Incidental Mutation 'R6456:Rcc1'
| ID |
520165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcc1
|
| Ensembl Gene |
ENSMUSG00000028896 |
| Gene Name |
regulator of chromosome condensation 1 |
| Synonyms |
4931417M11Rik, Chc1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6456 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132059230-132073061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132061427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 361
(S361P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030726]
[ENSMUST00000030730]
[ENSMUST00000084250]
[ENSMUST00000105951]
[ENSMUST00000105960]
[ENSMUST00000105962]
[ENSMUST00000125513]
[ENSMUST00000127402]
[ENSMUST00000137520]
[ENSMUST00000155129]
[ENSMUST00000147652]
|
| AlphaFold |
Q8VE37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030726
AA Change: S374P
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030726
Gene: ENSMUSG00000028896
AA Change: S374P
| 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 benign
Transcript: ENSMUST00000084250
AA Change: S361P
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000081271
Gene: ENSMUSG00000028896
AA Change: S361P
| 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: S361P
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101571
Gene: ENSMUSG00000028896
AA Change: S361P
| 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 |
noncoding transcript
Transcript: ENSMUST00000146166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131524
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141317
|
| 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 |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000155194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150959
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,240,474 (GRCm39) |
H779L |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,850,984 (GRCm39) |
V2097A |
probably null |
Het |
| Adam8 |
A |
G |
7: 139,566,701 (GRCm39) |
S524P |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,170,207 (GRCm39) |
M575T |
probably damaging |
Het |
| Arhgap42 |
T |
A |
9: 9,005,823 (GRCm39) |
I736L |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,736,284 (GRCm39) |
N789S |
probably benign |
Het |
| Bmi1 |
A |
G |
2: 18,687,058 (GRCm39) |
Y46C |
probably damaging |
Het |
| Brd10 |
G |
A |
19: 29,693,914 (GRCm39) |
P1860S |
possibly damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cd180 |
C |
T |
13: 102,839,344 (GRCm39) |
L76F |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,739,571 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,822,676 (GRCm39) |
T227I |
unknown |
Het |
| Cyp4a29 |
G |
T |
4: 115,108,381 (GRCm39) |
M368I |
probably benign |
Het |
| Ddx28 |
T |
A |
8: 106,737,000 (GRCm39) |
I353F |
possibly damaging |
Het |
| Dhx40 |
G |
A |
11: 86,675,800 (GRCm39) |
T198M |
probably damaging |
Het |
| Dnai4 |
A |
C |
4: 102,906,746 (GRCm39) |
M689R |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,922,779 (GRCm39) |
S323G |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,038,128 (GRCm39) |
V3927M |
possibly damaging |
Het |
| Garin1b |
A |
G |
6: 29,334,045 (GRCm39) |
N299S |
probably benign |
Het |
| Gm10226 |
G |
T |
17: 21,910,932 (GRCm39) |
G56* |
probably null |
Het |
| H2-T15 |
A |
T |
17: 36,367,502 (GRCm39) |
Y279N |
probably damaging |
Het |
| Itsn2 |
T |
G |
12: 4,679,923 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
A |
G |
2: 30,145,486 (GRCm39) |
D100G |
probably benign |
Het |
| Madd |
T |
C |
2: 91,008,536 (GRCm39) |
H122R |
probably benign |
Het |
| Mfsd4b3-ps |
C |
G |
10: 39,823,316 (GRCm39) |
V315L |
probably benign |
Het |
| Mki67 |
C |
G |
7: 135,301,204 (GRCm39) |
A1277P |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,703 (GRCm39) |
N872K |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,195,851 (GRCm39) |
T274A |
probably benign |
Het |
| Nrm |
A |
T |
17: 36,176,292 (GRCm39) |
|
probably null |
Het |
| Or10j2 |
A |
T |
1: 173,098,105 (GRCm39) |
D121V |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,099,706 (GRCm39) |
L187F |
probably damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,548 (GRCm39) |
I242T |
probably damaging |
Het |
| Plch2 |
C |
A |
4: 155,077,459 (GRCm39) |
D535Y |
probably damaging |
Het |
| Pmpca |
T |
A |
2: 26,285,179 (GRCm39) |
I468N |
probably damaging |
Het |
| Prpf4 |
T |
C |
4: 62,332,869 (GRCm39) |
|
probably null |
Het |
| Rigi |
T |
A |
4: 40,213,838 (GRCm39) |
N607Y |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,350,792 (GRCm39) |
I3876V |
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,551,050 (GRCm39) |
Q715L |
probably damaging |
Het |
| Sall2 |
G |
A |
14: 52,551,051 (GRCm39) |
Q713* |
probably null |
Het |
| Sin3a |
A |
G |
9: 57,020,985 (GRCm39) |
S1004G |
possibly damaging |
Het |
| Sltm |
C |
T |
9: 70,450,269 (GRCm39) |
T23M |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,724,250 (GRCm39) |
H310L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,428,740 (GRCm39) |
E385G |
probably benign |
Het |
| Syne3 |
G |
T |
12: 104,906,963 (GRCm39) |
R775S |
possibly damaging |
Het |
| Szt2 |
A |
T |
4: 118,233,894 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,112,099 (GRCm39) |
S151P |
probably benign |
Het |
| Trabd2b |
C |
T |
4: 114,443,757 (GRCm39) |
R305C |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,018,675 (GRCm39) |
Q1244R |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,357 (GRCm39) |
N245S |
probably benign |
Het |
| Wdr64 |
G |
A |
1: 175,613,175 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,915,118 (GRCm39) |
T550M |
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 |
|
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 |
|
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'- AAACATGCCAGAGCGTCTG -3'
(R):5'- AGTTGTGTAGAGTCTTACCTCCC -3'
Sequencing Primer
(F):5'- CTGAGAGTCAGTGTCAAAACTGTGTC -3'
(R):5'- AGAGTCTTACCTCCCGTGGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation