Incidental Mutation 'IGL02119:Poldip2'
| ID |
280496 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Poldip2
|
| Ensembl Gene |
ENSMUSG00000001100 |
| Gene Name |
polymerase (DNA-directed), delta interacting protein 2 |
| Synonyms |
1300003F06Rik, mitogenin 1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02119
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78403105-78413562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78408734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 200
(F200I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001127]
[ENSMUST00000017759]
[ENSMUST00000108277]
|
| AlphaFold |
Q91VA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001127
AA Change: F200I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: F200I
| 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: ENSMUST00000017759
|
| SMART Domains |
Protein: ENSMUSP00000017759
Gene: ENSMUSG00000017615
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
28 |
128 |
4.8e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108277
|
| SMART Domains |
Protein: ENSMUSP00000103912
Gene: ENSMUSG00000017615
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
28 |
128 |
4.8e-18 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133601
AA Change: F165I
|
| SMART Domains |
Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
AA Change: F165I
| 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: ENSMUST00000136284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156754
|
| 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 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 |
|---|
| Abcb11 |
T |
A |
2: 69,158,344 (GRCm39) |
|
probably null |
Het |
| Acsbg2 |
T |
C |
17: 57,175,459 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,598,911 (GRCm39) |
V495A |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,338,724 (GRCm39) |
|
probably benign |
Het |
| Bora |
A |
G |
14: 99,290,974 (GRCm39) |
D94G |
probably damaging |
Het |
| Bpifb9b |
G |
T |
2: 154,155,544 (GRCm39) |
V348L |
possibly damaging |
Het |
| Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
| Cyp2d11 |
A |
C |
15: 82,274,265 (GRCm39) |
I372S |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,044,559 (GRCm39) |
V380D |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,037,088 (GRCm39) |
A3580V |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,548 (GRCm39) |
S1024P |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,447,511 (GRCm39) |
E1105K |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,268,908 (GRCm39) |
E415V |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,295,588 (GRCm39) |
F224Y |
probably damaging |
Het |
| Gm11146 |
A |
T |
16: 77,385,498 (GRCm39) |
|
probably null |
Het |
| Gsn |
G |
T |
2: 35,192,507 (GRCm39) |
R485L |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,666,320 (GRCm39) |
Y261C |
probably damaging |
Het |
| Maneal |
A |
T |
4: 124,752,960 (GRCm39) |
I229N |
probably benign |
Het |
| Med24 |
A |
T |
11: 98,619,661 (GRCm39) |
M27K |
probably benign |
Het |
| Nipsnap2 |
T |
A |
5: 129,825,056 (GRCm39) |
|
probably benign |
Het |
| Noa1 |
T |
A |
5: 77,455,426 (GRCm39) |
Q430L |
probably benign |
Het |
| Or1l4 |
C |
A |
2: 37,091,281 (GRCm39) |
S9R |
possibly damaging |
Het |
| Or5d47 |
T |
A |
2: 87,804,754 (GRCm39) |
N85I |
probably benign |
Het |
| Or7g12 |
T |
C |
9: 18,899,908 (GRCm39) |
V208A |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,527 (GRCm39) |
I92V |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,405,529 (GRCm39) |
S460R |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,922 (GRCm39) |
Q826R |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,311,730 (GRCm39) |
I1989N |
probably damaging |
Het |
| Prodh2 |
T |
C |
7: 30,205,929 (GRCm39) |
V208A |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,553,635 (GRCm39) |
D89G |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,544,015 (GRCm39) |
S90R |
probably damaging |
Het |
| Slc44a4 |
A |
C |
17: 35,147,637 (GRCm39) |
D441A |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,059,014 (GRCm39) |
I174F |
probably damaging |
Het |
| Smim17 |
T |
C |
7: 6,430,160 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,546,760 (GRCm39) |
E872G |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,406,733 (GRCm38) |
L625S |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,695,593 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Whrn |
T |
G |
4: 63,353,724 (GRCm39) |
K348Q |
probably damaging |
Het |
| Zc3h14 |
T |
C |
12: 98,730,154 (GRCm39) |
V399A |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation