Incidental Mutation 'R9751:Paxbp1'
| ID |
732541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paxbp1
|
| Ensembl Gene |
ENSMUSG00000022974 |
| Gene Name |
PAX3 and PAX7 binding protein 1 |
| Synonyms |
1810007M14Rik, Pax3/7bp, Gcfc1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R9751 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90824188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 515
(S515P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118522]
[ENSMUST00000145136]
|
| AlphaFold |
P58501 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023698
|
| SMART Domains |
Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
| 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: S515P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: S515P
| 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 |
probably benign
Transcript: ENSMUST00000145136
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,881,126 (GRCm39) |
N514D |
probably benign |
Het |
| Adgre1 |
G |
A |
17: 57,757,101 (GRCm39) |
R786H |
probably null |
Het |
| Ankrd7 |
G |
A |
6: 18,868,024 (GRCm39) |
V97I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,889 (GRCm39) |
I54M |
|
Het |
| Bmper |
C |
T |
9: 23,318,009 (GRCm39) |
P543S |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,795,015 (GRCm39) |
M2233K |
possibly damaging |
Het |
| C1s2 |
G |
T |
6: 124,602,553 (GRCm39) |
P553T |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,823,438 (GRCm39) |
V497I |
possibly damaging |
Het |
| Cacng4 |
A |
G |
11: 107,626,019 (GRCm39) |
S191P |
probably damaging |
Het |
| Cd109 |
C |
A |
9: 78,605,442 (GRCm39) |
T1015K |
probably damaging |
Het |
| Clstn2 |
A |
G |
9: 97,339,703 (GRCm39) |
L756P |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,377,887 (GRCm39) |
D1122E |
possibly damaging |
Het |
| Csf2 |
A |
T |
11: 54,140,420 (GRCm39) |
L6* |
probably null |
Het |
| Csnk1g2 |
T |
A |
10: 80,473,745 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Dlg2 |
C |
A |
7: 90,564,731 (GRCm39) |
H116N |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,619,610 (GRCm39) |
S3978L |
probably damaging |
Het |
| Dpp8 |
C |
T |
9: 64,960,453 (GRCm39) |
T328I |
probably null |
Het |
| Dync2i1 |
T |
A |
12: 116,205,403 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,783,911 (GRCm39) |
G2754E |
probably benign |
Het |
| Egf |
C |
A |
3: 129,548,538 (GRCm39) |
V26F |
probably damaging |
Het |
| Eif1ad19 |
T |
C |
12: 87,740,526 (GRCm39) |
N11S |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,565,992 (GRCm39) |
Y414F |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,818,241 (GRCm39) |
I4658T |
probably benign |
Het |
| Hycc1 |
C |
T |
5: 24,196,748 (GRCm39) |
E47K |
probably benign |
Het |
| Igflr1 |
A |
T |
7: 30,266,653 (GRCm39) |
Q167L |
possibly damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,979,168 (GRCm39) |
|
probably null |
Het |
| Mcpt4 |
A |
G |
14: 56,297,511 (GRCm39) |
I215T |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,189,984 (GRCm39) |
Y975C |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,566,419 (GRCm39) |
Y678* |
probably null |
Het |
| Myof |
T |
C |
19: 37,924,818 (GRCm39) |
T1190A |
probably benign |
Het |
| Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,851,195 (GRCm39) |
V796A |
probably damaging |
Het |
| Or4c10b |
C |
T |
2: 89,711,956 (GRCm39) |
T262I |
probably benign |
Het |
| Or4c119 |
C |
T |
2: 88,986,782 (GRCm39) |
V246M |
possibly damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,614 (GRCm39) |
I250L |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,260 (GRCm39) |
V13E |
possibly damaging |
Het |
| Or5p68 |
T |
C |
7: 107,945,645 (GRCm39) |
Y181C |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,165,436 (GRCm39) |
V257A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,717,414 (GRCm39) |
S1401F |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,777,964 (GRCm39) |
K1043E |
probably benign |
Het |
| Rtn4rl2 |
T |
G |
2: 84,711,039 (GRCm39) |
N75T |
probably damaging |
Het |
| Slc35f4 |
A |
G |
14: 49,536,291 (GRCm39) |
I448T |
possibly damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,918 (GRCm39) |
I11T |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,181,680 (GRCm39) |
V351A |
possibly damaging |
Het |
| Trim43b |
A |
T |
9: 88,971,570 (GRCm39) |
D195E |
probably benign |
Het |
| Trim65 |
C |
A |
11: 116,021,564 (GRCm39) |
A90S |
probably benign |
Het |
| Trip11 |
C |
T |
12: 101,850,765 (GRCm39) |
V1100I |
possibly damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,759,012 (GRCm39) |
E295G |
probably null |
Het |
| Ube2g2 |
G |
A |
10: 77,480,307 (GRCm39) |
V138I |
probably benign |
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 |
|
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 |
|
X0026:Paxbp1
|
UTSW |
16 |
90,824,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCATCACTGGACAGGCC -3'
(R):5'- CTAAAACCTGTCTAGTTTACCAGTC -3'
Sequencing Primer
(F):5'- AGGTGATCTGCCATCTGACC -3'
(R):5'- AGTCATTGCAGAATCTTGCCG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation