Incidental Mutation 'IGL02980:Poldip2'
| ID |
392147 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02980 (G1)
|
| Quality Score |
117 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78403105-78413562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78412054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 330
(M330K)
|
| 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: M330K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: M330K
| 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 |
probably benign
Transcript: ENSMUST00000133601
|
| SMART Domains |
Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
| 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: ENSMUST00000147930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156754
|
| Meta Mutation Damage Score |
0.3588 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
97% (35/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Adam28 |
A |
T |
14: 68,857,255 (GRCm39) |
S584T |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,735,990 (GRCm39) |
I224N |
probably benign |
Het |
| Ankdd1b |
C |
T |
13: 96,572,448 (GRCm39) |
R214Q |
probably benign |
Het |
| Armt1 |
A |
G |
10: 4,400,643 (GRCm39) |
|
probably benign |
Het |
| C1rl |
T |
C |
6: 124,485,487 (GRCm39) |
I286T |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,150,399 (GRCm39) |
T2528A |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,447,198 (GRCm39) |
|
probably null |
Het |
| Dag1 |
A |
G |
9: 108,095,237 (GRCm39) |
I85T |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,172,379 (GRCm39) |
V86A |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,268,587 (GRCm39) |
T485A |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,250,188 (GRCm39) |
|
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,585 (GRCm39) |
H188R |
probably benign |
Het |
| Ighv9-2 |
C |
T |
12: 114,072,839 (GRCm39) |
V45M |
probably damaging |
Het |
| Kifbp |
A |
C |
10: 62,394,947 (GRCm39) |
L565W |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,686,288 (GRCm39) |
L2784F |
probably benign |
Het |
| Ms4a4c |
G |
T |
19: 11,393,747 (GRCm39) |
A64S |
probably benign |
Het |
| Nudt22 |
A |
G |
19: 6,970,500 (GRCm39) |
L280P |
probably damaging |
Het |
| Oscar |
T |
C |
7: 3,614,062 (GRCm39) |
|
probably benign |
Het |
| Paics |
A |
G |
5: 77,114,102 (GRCm39) |
I321V |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,226,011 (GRCm39) |
H1288L |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,345,390 (GRCm39) |
E322G |
possibly damaging |
Het |
| Potefam1 |
G |
A |
2: 110,994,818 (GRCm39) |
H232Y |
unknown |
Het |
| Recql5 |
T |
C |
11: 115,784,770 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
A |
G |
11: 44,452,484 (GRCm39) |
M488V |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,269,013 (GRCm39) |
D170E |
possibly damaging |
Het |
| Slamf7 |
T |
C |
1: 171,468,566 (GRCm39) |
S109G |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,192,123 (GRCm39) |
S904P |
possibly damaging |
Het |
| St7 |
C |
A |
6: 17,749,545 (GRCm39) |
|
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,555,390 (GRCm39) |
S102P |
probably damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,548 (GRCm39) |
A659T |
probably damaging |
Het |
| Tdrp |
A |
C |
8: 14,003,918 (GRCm39) |
S140A |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,130,451 (GRCm39) |
N527D |
probably benign |
Het |
| Tsnaxip1 |
G |
T |
8: 106,568,842 (GRCm39) |
V444L |
probably damaging |
Het |
| U2af2 |
A |
G |
7: 5,071,042 (GRCm39) |
I116V |
probably benign |
Het |
| Zfp931 |
C |
A |
2: 177,711,409 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTGGGTGAAAGGAGATC -3'
(R):5'- CCTTTGCTGAACTGACCACAAG -3'
Sequencing Primer
(F):5'- GGAGATCAACACATAGTGGCCC -3'
(R):5'- TGACCACAAGTTCAGCTTACTCAGG -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation