Incidental Mutation 'R6693:Pax9'
| ID |
528179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax9
|
| Ensembl Gene |
ENSMUSG00000001497 |
| Gene Name |
paired box 9 |
| Synonyms |
Pax-9 |
| MMRRC Submission |
044811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R6693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
56738552-56759607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56756516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 285
(S285T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001538]
[ENSMUST00000044634]
[ENSMUST00000110680]
[ENSMUST00000153250]
[ENSMUST00000217690]
|
| AlphaFold |
P47242 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001538
AA Change: S285T
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000001538
Gene: ENSMUSG00000001497
AA Change: S285T
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
4 |
128 |
6.81e-90 |
SMART |
|
low complexity region
|
265 |
274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044634
|
| SMART Domains |
Protein: ENSMUSP00000039289
Gene: ENSMUSG00000035472
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
10 |
104 |
2.3e-24 |
PFAM |
|
Pfam:Mito_carr
|
107 |
200 |
1.3e-16 |
PFAM |
|
Pfam:Mito_carr
|
202 |
298 |
3.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110680
|
| SMART Domains |
Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
28 |
111 |
4.7e-21 |
PFAM |
|
Pfam:Mito_carr
|
114 |
207 |
7.7e-17 |
PFAM |
|
Pfam:Mito_carr
|
209 |
305 |
2e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152848
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153250
AA Change: S285T
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117928
Gene: ENSMUSG00000001497
AA Change: S285T
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
4 |
128 |
6.81e-90 |
SMART |
|
low complexity region
|
265 |
274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217690
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: 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. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous inactivation of this gene results in abnormal tooth development and absent teeth and may lead to lack of pharyngeal pouch derivatives, athymia, craniofacial and limb anomalies, a small tympanic ring, various defects of the skeleton and musculature, and neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,915 (GRCm39) |
V1368A |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,942,497 (GRCm39) |
S680L |
unknown |
Het |
| Adam25 |
A |
T |
8: 41,207,568 (GRCm39) |
N278I |
probably damaging |
Het |
| Adamtsl1 |
C |
A |
4: 86,261,123 (GRCm39) |
H1111Q |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,590,587 (GRCm39) |
N195Y |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,357,343 (GRCm39) |
N436S |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,956,445 (GRCm39) |
I1045V |
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,458 (GRCm39) |
N526S |
probably benign |
Het |
| Cpeb2 |
A |
T |
5: 43,443,255 (GRCm39) |
D982V |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,617,112 (GRCm39) |
I130V |
probably benign |
Het |
| Glb1l |
T |
C |
1: 75,185,745 (GRCm39) |
D61G |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,386,258 (GRCm39) |
C3737Y |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,278,965 (GRCm39) |
M39L |
probably benign |
Het |
| Kif17 |
C |
A |
4: 138,013,791 (GRCm39) |
Q236K |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,561 (GRCm39) |
V184A |
possibly damaging |
Het |
| Lmf1 |
A |
T |
17: 25,864,252 (GRCm39) |
M287L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,601 (GRCm39) |
T822A |
possibly damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,245 (GRCm39) |
T392S |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,153,013 (GRCm39) |
N215K |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
| Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,733,652 (GRCm39) |
Y123H |
probably damaging |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,394 (GRCm39) |
T209S |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,330,100 (GRCm39) |
|
probably null |
Het |
| Rbak |
T |
C |
5: 143,159,866 (GRCm39) |
K396E |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,088 (GRCm39) |
V545A |
probably benign |
Het |
| Scg2 |
G |
T |
1: 79,413,737 (GRCm39) |
Q329K |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,088,617 (GRCm39) |
A456T |
possibly damaging |
Het |
| Slc12a7 |
G |
T |
13: 73,945,656 (GRCm39) |
A489S |
probably benign |
Het |
| Slc16a4 |
T |
C |
3: 107,210,380 (GRCm39) |
I350T |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,930,162 (GRCm39) |
V44A |
possibly damaging |
Het |
| Sucla2 |
T |
A |
14: 73,806,107 (GRCm39) |
L102* |
probably null |
Het |
| Tgif1 |
T |
A |
17: 71,157,885 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,669,837 (GRCm39) |
E111G |
probably benign |
Het |
| Zfp971 |
G |
T |
2: 177,675,224 (GRCm39) |
K274N |
probably benign |
Het |
|
| Other mutations in Pax9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Pax9
|
APN |
12 |
56,746,860 (GRCm39) |
missense |
probably benign |
|
|
IGL02724:Pax9
|
APN |
12 |
56,756,604 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0008:Pax9
|
UTSW |
12 |
56,756,528 (GRCm39) |
missense |
probably benign |
|
|
R0008:Pax9
|
UTSW |
12 |
56,756,528 (GRCm39) |
missense |
probably benign |
|
|
R1836:Pax9
|
UTSW |
12 |
56,746,839 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1916:Pax9
|
UTSW |
12 |
56,743,923 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2907:Pax9
|
UTSW |
12 |
56,756,529 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3778:Pax9
|
UTSW |
12 |
56,743,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Pax9
|
UTSW |
12 |
56,743,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Pax9
|
UTSW |
12 |
56,756,480 (GRCm39) |
missense |
probably benign |
|
|
R6469:Pax9
|
UTSW |
12 |
56,743,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Pax9
|
UTSW |
12 |
56,742,647 (GRCm39) |
start codon destroyed |
probably null |
0.48 |
|
R7739:Pax9
|
UTSW |
12 |
56,746,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7807:Pax9
|
UTSW |
12 |
56,743,850 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8458:Pax9
|
UTSW |
12 |
56,743,550 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTACCCTTAGGTCAAAGTAAG -3'
(R):5'- ATCAGAGTGCAGAAGCGGTC -3'
Sequencing Primer
(F):5'- AGGGCTGTTAACTCCCTCAG -3'
(R):5'- AGCGGTCACAGAATGGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation