Incidental Mutation 'R2234:Paxbp1'
| ID |
239951 |
| 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 |
040235-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R2234 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90831822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 355
(I355M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118522]
[ENSMUST00000145136]
|
| AlphaFold |
P58501 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023698
AA Change: I291M
|
| SMART Domains |
Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: I291M
| 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: I355M
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: I355M
| 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 |
probably benign
Transcript: ENSMUST00000145136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146281
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
A |
G |
1: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
| Adarb1 |
A |
G |
10: 77,153,183 (GRCm39) |
V322A |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,557,777 (GRCm39) |
G37R |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
| Capzb |
T |
A |
4: 138,989,334 (GRCm39) |
D85E |
possibly damaging |
Het |
| Cd81 |
T |
A |
7: 142,620,056 (GRCm39) |
N71K |
probably benign |
Het |
| Cemip |
G |
T |
7: 83,647,770 (GRCm39) |
D103E |
probably benign |
Het |
| Chfr |
A |
G |
5: 110,318,729 (GRCm39) |
K580E |
probably damaging |
Het |
| Chrnb1 |
A |
T |
11: 69,686,428 (GRCm39) |
I64N |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
| Cpb1 |
A |
T |
3: 20,329,629 (GRCm39) |
D32E |
probably benign |
Het |
| Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
| Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,433 (GRCm39) |
K110E |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,198,778 (GRCm39) |
C737R |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
| Eml5 |
A |
C |
12: 98,807,840 (GRCm39) |
D984E |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gm12695 |
C |
T |
4: 96,612,266 (GRCm39) |
R499Q |
probably damaging |
Het |
| Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
probably damaging |
Het |
| Hspa2 |
A |
G |
12: 76,451,419 (GRCm39) |
T38A |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
| Kalrn |
C |
A |
16: 33,996,632 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,763,129 (GRCm39) |
D240G |
probably damaging |
Het |
| Lrrc56 |
T |
A |
7: 140,778,207 (GRCm39) |
D66E |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,914,575 (GRCm39) |
R1052H |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2d4 |
C |
A |
7: 106,543,827 (GRCm39) |
C127F |
probably damaging |
Het |
| Or4c114 |
A |
G |
2: 88,904,592 (GRCm39) |
L281P |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
| Or7g19 |
A |
T |
9: 18,856,112 (GRCm39) |
H56L |
probably damaging |
Het |
| Or8k39 |
A |
G |
2: 86,563,921 (GRCm39) |
F12L |
possibly damaging |
Het |
| Pax8 |
A |
G |
2: 24,333,114 (GRCm39) |
I77T |
probably damaging |
Het |
| Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,061,147 (GRCm39) |
I2952N |
probably damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,780 (GRCm39) |
I108M |
possibly damaging |
Het |
| Rabepk |
A |
T |
2: 34,685,246 (GRCm39) |
I58N |
possibly damaging |
Het |
| Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
| Scap |
T |
C |
9: 110,210,661 (GRCm39) |
C998R |
probably damaging |
Het |
| Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
| Sf3a2 |
G |
T |
10: 80,638,663 (GRCm39) |
A95S |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,744,064 (GRCm39) |
Y40N |
probably damaging |
Het |
| Ssc5d |
A |
G |
7: 4,946,849 (GRCm39) |
T1068A |
probably benign |
Het |
| Stambp |
A |
G |
6: 83,528,960 (GRCm39) |
S362P |
probably damaging |
Het |
| Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
| Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
| Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
| Tnk1 |
C |
T |
11: 69,746,017 (GRCm39) |
|
probably null |
Het |
| Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
| Uck1 |
T |
C |
2: 32,148,315 (GRCm39) |
D167G |
probably damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
| Xpnpep1 |
T |
G |
19: 53,001,892 (GRCm39) |
D118A |
probably damaging |
Het |
| Xylt2 |
C |
T |
11: 94,560,822 (GRCm39) |
V239M |
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 |
|
|
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 |
|
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'- CCAGAAAGCTAGCAGACAGGTC -3'
(R):5'- ACTATCTTAATTCCTGTGTGGGAAG -3'
Sequencing Primer
(F):5'- CAGGTCTTTAAGAAGTTGATCTGCCC -3'
(R):5'- TGGGAAGTGGGTATAATTTTTGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation