Incidental Mutation 'R8280:Paxbp1'
| ID |
638174 |
| 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 |
067703-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R8280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 90831123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 418
(H418N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118522]
[ENSMUST00000145136]
|
| AlphaFold |
P58501 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: H354N
| 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: H418N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: H418N
| 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 |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
G |
11: 72,086,667 (GRCm39) |
V248A |
possibly damaging |
Het |
| Alpk2 |
A |
G |
18: 65,440,274 (GRCm39) |
I373T |
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,352,650 (GRCm39) |
M308K |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,060,851 (GRCm39) |
M3111T |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,344,839 (GRCm39) |
D1095G |
probably damaging |
Het |
| Cacna2d3 |
C |
T |
14: 28,704,328 (GRCm39) |
V818I |
probably benign |
Het |
| Ces1c |
T |
A |
8: 93,825,809 (GRCm39) |
H550L |
possibly damaging |
Het |
| Cluap1 |
A |
G |
16: 3,729,017 (GRCm39) |
|
probably benign |
Het |
| Cped1 |
G |
T |
6: 21,986,820 (GRCm39) |
R4L |
unknown |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,532 (GRCm39) |
I229T |
probably benign |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,713 (GRCm39) |
C169R |
probably damaging |
Het |
| Dip2a |
C |
T |
10: 76,100,610 (GRCm39) |
V1522M |
possibly damaging |
Het |
| Diras2 |
A |
G |
13: 52,661,863 (GRCm39) |
M148T |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,408,538 (GRCm39) |
A3508S |
probably benign |
Het |
| Fam43b |
T |
C |
4: 138,123,281 (GRCm39) |
E13G |
probably damaging |
Het |
| Farsa |
T |
G |
8: 85,587,808 (GRCm39) |
I113S |
probably damaging |
Het |
| Fcrl2 |
G |
T |
3: 87,166,364 (GRCm39) |
S137* |
probably null |
Het |
| Fer1l4 |
T |
C |
2: 155,891,620 (GRCm39) |
D114G |
probably damaging |
Het |
| Gm4181 |
A |
T |
14: 51,868,015 (GRCm39) |
*185R |
probably null |
Het |
| Gm5901 |
G |
A |
7: 105,027,105 (GRCm39) |
|
probably null |
Het |
| Heatr4 |
C |
A |
12: 84,016,670 (GRCm39) |
E532D |
probably benign |
Het |
| Il10 |
C |
T |
1: 130,947,749 (GRCm39) |
P34L |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,522,828 (GRCm39) |
E205G |
possibly damaging |
Het |
| Lilra6 |
A |
G |
7: 3,916,046 (GRCm39) |
L271P |
probably benign |
Het |
| Mlh1 |
A |
T |
9: 111,078,286 (GRCm39) |
|
probably null |
Het |
| Naaa |
T |
C |
5: 92,411,308 (GRCm39) |
Y293C |
probably damaging |
Het |
| Ndufaf7 |
G |
A |
17: 79,251,275 (GRCm39) |
G227R |
possibly damaging |
Het |
| Nmral1 |
A |
G |
16: 4,531,659 (GRCm39) |
S199P |
probably damaging |
Het |
| Or1o11 |
T |
C |
17: 37,756,744 (GRCm39) |
F100L |
probably benign |
Het |
| Or4c122 |
A |
T |
2: 89,079,234 (GRCm39) |
I268K |
probably damaging |
Het |
| Or4k2 |
A |
C |
14: 50,423,723 (GRCm39) |
L318* |
probably null |
Het |
| Or4x6 |
C |
A |
2: 89,949,742 (GRCm39) |
V67L |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,729 (GRCm39) |
I205V |
noncoding transcript |
Het |
| Or8b52 |
T |
A |
9: 38,576,783 (GRCm39) |
Y119F |
probably damaging |
Het |
| Or8g21 |
C |
T |
9: 38,906,075 (GRCm39) |
V219I |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,813,433 (GRCm39) |
Y931C |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,315,372 (GRCm39) |
S239P |
probably benign |
Het |
| Rragd |
A |
G |
4: 32,995,112 (GRCm39) |
R76G |
probably benign |
Het |
| Samd8 |
G |
A |
14: 21,830,219 (GRCm39) |
W278* |
probably null |
Het |
| Slc22a8 |
T |
A |
19: 8,586,627 (GRCm39) |
Y379* |
probably null |
Het |
| Taar8c |
T |
A |
10: 23,976,835 (GRCm39) |
I326F |
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,890,884 (GRCm39) |
S715T |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,055,359 (GRCm39) |
I1M |
unknown |
Het |
| Trio |
A |
G |
15: 27,902,996 (GRCm39) |
I214T |
unknown |
Het |
| Uqcrfs1 |
A |
T |
13: 30,729,071 (GRCm39) |
S54T |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,038,864 (GRCm39) |
T1115A |
probably benign |
Het |
| Zscan4f |
A |
T |
7: 11,251,599 (GRCm39) |
I212F |
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 |
|
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 |
|
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'- ACAAGATGCTCTATGAACGGC -3'
(R):5'- CAGCCAGAAAGATGCATTCCG -3'
Sequencing Primer
(F):5'- GATGCTCTATGAACGGCCACCTAG -3'
(R):5'- GATGCATTCCGAATATTTTCATGTTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation