Incidental Mutation 'R6698:Rcc2'
| ID |
528647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcc2
|
| Ensembl Gene |
ENSMUSG00000040945 |
| Gene Name |
regulator of chromosome condensation 2 |
| Synonyms |
2610529N02Rik, 2610510H01Rik, Td60 |
| MMRRC Submission |
044816-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6698 (G1)
|
| Quality Score |
96.5136 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
140427852-140450531 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140429586 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 40
(C40Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038893]
[ENSMUST00000071169]
[ENSMUST00000138808]
|
| AlphaFold |
Q8BK67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038893
AA Change: C40Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038144
Gene: ENSMUSG00000040945
AA Change: C40Y
| 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 benign
Transcript: ENSMUST00000071169
AA Change: C40Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000071163
Gene: ENSMUSG00000040945
AA Change: C40Y
| 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 |
probably benign
Transcript: ENSMUST00000138808
AA Change: C40Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117448
Gene: ENSMUSG00000040945
AA Change: C40Y
| 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 |
|
low complexity region
|
144 |
155 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brca2 |
T |
C |
5: 150,455,859 (GRCm39) |
V200A |
probably damaging |
Het |
| Camk2g |
T |
A |
14: 20,792,776 (GRCm39) |
K393* |
probably null |
Het |
| Catsperb |
T |
A |
12: 101,475,466 (GRCm39) |
F337I |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,811,374 (GRCm39) |
N715I |
unknown |
Het |
| Fancg |
A |
G |
4: 43,007,034 (GRCm39) |
S248P |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,929 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gabrp |
A |
G |
11: 33,507,017 (GRCm39) |
S198P |
probably damaging |
Het |
| Gask1b |
A |
G |
3: 79,843,902 (GRCm39) |
I10V |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,155,375 (GRCm39) |
Y454C |
probably damaging |
Het |
| Gpr158 |
A |
C |
2: 21,831,921 (GRCm39) |
D1007A |
probably damaging |
Het |
| Gsdmc3 |
A |
G |
15: 63,732,120 (GRCm39) |
F302S |
possibly damaging |
Het |
| Gsdmc4 |
T |
A |
15: 63,765,613 (GRCm39) |
D312V |
probably benign |
Het |
| Itga5 |
T |
C |
15: 103,259,808 (GRCm39) |
Y663C |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,359,413 (GRCm39) |
M108K |
probably damaging |
Het |
| Klf11 |
T |
G |
12: 24,703,618 (GRCm39) |
S18A |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,737 (GRCm39) |
V819A |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,211,732 (GRCm39) |
M451V |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,192,958 (GRCm39) |
D488G |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,163,362 (GRCm39) |
N589S |
probably benign |
Het |
| Mis12 |
T |
C |
11: 70,916,012 (GRCm39) |
F15S |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,177,104 (GRCm39) |
W3R |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,089,815 (GRCm39) |
S1194N |
possibly damaging |
Het |
| Or13m2-ps1 |
A |
T |
6: 42,778,136 (GRCm39) |
T154S |
probably benign |
Het |
| Or5d20-ps1 |
A |
G |
2: 87,931,561 (GRCm39) |
F257L |
unknown |
Het |
| Pnkd |
T |
A |
1: 74,389,836 (GRCm39) |
L320Q |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,286,183 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,139,330 (GRCm39) |
I208T |
possibly damaging |
Het |
| Skint4 |
G |
T |
4: 111,977,096 (GRCm39) |
C170F |
probably damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,290,804 (GRCm39) |
I106N |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,711,211 (GRCm39) |
Y991C |
probably damaging |
Het |
| Trib3 |
A |
G |
2: 152,180,339 (GRCm39) |
S285P |
probably damaging |
Het |
| Wdr49 |
A |
T |
3: 75,336,673 (GRCm39) |
W345R |
probably benign |
Het |
| Wnt5a |
A |
G |
14: 28,240,420 (GRCm39) |
Y190C |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,244,040 (GRCm39) |
E955G |
probably benign |
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 |
|
|
R5767:Rcc2
|
UTSW |
4 |
140,443,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CCACGAAAGTTCCTCTTTTCG -3'
(R):5'- ACTGGCTCCCCGGAGTTC -3'
Sequencing Primer
(F):5'- AAAGTTCCTCTTTTCGCGCGTG -3'
(R):5'- TCCCCGGAGTTCCCCCG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation