Incidental Mutation 'R8469:Rcc1'
| ID |
656943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcc1
|
| Ensembl Gene |
ENSMUSG00000028896 |
| Gene Name |
regulator of chromosome condensation 1 |
| Synonyms |
4931417M11Rik, Chc1 |
| MMRRC Submission |
067913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R8469 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132059230-132073061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132061445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 368
(S368P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030726]
[ENSMUST00000030730]
[ENSMUST00000084250]
[ENSMUST00000105951]
[ENSMUST00000105960]
[ENSMUST00000105962]
[ENSMUST00000125513]
[ENSMUST00000127402]
[ENSMUST00000137520]
[ENSMUST00000147652]
[ENSMUST00000155129]
|
| AlphaFold |
Q8VE37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030726
AA Change: S368P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030726
Gene: ENSMUSG00000028896
AA Change: S368P
| 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: ENSMUST00000030730
|
| SMART Domains |
Protein: ENSMUSP00000030730
Gene: ENSMUSG00000028898
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
4 |
78 |
3.66e-8 |
SMART |
|
RRM
|
97 |
171 |
2.2e-11 |
SMART |
|
low complexity region
|
185 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084250
AA Change: S355P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081271
Gene: ENSMUSG00000028896
AA Change: S355P
| 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 damaging
Transcript: ENSMUST00000105951
AA Change: S355P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101571
Gene: ENSMUSG00000028896
AA Change: S355P
| 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: ENSMUST00000105960
|
| SMART Domains |
Protein: ENSMUSP00000101580
Gene: ENSMUSG00000028898
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DHG|A
|
21 |
70 |
9e-25 |
PDB |
|
SCOP:d1fj7a_
|
22 |
70 |
7e-7 |
SMART |
|
Blast:RRM
|
31 |
70 |
2e-21 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105962
|
| SMART Domains |
Protein: ENSMUSP00000101582
Gene: ENSMUSG00000028898
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
4 |
78 |
3.66e-8 |
SMART |
|
PDB:2DHG|A
|
87 |
137 |
7e-24 |
PDB |
|
SCOP:d1cvja1
|
97 |
137 |
9e-5 |
SMART |
|
Blast:RRM
|
97 |
138 |
2e-20 |
BLAST |
|
low complexity region
|
145 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125513
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127402
|
| SMART Domains |
Protein: ENSMUSP00000120657
Gene: ENSMUSG00000028898
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
4 |
78 |
3.66e-8 |
SMART |
|
low complexity region
|
101 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137520
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147652
|
| SMART Domains |
Protein: ENSMUSP00000127273
Gene: ENSMUSG00000028898
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
4 |
78 |
1.73e-9 |
SMART |
|
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,797 (GRCm39) |
F113S |
probably damaging |
Het |
| Abcd4 |
A |
G |
12: 84,659,190 (GRCm39) |
Y189H |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,240,457 (GRCm39) |
D210G |
possibly damaging |
Het |
| Adam28 |
C |
T |
14: 68,844,029 (GRCm39) |
V774I |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,500,264 (GRCm39) |
|
probably null |
Het |
| Atg2b |
A |
T |
12: 105,604,170 (GRCm39) |
I1577N |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,978,834 (GRCm39) |
S827P |
possibly damaging |
Het |
| Carmil1 |
A |
T |
13: 24,296,011 (GRCm39) |
C377S |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,090,083 (GRCm39) |
E112G |
possibly damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,711,340 (GRCm39) |
R496S |
probably damaging |
Het |
| Dmgdh |
G |
A |
13: 93,843,175 (GRCm39) |
R337Q |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,813,895 (GRCm39) |
F345S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,268,109 (GRCm39) |
R2844G |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,845,186 (GRCm39) |
I353L |
unknown |
Het |
| Fam78a |
A |
G |
2: 31,959,345 (GRCm39) |
V255A |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,210,074 (GRCm39) |
I1406L |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,678,680 (GRCm39) |
F949S |
probably benign |
Het |
| Jmjd7 |
G |
A |
2: 119,860,643 (GRCm39) |
A57T |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,724,804 (GRCm39) |
T269A |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,767,065 (GRCm39) |
D364V |
probably damaging |
Het |
| Lrp12 |
T |
C |
15: 39,735,791 (GRCm39) |
T733A |
probably damaging |
Het |
| Marchf7 |
T |
A |
2: 60,064,670 (GRCm39) |
N315K |
probably benign |
Het |
| Methig1 |
A |
G |
15: 100,251,130 (GRCm39) |
I14V |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,481,223 (GRCm39) |
M1K |
probably null |
Het |
| Nras |
A |
G |
3: 102,966,217 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,425,366 (GRCm39) |
T1508A |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,019,063 (GRCm39) |
T917A |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,090,347 (GRCm39) |
V21A |
possibly damaging |
Het |
| Pcdha5 |
T |
A |
18: 37,094,798 (GRCm39) |
W436R |
probably benign |
Het |
| Pde4d |
T |
C |
13: 108,996,722 (GRCm39) |
V8A |
probably benign |
Het |
| Pou4f3 |
C |
T |
18: 42,528,339 (GRCm39) |
T94M |
probably benign |
Het |
| Prdm6 |
G |
T |
18: 53,597,758 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,786,198 (GRCm39) |
R674G |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,952,485 (GRCm39) |
V110E |
probably benign |
Het |
| Reep4 |
T |
A |
14: 70,783,180 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
T |
C |
2: 143,831,661 (GRCm39) |
I169V |
probably damaging |
Het |
| Slc2a6 |
T |
C |
2: 26,914,347 (GRCm39) |
S257G |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,982,627 (GRCm39) |
R612G |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,340,434 (GRCm39) |
T529A |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,851,219 (GRCm39) |
S458G |
probably benign |
Het |
| Zfp729a |
G |
T |
13: 67,769,481 (GRCm39) |
H249Q |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,572 (GRCm39) |
I445T |
possibly damaging |
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 |
|
R8168:Rcc1
|
UTSW |
4 |
132,063,096 (GRCm39) |
missense |
probably benign |
0.38 |
|
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'- GAGAGTCAGTGTCAAAACTGTG -3'
(R):5'- GTGCTTCCGAGTATGAAGGC -3'
Sequencing Primer
(F):5'- GTCAGTGTCAAAACTGTGTCATCTC -3'
(R):5'- AGAGTCTTACCTCCCGTGGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation