Incidental Mutation 'R6088:Rcc1'
| ID |
486081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcc1
|
| Ensembl Gene |
ENSMUSG00000028896 |
| Gene Name |
regulator of chromosome condensation 1 |
| Synonyms |
4931417M11Rik, Chc1 |
| MMRRC Submission |
044245-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6088 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132059230-132073061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 132060153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 430
(D430E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030726]
[ENSMUST00000030730]
[ENSMUST00000084250]
[ENSMUST00000105951]
[ENSMUST00000105960]
[ENSMUST00000105962]
[ENSMUST00000125513]
[ENSMUST00000147652]
[ENSMUST00000155129]
[ENSMUST00000137520]
[ENSMUST00000127402]
|
| AlphaFold |
Q8VE37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030726
AA Change: D430E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030726
Gene: ENSMUSG00000028896
AA Change: D430E
| 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: D417E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081271
Gene: ENSMUSG00000028896
AA Change: D417E
| 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: D417E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101571
Gene: ENSMUSG00000028896
AA Change: D417E
| 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 |
noncoding transcript
Transcript: ENSMUST00000146166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141317
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137520
|
| 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 |
|
| Meta Mutation Damage Score |
0.0594 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
G |
T |
18: 59,035,174 (GRCm39) |
V360F |
probably damaging |
Het |
| Ankrd17 |
C |
T |
5: 90,401,547 (GRCm39) |
E1605K |
possibly damaging |
Het |
| Arid4a |
A |
G |
12: 71,069,010 (GRCm39) |
D54G |
probably damaging |
Het |
| Baz2a |
TCTCCTC |
TCTC |
10: 127,950,511 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
G |
A |
17: 28,103,579 (GRCm39) |
|
probably null |
Het |
| Card6 |
A |
T |
15: 5,134,501 (GRCm39) |
V234E |
possibly damaging |
Het |
| Cd1d1 |
G |
T |
3: 86,906,009 (GRCm39) |
Q89K |
probably benign |
Het |
| Ciita |
G |
A |
16: 10,329,795 (GRCm39) |
R693K |
probably damaging |
Het |
| Cox7a2l |
G |
T |
17: 83,811,401 (GRCm39) |
L77I |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 133,803,101 (GRCm39) |
|
probably null |
Het |
| Cts8 |
T |
C |
13: 61,401,780 (GRCm39) |
N39S |
probably benign |
Het |
| Def8 |
G |
T |
8: 124,186,787 (GRCm39) |
E456* |
probably null |
Het |
| Dld |
A |
G |
12: 31,390,988 (GRCm39) |
F153L |
probably benign |
Het |
| Elf1 |
C |
T |
14: 79,804,701 (GRCm39) |
T122I |
probably benign |
Het |
| Emilin2 |
T |
C |
17: 71,562,119 (GRCm39) |
N961S |
probably benign |
Het |
| Esp24 |
A |
G |
17: 39,350,901 (GRCm39) |
I34V |
probably benign |
Het |
| Fam184b |
C |
A |
5: 45,741,354 (GRCm39) |
K292N |
probably damaging |
Het |
| Gabrg3 |
T |
A |
7: 56,634,826 (GRCm39) |
N119I |
probably damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,942,187 (GRCm39) |
H524R |
probably damaging |
Het |
| Kcp |
A |
T |
6: 29,502,631 (GRCm39) |
S205T |
probably benign |
Het |
| Klb |
C |
T |
5: 65,506,356 (GRCm39) |
T201M |
probably benign |
Het |
| Lamp3 |
A |
T |
16: 19,492,148 (GRCm39) |
F365L |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,179,718 (GRCm39) |
H390L |
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,162,884 (GRCm39) |
Y711H |
possibly damaging |
Het |
| Myo5b |
T |
A |
18: 74,853,969 (GRCm39) |
L1196Q |
possibly damaging |
Het |
| Ndufb8 |
A |
G |
19: 44,543,464 (GRCm39) |
S70P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,099,354 (GRCm39) |
D4832G |
probably damaging |
Het |
| Niban2 |
T |
C |
2: 32,813,135 (GRCm39) |
V540A |
probably damaging |
Het |
| Nr5a1 |
T |
C |
2: 38,592,007 (GRCm39) |
D322G |
probably benign |
Het |
| Or1e1d-ps1 |
A |
T |
11: 73,819,649 (GRCm39) |
T273S |
probably benign |
Het |
| Or5ak20 |
T |
A |
2: 85,183,698 (GRCm39) |
S191C |
probably damaging |
Het |
| Oscar |
G |
A |
7: 3,614,311 (GRCm39) |
P143S |
probably benign |
Het |
| Oxa1l |
T |
A |
14: 54,605,151 (GRCm39) |
|
probably null |
Het |
| Pafah2 |
A |
G |
4: 134,140,692 (GRCm39) |
I221V |
probably benign |
Het |
| Pibf1 |
T |
A |
14: 99,416,794 (GRCm39) |
F456I |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,100,487 (GRCm39) |
G615D |
probably damaging |
Het |
| Plekhg2 |
C |
T |
7: 28,060,438 (GRCm39) |
V964I |
probably benign |
Het |
| Ppip5k1 |
C |
A |
2: 121,167,944 (GRCm39) |
V770L |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,922,852 (GRCm39) |
L213Q |
possibly damaging |
Het |
| Ptprf |
G |
A |
4: 118,067,952 (GRCm39) |
T1785I |
possibly damaging |
Het |
| Pycr2 |
G |
A |
1: 180,733,801 (GRCm39) |
G131E |
probably damaging |
Het |
| Rbpj |
C |
T |
5: 53,808,710 (GRCm39) |
|
probably null |
Het |
| Rhbdf1 |
A |
G |
11: 32,162,007 (GRCm39) |
V525A |
possibly damaging |
Het |
| Samd7 |
G |
A |
3: 30,810,632 (GRCm39) |
M216I |
probably benign |
Het |
| Ska3 |
A |
T |
14: 58,054,151 (GRCm39) |
D266E |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,869,641 (GRCm39) |
V569M |
probably damaging |
Het |
| Slc26a1 |
C |
T |
5: 108,821,872 (GRCm39) |
E6K |
possibly damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,345,563 (GRCm39) |
V741E |
probably benign |
Het |
| St6galnac3 |
C |
T |
3: 152,912,352 (GRCm39) |
G164S |
probably damaging |
Het |
| Tgs1 |
T |
A |
4: 3,595,383 (GRCm39) |
N517K |
probably benign |
Het |
| Tns4 |
A |
G |
11: 98,964,546 (GRCm39) |
S522P |
probably damaging |
Het |
| Trpm1 |
A |
T |
7: 63,917,724 (GRCm39) |
M355L |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,234,400 (GRCm39) |
|
probably benign |
Het |
| V1ra8 |
T |
C |
6: 90,180,082 (GRCm39) |
F95S |
probably damaging |
Het |
| Zfp521 |
A |
C |
18: 13,979,166 (GRCm39) |
S416A |
possibly damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,764 (GRCm39) |
V262E |
probably benign |
Het |
| Zfp740 |
T |
A |
15: 102,117,243 (GRCm39) |
I77N |
probably damaging |
Het |
| Zscan18 |
A |
T |
7: 12,509,125 (GRCm39) |
|
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 |
|
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 |
|
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'- ACCAGTATGTTCTAGAAAGAGGACG -3'
(R):5'- ATCTCCTGGTGTGGAAACGC -3'
Sequencing Primer
(F):5'- TGTTCTAGAAAGAGGACGGACGAAAC -3'
(R):5'- CCAAAGATAGCTGCTTCTATTTCTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation