Incidental Mutation 'R8168:Rcc1'
| ID |
633899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcc1
|
| Ensembl Gene |
ENSMUSG00000028896 |
| Gene Name |
regulator of chromosome condensation 1 |
| Synonyms |
4931417M11Rik, Chc1 |
| MMRRC Submission |
067594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R8168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132059230-132073061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132063096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 170
(E170G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030726]
[ENSMUST00000084250]
[ENSMUST00000105951]
[ENSMUST00000155129]
|
| AlphaFold |
Q8VE37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030726
AA Change: E170G
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030726
Gene: ENSMUSG00000028896
AA Change: E170G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
47 |
95 |
7.9e-12 |
PFAM |
|
Pfam:RCC1
|
98 |
147 |
7.5e-17 |
PFAM |
|
Pfam:RCC1_2
|
134 |
165 |
1.3e-11 |
PFAM |
|
Pfam:RCC1
|
150 |
200 |
9.9e-10 |
PFAM |
|
Pfam:RCC1_2
|
187 |
216 |
3.2e-7 |
PFAM |
|
Pfam:RCC1
|
203 |
268 |
4.2e-14 |
PFAM |
|
Pfam:RCC1
|
271 |
322 |
1.1e-11 |
PFAM |
|
Pfam:RCC1
|
325 |
373 |
3.4e-10 |
PFAM |
|
Pfam:RCC1
|
376 |
427 |
3.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084250
AA Change: E157G
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081271
Gene: ENSMUSG00000028896
AA Change: E157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
26 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
34 |
82 |
4.1e-10 |
PFAM |
|
Pfam:RCC1
|
85 |
134 |
1.4e-13 |
PFAM |
|
Pfam:RCC1_2
|
121 |
151 |
1.5e-8 |
PFAM |
|
Pfam:RCC1
|
137 |
187 |
1.7e-7 |
PFAM |
|
Pfam:RCC1_2
|
174 |
203 |
3e-5 |
PFAM |
|
Pfam:RCC1
|
190 |
255 |
9.6e-11 |
PFAM |
|
Pfam:RCC1
|
258 |
309 |
1.9e-9 |
PFAM |
|
Pfam:RCC1
|
312 |
360 |
5.7e-9 |
PFAM |
|
Pfam:RCC1
|
363 |
414 |
3.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105951
AA Change: E157G
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101571
Gene: ENSMUSG00000028896
AA Change: E157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
26 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
34 |
82 |
4.1e-10 |
PFAM |
|
Pfam:RCC1
|
85 |
134 |
1.4e-13 |
PFAM |
|
Pfam:RCC1_2
|
121 |
151 |
1.5e-8 |
PFAM |
|
Pfam:RCC1
|
137 |
187 |
1.7e-7 |
PFAM |
|
Pfam:RCC1_2
|
174 |
203 |
3e-5 |
PFAM |
|
Pfam:RCC1
|
190 |
255 |
9.6e-11 |
PFAM |
|
Pfam:RCC1
|
258 |
309 |
1.9e-9 |
PFAM |
|
Pfam:RCC1
|
312 |
360 |
5.7e-9 |
PFAM |
|
Pfam:RCC1
|
363 |
414 |
3.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155129
|
| SMART Domains |
Protein: ENSMUSP00000120701
Gene: ENSMUSG00000028896
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
26 |
N/A |
INTRINSIC |
|
Pfam:RCC1
|
34 |
82 |
3.9e-13 |
PFAM |
|
Pfam:RCC1_2
|
69 |
98 |
5.2e-7 |
PFAM |
|
Pfam:RCC1
|
85 |
116 |
5.3e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,816,857 (GRCm39) |
I652T |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,624,831 (GRCm39) |
T862A |
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,560,983 (GRCm39) |
S404P |
possibly damaging |
Het |
| Catsperz |
A |
G |
19: 6,900,020 (GRCm39) |
S162P |
possibly damaging |
Het |
| Cfap410 |
G |
A |
10: 77,818,778 (GRCm39) |
A150T |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,744,739 (GRCm39) |
S2170T |
unknown |
Het |
| Copa |
A |
T |
1: 171,927,239 (GRCm39) |
H204L |
probably damaging |
Het |
| Cwc22 |
A |
C |
2: 77,757,615 (GRCm39) |
V171G |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,007,646 (GRCm39) |
|
probably null |
Het |
| Flrt1 |
G |
A |
19: 7,074,002 (GRCm39) |
L182F |
probably damaging |
Het |
| Foxf1 |
T |
C |
8: 121,811,901 (GRCm39) |
V255A |
probably damaging |
Het |
| Gnptab |
G |
T |
10: 88,254,995 (GRCm39) |
A194S |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,526,686 (GRCm39) |
R386C |
probably damaging |
Het |
| H2-Aa |
T |
A |
17: 34,506,695 (GRCm39) |
T16S |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,389,282 (GRCm39) |
F52S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,040,300 (GRCm39) |
N2154S |
probably benign |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Jcad |
A |
T |
18: 4,675,094 (GRCm39) |
D952V |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,639,999 (GRCm39) |
W65R |
probably null |
Het |
| Mef2c |
G |
T |
13: 83,804,469 (GRCm39) |
L356F |
probably damaging |
Het |
| Mrgprb2 |
A |
T |
7: 48,201,767 (GRCm39) |
S319R |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,720,732 (GRCm39) |
V288I |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,711,968 (GRCm39) |
I713N |
probably damaging |
Het |
| Nelfa |
A |
T |
5: 34,079,251 (GRCm39) |
N107K |
possibly damaging |
Het |
| Nim1k |
A |
T |
13: 120,174,288 (GRCm39) |
V202D |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,206 (GRCm39) |
T726A |
probably benign |
Het |
| Or4p8 |
T |
A |
2: 88,727,120 (GRCm39) |
M274L |
probably benign |
Het |
| Or9m1 |
T |
A |
2: 87,733,543 (GRCm39) |
H159L |
probably damaging |
Het |
| Phaf1 |
C |
T |
8: 105,975,401 (GRCm39) |
P330L |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,258,263 (GRCm39) |
A514T |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,331,601 (GRCm39) |
E357D |
unknown |
Het |
| Ptp4a3 |
T |
G |
15: 73,628,695 (GRCm39) |
Y152D |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,538,779 (GRCm39) |
C389R |
unknown |
Het |
| Spag17 |
C |
T |
3: 99,942,300 (GRCm39) |
T775M |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,141,695 (GRCm39) |
V1825D |
probably damaging |
Het |
| Tshr |
T |
A |
12: 91,478,739 (GRCm39) |
H195Q |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,096 (GRCm39) |
D254V |
probably damaging |
Het |
| Vps13a |
A |
C |
19: 16,726,912 (GRCm39) |
I244M |
probably benign |
Het |
|
| Other mutations in Rcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02881:Rcc1
|
APN |
4 |
132,065,067 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02927:Rcc1
|
APN |
4 |
132,065,067 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02802:Rcc1
|
UTSW |
4 |
132,065,067 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02837:Rcc1
|
UTSW |
4 |
132,065,067 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0240:Rcc1
|
UTSW |
4 |
132,060,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Rcc1
|
UTSW |
4 |
132,060,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0828:Rcc1
|
UTSW |
4 |
132,063,136 (GRCm39) |
unclassified |
probably benign |
|
|
R1606:Rcc1
|
UTSW |
4 |
132,062,087 (GRCm39) |
splice site |
probably null |
|
|
R2155:Rcc1
|
UTSW |
4 |
132,065,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3721:Rcc1
|
UTSW |
4 |
132,065,125 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4633:Rcc1
|
UTSW |
4 |
132,063,080 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4908:Rcc1
|
UTSW |
4 |
132,065,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Rcc1
|
UTSW |
4 |
132,063,046 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5461:Rcc1
|
UTSW |
4 |
132,061,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5627:Rcc1
|
UTSW |
4 |
132,065,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6088:Rcc1
|
UTSW |
4 |
132,060,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6197:Rcc1
|
UTSW |
4 |
132,065,073 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6456:Rcc1
|
UTSW |
4 |
132,061,427 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7127:Rcc1
|
UTSW |
4 |
132,062,107 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7440:Rcc1
|
UTSW |
4 |
132,065,110 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7529:Rcc1
|
UTSW |
4 |
132,061,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8469:Rcc1
|
UTSW |
4 |
132,061,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8733:Rcc1
|
UTSW |
4 |
132,065,515 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9454:Rcc1
|
UTSW |
4 |
132,062,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9483:Rcc1
|
UTSW |
4 |
132,062,808 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCTAAGACCCAAGGCTGAAC -3'
(R):5'- CGCAGACTCTGGACATTTCC -3'
Sequencing Primer
(F):5'- TACCAGCCAGCTCCTGC -3'
(R):5'- CATTCTTCAGGATTTCCATGTGTGGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation