Incidental Mutation 'R7331:Rpa1'
| ID |
569246 |
| 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 |
045424-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7331 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75191085-75239478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75203941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 302
(V302A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000767]
[ENSMUST00000092907]
|
| AlphaFold |
Q8VEE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000767
AA Change: V302A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: V302A
| 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 |
probably damaging
Transcript: ENSMUST00000092907
AA Change: V281A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: V281A
| 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 |
0.6025 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,331,728 (GRCm39) |
H47L |
possibly damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,748,484 (GRCm39) |
S438P |
probably damaging |
Het |
| Atg16l2 |
C |
A |
7: 100,948,255 (GRCm39) |
K96N |
probably damaging |
Het |
| Bglap2 |
A |
T |
3: 88,285,567 (GRCm39) |
M35K |
possibly damaging |
Het |
| Btbd1 |
T |
A |
7: 81,465,720 (GRCm39) |
I209L |
probably damaging |
Het |
| Cdc34 |
T |
C |
10: 79,521,146 (GRCm39) |
Y148H |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,575,394 (GRCm39) |
D157G |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,458,021 (GRCm39) |
|
probably null |
Het |
| Ctsj |
G |
A |
13: 61,151,645 (GRCm39) |
S90L |
probably benign |
Het |
| Cycs |
A |
G |
6: 50,542,532 (GRCm39) |
F37L |
probably benign |
Het |
| Dync2li1 |
T |
A |
17: 84,955,086 (GRCm39) |
C248* |
probably null |
Het |
| Dzank1 |
A |
T |
2: 144,332,190 (GRCm39) |
I382N |
probably benign |
Het |
| Eif4a3l2 |
G |
A |
6: 116,529,130 (GRCm39) |
V336I |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,739,066 (GRCm39) |
I406V |
probably damaging |
Het |
| Ero1b |
A |
G |
13: 12,615,015 (GRCm39) |
E282G |
probably damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,457,647 (GRCm39) |
N314K |
possibly damaging |
Het |
| Fbh1 |
A |
T |
2: 11,768,797 (GRCm39) |
C300S |
probably benign |
Het |
| Fchsd1 |
T |
C |
18: 38,101,823 (GRCm39) |
I49V |
possibly damaging |
Het |
| Foxn1 |
A |
G |
11: 78,249,615 (GRCm39) |
Y637H |
probably damaging |
Het |
| Gabarap |
A |
G |
11: 69,885,298 (GRCm39) |
E101G |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,601,792 (GRCm39) |
R22G |
probably damaging |
Het |
| Gm7694 |
A |
T |
1: 170,129,180 (GRCm39) |
D116E |
possibly damaging |
Het |
| Gm9508 |
A |
G |
10: 77,532,629 (GRCm39) |
C147R |
unknown |
Het |
| Gpr152 |
A |
G |
19: 4,192,608 (GRCm39) |
M50V |
probably damaging |
Het |
| Hunk |
T |
A |
16: 90,269,450 (GRCm39) |
N331K |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,162,409 (GRCm39) |
T351A |
probably benign |
Het |
| Iqub |
A |
G |
6: 24,500,393 (GRCm39) |
V287A |
possibly damaging |
Het |
| Lix1 |
A |
T |
17: 17,647,474 (GRCm39) |
T47S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,553,622 (GRCm39) |
|
probably null |
Het |
| Nup107 |
G |
A |
10: 117,606,103 (GRCm39) |
T500I |
probably damaging |
Het |
| Phf21b |
G |
C |
15: 84,675,295 (GRCm39) |
R405G |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,241,101 (GRCm39) |
V709A |
probably damaging |
Het |
| Psme3ip1 |
T |
A |
8: 95,309,564 (GRCm39) |
K143* |
probably null |
Het |
| Rfc1 |
T |
C |
5: 65,468,387 (GRCm39) |
T109A |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,760,517 (GRCm39) |
I1522T |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,594,010 (GRCm39) |
R2578L |
possibly damaging |
Het |
| Scgb2b18 |
C |
T |
7: 32,872,681 (GRCm39) |
W41* |
probably null |
Het |
| Sdccag8 |
C |
G |
1: 176,695,856 (GRCm39) |
Q387E |
possibly damaging |
Het |
| Slc25a17 |
G |
A |
15: 81,213,346 (GRCm39) |
T119M |
probably damaging |
Het |
| Slc45a4 |
G |
T |
15: 73,477,489 (GRCm39) |
Q16K |
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,311,880 (GRCm39) |
T47A |
probably benign |
Het |
| Stard6 |
A |
G |
18: 70,616,553 (GRCm39) |
R71G |
probably damaging |
Het |
| Tecr |
A |
G |
8: 84,298,564 (GRCm39) |
V321A |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,195,218 (GRCm39) |
F290L |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,753,731 (GRCm39) |
V48A |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,308 (GRCm39) |
I258N |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,737,655 (GRCm39) |
E249V |
possibly damaging |
Het |
| Zfp101 |
T |
C |
17: 33,601,559 (GRCm39) |
T66A |
possibly damaging |
Het |
| Zyx |
A |
G |
6: 42,328,593 (GRCm39) |
H230R |
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 |
|
R6762:Rpa1
|
UTSW |
11 |
75,231,171 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
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'- CTTTAAAACACGGCAGGGACG -3'
(R):5'- TCAGAGCTGACAGGCTGAAC -3'
Sequencing Primer
(F):5'- TGGAGACAAAAATCACCACTCTTTG -3'
(R):5'- CTGAACTGTGAGAGCCATGAGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation