Incidental Mutation 'R3882:Paxip1'
| ID |
312810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paxip1
|
| Ensembl Gene |
ENSMUSG00000002221 |
| Gene Name |
PAX interacting (with transcription-activation domain) protein 1 |
| Synonyms |
D5Ertd149e, PTIP |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3882 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
27945078-27996689 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27953837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 953
(R953Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002291]
|
| AlphaFold |
Q6NZQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002291
AA Change: R953Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: R953Q
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
10 |
83 |
6.72e1 |
SMART |
|
BRCT
|
96 |
173 |
8.83e-15 |
SMART |
|
low complexity region
|
189 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
223 |
N/A |
INTRINSIC |
|
coiled coil region
|
489 |
547 |
N/A |
INTRINSIC |
|
BRCT
|
590 |
671 |
5.74e-14 |
SMART |
|
BRCT
|
690 |
766 |
1.67e-15 |
SMART |
|
BRCT
|
845 |
924 |
4.03e-9 |
SMART |
|
BRCT
|
957 |
1046 |
3.54e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197625
|
| Meta Mutation Damage Score |
0.1145 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: This gene encodes a nuclear-localized protein that contains six BRCT1 (C-terminal of breast cancer susceptibility protein) domains. The encoded protein is involved in the repair of DNA double-strand breaks and is necessary for progression through cell division. The protein also functions in the regulation of transcription by recruiting histone methyltransferases to gene promoters bound by the sequence-specific transcription factor paired box protein 2 (Pax2). [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutant mice are developmentally retarded and embyronic lethal by E9.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
T |
9: 106,312,708 (GRCm39) |
T181K |
possibly damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,003 (GRCm39) |
F581L |
probably benign |
Het |
| Amhr2 |
G |
A |
15: 102,354,333 (GRCm39) |
G48D |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,525,661 (GRCm39) |
F1979S |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,153,526 (GRCm39) |
W24R |
probably damaging |
Het |
| C2 |
T |
C |
17: 35,092,465 (GRCm39) |
T191A |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,227,727 (GRCm39) |
T2454S |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,107 (GRCm39) |
E150G |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,595,492 (GRCm39) |
V1444F |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,162 (GRCm39) |
V319A |
possibly damaging |
Het |
| Gpha2 |
T |
C |
19: 6,276,919 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,137,319 (GRCm39) |
N517S |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,927,480 (GRCm39) |
I874N |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,672,462 (GRCm39) |
V1162E |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,012,063 (GRCm39) |
V698D |
possibly damaging |
Het |
| Miip |
A |
C |
4: 147,945,509 (GRCm39) |
S376A |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,435,983 (GRCm39) |
R285Q |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,517 (GRCm39) |
V281A |
probably benign |
Het |
| Pcdha8 |
C |
A |
18: 37,126,099 (GRCm39) |
L194I |
probably damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,624 (GRCm39) |
I369V |
probably benign |
Het |
| Pcdhga10 |
C |
A |
18: 37,880,494 (GRCm39) |
A85E |
possibly damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,899,719 (GRCm39) |
R137G |
possibly damaging |
Het |
| Rcor1 |
C |
T |
12: 111,070,187 (GRCm39) |
A230V |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,312,623 (GRCm39) |
M1191V |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,950,384 (GRCm39) |
D904G |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,662,313 (GRCm39) |
V706E |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,329 (GRCm39) |
C243S |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,092,536 (GRCm39) |
C1083S |
possibly damaging |
Het |
| Zfp952 |
G |
T |
17: 33,220,949 (GRCm39) |
E18* |
probably null |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
| Zscan25 |
G |
T |
5: 145,227,862 (GRCm39) |
G509C |
probably damaging |
Het |
|
| Other mutations in Paxip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Paxip1
|
APN |
5 |
27,977,550 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01705:Paxip1
|
APN |
5 |
27,953,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01844:Paxip1
|
APN |
5 |
27,956,036 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02143:Paxip1
|
APN |
5 |
27,980,596 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02863:Paxip1
|
APN |
5 |
27,964,393 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02903:Paxip1
|
APN |
5 |
27,953,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03008:Paxip1
|
APN |
5 |
27,957,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
BB003:Paxip1
|
UTSW |
5 |
27,996,207 (GRCm39) |
missense |
unknown |
|
|
BB013:Paxip1
|
UTSW |
5 |
27,996,207 (GRCm39) |
missense |
unknown |
|
|
R0128:Paxip1
|
UTSW |
5 |
27,949,183 (GRCm39) |
splice site |
probably benign |
|
|
R0130:Paxip1
|
UTSW |
5 |
27,949,183 (GRCm39) |
splice site |
probably benign |
|
|
R0331:Paxip1
|
UTSW |
5 |
27,970,230 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0357:Paxip1
|
UTSW |
5 |
27,963,621 (GRCm39) |
splice site |
probably benign |
|
|
R0370:Paxip1
|
UTSW |
5 |
27,965,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Paxip1
|
UTSW |
5 |
27,970,940 (GRCm39) |
nonsense |
probably null |
|
|
R1969:Paxip1
|
UTSW |
5 |
27,949,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Paxip1
|
UTSW |
5 |
27,947,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3424:Paxip1
|
UTSW |
5 |
27,980,671 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3808:Paxip1
|
UTSW |
5 |
27,977,027 (GRCm39) |
unclassified |
probably benign |
|
|
R3809:Paxip1
|
UTSW |
5 |
27,977,027 (GRCm39) |
unclassified |
probably benign |
|
|
R3881:Paxip1
|
UTSW |
5 |
27,953,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Paxip1
|
UTSW |
5 |
27,966,675 (GRCm39) |
splice site |
probably null |
|
|
R4692:Paxip1
|
UTSW |
5 |
27,977,095 (GRCm39) |
unclassified |
probably benign |
|
|
R4776:Paxip1
|
UTSW |
5 |
27,970,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Paxip1
|
UTSW |
5 |
27,971,282 (GRCm39) |
missense |
unknown |
|
|
R5388:Paxip1
|
UTSW |
5 |
27,986,453 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5397:Paxip1
|
UTSW |
5 |
27,977,002 (GRCm39) |
unclassified |
probably benign |
|
|
R5553:Paxip1
|
UTSW |
5 |
27,980,637 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6151:Paxip1
|
UTSW |
5 |
27,966,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Paxip1
|
UTSW |
5 |
27,971,171 (GRCm39) |
missense |
unknown |
|
|
R6276:Paxip1
|
UTSW |
5 |
27,966,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:Paxip1
|
UTSW |
5 |
27,970,576 (GRCm39) |
splice site |
probably null |
|
|
R6584:Paxip1
|
UTSW |
5 |
27,963,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6688:Paxip1
|
UTSW |
5 |
27,949,135 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6908:Paxip1
|
UTSW |
5 |
27,996,222 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6981:Paxip1
|
UTSW |
5 |
27,970,766 (GRCm39) |
nonsense |
probably null |
|
|
R7252:Paxip1
|
UTSW |
5 |
27,965,084 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7385:Paxip1
|
UTSW |
5 |
27,986,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7585:Paxip1
|
UTSW |
5 |
27,977,002 (GRCm39) |
missense |
unknown |
|
|
R7665:Paxip1
|
UTSW |
5 |
27,970,736 (GRCm39) |
missense |
unknown |
|
|
R7926:Paxip1
|
UTSW |
5 |
27,996,207 (GRCm39) |
missense |
unknown |
|
|
R8169:Paxip1
|
UTSW |
5 |
27,977,093 (GRCm39) |
missense |
unknown |
|
|
R8335:Paxip1
|
UTSW |
5 |
27,971,122 (GRCm39) |
missense |
unknown |
|
|
R8732:Paxip1
|
UTSW |
5 |
27,949,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Paxip1
|
UTSW |
5 |
27,977,078 (GRCm39) |
missense |
unknown |
|
|
X0066:Paxip1
|
UTSW |
5 |
27,971,016 (GRCm39) |
missense |
unknown |
|
|
Z1176:Paxip1
|
UTSW |
5 |
27,988,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCAGAGTAAAGAATGTTCCTG -3'
(R):5'- TCACAGGATGAGTGTGGCTG -3'
Sequencing Primer
(F):5'- CAGTCTGATCTAGCTACACAGTGAG -3'
(R):5'- GTGGGTTGTATGGCCTGCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation