Incidental Mutation 'R5627:Rcc1'
ID |
441879 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rcc1
|
Ensembl Gene |
ENSMUSG00000028896 |
Gene Name |
regulator of chromosome condensation 1 |
Synonyms |
4931417M11Rik, Chc1 |
MMRRC Submission |
043166-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.972)
|
Stock # |
R5627 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
132059230-132073061 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132065454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 57
(R57G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030726]
[ENSMUST00000084250]
[ENSMUST00000105951]
[ENSMUST00000155129]
|
AlphaFold |
Q8VE37 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030726
AA Change: R70G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000030726 Gene: ENSMUSG00000028896 AA Change: R70G
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 damaging
Transcript: ENSMUST00000084250
AA Change: R57G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000081271 Gene: ENSMUSG00000028896 AA Change: R57G
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: R57G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101571 Gene: ENSMUSG00000028896 AA Change: R57G
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 |
noncoding transcript
Transcript: ENSMUST00000131307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137238
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155129
AA Change: R57G
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000120701 Gene: ENSMUSG00000028896 AA Change: R57G
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 |
noncoding transcript
Transcript: ENSMUST00000155194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156710
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Abl1 |
T |
C |
2: 31,690,595 (GRCm39) |
W705R |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,474,296 (GRCm39) |
V569D |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,587,298 (GRCm39) |
N425S |
possibly damaging |
Het |
Atad2b |
A |
G |
12: 4,967,911 (GRCm39) |
D68G |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,511,604 (GRCm39) |
I173T |
probably damaging |
Het |
Cenpe |
G |
T |
3: 134,941,234 (GRCm39) |
L716F |
possibly damaging |
Het |
Cep85 |
A |
T |
4: 133,861,408 (GRCm39) |
L622Q |
probably damaging |
Het |
Cep97 |
A |
G |
16: 55,745,330 (GRCm39) |
|
probably null |
Het |
Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
Chil5 |
A |
G |
3: 105,926,951 (GRCm39) |
L228P |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,853,767 (GRCm39) |
E265G |
probably damaging |
Het |
Col3a1 |
T |
C |
1: 45,370,720 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
T |
A |
5: 146,049,664 (GRCm39) |
D497E |
probably benign |
Het |
Egfem1 |
G |
T |
3: 29,722,548 (GRCm39) |
E175* |
probably null |
Het |
Eif4g2 |
A |
G |
7: 110,673,446 (GRCm39) |
Y778H |
probably benign |
Het |
Fam98b |
T |
C |
2: 117,098,414 (GRCm39) |
C295R |
probably damaging |
Het |
Gm3149 |
A |
T |
14: 15,702,790 (GRCm39) |
I246L |
probably benign |
Het |
Gm5134 |
A |
G |
10: 75,821,942 (GRCm39) |
T259A |
possibly damaging |
Het |
Gm5150 |
A |
G |
3: 16,017,564 (GRCm39) |
Y236H |
probably damaging |
Het |
Golga2 |
C |
A |
2: 32,196,059 (GRCm39) |
Y864* |
probably null |
Het |
Inpp4a |
A |
G |
1: 37,406,854 (GRCm39) |
D199G |
probably damaging |
Het |
Inpp4b |
T |
C |
8: 82,470,445 (GRCm39) |
|
probably benign |
Het |
Kremen1 |
T |
C |
11: 5,149,709 (GRCm39) |
T321A |
probably benign |
Het |
Map3k3 |
A |
G |
11: 106,039,428 (GRCm39) |
S250G |
probably benign |
Het |
Mtmr10 |
A |
T |
7: 63,986,500 (GRCm39) |
K526M |
probably damaging |
Het |
Nbea |
C |
T |
3: 55,899,766 (GRCm39) |
C1461Y |
probably damaging |
Het |
Nckap5l |
A |
T |
15: 99,325,587 (GRCm39) |
N305K |
possibly damaging |
Het |
Nup210l |
A |
T |
3: 90,051,557 (GRCm39) |
Y567F |
probably damaging |
Het |
Or11g26 |
A |
G |
14: 50,753,257 (GRCm39) |
M199V |
probably benign |
Het |
Or14c39 |
G |
T |
7: 86,344,347 (GRCm39) |
V228F |
possibly damaging |
Het |
Or4a70 |
A |
T |
2: 89,324,388 (GRCm39) |
N89K |
probably benign |
Het |
Or56b2 |
G |
A |
7: 104,337,377 (GRCm39) |
V52M |
probably benign |
Het |
Or5b96 |
T |
A |
19: 12,867,663 (GRCm39) |
I93F |
probably damaging |
Het |
Or5g25 |
T |
A |
2: 85,477,991 (GRCm39) |
I225F |
probably damaging |
Het |
Rfx7 |
C |
T |
9: 72,440,066 (GRCm39) |
|
probably benign |
Het |
Saraf |
T |
A |
8: 34,621,799 (GRCm39) |
M1K |
probably null |
Het |
Serpinb9d |
C |
T |
13: 33,386,676 (GRCm39) |
T248I |
probably damaging |
Het |
Slc38a6 |
A |
G |
12: 73,390,457 (GRCm39) |
I254M |
possibly damaging |
Het |
Slc6a5 |
A |
G |
7: 49,561,522 (GRCm39) |
D18G |
possibly damaging |
Het |
Supt20 |
A |
G |
3: 54,620,611 (GRCm39) |
D389G |
possibly damaging |
Het |
Tecpr2 |
T |
A |
12: 110,907,916 (GRCm39) |
I1001K |
probably damaging |
Het |
Vcan |
CAAAA |
CAA |
13: 89,839,254 (GRCm39) |
|
probably null |
Het |
Wdr36 |
T |
A |
18: 32,994,691 (GRCm39) |
D717E |
possibly damaging |
Het |
Zfp318 |
T |
C |
17: 46,724,062 (GRCm39) |
S2022P |
probably 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 |
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 |
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'- TAACACAAAGCCTGGCCCTG -3'
(R):5'- GATCCATTTCACTGTGTGGCG -3'
Sequencing Primer
(F):5'- CTGTGGCCTCCTTGCTTAGG -3'
(R):5'- GTCATCCTCTGTTCACAAAGGGAG -3'
|
Posted On |
2016-11-08 |