Incidental Mutation 'R9024:Paxbp1'
| ID |
686446 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R9024 (G1)
|
| Quality Score |
105.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 90840963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 94
(R94C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118522]
|
| AlphaFold |
P58501 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: R30C
| 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: R94C
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: R94C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
C |
A |
3: 137,891,923 (GRCm39) |
A16S |
unknown |
Het |
| Aldh3b1 |
T |
A |
19: 3,968,155 (GRCm39) |
I335F |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,475,025 (GRCm39) |
Y650N |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,789,416 (GRCm39) |
V1524A |
possibly damaging |
Het |
| Ccin |
A |
G |
4: 43,983,562 (GRCm39) |
|
probably benign |
Het |
| Cdk15 |
A |
T |
1: 59,326,957 (GRCm39) |
I213F |
probably damaging |
Het |
| Chfr |
G |
T |
5: 110,306,698 (GRCm39) |
S481I |
probably benign |
Het |
| Coro2a |
T |
C |
4: 46,542,323 (GRCm39) |
D350G |
probably benign |
Het |
| Ctps1 |
C |
A |
4: 120,406,707 (GRCm39) |
E350* |
probably null |
Het |
| Dctn4 |
G |
A |
18: 60,678,894 (GRCm39) |
|
probably null |
Het |
| Epha4 |
C |
A |
1: 77,365,169 (GRCm39) |
R610L |
possibly damaging |
Het |
| Esp4 |
A |
T |
17: 40,911,102 (GRCm39) |
M1L |
unknown |
Het |
| Fads3 |
T |
C |
19: 10,033,839 (GRCm39) |
V408A |
probably damaging |
Het |
| Gm19402 |
T |
A |
10: 77,525,805 (GRCm39) |
K263* |
probably null |
Het |
| Gm26657 |
G |
T |
4: 56,740,769 (GRCm39) |
|
probably benign |
Het |
| Hsdl1 |
A |
G |
8: 120,290,839 (GRCm39) |
V311A |
probably benign |
Het |
| Hsp90b1 |
A |
G |
10: 86,541,174 (GRCm39) |
F16L |
possibly damaging |
Het |
| Icmt |
T |
C |
4: 152,385,161 (GRCm39) |
C208R |
probably damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,643,943 (GRCm39) |
|
probably null |
Het |
| Kif21a |
T |
A |
15: 90,821,399 (GRCm39) |
K1465* |
probably null |
Het |
| Klhl9 |
A |
T |
4: 88,639,999 (GRCm39) |
F81I |
probably damaging |
Het |
| Kynu |
A |
G |
2: 43,490,807 (GRCm39) |
H170R |
possibly damaging |
Het |
| Mmp12 |
A |
G |
9: 7,355,444 (GRCm39) |
Y397C |
probably damaging |
Het |
| Mpped2 |
T |
C |
2: 106,614,043 (GRCm39) |
F126L |
probably benign |
Het |
| Muc2 |
C |
T |
7: 141,287,936 (GRCm39) |
P236S |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,793,295 (GRCm39) |
T1291A |
possibly damaging |
Het |
| Myom2 |
T |
C |
8: 15,113,936 (GRCm39) |
L28P |
probably damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,328,648 (GRCm39) |
*924W |
probably null |
Het |
| Nrip1 |
G |
T |
16: 76,088,388 (GRCm39) |
Y1056* |
probably null |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Oxr1 |
A |
G |
15: 41,694,518 (GRCm39) |
Y20C |
probably damaging |
Het |
| P2ry2 |
T |
C |
7: 100,647,229 (GRCm39) |
T359A |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,783,623 (GRCm39) |
Y569C |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,592,975 (GRCm39) |
T1713A |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,370,176 (GRCm39) |
S56G |
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,197,118 (GRCm39) |
I801T |
possibly damaging |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Pogz |
A |
T |
3: 94,785,543 (GRCm39) |
N833Y |
probably damaging |
Het |
| Polk |
G |
T |
13: 96,623,340 (GRCm39) |
H501N |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,874,567 (GRCm39) |
N1043S |
probably damaging |
Het |
| Rad18 |
A |
T |
6: 112,626,562 (GRCm39) |
C448S |
probably benign |
Het |
| Rhof |
T |
A |
5: 123,269,963 (GRCm39) |
K65* |
probably null |
Het |
| Rpa2 |
T |
C |
4: 132,499,153 (GRCm39) |
V74A |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 110,015,001 (GRCm39) |
M522T |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,769 (GRCm39) |
S92P |
probably benign |
Het |
| Srrt |
C |
A |
5: 137,301,291 (GRCm39) |
R45L |
unknown |
Het |
| Tmem233 |
T |
C |
5: 116,221,057 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tubd1 |
T |
G |
11: 86,445,991 (GRCm39) |
H210Q |
possibly damaging |
Het |
| Usp36 |
T |
C |
11: 118,166,983 (GRCm39) |
N298S |
possibly damaging |
Het |
| Vmn2r63 |
T |
G |
7: 42,577,874 (GRCm39) |
R221S |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,923,470 (GRCm39) |
I3782V |
probably damaging |
Het |
| Zfp184 |
T |
A |
13: 22,143,128 (GRCm39) |
I278N |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCAGGATGGCTGATCAGG -3'
(R):5'- AAGAGACTCCGCCCAAGTAGTG -3'
Sequencing Primer
(F):5'- ACTGCACAGGCCGTAGACTTG -3'
(R):5'- TCGTCCTCTCAGTCAGCGAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation