Incidental Mutation 'R5505:Poldip2'
| ID |
430892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poldip2
|
| Ensembl Gene |
ENSMUSG00000001100 |
| Gene Name |
polymerase (DNA-directed), delta interacting protein 2 |
| Synonyms |
1300003F06Rik, mitogenin 1 |
| MMRRC Submission |
043066-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5505 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78403105-78413562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78406001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 76
(T76A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001127]
[ENSMUST00000052566]
|
| AlphaFold |
Q91VA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001127
AA Change: T111A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: T111A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
47 |
N/A |
INTRINSIC |
|
YccV-like
|
74 |
210 |
1.03e-39 |
SMART |
|
Pfam:DUF525
|
252 |
338 |
2.3e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052566
|
| SMART Domains |
Protein: ENSMUSP00000058599
Gene: ENSMUSG00000051232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vma12
|
78 |
204 |
1e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133601
AA Change: T76A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
AA Change: T76A
| Domain | Start | End | E-Value | Type |
|---|
|
YccV-like
|
40 |
176 |
1.03e-39 |
SMART |
|
Pfam:DUF525
|
218 |
278 |
4.9e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135946
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156754
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality and decreased body size. Mice heterozygous for this allele exhibit abnormal induced vasoconstriction and vasodilation with abnormal aorta elastic tissue morphology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(34) : Gene trapped(34) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
A |
5: 24,606,036 (GRCm39) |
D240E |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,728,309 (GRCm39) |
E480K |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,248 (GRCm39) |
E372G |
probably damaging |
Het |
| Atp23 |
G |
T |
10: 126,723,499 (GRCm39) |
A201D |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,046,699 (GRCm39) |
D73G |
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,706,655 (GRCm39) |
S325P |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,860,410 (GRCm39) |
Y140H |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,767,688 (GRCm39) |
D124E |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,335,048 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,803,745 (GRCm39) |
S34P |
probably benign |
Het |
| Enah |
T |
A |
1: 181,734,018 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
C |
G |
2: 22,514,845 (GRCm39) |
L108V |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,724 (GRCm39) |
I133V |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,187 (GRCm39) |
T13A |
probably benign |
Het |
| Ighv1-4 |
A |
G |
12: 114,451,057 (GRCm39) |
V17A |
possibly damaging |
Het |
| Ints8 |
T |
A |
4: 11,221,143 (GRCm39) |
Q744L |
probably benign |
Het |
| Lrit3 |
C |
T |
3: 129,585,087 (GRCm39) |
V224I |
possibly damaging |
Het |
| Mgat4a |
T |
C |
1: 37,535,035 (GRCm39) |
I108V |
probably benign |
Het |
| Mmp9 |
T |
C |
2: 164,795,528 (GRCm39) |
I682T |
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,474,592 (GRCm39) |
A1742T |
probably benign |
Het |
| Nlrp12 |
C |
T |
7: 3,298,015 (GRCm39) |
G52D |
probably damaging |
Het |
| Or5t9 |
T |
C |
2: 86,659,845 (GRCm39) |
F250L |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,996,927 (GRCm39) |
L941P |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,075,256 (GRCm39) |
R45G |
probably benign |
Het |
| Plcz1 |
C |
G |
6: 139,961,942 (GRCm39) |
G203A |
probably damaging |
Het |
| Prdm15 |
T |
A |
16: 97,618,183 (GRCm39) |
H325L |
possibly damaging |
Het |
| Ralyl |
A |
T |
3: 13,841,980 (GRCm39) |
I39F |
probably damaging |
Het |
| Rnf220 |
A |
C |
4: 117,153,288 (GRCm39) |
|
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,409,102 (GRCm39) |
K318E |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,836,259 (GRCm39) |
N432K |
probably damaging |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,072 (GRCm39) |
Y176N |
probably damaging |
Het |
| Slc25a30 |
G |
A |
14: 76,000,789 (GRCm39) |
L272F |
probably damaging |
Het |
| Spag1 |
T |
C |
15: 36,234,772 (GRCm39) |
V844A |
probably damaging |
Het |
| Srsf5 |
T |
C |
12: 80,995,857 (GRCm39) |
|
probably benign |
Het |
| Tle2 |
T |
A |
10: 81,417,574 (GRCm39) |
D223E |
probably benign |
Het |
| Tmem192 |
A |
G |
8: 65,416,898 (GRCm39) |
E39G |
possibly damaging |
Het |
| Trpc6 |
T |
A |
9: 8,626,736 (GRCm39) |
L362H |
probably damaging |
Het |
| Tuba4a |
A |
G |
1: 75,193,060 (GRCm39) |
Y185H |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,268,405 (GRCm39) |
V941A |
probably benign |
Het |
| Vmn2r35 |
A |
T |
7: 7,789,479 (GRCm39) |
Y753N |
probably damaging |
Het |
| Zfp941 |
C |
T |
7: 140,391,830 (GRCm39) |
V510I |
probably benign |
Het |
|
| Other mutations in Poldip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01959:Poldip2
|
APN |
11 |
78,403,133 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02119:Poldip2
|
APN |
11 |
78,408,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02565:Poldip2
|
APN |
11 |
78,408,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02735:Poldip2
|
APN |
11 |
78,403,162 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03115:Poldip2
|
APN |
11 |
78,411,970 (GRCm39) |
splice site |
probably benign |
|
|
F6893:Poldip2
|
UTSW |
11 |
78,410,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02980:Poldip2
|
UTSW |
11 |
78,412,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Poldip2
|
UTSW |
11 |
78,403,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0932:Poldip2
|
UTSW |
11 |
78,403,294 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1014:Poldip2
|
UTSW |
11 |
78,405,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Poldip2
|
UTSW |
11 |
78,404,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Poldip2
|
UTSW |
11 |
78,408,458 (GRCm39) |
splice site |
probably null |
|
|
R8917:Poldip2
|
UTSW |
11 |
78,412,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Poldip2
|
UTSW |
11 |
78,411,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTTGCTTCTACCCAGGCC -3'
(R):5'- GTGCCAAAGAAACACTCTGGG -3'
Sequencing Primer
(F):5'- TTCTACCCAGGCCGCTATGG -3'
(R):5'- TGGCTTTGAACTCAGAGACC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation