Incidental Mutation 'IGL01347:Rpa1'
| ID |
75121 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rpa1
|
| Ensembl Gene |
ENSMUSG00000000751 |
| Gene Name |
replication protein A1 |
| Synonyms |
5031405K23Rik, Rpa, RF-A, 70kDa, RP-A |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75191085-75239478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75198111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 470
(Y470H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000767]
[ENSMUST00000092907]
|
| AlphaFold |
Q8VEE4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000767
AA Change: Y491H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: Y491H
| 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: Y470H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: Y470H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135770
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
A |
T |
6: 48,909,477 (GRCm39) |
Y574F |
probably benign |
Het |
| Apc |
C |
T |
18: 34,450,723 (GRCm39) |
P2506S |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,206,711 (GRCm39) |
K610N |
possibly damaging |
Het |
| Bri3bp |
T |
G |
5: 125,531,581 (GRCm39) |
C176G |
probably damaging |
Het |
| Carnmt1 |
A |
G |
19: 18,668,818 (GRCm39) |
I248V |
probably benign |
Het |
| Ccdc88b |
A |
G |
19: 6,822,454 (GRCm39) |
L1475P |
probably damaging |
Het |
| Cfap100 |
C |
T |
6: 90,383,103 (GRCm39) |
V511M |
possibly damaging |
Het |
| Chchd3 |
T |
C |
6: 32,780,838 (GRCm39) |
N78S |
probably benign |
Het |
| Cnnm4 |
G |
A |
1: 36,537,115 (GRCm39) |
E480K |
possibly damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,500,978 (GRCm39) |
I385F |
possibly damaging |
Het |
| D930048N14Rik |
T |
A |
11: 51,545,615 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
A |
T |
16: 22,419,340 (GRCm39) |
D53E |
probably benign |
Het |
| Dlx3 |
T |
A |
11: 95,011,359 (GRCm39) |
L71H |
probably damaging |
Het |
| Egln2 |
A |
C |
7: 26,859,717 (GRCm39) |
V332G |
probably null |
Het |
| Entpd2 |
A |
G |
2: 25,288,746 (GRCm39) |
Q250R |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,510,593 (GRCm39) |
D132G |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,543,114 (GRCm39) |
D637G |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,596,708 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
G |
A |
5: 105,479,194 (GRCm39) |
|
probably benign |
Het |
| Gm17175 |
A |
T |
14: 51,808,307 (GRCm39) |
C162S |
probably damaging |
Het |
| Gm5499 |
C |
T |
17: 87,386,339 (GRCm39) |
|
noncoding transcript |
Het |
| Gps1 |
T |
C |
11: 120,679,086 (GRCm39) |
V378A |
probably benign |
Het |
| Grik1 |
C |
T |
16: 87,754,481 (GRCm39) |
R368Q |
probably benign |
Het |
| Gsap |
A |
G |
5: 21,431,318 (GRCm39) |
E214G |
probably benign |
Het |
| H2bc13 |
A |
G |
13: 21,900,064 (GRCm39) |
Y84H |
probably damaging |
Het |
| Jdp2 |
T |
C |
12: 85,655,020 (GRCm39) |
S28P |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,698,240 (GRCm39) |
F577S |
probably damaging |
Het |
| Kl |
G |
A |
5: 150,904,130 (GRCm39) |
G294D |
probably damaging |
Het |
| Lgsn |
T |
A |
1: 31,243,041 (GRCm39) |
D374E |
probably damaging |
Het |
| Lman1 |
T |
C |
18: 66,124,681 (GRCm39) |
I353V |
probably damaging |
Het |
| Lmna |
T |
C |
3: 88,392,270 (GRCm39) |
H374R |
probably benign |
Het |
| Lrrc57 |
A |
G |
2: 120,439,286 (GRCm39) |
S31P |
probably benign |
Het |
| Lum |
T |
A |
10: 97,404,547 (GRCm39) |
N147K |
probably damaging |
Het |
| Or6n2 |
T |
C |
1: 173,897,632 (GRCm39) |
I256T |
probably benign |
Het |
| Or7a41 |
A |
G |
10: 78,871,445 (GRCm39) |
T272A |
probably benign |
Het |
| P4ha3 |
C |
A |
7: 99,955,140 (GRCm39) |
L332I |
probably damaging |
Het |
| Pelp1 |
A |
G |
11: 70,286,505 (GRCm39) |
I541T |
probably damaging |
Het |
| Pja2 |
A |
C |
17: 64,620,023 (GRCm39) |
S2A |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,268 (GRCm39) |
L325P |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 74,149,744 (GRCm39) |
D28G |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,434,645 (GRCm39) |
N430S |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,414,538 (GRCm39) |
I62L |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,391,507 (GRCm39) |
K62* |
probably null |
Het |
| Sec23ip |
T |
C |
7: 128,364,129 (GRCm39) |
V469A |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,991,544 (GRCm39) |
T663A |
unknown |
Het |
| Slco1a7 |
A |
T |
6: 141,700,192 (GRCm39) |
Y113* |
probably null |
Het |
| Stab2 |
G |
T |
10: 86,737,567 (GRCm39) |
|
probably null |
Het |
| Tmcc3 |
T |
C |
10: 94,418,147 (GRCm39) |
L305P |
probably damaging |
Het |
| Tmem145 |
A |
G |
7: 25,014,260 (GRCm39) |
N458S |
probably damaging |
Het |
| Tpr |
G |
A |
1: 150,302,738 (GRCm39) |
R1412Q |
probably damaging |
Het |
| Wdr1 |
A |
T |
5: 38,703,058 (GRCm39) |
F173I |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,104,380 (GRCm39) |
V898I |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,547,899 (GRCm39) |
L145F |
probably benign |
Het |
| Wnt10b |
A |
G |
15: 98,674,826 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,298,957 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation