Incidental Mutation 'R5167:Paxbp1'
ID |
397366 |
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 |
042747-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R5167 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 90819555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000118522
|
SMART Domains |
Protein: ENSMUSP00000113835 Gene: ENSMUSG00000022974
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
|
Meta Mutation Damage Score |
0.9587 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (38/39) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
Calm3 |
T |
C |
7: 16,651,626 (GRCm39) |
D21G |
probably damaging |
Het |
Cldn23 |
C |
T |
8: 36,293,474 (GRCm39) |
V5M |
possibly damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,047,665 (GRCm39) |
S735P |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,628,730 (GRCm39) |
Y1095H |
probably damaging |
Het |
Esr2 |
T |
C |
12: 76,170,048 (GRCm39) |
T427A |
probably benign |
Het |
Fbxo28 |
T |
C |
1: 182,145,558 (GRCm39) |
I177V |
possibly damaging |
Het |
Fubp1 |
T |
C |
3: 151,926,989 (GRCm39) |
L372P |
possibly damaging |
Het |
Glis1 |
G |
A |
4: 107,491,891 (GRCm39) |
G585E |
probably damaging |
Het |
Gm7258 |
T |
C |
7: 128,197,791 (GRCm39) |
|
noncoding transcript |
Het |
Hecw1 |
C |
T |
13: 14,460,242 (GRCm39) |
R613Q |
probably damaging |
Het |
Kif13b |
T |
C |
14: 65,010,384 (GRCm39) |
S1228P |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,900,512 (GRCm39) |
I738V |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,044,983 (GRCm39) |
V892D |
probably damaging |
Het |
Lvrn |
T |
A |
18: 47,013,814 (GRCm39) |
Y499N |
probably damaging |
Het |
Ly9 |
C |
A |
1: 171,432,773 (GRCm39) |
W80L |
probably damaging |
Het |
Lypd5 |
T |
C |
7: 24,051,889 (GRCm39) |
V68A |
possibly damaging |
Het |
Ngdn |
C |
T |
14: 55,259,656 (GRCm39) |
Q236* |
probably null |
Het |
Nudt7 |
C |
A |
8: 114,878,567 (GRCm39) |
C154* |
probably null |
Het |
Obi1 |
A |
G |
14: 104,716,223 (GRCm39) |
S717P |
probably damaging |
Het |
Or14j10 |
C |
A |
17: 37,934,642 (GRCm39) |
E295* |
probably null |
Het |
Or4f14b |
A |
T |
2: 111,775,447 (GRCm39) |
M118K |
probably damaging |
Het |
Or5b117 |
T |
A |
19: 13,431,741 (GRCm39) |
I47F |
probably damaging |
Het |
Pcnt |
G |
T |
10: 76,256,258 (GRCm39) |
Q661K |
probably damaging |
Het |
Plekha1 |
G |
A |
7: 130,487,179 (GRCm39) |
|
probably null |
Het |
Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
Rac3 |
A |
G |
11: 120,613,421 (GRCm39) |
D58G |
probably null |
Het |
Rgl2 |
C |
T |
17: 34,154,948 (GRCm39) |
R203* |
probably null |
Het |
Ryr1 |
T |
C |
7: 28,767,118 (GRCm39) |
D2948G |
probably damaging |
Het |
Serpina12 |
A |
T |
12: 104,004,179 (GRCm39) |
L151Q |
probably damaging |
Het |
Sf3a1 |
T |
C |
11: 4,127,456 (GRCm39) |
V594A |
possibly damaging |
Het |
Spdl1 |
G |
T |
11: 34,704,187 (GRCm39) |
H549N |
possibly damaging |
Het |
Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
Zfp352 |
A |
G |
4: 90,112,453 (GRCm39) |
T198A |
possibly 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 |
|
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 |
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'- GCCTGTGAAGTCAAATATACTGAAGG -3'
(R):5'- ATTGTTGGGTCTCAGGTAACC -3'
Sequencing Primer
(F):5'- TACTGAAGGAAACAAACAACAACTC -3'
(R):5'- TTGGGTCTCAGGTAACCTTATG -3'
|
Posted On |
2016-07-06 |