Incidental Mutation 'K3955:Rccd1'
ID |
262082 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rccd1
|
Ensembl Gene |
ENSMUSG00000038930 |
Gene Name |
RCC1 domain containing 1 |
Synonyms |
E430018M08Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
K3955 (G3)
of strain
706
|
Quality Score |
169 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
79944339-79974512 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79970419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 66
(S66F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032748]
[ENSMUST00000047362]
[ENSMUST00000047558]
[ENSMUST00000107368]
[ENSMUST00000121882]
[ENSMUST00000123189]
[ENSMUST00000154428]
[ENSMUST00000163812]
[ENSMUST00000174172]
[ENSMUST00000173824]
|
AlphaFold |
Q8BTU7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032748
|
SMART Domains |
Protein: ENSMUSP00000032748 Gene: ENSMUSG00000030533
Domain | Start | End | E-Value | Type |
TPR
|
21 |
54 |
9.53e-2 |
SMART |
TPR
|
58 |
91 |
5.48e-2 |
SMART |
TPR
|
92 |
125 |
7.45e-4 |
SMART |
Blast:ARM
|
183 |
224 |
6e-9 |
BLAST |
Blast:ARM
|
226 |
266 |
1e-7 |
BLAST |
Pfam:UNC45-central
|
287 |
505 |
1.2e-43 |
PFAM |
Blast:ARM
|
679 |
717 |
4e-13 |
BLAST |
Blast:ARM
|
720 |
762 |
4e-12 |
BLAST |
Blast:ARM
|
764 |
804 |
8e-16 |
BLAST |
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047362
AA Change: S66F
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000048043 Gene: ENSMUSG00000038930 AA Change: S66F
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 benign
Transcript: ENSMUST00000107368
|
SMART Domains |
Protein: ENSMUSP00000102991 Gene: ENSMUSG00000030533
Domain | Start | End | E-Value | Type |
TPR
|
21 |
54 |
9.53e-2 |
SMART |
TPR
|
58 |
91 |
5.48e-2 |
SMART |
TPR
|
92 |
125 |
7.45e-4 |
SMART |
Blast:ARM
|
183 |
224 |
6e-9 |
BLAST |
Blast:ARM
|
226 |
266 |
1e-7 |
BLAST |
Pfam:UNC45-central
|
314 |
505 |
2.4e-38 |
PFAM |
Blast:ARM
|
679 |
717 |
4e-13 |
BLAST |
Blast:ARM
|
720 |
762 |
4e-12 |
BLAST |
Blast:ARM
|
764 |
804 |
8e-16 |
BLAST |
low complexity region
|
833 |
845 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121882
AA Change: S66F
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000113273 Gene: ENSMUSG00000038930 AA Change: S66F
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: ENSMUST00000155124
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205863
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206363
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144685
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148001
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134288
|
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: ENSMUST00000154428
|
SMART Domains |
Protein: ENSMUSP00000119665 Gene: ENSMUSG00000030533
Domain | Start | End | E-Value | Type |
TPR
|
21 |
54 |
9.53e-2 |
SMART |
TPR
|
58 |
91 |
5.48e-2 |
SMART |
TPR
|
92 |
125 |
7.45e-4 |
SMART |
Blast:ARM
|
183 |
224 |
4e-9 |
BLAST |
Blast:ARM
|
226 |
266 |
6e-8 |
BLAST |
Pfam:UNC45-central
|
287 |
505 |
3.5e-44 |
PFAM |
low complexity region
|
597 |
608 |
N/A |
INTRINSIC |
|
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: 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: 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: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
G |
A |
1: 89,815,326 (GRCm39) |
R738H |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,311,001 (GRCm39) |
E2G |
probably damaging |
Het |
Atad2b |
C |
A |
12: 5,004,536 (GRCm39) |
|
probably benign |
Het |
Atmin |
T |
A |
8: 117,683,775 (GRCm39) |
C478* |
probably null |
Het |
Calr |
T |
C |
8: 85,572,902 (GRCm39) |
Y57C |
probably damaging |
Het |
Cdh13 |
G |
A |
8: 119,401,843 (GRCm39) |
V82M |
probably damaging |
Het |
Ces3a |
A |
T |
8: 105,777,259 (GRCm39) |
|
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,721,293 (GRCm39) |
Y1854H |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 30,988,416 (GRCm39) |
M3429L |
probably benign |
Het |
Dscam |
A |
G |
16: 96,474,887 (GRCm39) |
F1225S |
probably benign |
Het |
E030025P04Rik |
G |
A |
11: 109,034,778 (GRCm39) |
P37S |
unknown |
Het |
Eral1 |
A |
T |
11: 77,966,847 (GRCm39) |
D189E |
probably damaging |
Het |
Fbxw14 |
G |
T |
9: 109,105,313 (GRCm39) |
P284Q |
possibly damaging |
Het |
Fcrl6 |
A |
G |
1: 172,425,251 (GRCm39) |
V260A |
probably benign |
Het |
Fezf2 |
A |
T |
14: 12,345,097 (GRCm38) |
F30Y |
probably damaging |
Het |
Gjb4 |
A |
T |
4: 127,245,293 (GRCm39) |
V216D |
probably benign |
Het |
Gm9758 |
G |
A |
5: 14,963,522 (GRCm39) |
|
probably benign |
Het |
Gm9758 |
C |
G |
5: 14,963,553 (GRCm39) |
V92L |
probably benign |
Het |
Gmps |
A |
C |
3: 63,908,954 (GRCm39) |
R485S |
probably damaging |
Het |
Gtdc1 |
C |
T |
2: 44,642,233 (GRCm39) |
|
probably null |
Het |
H2-Ob |
C |
T |
17: 34,460,158 (GRCm39) |
R19C |
probably damaging |
Het |
Lars2 |
T |
C |
9: 123,206,842 (GRCm39) |
V103A |
probably damaging |
Het |
Mtrex |
A |
C |
13: 113,047,513 (GRCm39) |
Y277* |
probably null |
Het |
Ndnf |
G |
A |
6: 65,678,413 (GRCm39) |
|
probably benign |
Het |
Nectin1 |
A |
G |
9: 43,703,375 (GRCm39) |
Y211C |
probably damaging |
Het |
Notch4 |
C |
T |
17: 34,787,436 (GRCm39) |
T332I |
probably damaging |
Het |
Or13c25 |
A |
G |
4: 52,911,081 (GRCm39) |
F238L |
probably damaging |
Het |
Or8g28 |
A |
C |
9: 39,169,926 (GRCm39) |
L14W |
probably damaging |
Het |
Or8g53 |
A |
G |
9: 39,683,469 (GRCm39) |
I209T |
probably benign |
Het |
Paf1 |
T |
C |
7: 28,096,350 (GRCm39) |
|
probably null |
Het |
Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
Pramel25 |
T |
C |
4: 143,521,710 (GRCm39) |
I442T |
possibly damaging |
Het |
Prkcq |
T |
C |
2: 11,251,604 (GRCm39) |
|
probably benign |
Het |
Proser3 |
G |
T |
7: 30,242,924 (GRCm39) |
P218T |
probably damaging |
Het |
Recql |
G |
T |
6: 142,323,932 (GRCm39) |
S54* |
probably null |
Het |
Samd15 |
G |
T |
12: 87,247,534 (GRCm39) |
G73V |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,923,359 (GRCm39) |
N462S |
probably benign |
Het |
Syne2 |
G |
T |
12: 75,977,439 (GRCm39) |
A1296S |
probably damaging |
Het |
Tlk1 |
T |
C |
2: 70,552,045 (GRCm39) |
E542G |
possibly damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,892,755 (GRCm39) |
T232I |
probably benign |
Het |
Tnrc6c |
T |
A |
11: 117,651,564 (GRCm39) |
Y1696N |
probably damaging |
Het |
Uggt1 |
A |
G |
1: 36,201,434 (GRCm39) |
I1102T |
probably benign |
Het |
Vmn1r84 |
C |
T |
7: 12,095,884 (GRCm39) |
V270M |
probably damaging |
Het |
Wasf1 |
C |
T |
10: 40,812,191 (GRCm39) |
P327S |
unknown |
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 |
R0137:Rccd1
|
UTSW |
7 |
79,970,326 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0671:Rccd1
|
UTSW |
7 |
79,969,965 (GRCm39) |
unclassified |
probably benign |
|
R0909:Rccd1
|
UTSW |
7 |
79,968,799 (GRCm39) |
splice site |
probably null |
|
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 |