Incidental Mutation 'R2473:Pax3'
| ID |
253197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax3
|
| Ensembl Gene |
ENSMUSG00000004872 |
| Gene Name |
paired box 3 |
| Synonyms |
Splchl2, Pax-3 |
| MMRRC Submission |
040404-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.822)
|
| Stock # |
R2473 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
78077904-78173771 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 78099227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004994]
[ENSMUST00000087086]
|
| AlphaFold |
P24610 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004994
|
| SMART Domains |
Protein: ENSMUSP00000004994
Gene: ENSMUSG00000004872
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
34 |
159 |
1.99e-91 |
SMART |
|
low complexity region
|
164 |
185 |
N/A |
INTRINSIC |
|
HOX
|
219 |
281 |
6.6e-27 |
SMART |
|
Pfam:Pax7
|
347 |
391 |
5.9e-29 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000087086
|
| SMART Domains |
Protein: ENSMUSP00000084320
Gene: ENSMUSG00000004872
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
34 |
159 |
1.99e-91 |
SMART |
|
low complexity region
|
164 |
185 |
N/A |
INTRINSIC |
|
HOX
|
219 |
281 |
6.6e-27 |
SMART |
|
Pfam:Pax7
|
346 |
391 |
5.3e-27 |
PFAM |
|
| Meta Mutation Damage Score |
0.9480 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
PHENOTYPE: Effects on homozygotes for mutations in this gene vary in severity and include embryonic to perinatal death, malformations of neural tube, spinal ganglia, heart, vertebral column, hindbrain and limb musculature. Heterozygotes have white belly spots and variable spotting on the back and extremeties. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b4 |
T |
G |
2: 126,200,814 (GRCm39) |
K785Q |
possibly damaging |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,392,404 (GRCm39) |
I184F |
possibly damaging |
Het |
| Ephb4 |
T |
A |
5: 137,363,962 (GRCm39) |
D611E |
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,276,464 (GRCm39) |
V13M |
possibly damaging |
Het |
| Mamdc4 |
C |
A |
2: 25,456,344 (GRCm39) |
G713V |
probably damaging |
Het |
| Marveld2 |
C |
T |
13: 100,733,829 (GRCm39) |
V269M |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,169,353 (GRCm39) |
M1508K |
probably benign |
Het |
| Mgp |
T |
C |
6: 136,850,162 (GRCm39) |
|
probably null |
Het |
| Mucl2 |
C |
G |
15: 103,927,628 (GRCm39) |
E110Q |
possibly damaging |
Het |
| Mxra8 |
T |
C |
4: 155,926,500 (GRCm39) |
F286S |
probably damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,401 (GRCm39) |
T244A |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,137,236 (GRCm39) |
S229P |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,146 (GRCm39) |
Y7H |
possibly damaging |
Het |
| Or5p70 |
C |
T |
7: 107,994,711 (GRCm39) |
A128V |
probably damaging |
Het |
| Polm |
T |
C |
11: 5,779,881 (GRCm39) |
E339G |
possibly damaging |
Het |
| Sec14l4 |
T |
A |
11: 3,993,359 (GRCm39) |
V218E |
probably benign |
Het |
| Sf3b1 |
C |
T |
1: 55,038,785 (GRCm39) |
|
probably null |
Het |
| Six4 |
A |
G |
12: 73,150,949 (GRCm39) |
V532A |
probably benign |
Het |
| Slc35c1 |
T |
A |
2: 92,285,098 (GRCm39) |
D172V |
probably benign |
Het |
| Ttc39a |
A |
T |
4: 109,299,436 (GRCm39) |
I428F |
probably damaging |
Het |
| Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pax3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01642:Pax3
|
APN |
1 |
78,173,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02249:Pax3
|
APN |
1 |
78,171,962 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02271:Pax3
|
APN |
1 |
78,171,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Pax3
|
APN |
1 |
78,108,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02530:Pax3
|
APN |
1 |
78,098,424 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02950:Pax3
|
APN |
1 |
78,079,997 (GRCm39) |
missense |
probably benign |
0.06 |
|
Nidoqueen
|
UTSW |
1 |
78,108,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Widget
|
UTSW |
1 |
78,099,227 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0049:Pax3
|
UTSW |
1 |
78,080,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Pax3
|
UTSW |
1 |
78,080,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Pax3
|
UTSW |
1 |
78,172,078 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1575:Pax3
|
UTSW |
1 |
78,080,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1831:Pax3
|
UTSW |
1 |
78,108,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Pax3
|
UTSW |
1 |
78,080,117 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2420:Pax3
|
UTSW |
1 |
78,173,501 (GRCm39) |
splice site |
probably null |
|
|
R4430:Pax3
|
UTSW |
1 |
78,171,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4693:Pax3
|
UTSW |
1 |
78,173,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4818:Pax3
|
UTSW |
1 |
78,108,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Pax3
|
UTSW |
1 |
78,169,093 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4860:Pax3
|
UTSW |
1 |
78,169,093 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5302:Pax3
|
UTSW |
1 |
78,098,249 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5475:Pax3
|
UTSW |
1 |
78,080,055 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5855:Pax3
|
UTSW |
1 |
78,098,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6102:Pax3
|
UTSW |
1 |
78,108,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Pax3
|
UTSW |
1 |
78,169,186 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6856:Pax3
|
UTSW |
1 |
78,109,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Pax3
|
UTSW |
1 |
78,170,648 (GRCm39) |
splice site |
probably null |
|
|
R7547:Pax3
|
UTSW |
1 |
78,099,231 (GRCm39) |
nonsense |
probably null |
|
|
R8059:Pax3
|
UTSW |
1 |
78,080,003 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8224:Pax3
|
UTSW |
1 |
78,098,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Pax3
|
UTSW |
1 |
78,172,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Pax3
|
UTSW |
1 |
78,170,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9319:Pax3
|
UTSW |
1 |
78,080,079 (GRCm39) |
missense |
probably benign |
|
|
R9759:Pax3
|
UTSW |
1 |
78,170,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pax3
|
UTSW |
1 |
78,099,227 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATGTTACATTGCATTGCATTG -3'
(R):5'- TCCATAGGTCTGGTTTAGCAAC -3'
Sequencing Primer
(F):5'- TGATGCTACATCACTTCAAGTGCAG -3'
(R):5'- TTTAGCAACCGCCGTGCAAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation