Incidental Mutation 'R5060:Pax7'
| ID |
386554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax7
|
| Ensembl Gene |
ENSMUSG00000028736 |
| Gene Name |
paired box 7 |
| Synonyms |
Pax-7 |
| MMRRC Submission |
042650-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5060 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139464373-139560839 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139506928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 372
(S372T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030508]
[ENSMUST00000174681]
|
| AlphaFold |
P47239 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030508
AA Change: S370T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000030508
Gene: ENSMUSG00000028736
AA Change: S370T
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
34 |
159 |
2.07e-89 |
SMART |
|
low complexity region
|
163 |
181 |
N/A |
INTRINSIC |
|
HOX
|
215 |
277 |
1.46e-28 |
SMART |
|
Pfam:Pax7
|
342 |
383 |
1.1e-23 |
PFAM |
|
low complexity region
|
413 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174681
AA Change: S372T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000133536
Gene: ENSMUSG00000028736
AA Change: S372T
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
34 |
161 |
1.3e-86 |
SMART |
|
low complexity region
|
165 |
183 |
N/A |
INTRINSIC |
|
HOX
|
217 |
279 |
1.46e-28 |
SMART |
|
Pfam:Pax7
|
345 |
385 |
1.3e-22 |
PFAM |
|
low complexity region
|
415 |
429 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1165 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| 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 this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit craniofacial malformations involving the nose and maxilla, and die within three weeks after birth. Mice homozygous for floxed alleles activated in muscle cells exhibit reduced satellite cell numbers and impaired muscle regeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,474,107 (GRCm39) |
L17Q |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,571,836 (GRCm39) |
|
probably benign |
Het |
| Actg1 |
A |
G |
11: 120,237,839 (GRCm39) |
S234P |
probably benign |
Het |
| Acvr2a |
A |
G |
2: 48,780,311 (GRCm39) |
D177G |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,300,054 (GRCm39) |
C914R |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,298,621 (GRCm39) |
I103T |
possibly damaging |
Het |
| Als2cl |
C |
T |
9: 110,713,205 (GRCm39) |
L32F |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,570 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,225,710 (GRCm39) |
S959R |
possibly damaging |
Het |
| Bnc2 |
C |
A |
4: 84,449,872 (GRCm39) |
A122S |
probably benign |
Het |
| Cert1 |
A |
T |
13: 96,739,663 (GRCm39) |
K226N |
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,875,013 (GRCm39) |
V443M |
probably damaging |
Het |
| Cilk1 |
C |
T |
9: 78,060,978 (GRCm39) |
T208I |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,617,267 (GRCm39) |
R794S |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,049,514 (GRCm39) |
L14P |
unknown |
Het |
| Ggt5 |
T |
C |
10: 75,440,608 (GRCm39) |
M243T |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,124,482 (GRCm39) |
I292T |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,386,355 (GRCm39) |
V341E |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,167 (GRCm39) |
F359S |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,010,441 (GRCm39) |
K340* |
probably null |
Het |
| Heatr9 |
T |
C |
11: 83,403,258 (GRCm39) |
E427G |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,358,195 (GRCm39) |
G102D |
unknown |
Het |
| Mark3 |
T |
C |
12: 111,584,760 (GRCm39) |
F119L |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,350,959 (GRCm39) |
V500A |
probably benign |
Het |
| Mrpl41 |
A |
G |
2: 24,864,295 (GRCm39) |
F126L |
probably damaging |
Het |
| Or10c1 |
C |
A |
17: 37,522,307 (GRCm39) |
A146S |
probably benign |
Het |
| Or6c3b |
C |
T |
10: 129,527,699 (GRCm39) |
M70I |
probably benign |
Het |
| Plcl1 |
G |
T |
1: 55,735,671 (GRCm39) |
M337I |
possibly damaging |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,240,844 (GRCm39) |
Y321C |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,061,389 (GRCm39) |
L252R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,004,063 (GRCm39) |
V1639A |
probably benign |
Het |
| Tff1 |
A |
G |
17: 31,381,682 (GRCm39) |
V65A |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,971,258 (GRCm39) |
D222E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,643,741 (GRCm39) |
D13162E |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,723 (GRCm39) |
S466T |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,683 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,208,323 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
T |
C |
1: 155,204,430 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
A |
G |
4: 136,728,604 (GRCm39) |
V413A |
possibly damaging |
Het |
|
| Other mutations in Pax7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02234:Pax7
|
APN |
4 |
139,555,901 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03005:Pax7
|
APN |
4 |
139,556,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03143:Pax7
|
APN |
4 |
139,556,798 (GRCm39) |
splice site |
probably benign |
|
|
R0266:Pax7
|
UTSW |
4 |
139,507,047 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1843:Pax7
|
UTSW |
4 |
139,511,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Pax7
|
UTSW |
4 |
139,511,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2847:Pax7
|
UTSW |
4 |
139,506,954 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2909:Pax7
|
UTSW |
4 |
139,556,007 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3912:Pax7
|
UTSW |
4 |
139,508,209 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4516:Pax7
|
UTSW |
4 |
139,508,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5060:Pax7
|
UTSW |
4 |
139,556,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5089:Pax7
|
UTSW |
4 |
139,557,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5809:Pax7
|
UTSW |
4 |
139,557,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7367:Pax7
|
UTSW |
4 |
139,507,060 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7485:Pax7
|
UTSW |
4 |
139,511,880 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7823:Pax7
|
UTSW |
4 |
139,468,150 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8333:Pax7
|
UTSW |
4 |
139,557,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Pax7
|
UTSW |
4 |
139,506,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9694:Pax7
|
UTSW |
4 |
139,556,819 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Pax7
|
UTSW |
4 |
139,511,826 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Pax7
|
UTSW |
4 |
139,511,802 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTCTGAGTTCTTAGTGACC -3'
(R):5'- CGACTGGGTGGAGTTTCAAG -3'
Sequencing Primer
(F):5'- GAGTTCTTAGTGACCTTCTCCCCAC -3'
(R):5'- ACTTGCTAAGGACCTCTCTGGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation