Incidental Mutation 'IGL03336:Paxbp1'
| ID |
417027 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Paxbp1
|
| Ensembl Gene |
ENSMUSG00000022974 |
| Gene Name |
PAX3 and PAX7 binding protein 1 |
| Synonyms |
1810007M14Rik, Pax3/7bp, Gcfc1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL03336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90831060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 439
(I439V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118522]
[ENSMUST00000145136]
|
| AlphaFold |
P58501 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023698
AA Change: I375V
|
| SMART Domains |
Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: I375V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118522
AA Change: I439V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: I439V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
546 |
N/A |
INTRINSIC |
|
Pfam:GCFC
|
597 |
812 |
5.1e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146281
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,888,251 (GRCm39) |
V63A |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,618,582 (GRCm39) |
S1757P |
probably benign |
Het |
| Atp8a1 |
G |
T |
5: 67,887,150 (GRCm39) |
Y629* |
probably null |
Het |
| Cenpf |
T |
C |
1: 189,384,844 (GRCm39) |
K2479E |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,791,633 (GRCm39) |
S179* |
probably null |
Het |
| Cmya5 |
A |
G |
13: 93,230,013 (GRCm39) |
S1692P |
possibly damaging |
Het |
| Cyp17a1 |
T |
C |
19: 46,659,474 (GRCm39) |
S119G |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,711 (GRCm39) |
F160L |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,418,100 (GRCm39) |
V3682A |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,175,528 (GRCm39) |
D328Y |
probably damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,542 (GRCm39) |
M60K |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,024,241 (GRCm39) |
T46A |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,505,823 (GRCm39) |
C222Y |
probably benign |
Het |
| Or51k2 |
T |
C |
7: 103,596,616 (GRCm39) |
L281P |
probably damaging |
Het |
| Or6c203 |
T |
C |
10: 129,010,098 (GRCm39) |
E264G |
probably benign |
Het |
| Pcdhb3 |
T |
C |
18: 37,436,014 (GRCm39) |
V660A |
possibly damaging |
Het |
| Pcyt2 |
T |
C |
11: 120,506,758 (GRCm39) |
D32G |
probably damaging |
Het |
| Pdzph1 |
A |
T |
17: 59,281,229 (GRCm39) |
V351D |
probably benign |
Het |
| Ribc2 |
C |
T |
15: 85,017,114 (GRCm39) |
Q51* |
probably null |
Het |
| Scn2a |
A |
G |
2: 65,519,088 (GRCm39) |
E438G |
probably damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,184,785 (GRCm39) |
|
probably benign |
Het |
| Slc5a1 |
G |
A |
5: 33,304,287 (GRCm39) |
V296I |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,560,928 (GRCm39) |
T958S |
probably damaging |
Het |
| Spag8 |
C |
T |
4: 43,652,114 (GRCm39) |
|
probably benign |
Het |
| Susd3 |
A |
C |
13: 49,392,258 (GRCm39) |
S144R |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,907,828 (GRCm39) |
E496G |
possibly damaging |
Het |
| Tbcel |
T |
C |
9: 42,350,427 (GRCm39) |
T269A |
probably benign |
Het |
| Tmem156 |
A |
G |
5: 65,233,107 (GRCm39) |
Y152H |
probably benign |
Het |
| Tmem247 |
A |
G |
17: 87,225,857 (GRCm39) |
E99G |
probably damaging |
Het |
| Tuba3b |
A |
G |
6: 145,565,450 (GRCm39) |
D306G |
possibly damaging |
Het |
| Vps13c |
T |
A |
9: 67,858,924 (GRCm39) |
D2791E |
possibly damaging |
Het |
| Ypel4 |
A |
G |
2: 84,567,871 (GRCm39) |
Y98C |
probably damaging |
Het |
|
| Other mutations in Paxbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Paxbp1
|
APN |
16 |
90,832,804 (GRCm39) |
splice site |
probably benign |
|
|
IGL01705:Paxbp1
|
APN |
16 |
90,813,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02418:Paxbp1
|
APN |
16 |
90,831,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02527:Paxbp1
|
APN |
16 |
90,834,161 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02661:Paxbp1
|
APN |
16 |
90,827,413 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02796:Paxbp1
|
APN |
16 |
90,822,182 (GRCm39) |
unclassified |
probably benign |
|
|
R0016:Paxbp1
|
UTSW |
16 |
90,832,924 (GRCm39) |
splice site |
probably benign |
|
|
R0306:Paxbp1
|
UTSW |
16 |
90,819,003 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0331:Paxbp1
|
UTSW |
16 |
90,834,255 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0724:Paxbp1
|
UTSW |
16 |
90,833,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0944:Paxbp1
|
UTSW |
16 |
90,820,315 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1348:Paxbp1
|
UTSW |
16 |
90,831,904 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1909:Paxbp1
|
UTSW |
16 |
90,841,193 (GRCm39) |
unclassified |
probably benign |
|
|
R2234:Paxbp1
|
UTSW |
16 |
90,831,822 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3156:Paxbp1
|
UTSW |
16 |
90,832,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3819:Paxbp1
|
UTSW |
16 |
90,819,640 (GRCm39) |
unclassified |
probably benign |
|
|
R3910:Paxbp1
|
UTSW |
16 |
90,839,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Paxbp1
|
UTSW |
16 |
90,840,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4109:Paxbp1
|
UTSW |
16 |
90,813,786 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4577:Paxbp1
|
UTSW |
16 |
90,812,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4584:Paxbp1
|
UTSW |
16 |
90,831,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4596:Paxbp1
|
UTSW |
16 |
90,827,435 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4837:Paxbp1
|
UTSW |
16 |
90,831,866 (GRCm39) |
nonsense |
probably null |
|
|
R4877:Paxbp1
|
UTSW |
16 |
90,841,199 (GRCm39) |
unclassified |
probably benign |
|
|
R5079:Paxbp1
|
UTSW |
16 |
90,822,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5086:Paxbp1
|
UTSW |
16 |
90,812,104 (GRCm39) |
unclassified |
probably benign |
|
|
R5167:Paxbp1
|
UTSW |
16 |
90,819,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5291:Paxbp1
|
UTSW |
16 |
90,841,240 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5322:Paxbp1
|
UTSW |
16 |
90,812,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5529:Paxbp1
|
UTSW |
16 |
90,827,401 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5662:Paxbp1
|
UTSW |
16 |
90,834,285 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5814:Paxbp1
|
UTSW |
16 |
90,827,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6422:Paxbp1
|
UTSW |
16 |
90,820,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7225:Paxbp1
|
UTSW |
16 |
90,823,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7495:Paxbp1
|
UTSW |
16 |
90,813,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Paxbp1
|
UTSW |
16 |
90,819,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7895:Paxbp1
|
UTSW |
16 |
90,822,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Paxbp1
|
UTSW |
16 |
90,834,303 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8280:Paxbp1
|
UTSW |
16 |
90,831,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8338:Paxbp1
|
UTSW |
16 |
90,833,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8941:Paxbp1
|
UTSW |
16 |
90,832,815 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9024:Paxbp1
|
UTSW |
16 |
90,840,963 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9363:Paxbp1
|
UTSW |
16 |
90,827,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9638:Paxbp1
|
UTSW |
16 |
90,831,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9638:Paxbp1
|
UTSW |
16 |
90,831,881 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9751:Paxbp1
|
UTSW |
16 |
90,824,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Paxbp1
|
UTSW |
16 |
90,824,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation