Incidental Mutation 'IGL02527:Paxbp1'
| ID |
297140 |
| 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: 0.957)
|
| Stock # |
IGL02527
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90834161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 208
(N208K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118522]
|
| AlphaFold |
P58501 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023698
AA Change: N144K
|
| SMART Domains |
Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: N144K
| 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 |
possibly damaging
Transcript: ENSMUST00000118522
AA Change: N208K
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: N208K
| 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
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,638,392 (GRCm39) |
V868A |
probably damaging |
Het |
| Adam25 |
T |
A |
8: 41,206,785 (GRCm39) |
I17K |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,650 (GRCm39) |
M123K |
probably benign |
Het |
| Asic3 |
A |
G |
5: 24,621,275 (GRCm39) |
M332V |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,042,712 (GRCm39) |
M1126K |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,334,966 (GRCm39) |
T818A |
probably damaging |
Het |
| Cda |
G |
A |
4: 138,070,832 (GRCm39) |
Q104* |
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,680,783 (GRCm39) |
N245S |
probably damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,009,635 (GRCm39) |
D234G |
probably damaging |
Het |
| Cpq |
A |
G |
15: 33,302,509 (GRCm39) |
Y220C |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,047,795 (GRCm39) |
K1026R |
possibly damaging |
Het |
| Dpep1 |
T |
C |
8: 123,925,487 (GRCm39) |
F47L |
probably damaging |
Het |
| Dppa4 |
G |
T |
16: 48,109,456 (GRCm39) |
R66L |
possibly damaging |
Het |
| Elac1 |
C |
A |
18: 73,880,304 (GRCm39) |
E31* |
probably null |
Het |
| Fggy |
A |
G |
4: 95,585,306 (GRCm39) |
K62E |
probably damaging |
Het |
| Ficd |
T |
A |
5: 113,875,027 (GRCm39) |
M32K |
probably benign |
Het |
| Foxd4 |
A |
G |
19: 24,877,178 (GRCm39) |
S341P |
probably benign |
Het |
| Gnb4 |
G |
T |
3: 32,644,015 (GRCm39) |
T181K |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,900,389 (GRCm39) |
Y164F |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,598,932 (GRCm39) |
L564P |
probably damaging |
Het |
| Hsd17b4 |
G |
A |
18: 50,293,231 (GRCm39) |
V257I |
probably benign |
Het |
| Itga10 |
C |
A |
3: 96,562,940 (GRCm39) |
|
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,707 (GRCm39) |
V284A |
probably damaging |
Het |
| Klf11 |
T |
A |
12: 24,705,322 (GRCm39) |
S259T |
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,739,628 (GRCm39) |
|
probably benign |
Het |
| Manea |
A |
G |
4: 26,336,619 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
T |
C |
1: 9,760,373 (GRCm39) |
H75R |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,153,959 (GRCm39) |
T2384M |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,039,225 (GRCm39) |
I6938T |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,101,697 (GRCm39) |
D412G |
probably benign |
Het |
| Olah |
T |
C |
2: 3,343,979 (GRCm39) |
E211G |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,249,181 (GRCm39) |
L261S |
probably damaging |
Het |
| Prrc1 |
T |
A |
18: 57,522,419 (GRCm39) |
M417K |
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,522,424 (GRCm39) |
T543M |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,804,469 (GRCm39) |
V447A |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,035,968 (GRCm39) |
E287G |
probably benign |
Het |
| Rusf1 |
T |
A |
7: 127,875,403 (GRCm39) |
T317S |
possibly damaging |
Het |
| Tec |
A |
G |
5: 72,936,758 (GRCm39) |
|
probably null |
Het |
| Tex26 |
A |
G |
5: 149,380,407 (GRCm39) |
D61G |
probably damaging |
Het |
| Tgfb1i1 |
G |
A |
7: 127,851,734 (GRCm39) |
|
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,436,675 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Tmem63a |
T |
A |
1: 180,780,539 (GRCm39) |
|
probably null |
Het |
| Umod |
C |
T |
7: 119,068,690 (GRCm39) |
G452D |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,838,776 (GRCm39) |
T2256I |
possibly damaging |
Het |
| Vmn1r31 |
A |
T |
6: 58,449,778 (GRCm39) |
I29K |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,199 (GRCm39) |
Y403H |
possibly damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,286,764 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,724 (GRCm39) |
K320M |
possibly 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 |
|
IGL02661:Paxbp1
|
APN |
16 |
90,827,413 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02796:Paxbp1
|
APN |
16 |
90,822,182 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03336:Paxbp1
|
APN |
16 |
90,831,060 (GRCm39) |
missense |
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 |
2015-04-16 |
Incidental Mutation