Incidental Mutation 'R6762:Rpa1'
| ID |
531753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpa1
|
| Ensembl Gene |
ENSMUSG00000000751 |
| Gene Name |
replication protein A1 |
| Synonyms |
5031405K23Rik, Rpa, RF-A, 70kDa, RP-A |
| MMRRC Submission |
044878-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6762 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75191085-75239478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75231171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 73
(S73C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000767]
[ENSMUST00000092907]
|
| AlphaFold |
Q8VEE4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000767
AA Change: S73C
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: S73C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rep-A_N
|
5 |
93 |
7.2e-30 |
PFAM |
|
low complexity region
|
145 |
175 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
227 |
316 |
5e-13 |
PFAM |
|
Pfam:REPA_OB_2
|
335 |
432 |
5e-37 |
PFAM |
|
Pfam:Rep_fac-A_C
|
491 |
636 |
4.5e-57 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092907
AA Change: S73C
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: S73C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rep-A_N
|
5 |
104 |
4.3e-35 |
PFAM |
|
low complexity region
|
124 |
154 |
N/A |
INTRINSIC |
|
Pfam:tRNA_anti-codon
|
206 |
295 |
8.4e-13 |
PFAM |
|
SCOP:d1fgua2
|
308 |
435 |
8e-46 |
SMART |
|
Pfam:Rep_fac-A_C
|
470 |
615 |
9.2e-56 |
PFAM |
|
| Meta Mutation Damage Score |
0.1077 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic lethality before implantation and impaired cell proliferation. Heterozygous null mice display decreased survival, chromosomal instability, impaired double strand break repair, and develop lymphomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,867 (GRCm39) |
Y27H |
probably benign |
Het |
| Angptl3 |
T |
A |
4: 98,925,654 (GRCm39) |
S327T |
possibly damaging |
Het |
| Arl6ip4 |
GGAAGAAGAAGAAGAAGAA |
GGAAGAAGAAGAAGAAGAAGAA |
5: 124,255,113 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
A |
T |
7: 25,507,495 (GRCm39) |
L318H |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,584,824 (GRCm39) |
L3185P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,263,902 (GRCm39) |
V2128A |
probably benign |
Het |
| Ehhadh |
A |
T |
16: 21,581,209 (GRCm39) |
F594L |
probably benign |
Het |
| En2 |
A |
G |
5: 28,375,351 (GRCm39) |
N298S |
possibly damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,585 (GRCm39) |
N140Y |
probably damaging |
Het |
| Fam151b |
C |
T |
13: 92,604,558 (GRCm39) |
V144I |
possibly damaging |
Het |
| Fanca |
C |
A |
8: 123,998,042 (GRCm39) |
A1215S |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,562,977 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,144,308 (GRCm39) |
|
probably null |
Het |
| Gm4513 |
T |
C |
7: 20,328,118 (GRCm39) |
N31S |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,279,114 (GRCm39) |
I3066F |
possibly damaging |
Het |
| Krt10 |
T |
C |
11: 99,277,883 (GRCm39) |
T355A |
possibly damaging |
Het |
| Lims1 |
C |
A |
10: 58,248,367 (GRCm39) |
H275N |
probably damaging |
Het |
| Map3k19 |
C |
T |
1: 127,775,001 (GRCm39) |
G112D |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,676,786 (GRCm39) |
N619K |
possibly damaging |
Het |
| Mtor |
A |
G |
4: 148,622,938 (GRCm39) |
T1977A |
possibly damaging |
Het |
| Nos2 |
T |
G |
11: 78,850,574 (GRCm39) |
L1144R |
possibly damaging |
Het |
| Or52ae7 |
G |
C |
7: 103,119,596 (GRCm39) |
V117L |
probably benign |
Het |
| Or6c68 |
G |
A |
10: 129,158,125 (GRCm39) |
C211Y |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,188 (GRCm39) |
F205I |
probably benign |
Het |
| Pals2 |
T |
A |
6: 50,157,418 (GRCm39) |
|
probably null |
Het |
| Pcdhga9 |
C |
A |
18: 37,870,321 (GRCm39) |
S50Y |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,024,219 (GRCm39) |
|
probably null |
Het |
| Qtrt1 |
T |
A |
9: 21,323,378 (GRCm39) |
H76Q |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,702 (GRCm39) |
V157A |
probably damaging |
Het |
| Snapc3 |
T |
C |
4: 83,353,495 (GRCm39) |
L178P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,093,633 (GRCm39) |
F1340L |
probably damaging |
Het |
| Srd5a3 |
T |
A |
5: 76,301,398 (GRCm39) |
I85K |
probably benign |
Het |
| Taar2 |
C |
T |
10: 23,817,300 (GRCm39) |
T280M |
probably damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,116,237 (GRCm39) |
D177G |
probably benign |
Het |
| Tpt1 |
A |
G |
14: 76,083,821 (GRCm39) |
D94G |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,954,240 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,763,171 (GRCm39) |
R746H |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,967 (GRCm39) |
D70G |
probably damaging |
Het |
| Ugcg |
T |
A |
4: 59,219,530 (GRCm39) |
I289N |
possibly damaging |
Het |
| Vmn2r2 |
C |
G |
3: 64,041,870 (GRCm39) |
D282H |
probably damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,787,010 (GRCm39) |
N32K |
probably benign |
Het |
| Wdpcp |
C |
T |
11: 21,671,244 (GRCm39) |
T495I |
probably benign |
Het |
| Zfp961 |
T |
A |
8: 72,719,958 (GRCm39) |
C51S |
possibly damaging |
Het |
| Zxdc |
C |
T |
6: 90,359,165 (GRCm39) |
A599V |
probably benign |
Het |
|
| Other mutations in Rpa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Rpa1
|
APN |
11 |
75,203,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01347:Rpa1
|
APN |
11 |
75,198,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02976:Rpa1
|
APN |
11 |
75,203,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03169:Rpa1
|
APN |
11 |
75,192,183 (GRCm39) |
missense |
probably damaging |
0.97 |
|
nonnae
|
UTSW |
11 |
75,205,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
vomica
|
UTSW |
11 |
75,231,171 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
FR4976:Rpa1
|
UTSW |
11 |
75,209,345 (GRCm39) |
small deletion |
probably benign |
|
|
PIT4576001:Rpa1
|
UTSW |
11 |
75,203,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0017:Rpa1
|
UTSW |
11 |
75,205,687 (GRCm39) |
missense |
probably null |
1.00 |
|
R0017:Rpa1
|
UTSW |
11 |
75,205,687 (GRCm39) |
missense |
probably null |
1.00 |
|
R0126:Rpa1
|
UTSW |
11 |
75,209,355 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Rpa1
|
UTSW |
11 |
75,219,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0240:Rpa1
|
UTSW |
11 |
75,219,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0465:Rpa1
|
UTSW |
11 |
75,203,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0718:Rpa1
|
UTSW |
11 |
75,209,227 (GRCm39) |
splice site |
probably benign |
|
|
R0973:Rpa1
|
UTSW |
11 |
75,203,799 (GRCm39) |
splice site |
probably null |
|
|
R1055:Rpa1
|
UTSW |
11 |
75,193,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1172:Rpa1
|
UTSW |
11 |
75,203,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Rpa1
|
UTSW |
11 |
75,203,517 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1883:Rpa1
|
UTSW |
11 |
75,209,309 (GRCm39) |
missense |
probably benign |
|
|
R1975:Rpa1
|
UTSW |
11 |
75,197,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5008:Rpa1
|
UTSW |
11 |
75,204,125 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5279:Rpa1
|
UTSW |
11 |
75,204,170 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6083:Rpa1
|
UTSW |
11 |
75,205,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6161:Rpa1
|
UTSW |
11 |
75,205,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Rpa1
|
UTSW |
11 |
75,201,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6828:Rpa1
|
UTSW |
11 |
75,205,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7044:Rpa1
|
UTSW |
11 |
75,203,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7331:Rpa1
|
UTSW |
11 |
75,203,941 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7798:Rpa1
|
UTSW |
11 |
75,203,635 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7890:Rpa1
|
UTSW |
11 |
75,198,050 (GRCm39) |
frame shift |
probably null |
|
|
R7938:Rpa1
|
UTSW |
11 |
75,198,050 (GRCm39) |
frame shift |
probably null |
|
|
R8116:Rpa1
|
UTSW |
11 |
75,193,501 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8258:Rpa1
|
UTSW |
11 |
75,193,550 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8259:Rpa1
|
UTSW |
11 |
75,193,550 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8837:Rpa1
|
UTSW |
11 |
75,204,167 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9169:Rpa1
|
UTSW |
11 |
75,200,999 (GRCm39) |
nonsense |
probably null |
|
|
R9789:Rpa1
|
UTSW |
11 |
75,203,938 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF018:Rpa1
|
UTSW |
11 |
75,209,343 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAATGTTCGTCTGCATCC -3'
(R):5'- AACAGATACCATTTAGGAAGAGCCTC -3'
Sequencing Primer
(F):5'- GTTCGTCTGCATCCGGCTG -3'
(R):5'- AGAGCCTCAGACTTTTACATGGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation