Incidental Mutation 'R6422:Paxbp1'
ID |
518225 |
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 |
044563-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R6422 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90820332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 697
(M697K)
|
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: M697K
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000113835 Gene: ENSMUSG00000022974 AA Change: M697K
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: ENSMUST00000128922
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145136
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146281
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150397
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.8%
|
Validation Efficiency |
97% (30/31) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430005L14Rik |
T |
A |
4: 154,045,381 (GRCm39) |
F137I |
probably damaging |
Het |
Adam11 |
A |
G |
11: 102,665,109 (GRCm39) |
K417R |
possibly damaging |
Het |
Btbd9 |
G |
A |
17: 30,749,230 (GRCm39) |
A28V |
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,492,626 (GRCm39) |
Y1890H |
probably damaging |
Het |
Castor2 |
T |
A |
5: 134,164,549 (GRCm39) |
M170K |
probably benign |
Het |
Cep162 |
G |
T |
9: 87,114,069 (GRCm39) |
N334K |
possibly damaging |
Het |
Cep85l |
A |
T |
10: 53,167,876 (GRCm39) |
M634K |
possibly damaging |
Het |
Col20a1 |
C |
A |
2: 180,656,612 (GRCm39) |
T1161N |
possibly damaging |
Het |
Dip2b |
T |
A |
15: 100,096,892 (GRCm39) |
D1155E |
probably damaging |
Het |
Dlst |
T |
A |
12: 85,177,659 (GRCm39) |
|
probably null |
Het |
Dsc1 |
A |
C |
18: 20,228,090 (GRCm39) |
L422R |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,747,603 (GRCm39) |
W1699R |
probably damaging |
Het |
Gm14443 |
G |
A |
2: 175,012,174 (GRCm39) |
Q91* |
probably null |
Het |
Gm8159 |
T |
C |
14: 15,850,210 (GRCm39) |
I143T |
probably damaging |
Het |
Il4i1 |
G |
T |
7: 44,489,560 (GRCm39) |
A442S |
probably damaging |
Het |
Kif26a |
T |
G |
12: 112,135,309 (GRCm39) |
L337R |
possibly damaging |
Het |
Lat2 |
T |
C |
5: 134,632,015 (GRCm39) |
D144G |
probably benign |
Het |
Ndst1 |
G |
T |
18: 60,836,025 (GRCm39) |
H419Q |
probably benign |
Het |
Notch4 |
T |
C |
17: 34,803,533 (GRCm39) |
I1484T |
probably benign |
Het |
Or51v14 |
T |
G |
7: 103,261,221 (GRCm39) |
E113A |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,937,992 (GRCm39) |
Y1246C |
probably damaging |
Het |
Prr5 |
C |
T |
15: 84,578,005 (GRCm39) |
R96C |
probably damaging |
Het |
Ptpn7 |
G |
T |
1: 135,062,240 (GRCm39) |
C62F |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Sall2 |
A |
C |
14: 52,550,181 (GRCm39) |
*1003G |
probably null |
Het |
Slc5a4b |
C |
A |
10: 75,939,696 (GRCm39) |
V147F |
probably damaging |
Het |
Snapc4 |
A |
G |
2: 26,258,315 (GRCm39) |
W702R |
probably benign |
Het |
Tbc1d32 |
A |
T |
10: 55,904,157 (GRCm39) |
C1203* |
probably null |
Het |
Tmprss11d |
T |
A |
5: 86,457,284 (GRCm39) |
Y125F |
probably damaging |
Het |
Tpp1 |
G |
A |
7: 105,396,163 (GRCm39) |
T512I |
probably benign |
Het |
Tyw5 |
G |
A |
1: 57,440,570 (GRCm39) |
A64V |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATAACCACCCATTCTCTTAAACTCTG -3'
(R):5'- TGAGCTTCTGGGGTAACATCC -3'
Sequencing Primer
(F):5'- ACTCTGGCTCATTTTCAAAAGAAG -3'
(R):5'- CATCCATTAATCAGTGAGGTCCGG -3'
|
Posted On |
2018-05-24 |