Incidental Mutation 'R6794:Prim1'
| ID |
531675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prim1
|
| Ensembl Gene |
ENSMUSG00000025395 |
| Gene Name |
DNA primase, p49 subunit |
| Synonyms |
|
| MMRRC Submission |
044907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127851084-127865899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127854018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 124
(S124P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026461]
[ENSMUST00000178041]
|
| AlphaFold |
P20664 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026461
AA Change: S124P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026461
Gene: ENSMUSG00000025395
AA Change: S124P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_primase_S
|
108 |
336 |
9.7e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178041
AA Change: S124P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136556
Gene: ENSMUSG00000025395
AA Change: S124P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_primase_S
|
108 |
336 |
3.3e-71 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt |
T |
C |
1: 93,063,104 (GRCm39) |
V30A |
possibly damaging |
Het |
| Atf7 |
T |
C |
15: 102,465,900 (GRCm39) |
K87E |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Btg4 |
A |
C |
9: 51,030,651 (GRCm39) |
K250N |
possibly damaging |
Het |
| Cracdl |
A |
G |
1: 37,676,936 (GRCm39) |
|
probably null |
Het |
| Cyc1 |
A |
G |
15: 76,228,850 (GRCm39) |
Y132C |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,445,667 (GRCm39) |
D137E |
possibly damaging |
Het |
| Ddr2 |
C |
A |
1: 169,809,667 (GRCm39) |
W770L |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,514 (GRCm39) |
V126A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,099,805 (GRCm39) |
N643D |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,973,314 (GRCm39) |
R75H |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,631 (GRCm39) |
H121Q |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,460,162 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Herpud1 |
T |
A |
8: 95,121,398 (GRCm39) |
|
probably null |
Het |
| Ica1 |
T |
C |
6: 8,653,659 (GRCm39) |
D326G |
probably benign |
Het |
| Jph3 |
T |
C |
8: 122,512,124 (GRCm39) |
L704P |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
T |
G |
17: 17,751,421 (GRCm39) |
N948T |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,741,893 (GRCm39) |
V3888D |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,289 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,159 (GRCm39) |
|
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,223,361 (GRCm39) |
H380R |
probably benign |
Het |
| Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
| Sapcd2 |
A |
G |
2: 25,266,379 (GRCm39) |
S389G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,364,955 (GRCm39) |
Q421R |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,985 (GRCm39) |
Y430H |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,184,321 (GRCm39) |
L234P |
probably damaging |
Het |
| Slc22a29 |
G |
T |
19: 8,138,887 (GRCm39) |
S525Y |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,519 (GRCm39) |
|
probably null |
Het |
| Tln2 |
T |
C |
9: 67,193,840 (GRCm39) |
D666G |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,797,992 (GRCm39) |
E502K |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,348 (GRCm39) |
H852L |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,204 (GRCm39) |
F787L |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,043,655 (GRCm39) |
H131R |
unknown |
Het |
|
| Other mutations in Prim1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01775:Prim1
|
APN |
10 |
127,865,112 (GRCm39) |
missense |
probably benign |
|
|
IGL01896:Prim1
|
APN |
10 |
127,858,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02505:Prim1
|
APN |
10 |
127,865,652 (GRCm39) |
makesense |
probably null |
|
|
PIT4403001:Prim1
|
UTSW |
10 |
127,858,745 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0563:Prim1
|
UTSW |
10 |
127,862,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Prim1
|
UTSW |
10 |
127,851,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Prim1
|
UTSW |
10 |
127,859,668 (GRCm39) |
missense |
probably benign |
|
|
R2263:Prim1
|
UTSW |
10 |
127,851,132 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4774:Prim1
|
UTSW |
10 |
127,862,887 (GRCm39) |
intron |
probably benign |
|
|
R4976:Prim1
|
UTSW |
10 |
127,851,131 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5908:Prim1
|
UTSW |
10 |
127,853,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6356:Prim1
|
UTSW |
10 |
127,859,704 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6598:Prim1
|
UTSW |
10 |
127,856,049 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7179:Prim1
|
UTSW |
10 |
127,851,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Prim1
|
UTSW |
10 |
127,858,788 (GRCm39) |
missense |
probably null |
0.13 |
|
R7432:Prim1
|
UTSW |
10 |
127,851,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Prim1
|
UTSW |
10 |
127,853,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7659:Prim1
|
UTSW |
10 |
127,862,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8382:Prim1
|
UTSW |
10 |
127,856,138 (GRCm39) |
splice site |
probably null |
|
|
R8828:Prim1
|
UTSW |
10 |
127,859,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTATTCTTAGCCCAATCAACACAAT -3'
(R):5'- TGAAATACAGAGACTGAGAGCAT -3'
Sequencing Primer
(F):5'- TTAGCCCAATCAACACAATACAGTG -3'
(R):5'- TATTGACATACGGAGACACACC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation