Incidental Mutation 'R2302:Poldip3'
| ID |
244473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Poldip3
|
| Ensembl Gene |
ENSMUSG00000041815 |
| Gene Name |
polymerase (DNA-directed), delta interacting protein 3 |
| Synonyms |
1110008P04Rik, PDIP46 |
| MMRRC Submission |
040301-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R2302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83010177-83033585 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 83013469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058793]
[ENSMUST00000100375]
[ENSMUST00000129372]
|
| AlphaFold |
Q8BG81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058793
|
| SMART Domains |
Protein: ENSMUSP00000054548
Gene: ENSMUSG00000041815
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
183 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
272 |
N/A |
INTRINSIC |
|
RRM
|
281 |
347 |
5.05e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100375
|
| SMART Domains |
Protein: ENSMUSP00000097944
Gene: ENSMUSG00000041815
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
154 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
RRM
|
252 |
318 |
5.05e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129372
|
| SMART Domains |
Protein: ENSMUSP00000120859
Gene: ENSMUSG00000041815
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135013
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (30/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat2 |
A |
T |
2: 26,494,207 (GRCm39) |
W6R |
possibly damaging |
Het |
| Ahrr |
C |
A |
13: 74,425,780 (GRCm39) |
V72F |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,609,415 (GRCm39) |
C1369Y |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,271,701 (GRCm39) |
P538Q |
probably damaging |
Het |
| Cnn2 |
C |
G |
10: 79,827,233 (GRCm39) |
R35G |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 48,177,447 (GRCm39) |
A364S |
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,391,629 (GRCm39) |
T73A |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,241,958 (GRCm39) |
N200D |
possibly damaging |
Het |
| Hyls1 |
T |
C |
9: 35,475,365 (GRCm39) |
E3G |
possibly damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,485,393 (GRCm39) |
L464P |
probably damaging |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lhfpl2 |
T |
C |
13: 94,311,054 (GRCm39) |
V108A |
probably benign |
Het |
| Lrrc7 |
C |
G |
3: 157,840,881 (GRCm39) |
G1386R |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,849,640 (GRCm39) |
V231A |
possibly damaging |
Het |
| Mup4 |
T |
A |
4: 59,960,702 (GRCm39) |
|
probably null |
Het |
| Myh8 |
A |
T |
11: 67,177,065 (GRCm39) |
R406W |
probably damaging |
Het |
| Pomt1 |
G |
A |
2: 32,133,671 (GRCm39) |
G216S |
probably benign |
Het |
| Ppil6 |
T |
A |
10: 41,377,795 (GRCm39) |
C169S |
probably damaging |
Het |
| Prokr2 |
A |
G |
2: 132,223,104 (GRCm39) |
I146T |
probably damaging |
Het |
| Rab3b |
T |
C |
4: 108,786,640 (GRCm39) |
V130A |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,931,015 (GRCm39) |
I672N |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,108,089 (GRCm39) |
T1546A |
probably damaging |
Het |
| Sftpd |
T |
A |
14: 40,894,399 (GRCm39) |
E340V |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,919,756 (GRCm39) |
|
noncoding transcript |
Het |
| Svopl |
A |
T |
6: 38,018,101 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
A |
G |
5: 119,979,924 (GRCm39) |
K157E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,724,696 (GRCm39) |
C6333S |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,702,179 (GRCm39) |
K158E |
possibly damaging |
Het |
| Zscan20 |
T |
C |
4: 128,482,057 (GRCm39) |
N535S |
probably damaging |
Het |
|
| Other mutations in Poldip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Poldip3
|
APN |
15 |
83,022,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Poldip3
|
APN |
15 |
83,013,469 (GRCm39) |
unclassified |
probably benign |
|
|
R0143:Poldip3
|
UTSW |
15 |
83,012,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Poldip3
|
UTSW |
15 |
83,019,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0511:Poldip3
|
UTSW |
15 |
83,022,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1560:Poldip3
|
UTSW |
15 |
83,022,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3755:Poldip3
|
UTSW |
15 |
83,015,676 (GRCm39) |
unclassified |
probably benign |
|
|
R3756:Poldip3
|
UTSW |
15 |
83,015,676 (GRCm39) |
unclassified |
probably benign |
|
|
R4785:Poldip3
|
UTSW |
15 |
83,015,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Poldip3
|
UTSW |
15 |
83,016,776 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4965:Poldip3
|
UTSW |
15 |
83,021,706 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5009:Poldip3
|
UTSW |
15 |
83,017,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5030:Poldip3
|
UTSW |
15 |
83,022,392 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5992:Poldip3
|
UTSW |
15 |
83,013,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6638:Poldip3
|
UTSW |
15 |
83,017,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Poldip3
|
UTSW |
15 |
83,015,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Poldip3
|
UTSW |
15 |
83,019,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTGATTGACCACTGAGC -3'
(R):5'- CCCACACCTGCTAGATAGTTTC -3'
Sequencing Primer
(F):5'- TCCTGATTGACCACTGAGCATAAGAG -3'
(R):5'- CACTAGCTATCCCAGGCTGGTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation