Incidental Mutation 'R6161:Rpa1'
| ID |
489883 |
| 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 |
044308-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6161 (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 75205721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 212
(V212A)
|
| 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: V233A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: V233A
| 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: V212A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: V212A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198372
|
| Meta Mutation Damage Score |
0.7989 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (54/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,139,934 (GRCm39) |
K1533M |
probably damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,356,202 (GRCm39) |
V63I |
probably benign |
Het |
| Atr |
A |
G |
9: 95,747,372 (GRCm39) |
H218R |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,408,662 (GRCm39) |
S275T |
possibly damaging |
Het |
| Cacna1c |
T |
C |
6: 119,034,263 (GRCm39) |
K88R |
probably damaging |
Het |
| Ccl7 |
T |
C |
11: 81,937,412 (GRCm39) |
Y49H |
probably damaging |
Het |
| Cers5 |
A |
G |
15: 99,636,544 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,071,076 (GRCm39) |
E543G |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,697,043 (GRCm39) |
V1318A |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,512 (GRCm39) |
H475R |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,288,818 (GRCm39) |
L235P |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,211,721 (GRCm39) |
C892* |
probably null |
Het |
| Fbxw8 |
T |
C |
5: 118,230,740 (GRCm39) |
T354A |
possibly damaging |
Het |
| Fsip2 |
A |
C |
2: 82,817,601 (GRCm39) |
T4445P |
possibly damaging |
Het |
| Gpld1 |
A |
T |
13: 25,155,397 (GRCm39) |
Q344L |
probably benign |
Het |
| Hao1 |
A |
T |
2: 134,347,545 (GRCm39) |
D253E |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,246,266 (GRCm39) |
D745G |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,793,397 (GRCm39) |
T658A |
probably benign |
Het |
| Klhl35 |
A |
G |
7: 99,122,544 (GRCm39) |
|
probably benign |
Het |
| Lnx2 |
C |
T |
5: 146,978,836 (GRCm39) |
|
probably null |
Het |
| Map3k5 |
T |
C |
10: 19,876,321 (GRCm39) |
V160A |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,698,469 (GRCm39) |
I517F |
possibly damaging |
Het |
| Mc4r |
A |
T |
18: 66,992,251 (GRCm39) |
Y287* |
probably null |
Het |
| Mthfr |
A |
G |
4: 148,126,211 (GRCm39) |
D94G |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,559,114 (GRCm39) |
I2393T |
unknown |
Het |
| Mybbp1a |
G |
T |
11: 72,336,838 (GRCm39) |
V557L |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,536,183 (GRCm39) |
W256R |
probably damaging |
Het |
| Nacad |
G |
A |
11: 6,550,902 (GRCm39) |
S763L |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,735,641 (GRCm39) |
V11A |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,358,743 (GRCm39) |
C1363S |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,909,105 (GRCm39) |
N772D |
probably benign |
Het |
| Nqo2 |
G |
A |
13: 34,163,634 (GRCm39) |
V98M |
probably damaging |
Het |
| Pak4 |
A |
G |
7: 28,264,692 (GRCm39) |
I70T |
possibly damaging |
Het |
| Pbx2 |
A |
G |
17: 34,812,574 (GRCm39) |
K2E |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,255,202 (GRCm39) |
T352A |
probably benign |
Het |
| Polr1g |
G |
A |
7: 19,091,558 (GRCm39) |
T183I |
possibly damaging |
Het |
| Pop1 |
T |
C |
15: 34,526,456 (GRCm39) |
Y684H |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,768,536 (GRCm39) |
E458G |
probably damaging |
Het |
| Sin3a |
T |
C |
9: 57,002,708 (GRCm39) |
V200A |
possibly damaging |
Het |
| Sla |
T |
C |
15: 66,654,447 (GRCm39) |
T280A |
probably null |
Het |
| Slc22a26 |
A |
T |
19: 7,763,812 (GRCm39) |
I406K |
possibly damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,844,545 (GRCm39) |
N606S |
unknown |
Het |
| Slc39a10 |
G |
A |
1: 46,866,567 (GRCm39) |
T443M |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,762,553 (GRCm39) |
|
probably benign |
Het |
| Sra1 |
G |
A |
18: 36,803,336 (GRCm39) |
A9V |
probably damaging |
Het |
| Stard4 |
A |
G |
18: 33,342,109 (GRCm39) |
V47A |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,113,836 (GRCm39) |
D182V |
possibly damaging |
Het |
| Syt1 |
A |
G |
10: 108,467,668 (GRCm39) |
F210L |
probably damaging |
Het |
| Ube2q1 |
T |
A |
3: 89,688,667 (GRCm39) |
|
probably null |
Het |
| Vmn1r159 |
C |
T |
7: 22,542,612 (GRCm39) |
C140Y |
possibly damaging |
Het |
| Wnt8a |
T |
C |
18: 34,678,599 (GRCm39) |
F138L |
possibly damaging |
Het |
| Zfp623 |
T |
A |
15: 75,820,470 (GRCm39) |
D475E |
probably benign |
Het |
| Zfp646 |
C |
T |
7: 127,477,897 (GRCm39) |
R25W |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATAGCATCAAAGGTCTCCAACAG -3'
(R):5'- CAAACCTGTTTGTCATCTTGGGG -3'
Sequencing Primer
(F):5'- ACAATGACCGCCATGTTCCTC -3'
(R):5'- TGTCATCTTGGGGTTTTAATTAGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation