Incidental Mutation 'R9638:Paxbp1'
| ID |
725845 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R9638 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 90831881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 336
(V336L)
|
| 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: V272L
| 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: V336L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: V336L
| 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 |
|
| 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 |
|---|
| Abca1 |
T |
G |
4: 53,092,806 (GRCm39) |
E326A |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,614,100 (GRCm39) |
N423K |
probably benign |
Het |
| Aldh4a1 |
T |
A |
4: 139,371,427 (GRCm39) |
I447N |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,596,406 (GRCm39) |
D170G |
possibly damaging |
Het |
| Bnc2 |
C |
T |
4: 84,332,492 (GRCm39) |
V75M |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,437,159 (GRCm39) |
C1750F |
probably benign |
Het |
| Cdh10 |
T |
A |
15: 18,964,301 (GRCm39) |
N154K |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,988,687 (GRCm39) |
I223V |
probably damaging |
Het |
| Ces1b |
T |
A |
8: 93,806,534 (GRCm39) |
H4L |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,209,763 (GRCm39) |
F1806I |
unknown |
Het |
| Cwh43 |
T |
A |
5: 73,565,486 (GRCm39) |
V17D |
possibly damaging |
Het |
| Ddx3y |
C |
T |
Y: 1,263,599 (GRCm39) |
G623D |
probably benign |
Het |
| Dtna |
A |
T |
18: 23,744,122 (GRCm39) |
I389L |
probably benign |
Het |
| F830016B08Rik |
A |
G |
18: 60,432,956 (GRCm39) |
D13G |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,403,187 (GRCm39) |
I148V |
probably benign |
Het |
| Fhip1a |
T |
A |
3: 85,568,391 (GRCm39) |
N1043Y |
probably damaging |
Het |
| Fli1 |
T |
C |
9: 32,388,020 (GRCm39) |
Y23C |
probably damaging |
Het |
| Gimap6 |
A |
G |
6: 48,679,424 (GRCm39) |
V204A |
probably benign |
Het |
| Ighv4-1 |
T |
G |
12: 113,911,904 (GRCm39) |
R116S |
probably damaging |
Het |
| Isx |
T |
C |
8: 75,619,566 (GRCm39) |
L239P |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Krt81 |
T |
C |
15: 101,358,856 (GRCm39) |
T299A |
probably benign |
Het |
| Lrrc30 |
A |
G |
17: 67,939,226 (GRCm39) |
L118P |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,118,023 (GRCm39) |
T1290A |
probably benign |
Het |
| Mef2b |
ACCCTCACCC |
ACC |
8: 70,619,506 (GRCm39) |
|
probably null |
Het |
| Meltf |
G |
A |
16: 31,706,409 (GRCm39) |
E298K |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,550,626 (GRCm39) |
E5222D |
probably benign |
Het |
| Nin |
T |
C |
12: 70,067,618 (GRCm39) |
N2003S |
|
Het |
| Or1e23 |
A |
G |
11: 73,407,875 (GRCm39) |
I50T |
probably benign |
Het |
| Or2b4 |
G |
A |
17: 38,116,509 (GRCm39) |
V158M |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,018 (GRCm39) |
L171P |
probably damaging |
Het |
| Palld |
A |
G |
8: 62,002,788 (GRCm39) |
V826A |
unknown |
Het |
| Por |
C |
A |
5: 135,754,615 (GRCm39) |
Q12K |
unknown |
Het |
| Pot1a |
G |
A |
6: 25,750,106 (GRCm39) |
Q519* |
probably null |
Het |
| Psd |
GCC |
GC |
19: 46,301,841 (GRCm39) |
|
probably null |
Het |
| Ptger4 |
A |
G |
15: 5,264,693 (GRCm39) |
F321S |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,890,519 (GRCm39) |
Y438H |
possibly damaging |
Het |
| Rimklb |
A |
T |
6: 122,433,558 (GRCm39) |
N254K |
probably benign |
Het |
| Rpn2 |
A |
T |
2: 157,125,566 (GRCm39) |
T26S |
probably benign |
Het |
| Rtn4rl2 |
A |
T |
2: 84,710,760 (GRCm39) |
L168H |
probably damaging |
Het |
| Scel |
G |
T |
14: 103,779,409 (GRCm39) |
A127S |
possibly damaging |
Het |
| Sema4a |
T |
A |
3: 88,357,066 (GRCm39) |
N302Y |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,234,133 (GRCm39) |
T50A |
possibly damaging |
Het |
| Upf3a |
G |
A |
8: 13,848,343 (GRCm39) |
A380T |
probably benign |
Het |
| Zbtb14 |
G |
A |
17: 69,695,375 (GRCm39) |
E358K |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,618,056 (GRCm39) |
H371L |
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 |
|
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 |
|
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'- AGAAGTTGATCTGCCCTACCTG -3'
(R):5'- ACTATCTTAATTCCTGTGTGGGAAG -3'
Sequencing Primer
(F):5'- AGCTGTCTCTTTACCAAATCAATAG -3'
(R):5'- TGGGAAGTGGGTATAATTTTTGC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation