Incidental Mutation 'R5814:Paxbp1'
ID |
447708 |
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 |
043396-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R5814 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 90827384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 420
(R420S)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118522]
[ENSMUST00000145136]
|
AlphaFold |
P58501 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023698
AA Change: R420S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000023698 Gene: ENSMUSG00000022974 AA Change: R420S
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 damaging
Transcript: ENSMUST00000118522
AA Change: R484S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113835 Gene: ENSMUSG00000022974 AA Change: R484S
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 |
noncoding transcript
Transcript: ENSMUST00000128922
|
Predicted Effect |
unknown
Transcript: ENSMUST00000145136
AA Change: R7S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146281
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
91% (52/57) |
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 |
4933402N03Rik |
T |
C |
7: 130,740,811 (GRCm39) |
D135G |
probably benign |
Het |
Arrdc3 |
G |
T |
13: 81,038,698 (GRCm39) |
R220L |
possibly damaging |
Het |
Bace1 |
A |
G |
9: 45,771,562 (GRCm39) |
D458G |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,034,880 (GRCm39) |
Y1360C |
probably benign |
Het |
Ccnb1-ps |
T |
C |
7: 41,756,522 (GRCm39) |
|
noncoding transcript |
Het |
Cd209b |
T |
C |
8: 3,973,348 (GRCm39) |
E112G |
probably damaging |
Het |
Cit |
T |
A |
5: 116,117,478 (GRCm39) |
L1176Q |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
Clvs2 |
G |
T |
10: 33,404,503 (GRCm39) |
Q238K |
probably benign |
Het |
Creb3l3 |
C |
T |
10: 80,921,496 (GRCm39) |
V350M |
probably benign |
Het |
Crot |
A |
C |
5: 9,023,996 (GRCm39) |
D373E |
probably damaging |
Het |
Cyp4a12b |
T |
A |
4: 115,289,694 (GRCm39) |
I187N |
probably damaging |
Het |
Degs1l |
G |
A |
1: 180,882,663 (GRCm39) |
V142I |
probably damaging |
Het |
Dnhd1 |
C |
A |
7: 105,369,102 (GRCm39) |
A4291D |
possibly damaging |
Het |
Dnmt3b |
A |
T |
2: 153,514,417 (GRCm39) |
E403D |
probably benign |
Het |
Ect2l |
A |
T |
10: 18,075,757 (GRCm39) |
I43K |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,626,940 (GRCm39) |
|
probably benign |
Het |
Ep400 |
C |
A |
5: 110,843,444 (GRCm39) |
|
probably null |
Het |
Erp27 |
A |
T |
6: 136,888,564 (GRCm39) |
V138E |
possibly damaging |
Het |
Gbp4 |
G |
A |
5: 105,267,785 (GRCm39) |
A487V |
probably benign |
Het |
Gm10142 |
C |
A |
10: 77,551,957 (GRCm39) |
T106N |
probably damaging |
Het |
Gxylt2 |
C |
A |
6: 100,710,196 (GRCm39) |
H112Q |
probably damaging |
Het |
Hexim2 |
G |
A |
11: 103,029,209 (GRCm39) |
R87Q |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,807,305 (GRCm39) |
N399S |
probably benign |
Het |
Ikbke |
T |
A |
1: 131,199,516 (GRCm39) |
I302F |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kdm1b |
A |
G |
13: 47,216,622 (GRCm39) |
|
probably null |
Het |
Krtap19-9a |
T |
C |
16: 88,721,002 (GRCm39) |
|
noncoding transcript |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Mmp10 |
G |
A |
9: 7,503,621 (GRCm39) |
A164T |
possibly damaging |
Het |
Myrip |
G |
A |
9: 120,253,734 (GRCm39) |
G269D |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Pcbp2 |
T |
A |
15: 102,391,597 (GRCm39) |
S38R |
probably damaging |
Het |
Pcf11 |
A |
G |
7: 92,306,922 (GRCm39) |
V1082A |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,269,629 (GRCm39) |
E3305G |
probably damaging |
Het |
Pla2g4c |
T |
A |
7: 13,074,543 (GRCm39) |
W250R |
probably damaging |
Het |
Prune2 |
A |
G |
19: 16,993,725 (GRCm39) |
|
probably null |
Het |
Rpsa |
A |
G |
9: 119,957,551 (GRCm39) |
|
probably benign |
Het |
Sema3e |
A |
G |
5: 14,275,680 (GRCm39) |
I262V |
probably benign |
Het |
Setd2 |
T |
A |
9: 110,396,826 (GRCm39) |
L1663* |
probably null |
Het |
Sh3d19 |
G |
A |
3: 86,033,911 (GRCm39) |
V755I |
probably benign |
Het |
Spag9 |
T |
A |
11: 93,973,654 (GRCm39) |
V14E |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
T |
6: 48,428,818 (GRCm39) |
Q411L |
probably damaging |
Het |
Sycp1 |
A |
C |
3: 102,803,213 (GRCm39) |
S532R |
probably benign |
Het |
Taf6l |
C |
A |
19: 8,752,210 (GRCm39) |
A493S |
probably benign |
Het |
Tsnaxip1 |
A |
G |
8: 106,570,603 (GRCm39) |
D574G |
probably benign |
Het |
Ttll10 |
T |
A |
4: 156,132,084 (GRCm39) |
K117N |
possibly damaging |
Het |
Uqcc5 |
A |
G |
14: 30,846,477 (GRCm39) |
|
probably null |
Het |
Utp4 |
T |
A |
8: 107,638,907 (GRCm39) |
I405K |
probably damaging |
Het |
Vmn2r45 |
T |
A |
7: 8,474,475 (GRCm39) |
Y851F |
probably benign |
Het |
Vps33a |
T |
C |
5: 123,703,119 (GRCm39) |
D168G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACAGTGGCTGCTTGGTTAG -3'
(R):5'- CAGAGTGACTTGCTGCTCTG -3'
Sequencing Primer
(F):5'- CATAACCCAAGTACATGCGTTAC -3'
(R):5'- GACTCCTGCTTATTTTGTCCATAGAG -3'
|
Posted On |
2016-12-15 |