Incidental Mutation 'R7225:Paxbp1'
ID |
562120 |
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 |
045297-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R7225 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90823956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 564
(E564G)
|
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 damaging
Transcript: ENSMUST00000118522
AA Change: E564G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113835 Gene: ENSMUSG00000022974 AA Change: E564G
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (62/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
T |
C |
12: 110,637,299 (GRCm39) |
|
probably benign |
Het |
5730480H06Rik |
T |
A |
5: 48,537,575 (GRCm39) |
|
probably null |
Het |
Actn4 |
A |
T |
7: 28,598,124 (GRCm39) |
V492D |
probably damaging |
Het |
Alpk2 |
T |
C |
18: 65,438,270 (GRCm39) |
E1041G |
probably benign |
Het |
Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
Cd22 |
C |
T |
7: 30,577,059 (GRCm39) |
A83T |
not run |
Het |
Cdan1 |
T |
C |
2: 120,555,393 (GRCm39) |
T783A |
probably benign |
Het |
Cdh9 |
C |
T |
15: 16,856,159 (GRCm39) |
S733F |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,740,236 (GRCm39) |
F2282S |
unknown |
Het |
Chst9 |
T |
C |
18: 15,585,718 (GRCm39) |
K282E |
probably damaging |
Het |
Clcn1 |
G |
A |
6: 42,270,396 (GRCm39) |
D232N |
probably damaging |
Het |
Clpb |
T |
A |
7: 101,360,672 (GRCm39) |
L234Q |
probably damaging |
Het |
Cluh |
T |
G |
11: 74,557,232 (GRCm39) |
|
probably null |
Het |
Cnp |
C |
T |
11: 100,471,413 (GRCm39) |
Q352* |
probably null |
Het |
Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
Dtx3 |
C |
T |
10: 127,027,358 (GRCm39) |
C272Y |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,142,756 (GRCm39) |
I1156T |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,055,917 (GRCm39) |
V1697E |
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,390,058 (GRCm39) |
D211G |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,454,988 (GRCm39) |
K36R |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,034,325 (GRCm39) |
I2659T |
possibly damaging |
Het |
Fer1l5 |
T |
C |
1: 36,460,033 (GRCm39) |
W1893R |
possibly damaging |
Het |
Gorasp2 |
T |
A |
2: 70,514,391 (GRCm39) |
L256Q |
probably damaging |
Het |
Gpc5 |
T |
G |
14: 115,789,710 (GRCm39) |
V528G |
probably damaging |
Het |
Gria2 |
T |
A |
3: 80,709,938 (GRCm39) |
|
probably benign |
Het |
Htatip2 |
A |
G |
7: 49,420,604 (GRCm39) |
E150G |
possibly damaging |
Het |
Jak3 |
C |
A |
8: 72,138,155 (GRCm39) |
Q869K |
probably benign |
Het |
Jmjd1c |
T |
C |
10: 67,061,844 (GRCm39) |
V1218A |
probably benign |
Het |
Kcnf1 |
A |
G |
12: 17,225,694 (GRCm39) |
C176R |
possibly damaging |
Het |
Kcnq4 |
A |
G |
4: 120,604,111 (GRCm39) |
V88A |
probably benign |
Het |
Lmod3 |
T |
A |
6: 97,224,345 (GRCm39) |
D492V |
probably benign |
Het |
Lurap1l |
A |
C |
4: 80,829,718 (GRCm39) |
S43R |
probably benign |
Het |
Mamdc4 |
T |
C |
2: 25,455,558 (GRCm39) |
H890R |
possibly damaging |
Het |
Mertk |
T |
G |
2: 128,643,482 (GRCm39) |
N960K |
possibly damaging |
Het |
Nudt9 |
C |
A |
5: 104,212,966 (GRCm39) |
D346E |
probably benign |
Het |
Obi1 |
T |
C |
14: 104,717,294 (GRCm39) |
T360A |
probably benign |
Het |
Opa1 |
A |
G |
16: 29,432,857 (GRCm39) |
|
probably null |
Het |
Or5an1 |
A |
T |
19: 12,260,831 (GRCm39) |
T140S |
probably benign |
Het |
Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
Pcdhb13 |
C |
T |
18: 37,577,490 (GRCm39) |
R623C |
possibly damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,410,337 (GRCm39) |
V2615F |
probably damaging |
Het |
Plin3 |
T |
C |
17: 56,593,541 (GRCm39) |
T58A |
possibly damaging |
Het |
Por |
A |
G |
5: 135,761,441 (GRCm39) |
D309G |
probably benign |
Het |
Ppp2r5e |
T |
C |
12: 75,515,353 (GRCm39) |
K261R |
probably damaging |
Het |
Ptpn18 |
C |
T |
1: 34,511,927 (GRCm39) |
T366I |
possibly damaging |
Het |
Ptprz1 |
G |
A |
6: 23,000,928 (GRCm39) |
G1006E |
possibly damaging |
Het |
Rpl12 |
C |
T |
2: 32,851,909 (GRCm39) |
|
probably benign |
Het |
Rpsa |
T |
G |
9: 119,960,222 (GRCm39) |
F262V |
probably benign |
Het |
Sh3pxd2a |
G |
T |
19: 47,255,828 (GRCm39) |
N991K |
probably damaging |
Het |
Shank2 |
T |
A |
7: 143,838,762 (GRCm39) |
N19K |
probably benign |
Het |
Sik1 |
T |
C |
17: 32,073,274 (GRCm39) |
T61A |
probably benign |
Het |
Sipa1l3 |
A |
C |
7: 29,098,853 (GRCm39) |
V472G |
probably damaging |
Het |
Sirt6 |
A |
G |
10: 81,458,315 (GRCm39) |
S313P |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,912,081 (GRCm39) |
|
probably benign |
Het |
Sox13 |
A |
T |
1: 133,314,862 (GRCm39) |
V266E |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,988,184 (GRCm39) |
C833R |
probably damaging |
Het |
Tcof1 |
T |
C |
18: 60,961,520 (GRCm39) |
T812A |
unknown |
Het |
Tnfsf4 |
A |
G |
1: 161,244,821 (GRCm39) |
D170G |
possibly damaging |
Het |
Tshz3 |
A |
G |
7: 36,469,082 (GRCm39) |
N357S |
probably damaging |
Het |
Txk |
C |
T |
5: 72,858,057 (GRCm39) |
D418N |
probably damaging |
Het |
Ube2j2 |
A |
G |
4: 156,033,773 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
G |
A |
10: 130,222,552 (GRCm39) |
P556L |
probably damaging |
Het |
Zfp1007 |
T |
C |
5: 109,825,015 (GRCm39) |
H145R |
possibly damaging |
Het |
Zfp442 |
T |
C |
2: 150,250,925 (GRCm39) |
N326D |
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 |
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'- TTCAGTACTGCGGACCACAG -3'
(R):5'- GAAGCCAGGAGGTGATTCTG -3'
Sequencing Primer
(F):5'- TTCCTCAGAGCTGACAGCCTG -3'
(R):5'- GAAAATACTGGCTGTGTCTTACTAGG -3'
|
Posted On |
2019-06-26 |