Incidental Mutation 'IGL01896:Prim1'
| ID |
179415 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prim1
|
| Ensembl Gene |
ENSMUSG00000025395 |
| Gene Name |
DNA primase, p49 subunit |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
IGL01896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127851084-127865899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127858758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 222
(Y222C)
|
| 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: Y222C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026461
Gene: ENSMUSG00000025395
AA Change: Y222C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_primase_S
|
108 |
336 |
9.7e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133285
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138330
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178041
AA Change: Y222C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136556
Gene: ENSMUSG00000025395
AA Change: Y222C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_primase_S
|
108 |
336 |
3.3e-71 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,101,154 (GRCm39) |
F509Y |
possibly damaging |
Het |
| Acot11 |
T |
A |
4: 106,628,564 (GRCm39) |
I75F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,113,578 (GRCm39) |
N427Y |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,522 (GRCm39) |
D89G |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,721,438 (GRCm39) |
T378S |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,615,959 (GRCm39) |
C436S |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,186,634 (GRCm39) |
V429M |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 66,021,492 (GRCm39) |
D311E |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,267,752 (GRCm39) |
K396R |
possibly damaging |
Het |
| Eif4b |
T |
C |
15: 102,003,721 (GRCm39) |
S597P |
probably benign |
Het |
| Ezh1 |
A |
T |
11: 101,104,581 (GRCm39) |
N155K |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,041,862 (GRCm39) |
S157G |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5600 |
T |
C |
7: 113,307,221 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
A |
3: 3,716,470 (GRCm39) |
V298E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,118,268 (GRCm39) |
R446Q |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,162 (GRCm39) |
I611V |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,921,360 (GRCm39) |
E524G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,486,135 (GRCm39) |
D425G |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,555,773 (GRCm39) |
V921L |
probably benign |
Het |
| Plxdc1 |
A |
T |
11: 97,815,408 (GRCm39) |
M470K |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,649,389 (GRCm39) |
N264S |
possibly damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,752,500 (GRCm39) |
D441G |
probably benign |
Het |
| Samd9l |
G |
T |
6: 3,375,120 (GRCm39) |
Q714K |
probably benign |
Het |
| Scrib |
T |
C |
15: 75,937,967 (GRCm39) |
E293G |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,029,380 (GRCm39) |
N255K |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,703,050 (GRCm39) |
I141T |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,145,370 (GRCm39) |
L485P |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,522 (GRCm39) |
Y706N |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,444 (GRCm39) |
F583L |
possibly damaging |
Het |
| Tmprss15 |
A |
G |
16: 78,887,678 (GRCm39) |
V43A |
probably benign |
Het |
| Ttc24 |
T |
C |
3: 87,977,720 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
A |
G |
17: 87,666,552 (GRCm39) |
T606A |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,202,362 (GRCm39) |
P689T |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wfdc8 |
A |
T |
2: 164,447,700 (GRCm39) |
M120K |
probably damaging |
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 |
|
|
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 |
|
R6794:Prim1
|
UTSW |
10 |
127,854,018 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation