Incidental Mutation 'IGL01844:Paxip1'
| ID |
178151 |
| 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 # |
IGL01844
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
27945078-27996689 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27956036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 903
(T903A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002291]
|
| AlphaFold |
Q6NZQ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002291
AA Change: T903A
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: T903A
| 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
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
G |
17: 84,989,453 (GRCm39) |
I85T |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,617,356 (GRCm39) |
D391G |
possibly damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,180,781 (GRCm39) |
C83S |
probably benign |
Het |
| Bdh2 |
A |
T |
3: 134,994,080 (GRCm39) |
Q54L |
probably benign |
Het |
| Cep128 |
A |
G |
12: 90,975,628 (GRCm39) |
S1051P |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,396,138 (GRCm39) |
T865A |
probably damaging |
Het |
| Epha8 |
C |
A |
4: 136,658,360 (GRCm39) |
*1005L |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,811,493 (GRCm39) |
V1509A |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,953,833 (GRCm39) |
E161G |
possibly damaging |
Het |
| Hepacam |
T |
A |
9: 37,291,912 (GRCm39) |
V80E |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,772,641 (GRCm39) |
K24E |
probably benign |
Het |
| Itch |
T |
A |
2: 155,014,467 (GRCm39) |
D101E |
possibly damaging |
Het |
| Itch |
T |
A |
2: 155,014,406 (GRCm39) |
F81Y |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,390,373 (GRCm39) |
I115M |
probably damaging |
Het |
| Klf7 |
C |
A |
1: 64,117,933 (GRCm39) |
Q221H |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,857,897 (GRCm39) |
T242A |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,334,485 (GRCm39) |
F4420S |
probably benign |
Het |
| Mthfd2 |
A |
G |
6: 83,288,792 (GRCm39) |
|
probably null |
Het |
| Mtrf1l |
A |
C |
10: 5,764,112 (GRCm39) |
L284V |
probably null |
Het |
| Neb |
C |
T |
2: 52,060,561 (GRCm39) |
V2259I |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,843,814 (GRCm39) |
V198E |
possibly damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,180 (GRCm39) |
M258K |
possibly damaging |
Het |
| Padi1 |
A |
T |
4: 140,556,746 (GRCm39) |
C154S |
probably damaging |
Het |
| Phactr2 |
T |
A |
10: 13,129,181 (GRCm39) |
L292F |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,362,796 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,940,985 (GRCm39) |
|
probably null |
Het |
| Rif1 |
T |
A |
2: 52,002,555 (GRCm39) |
I2003K |
probably benign |
Het |
| Rxfp3 |
A |
T |
15: 11,037,132 (GRCm39) |
V80E |
probably damaging |
Het |
| Sart3 |
T |
A |
5: 113,883,709 (GRCm39) |
K768* |
probably null |
Het |
| Slc35f5 |
C |
T |
1: 125,517,612 (GRCm39) |
T470I |
probably damaging |
Het |
| Smg8 |
A |
T |
11: 86,971,102 (GRCm39) |
Y890N |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,968 (GRCm39) |
V372A |
possibly damaging |
Het |
| Tbc1d30 |
A |
T |
10: 121,103,084 (GRCm39) |
D649E |
probably benign |
Het |
| Tctn3 |
G |
A |
19: 40,600,581 (GRCm39) |
T3I |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,387,177 (GRCm39) |
P1337S |
possibly damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,434,135 (GRCm39) |
*856C |
probably null |
Het |
| Vmn2r61 |
A |
T |
7: 41,909,639 (GRCm39) |
I55F |
probably benign |
Het |
| Zbtb41 |
C |
T |
1: 139,375,065 (GRCm39) |
P842S |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,581,209 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation