Incidental Mutation 'IGL02418:Paxbp1'
| ID |
292518 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Paxbp1
|
| Ensembl Gene |
ENSMUSG00000022974 |
| Gene Name |
PAX3 and PAX7 binding protein 1 |
| Synonyms |
1810007M14Rik, Pax3/7bp, Gcfc1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL02418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 90831000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 459
(C459G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118522]
[ENSMUST00000145136]
|
| AlphaFold |
P58501 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000023698
AA Change: C395G
|
| SMART Domains |
Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
AA Change: C395G
| 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: C459G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: C459G
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,424,479 (GRCm39) |
|
probably benign |
Het |
| Acsbg2 |
A |
G |
17: 57,156,730 (GRCm39) |
V436A |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,885,648 (GRCm39) |
D156G |
probably damaging |
Het |
| Arhgap21 |
G |
A |
2: 20,885,711 (GRCm39) |
R489C |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,490,620 (GRCm39) |
|
probably benign |
Het |
| Bbs5 |
T |
G |
2: 69,485,849 (GRCm39) |
*89G |
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,493,359 (GRCm39) |
Y794F |
possibly damaging |
Het |
| Ces3b |
T |
C |
8: 105,812,279 (GRCm39) |
V176A |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,642,461 (GRCm39) |
H105R |
probably benign |
Het |
| Chat |
C |
T |
14: 32,168,906 (GRCm39) |
V210I |
possibly damaging |
Het |
| Chd1l |
A |
G |
3: 97,488,415 (GRCm39) |
S534P |
probably benign |
Het |
| Cyb5rl |
T |
C |
4: 106,928,182 (GRCm39) |
L106P |
probably damaging |
Het |
| Cyp21a1 |
A |
G |
17: 35,023,162 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,495,679 (GRCm39) |
C1436R |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,361 (GRCm39) |
F130I |
probably benign |
Het |
| Fryl |
T |
A |
5: 73,267,519 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,671,994 (GRCm39) |
V428A |
probably benign |
Het |
| Ganab |
A |
G |
19: 8,888,433 (GRCm39) |
D496G |
probably null |
Het |
| Gapvd1 |
T |
C |
2: 34,620,530 (GRCm39) |
T44A |
probably benign |
Het |
| Gm17093 |
T |
A |
14: 44,758,185 (GRCm39) |
M122K |
unknown |
Het |
| Gm5356 |
A |
T |
8: 89,914,064 (GRCm39) |
|
noncoding transcript |
Het |
| Gmppa |
G |
T |
1: 75,415,664 (GRCm39) |
G126C |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,467,656 (GRCm39) |
H37R |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,914 (GRCm39) |
I349V |
probably benign |
Het |
| Lrrc42 |
A |
T |
4: 107,100,533 (GRCm39) |
Y159* |
probably null |
Het |
| Naa16 |
C |
A |
14: 79,620,806 (GRCm39) |
R57L |
probably damaging |
Het |
| Ntmt2 |
A |
T |
1: 163,530,725 (GRCm39) |
V238E |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,787 (GRCm39) |
Y35C |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,454,200 (GRCm39) |
H21Q |
probably damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,284 (GRCm39) |
Y47C |
probably damaging |
Het |
| Pnp2 |
C |
T |
14: 51,201,293 (GRCm39) |
R222C |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,556,883 (GRCm39) |
D1652G |
probably damaging |
Het |
| Saxo5 |
T |
A |
8: 3,526,080 (GRCm39) |
F78I |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,049,075 (GRCm39) |
|
probably benign |
Het |
| Spata4 |
C |
A |
8: 55,062,978 (GRCm39) |
N294K |
probably benign |
Het |
| Tcp11l2 |
T |
A |
10: 84,449,470 (GRCm39) |
Y478* |
probably null |
Het |
| Tcte1 |
T |
A |
17: 45,852,128 (GRCm39) |
S454T |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 60,335,598 (GRCm39) |
V105I |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,829,765 (GRCm39) |
I200N |
probably benign |
Het |
| Tpgs1 |
G |
A |
10: 79,505,289 (GRCm39) |
V16M |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,797,447 (GRCm39) |
T539K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,293,557 (GRCm39) |
S2542G |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,380,864 (GRCm39) |
L343H |
probably damaging |
Het |
| Zmat2 |
T |
A |
18: 36,927,392 (GRCm39) |
Y21N |
probably damaging |
Het |
| Zyx |
C |
T |
6: 42,334,327 (GRCm39) |
A517V |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation