Incidental Mutation 'IGL00921:Prim2'
| ID |
26636 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prim2
|
| Ensembl Gene |
ENSMUSG00000026134 |
| Gene Name |
DNA primase, p58 subunit |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
IGL00921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
33492891-33708876 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33551241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 292
(H292Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027312]
|
| AlphaFold |
P33610 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027312
AA Change: H292Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027312
Gene: ENSMUSG00000026134
AA Change: H292Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_primase_lrg
|
182 |
448 |
6.2e-99 |
PFAM |
|
low complexity region
|
482 |
503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189552
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,888 (GRCm39) |
I1530T |
probably damaging |
Het |
| Actb |
T |
C |
5: 142,890,191 (GRCm39) |
E237G |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,690,585 (GRCm39) |
E931G |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,387 (GRCm39) |
T375A |
probably benign |
Het |
| D1Pas1 |
A |
G |
1: 186,700,983 (GRCm39) |
D304G |
probably benign |
Het |
| Ddx49 |
G |
A |
8: 70,747,406 (GRCm39) |
Q345* |
probably null |
Het |
| Dnttip2 |
A |
T |
3: 122,068,939 (GRCm39) |
K51N |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,066 (GRCm39) |
E621G |
probably damaging |
Het |
| Grhpr |
A |
G |
4: 44,988,991 (GRCm39) |
D216G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,729,126 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
A |
G |
7: 4,667,750 (GRCm39) |
S248P |
probably damaging |
Het |
| Kat6a |
C |
T |
8: 23,430,279 (GRCm39) |
P1878L |
unknown |
Het |
| Klrg1 |
A |
T |
6: 122,259,711 (GRCm39) |
D20E |
probably benign |
Het |
| Layn |
G |
A |
9: 50,968,708 (GRCm39) |
T345I |
probably damaging |
Het |
| Mpi |
G |
A |
9: 57,459,549 (GRCm39) |
L9F |
probably damaging |
Het |
| Nbn |
T |
C |
4: 15,963,833 (GRCm39) |
V78A |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,701,427 (GRCm39) |
I1503T |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,792,125 (GRCm39) |
E577* |
probably null |
Het |
| Tg |
A |
G |
15: 66,636,302 (GRCm39) |
N630D |
probably benign |
Het |
| Trim80 |
A |
G |
11: 115,338,490 (GRCm39) |
N440S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,766,746 (GRCm39) |
S3111G |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,447,160 (GRCm39) |
T339A |
probably benign |
Het |
| Zbtb21 |
A |
C |
16: 97,753,222 (GRCm39) |
S354A |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,736,696 (GRCm39) |
T980A |
possibly damaging |
Het |
|
| Other mutations in Prim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02576:Prim2
|
APN |
1 |
33,523,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Prim2
|
UTSW |
1 |
33,523,757 (GRCm39) |
splice site |
probably benign |
|
|
R0686:Prim2
|
UTSW |
1 |
33,553,270 (GRCm39) |
missense |
probably benign |
|
|
R1452:Prim2
|
UTSW |
1 |
33,669,485 (GRCm39) |
missense |
probably benign |
|
|
R3925:Prim2
|
UTSW |
1 |
33,572,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4398:Prim2
|
UTSW |
1 |
33,551,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Prim2
|
UTSW |
1 |
33,709,217 (GRCm39) |
unclassified |
probably benign |
|
|
R4832:Prim2
|
UTSW |
1 |
33,503,145 (GRCm39) |
missense |
probably benign |
|
|
R5057:Prim2
|
UTSW |
1 |
33,669,441 (GRCm39) |
nonsense |
probably null |
|
|
R5240:Prim2
|
UTSW |
1 |
33,519,397 (GRCm39) |
intron |
probably benign |
|
|
R5294:Prim2
|
UTSW |
1 |
33,707,974 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5771:Prim2
|
UTSW |
1 |
33,493,232 (GRCm39) |
missense |
unknown |
|
|
R5807:Prim2
|
UTSW |
1 |
33,519,487 (GRCm39) |
intron |
probably benign |
|
|
R6307:Prim2
|
UTSW |
1 |
33,701,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7165:Prim2
|
UTSW |
1 |
33,667,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8904:Prim2
|
UTSW |
1 |
33,669,513 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9435:Prim2
|
UTSW |
1 |
33,523,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation