Incidental Mutation 'R5767:Rcc2'
| ID |
446321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcc2
|
| Ensembl Gene |
ENSMUSG00000040945 |
| Gene Name |
regulator of chromosome condensation 2 |
| Synonyms |
2610529N02Rik, 2610510H01Rik, Td60 |
| MMRRC Submission |
043367-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140427852-140450531 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140443230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 303
(C303S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038893]
[ENSMUST00000071169]
|
| AlphaFold |
Q8BK67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038893
AA Change: C303S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038144
Gene: ENSMUSG00000040945
AA Change: C303S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
87 |
N/A |
INTRINSIC |
|
Pfam:RCC1_2
|
148 |
179 |
6.5e-8 |
PFAM |
|
Pfam:RCC1
|
166 |
215 |
2.7e-18 |
PFAM |
|
Pfam:RCC1_2
|
202 |
231 |
5.4e-10 |
PFAM |
|
Pfam:RCC1
|
218 |
267 |
8.5e-14 |
PFAM |
|
Pfam:RCC1
|
270 |
343 |
2.9e-13 |
PFAM |
|
Pfam:RCC1_2
|
330 |
359 |
6.2e-9 |
PFAM |
|
Pfam:RCC1
|
347 |
397 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071169
AA Change: C303S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071163
Gene: ENSMUSG00000040945
AA Change: C303S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
87 |
N/A |
INTRINSIC |
|
Pfam:RCC1_2
|
148 |
179 |
6.1e-8 |
PFAM |
|
Pfam:RCC1
|
166 |
215 |
4.1e-19 |
PFAM |
|
Pfam:RCC1_2
|
202 |
231 |
5.1e-10 |
PFAM |
|
Pfam:RCC1
|
218 |
267 |
1.6e-12 |
PFAM |
|
Pfam:RCC1
|
270 |
343 |
7.5e-13 |
PFAM |
|
Pfam:RCC1_2
|
330 |
359 |
1.3e-8 |
PFAM |
|
Pfam:RCC1
|
347 |
397 |
2.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175330
|
| Meta Mutation Damage Score |
0.2469 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
A |
T |
10: 89,562,617 (GRCm39) |
D87E |
probably damaging |
Het |
| AI429214 |
TCCCTGATGAAC |
TC |
8: 37,461,383 (GRCm39) |
|
probably null |
Het |
| Ano3 |
A |
T |
2: 110,491,616 (GRCm39) |
Y887N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,106,867 (GRCm39) |
D313G |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,887,923 (GRCm39) |
V20A |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,623,061 (GRCm39) |
D312G |
possibly damaging |
Het |
| C2 |
T |
A |
17: 35,095,432 (GRCm39) |
N171I |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 107,395,187 (GRCm39) |
N865K |
probably damaging |
Het |
| Cep89 |
T |
A |
7: 35,117,070 (GRCm39) |
V224E |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,436,584 (GRCm39) |
V1038I |
probably benign |
Het |
| Dennd2d |
C |
T |
3: 106,395,131 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,986,408 (GRCm39) |
K1157N |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,549 (GRCm39) |
L584* |
probably null |
Het |
| Exoc4 |
G |
A |
6: 33,895,367 (GRCm39) |
A795T |
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,731,468 (GRCm39) |
I242N |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,041,090 (GRCm39) |
H394R |
probably damaging |
Het |
| Gm27013 |
C |
T |
6: 130,652,921 (GRCm39) |
C847Y |
possibly damaging |
Het |
| Ifna5 |
C |
A |
4: 88,754,036 (GRCm39) |
T92K |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,807,800 (GRCm39) |
M674V |
probably benign |
Het |
| Itga2 |
C |
T |
13: 114,976,106 (GRCm39) |
V1089M |
possibly damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,922 (GRCm39) |
Y170F |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,843,039 (GRCm39) |
N45D |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,496,901 (GRCm39) |
K420E |
possibly damaging |
Het |
| Ms4a14 |
G |
T |
19: 11,279,391 (GRCm39) |
Q1056K |
probably benign |
Het |
| Or11g1 |
T |
C |
14: 50,651,235 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or5k8 |
T |
C |
16: 58,644,316 (GRCm39) |
Y252C |
probably benign |
Het |
| Or8k21 |
T |
A |
2: 86,144,742 (GRCm39) |
E296V |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,381,185 (GRCm39) |
E571G |
probably benign |
Het |
| Pmel |
T |
C |
10: 128,550,250 (GRCm39) |
V95A |
probably damaging |
Het |
| Ptger2 |
G |
T |
14: 45,226,599 (GRCm39) |
G60C |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,312,647 (GRCm39) |
S1122R |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,003,732 (GRCm39) |
D309G |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpini1 |
C |
T |
3: 75,520,388 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
G |
T |
1: 58,058,819 (GRCm39) |
E1133* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Smarcc1 |
G |
A |
9: 109,961,251 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,483,518 (GRCm39) |
E749G |
probably benign |
Het |
| Tmc3 |
G |
A |
7: 83,249,190 (GRCm39) |
A260T |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,550 (GRCm39) |
Y54C |
probably damaging |
Het |
| Urb1 |
T |
A |
16: 90,573,051 (GRCm39) |
M994L |
probably benign |
Het |
| Usp14 |
A |
T |
18: 10,009,935 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,641,928 (GRCm39) |
Y2233C |
probably damaging |
Het |
| Wnt2 |
G |
T |
6: 17,990,027 (GRCm39) |
A290E |
probably damaging |
Het |
| Zc3h8 |
A |
T |
2: 128,772,812 (GRCm39) |
C225* |
probably null |
Het |
|
| Other mutations in Rcc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02040:Rcc2
|
APN |
4 |
140,447,902 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02486:Rcc2
|
APN |
4 |
140,437,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Rcc2
|
UTSW |
4 |
140,448,460 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0637:Rcc2
|
UTSW |
4 |
140,445,055 (GRCm39) |
splice site |
probably benign |
|
|
R1856:Rcc2
|
UTSW |
4 |
140,447,915 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2107:Rcc2
|
UTSW |
4 |
140,448,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Rcc2
|
UTSW |
4 |
140,444,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Rcc2
|
UTSW |
4 |
140,444,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Rcc2
|
UTSW |
4 |
140,444,977 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5229:Rcc2
|
UTSW |
4 |
140,444,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Rcc2
|
UTSW |
4 |
140,447,877 (GRCm39) |
nonsense |
probably null |
|
|
R5840:Rcc2
|
UTSW |
4 |
140,439,449 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5909:Rcc2
|
UTSW |
4 |
140,444,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Rcc2
|
UTSW |
4 |
140,444,335 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6698:Rcc2
|
UTSW |
4 |
140,429,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7086:Rcc2
|
UTSW |
4 |
140,435,280 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7252:Rcc2
|
UTSW |
4 |
140,429,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7393:Rcc2
|
UTSW |
4 |
140,444,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Rcc2
|
UTSW |
4 |
140,429,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8055:Rcc2
|
UTSW |
4 |
140,429,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8056:Rcc2
|
UTSW |
4 |
140,429,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8057:Rcc2
|
UTSW |
4 |
140,429,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8058:Rcc2
|
UTSW |
4 |
140,429,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8501:Rcc2
|
UTSW |
4 |
140,443,237 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9200:Rcc2
|
UTSW |
4 |
140,445,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9337:Rcc2
|
UTSW |
4 |
140,445,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Rcc2
|
UTSW |
4 |
140,429,702 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9767:Rcc2
|
UTSW |
4 |
140,435,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGTGTTAGGTACCAGCTTG -3'
(R):5'- GTCTGCAAGTTGTCTGCAGAGG -3'
Sequencing Primer
(F):5'- CTTGTGAGCAACTGGGCAGAC -3'
(R):5'- TCAGCCAAATGACATAGCTTGAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation