Incidental Mutation 'R7044:Rpa1'
| ID |
547218 |
| 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 |
045143-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7044 (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 C
at 75203628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 358
(D358G)
|
| 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: D358G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: D358G
| 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: D337G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: D337G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
A |
4: 32,815,260 (GRCm39) |
Q448L |
possibly damaging |
Het |
| Appl1 |
A |
G |
14: 26,650,634 (GRCm39) |
S513P |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,134 (GRCm39) |
K1066* |
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,407,946 (GRCm39) |
I824T |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,651,361 (GRCm39) |
D1169N |
possibly damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,831 (GRCm39) |
R35G |
possibly damaging |
Het |
| Dcdc2c |
T |
C |
12: 28,520,493 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,301,634 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
C |
3: 39,064,959 (GRCm39) |
A4972P |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,064,960 (GRCm39) |
A4972V |
probably benign |
Het |
| Fbxl8 |
T |
A |
8: 105,993,647 (GRCm39) |
M1K |
probably null |
Het |
| Glyat |
T |
C |
19: 12,627,629 (GRCm39) |
S75P |
probably benign |
Het |
| Gm3543 |
T |
A |
14: 41,802,023 (GRCm39) |
I154F |
probably damaging |
Het |
| Gm4565 |
T |
A |
7: 22,282,795 (GRCm39) |
M8L |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,240,616 (GRCm39) |
Q269R |
probably benign |
Het |
| Hjv |
C |
A |
3: 96,434,790 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,060 (GRCm39) |
H483R |
possibly damaging |
Het |
| Il25 |
G |
A |
14: 55,170,615 (GRCm39) |
A63T |
probably benign |
Het |
| Krt27 |
T |
A |
11: 99,237,640 (GRCm39) |
N366I |
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,792,268 (GRCm39) |
V219A |
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,407,290 (GRCm39) |
V373A |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,830 (GRCm39) |
N301S |
probably benign |
Het |
| Otulinl |
A |
G |
15: 27,657,321 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,706,607 (GRCm39) |
I231T |
probably damaging |
Het |
| Pfkp |
A |
G |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,286,013 (GRCm39) |
I1084T |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,939,923 (GRCm39) |
C27R |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,044,345 (GRCm39) |
V1266M |
probably damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,226 (GRCm39) |
D35G |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,259,965 (GRCm39) |
S495P |
probably damaging |
Het |
| Surf6 |
A |
G |
2: 26,789,368 (GRCm39) |
I123T |
probably damaging |
Het |
| Sybu |
A |
T |
15: 44,541,091 (GRCm39) |
S324T |
possibly damaging |
Het |
| Trim3 |
A |
T |
7: 105,267,421 (GRCm39) |
S319R |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,466,930 (GRCm39) |
F72L |
probably benign |
Het |
| Tsks |
C |
T |
7: 44,593,216 (GRCm39) |
R61W |
probably damaging |
Het |
| Ube2k |
T |
C |
5: 65,738,772 (GRCm39) |
V36A |
possibly damaging |
Het |
| Ube3a |
T |
C |
7: 58,938,161 (GRCm39) |
V688A |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,610,080 (GRCm39) |
K79E |
possibly damaging |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,761 (GRCm39) |
R179Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,134,629 (GRCm39) |
F16I |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,841,248 (GRCm39) |
|
probably benign |
Het |
| Zfp600 |
C |
T |
4: 146,131,892 (GRCm39) |
Q187* |
probably null |
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 |
|
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'- ACTGGATAGCACAACTCCCTGAG -3'
(R):5'- TTTCACAGGGATCGGTGACC -3'
Sequencing Primer
(F):5'- GATAGCACAACTCCCTGAGCTAAAG -3'
(R):5'- ACTAGTAGGTGCGTCCAGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation