Incidental Mutation 'R1014:Poldip2'
| ID |
96028 |
| 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 |
039118-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1014 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78403105-78413562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78405988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 106
(D106E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001127]
[ENSMUST00000052566]
|
| AlphaFold |
Q91VA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001127
AA Change: D106E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: D106E
| 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 |
unknown
Transcript: ENSMUST00000133601
AA Change: D71E
|
| SMART Domains |
Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
AA Change: D71E
| 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: ENSMUST00000156754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151499
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
C |
4: 126,400,578 (GRCm39) |
R712G |
probably damaging |
Het |
| Arg1 |
C |
A |
10: 24,792,758 (GRCm39) |
V159L |
probably benign |
Het |
| Caap1 |
C |
T |
4: 94,437,383 (GRCm39) |
C193Y |
probably benign |
Het |
| Cdh12 |
A |
T |
15: 21,492,706 (GRCm39) |
M242L |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,340,354 (GRCm39) |
|
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,674 (GRCm39) |
T101A |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,638 (GRCm39) |
C407R |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,207,388 (GRCm39) |
S484P |
probably benign |
Het |
| Gm10300 |
A |
G |
4: 131,802,023 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,808,645 (GRCm39) |
I105T |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,306 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,354,156 (GRCm39) |
L403P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,054,274 (GRCm39) |
K363R |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,091,334 (GRCm39) |
F202L |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,077,355 (GRCm39) |
T897M |
possibly damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,383 (GRCm39) |
W86R |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,684,928 (GRCm39) |
D465G |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,556,422 (GRCm39) |
L584Q |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,303 (GRCm39) |
L561P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,779,867 (GRCm39) |
S12G |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,353 (GRCm39) |
D726G |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,542,194 (GRCm39) |
A799E |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,739 (GRCm39) |
Y117C |
probably benign |
Het |
| Ppm1d |
C |
A |
11: 85,227,980 (GRCm39) |
H299N |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,643 (GRCm39) |
Y911C |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rtf1 |
T |
G |
2: 119,550,727 (GRCm39) |
S329A |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,054,882 (GRCm39) |
I841T |
probably benign |
Het |
| Slc2a3 |
T |
C |
6: 122,708,525 (GRCm39) |
I367V |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,194,993 (GRCm39) |
T251A |
probably damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,966 (GRCm39) |
N19Y |
probably damaging |
Het |
| Tll2 |
A |
T |
19: 41,092,290 (GRCm39) |
Y516N |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,803,242 (GRCm39) |
G849R |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,583,192 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp318 |
GAA |
GAANAA |
17: 46,723,462 (GRCm39) |
|
probably null |
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 |
|
R4797:Poldip2
|
UTSW |
11 |
78,404,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5505:Poldip2
|
UTSW |
11 |
78,406,001 (GRCm39) |
missense |
probably benign |
|
|
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'- CTGCTGTAGTTGCTTCTACCCAGG -3'
(R):5'- GAGACCCCATAGCACTTTTGTCTCC -3'
Sequencing Primer
(F):5'- TCTACCCAGGCCGCTATG -3'
(R):5'- gaccctcctgtttctgcc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation