Incidental Mutation 'IGL02143:Paxip1'
| ID |
281657 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
27945078-27996689 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 27980596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002291]
[ENSMUST00000196734]
|
| AlphaFold |
Q6NZQ4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000002291
AA Change: C136R
|
| SMART Domains |
Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: C136R
| 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 |
probably benign
Transcript: ENSMUST00000196734
|
| SMART Domains |
Protein: ENSMUSP00000142578
Gene: ENSMUSG00000002221
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRCT
|
10 |
83 |
5e-48 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,194,278 (GRCm39) |
M1T |
probably null |
Het |
| Ager |
G |
A |
17: 34,818,092 (GRCm39) |
G183E |
probably damaging |
Het |
| Alcam |
C |
A |
16: 52,125,982 (GRCm39) |
V112L |
probably damaging |
Het |
| Amot |
T |
A |
X: 144,270,024 (GRCm39) |
Q204H |
probably damaging |
Het |
| Ankar |
C |
T |
1: 72,697,808 (GRCm39) |
|
probably null |
Het |
| Armc9 |
A |
G |
1: 86,104,587 (GRCm39) |
M279V |
possibly damaging |
Het |
| Bpifb1 |
C |
T |
2: 154,051,849 (GRCm39) |
T218I |
probably benign |
Het |
| Cacna1f |
A |
C |
X: 7,480,234 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,395,474 (GRCm39) |
|
probably null |
Het |
| Ccdc57 |
A |
T |
11: 120,752,069 (GRCm39) |
C837* |
probably null |
Het |
| Ctbp2 |
G |
A |
7: 132,592,885 (GRCm39) |
A808V |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,268,889 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
C |
14: 99,328,754 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,620,450 (GRCm39) |
F394S |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,005,246 (GRCm39) |
N2336S |
probably damaging |
Het |
| Drap1 |
C |
A |
19: 5,473,871 (GRCm39) |
L66F |
probably damaging |
Het |
| Eif5a2 |
C |
T |
3: 28,847,888 (GRCm39) |
R109C |
probably benign |
Het |
| Enpp1 |
A |
T |
10: 24,553,872 (GRCm39) |
D105E |
probably damaging |
Het |
| Evi5l |
G |
A |
8: 4,241,293 (GRCm39) |
M275I |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,515,246 (GRCm39) |
T1059A |
probably benign |
Het |
| Fndc3c1 |
T |
C |
X: 105,516,340 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
C |
11: 77,396,813 (GRCm39) |
V645A |
possibly damaging |
Het |
| Gm7735 |
T |
A |
16: 88,966,437 (GRCm39) |
C20* |
probably null |
Het |
| Ighv1-42 |
G |
T |
12: 114,900,906 (GRCm39) |
P60T |
probably benign |
Het |
| Jakmip2 |
A |
T |
18: 43,696,350 (GRCm39) |
L533Q |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,550,921 (GRCm39) |
S694P |
probably damaging |
Het |
| Mab21l2 |
C |
T |
3: 86,454,562 (GRCm39) |
R146Q |
possibly damaging |
Het |
| Mmp1b |
A |
T |
9: 7,386,400 (GRCm39) |
S174T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,181,211 (GRCm39) |
Y1132C |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,387,383 (GRCm39) |
H219L |
possibly damaging |
Het |
| Nwd2 |
T |
A |
5: 63,948,996 (GRCm39) |
|
probably null |
Het |
| Obp1a |
A |
C |
X: 77,134,449 (GRCm39) |
M18R |
possibly damaging |
Het |
| Or13a19 |
A |
T |
7: 139,903,505 (GRCm39) |
K298* |
probably null |
Het |
| Or2ag13 |
T |
C |
7: 106,473,180 (GRCm39) |
T91A |
probably benign |
Het |
| Pabpc5 |
T |
A |
X: 118,837,688 (GRCm39) |
M1K |
probably null |
Het |
| Perm1 |
A |
G |
4: 156,302,500 (GRCm39) |
E348G |
probably benign |
Het |
| Pfkfb1 |
T |
C |
X: 149,405,138 (GRCm39) |
F170L |
probably damaging |
Het |
| Pou3f3 |
A |
G |
1: 42,737,686 (GRCm39) |
M461V |
probably benign |
Het |
| Ppfia2 |
G |
A |
10: 106,693,360 (GRCm39) |
D622N |
probably damaging |
Het |
| Prtg |
T |
G |
9: 72,799,606 (GRCm39) |
S801R |
probably damaging |
Het |
| Rars2 |
T |
A |
4: 34,623,404 (GRCm39) |
|
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,790,917 (GRCm39) |
D35G |
probably damaging |
Het |
| Repin1 |
T |
A |
6: 48,574,055 (GRCm39) |
L272Q |
probably damaging |
Het |
| Spmip5 |
C |
A |
19: 58,777,684 (GRCm39) |
R34L |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,655,728 (GRCm39) |
|
probably benign |
Het |
| Tbxa2r |
A |
G |
10: 81,170,320 (GRCm39) |
T269A |
probably benign |
Het |
| Tmem132c |
G |
A |
5: 127,640,466 (GRCm39) |
R879Q |
probably benign |
Het |
| Vmn1r78 |
C |
A |
7: 11,886,407 (GRCm39) |
A6E |
probably benign |
Het |
| Vps45 |
A |
T |
3: 95,941,133 (GRCm39) |
N369K |
probably benign |
Het |
| Vps45 |
T |
C |
3: 95,926,958 (GRCm39) |
I530V |
probably benign |
Het |
| Zkscan16 |
G |
A |
4: 58,956,911 (GRCm39) |
G398R |
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 |
|
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 |
|
R3882: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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation