
79,968,755 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02747:Rccd1
|
APN |
7 |
79,970,238 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02936:Rccd1
|
APN |
7 |
79,966,794 (GRCm39) |
missense |
probably damaging |
0.97 |
K3955:Rccd1
|
UTSW |
7 |
79,970,419 (GRCm39) |
missense |
probably benign |
0.04 |
R0137:Rccd1
|
UTSW |
7 |
79,970,326 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0671:Rccd1
|
UTSW |
7 |
79,969,965 (GRCm39) |
unclassified |
probably benign |
|
R1588:Rccd1
|
UTSW |
7 |
79,969,859 (GRCm39) |
nonsense |
probably null |
|
R1706:Rccd1
|
UTSW |
7 |
79,970,411 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1826:Rccd1
|
UTSW |
7 |
79,969,966 (GRCm39) |
unclassified |
probably benign |
|
R1934:Rccd1
|
UTSW |
7 |
79,970,272 (GRCm39) |
missense |
possibly damaging |
0.64 |
R2983:Rccd1
|
UTSW |
7 |
79,970,276 (GRCm39) |
nonsense |
probably null |
|
R3861:Rccd1
|
UTSW |
7 |
79,970,116 (GRCm39) |
missense |
probably benign |
0.00 |
R7387:Rccd1
|
UTSW |
7 |
79,970,350 (GRCm39) |
missense |
probably benign |
0.26 |
R7967:Rccd1
|
UTSW |
7 |
79,968,657 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8338:Rccd1
|
UTSW |
7 |
79,970,618 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9116:Rccd1
|
UTSW |
7 |
79,970,728 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Rccd1
|
UTSW |
7 |
79,970,315 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
|
Posted On |
2015-02-04 |