Incidental Mutation 'R6469:Pax9'
ID |
520282 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pax9
|
Ensembl Gene |
ENSMUSG00000001497 |
Gene Name |
paired box 9 |
Synonyms |
Pax-9 |
MMRRC Submission |
044602-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.950)
|
Stock # |
R6469 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
56738552-56759607 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 56743648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 98
(F98L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001538]
[ENSMUST00000153250]
|
AlphaFold |
P47242 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001538
AA Change: F98L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001538 Gene: ENSMUSG00000001497 AA Change: F98L
Domain | Start | End | E-Value | Type |
PAX
|
4 |
128 |
6.81e-90 |
SMART |
low complexity region
|
265 |
274 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152848
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153250
AA Change: F98L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117928 Gene: ENSMUSG00000001497 AA Change: F98L
Domain | Start | End | E-Value | Type |
PAX
|
4 |
128 |
6.81e-90 |
SMART |
low complexity region
|
265 |
274 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159874
|
Meta Mutation Damage Score |
0.9543 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.3%
|
Validation Efficiency |
100% (43/43) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
G |
3: 137,772,736 (GRCm39) |
S642A |
probably damaging |
Het |
Aadacl2 |
A |
T |
3: 59,932,210 (GRCm39) |
T242S |
probably benign |
Het |
Adprh |
T |
C |
16: 38,270,671 (GRCm39) |
M45V |
probably benign |
Het |
Akr1c13 |
T |
C |
13: 4,246,511 (GRCm39) |
|
probably null |
Het |
Ap3d1 |
A |
C |
10: 80,547,992 (GRCm39) |
V900G |
probably benign |
Het |
Bak1 |
G |
A |
17: 27,240,293 (GRCm39) |
R125C |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,562,222 (GRCm39) |
T322A |
possibly damaging |
Het |
Camsap3 |
T |
A |
8: 3,653,941 (GRCm39) |
L521Q |
possibly damaging |
Het |
Col6a6 |
A |
T |
9: 105,575,890 (GRCm39) |
F2157I |
probably damaging |
Het |
Dcun1d4 |
G |
A |
5: 73,691,957 (GRCm39) |
M155I |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 86,893,974 (GRCm39) |
S12G |
possibly damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fgb |
A |
T |
3: 82,953,449 (GRCm39) |
L107* |
probably null |
Het |
Ganab |
T |
C |
19: 8,879,996 (GRCm39) |
|
probably null |
Het |
Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,707,828 (GRCm39) |
D60G |
probably benign |
Het |
Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
Itih2 |
A |
G |
2: 10,128,224 (GRCm39) |
V159A |
possibly damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Lrch1 |
C |
T |
14: 75,054,525 (GRCm39) |
R323Q |
probably damaging |
Het |
Lrrc30 |
T |
C |
17: 67,938,860 (GRCm39) |
N240S |
probably benign |
Het |
Mrgpra9 |
T |
C |
7: 46,884,854 (GRCm39) |
Y271C |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,234,128 (GRCm39) |
H682R |
probably damaging |
Het |
Or14j4 |
A |
T |
17: 37,921,204 (GRCm39) |
V146E |
probably damaging |
Het |
Phlpp1 |
G |
A |
1: 106,214,833 (GRCm39) |
R585Q |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,612,939 (GRCm39) |
T3166A |
probably benign |
Het |
Prr11 |
T |
A |
11: 86,988,003 (GRCm39) |
Q300L |
possibly damaging |
Het |
Rad50 |
T |
A |
11: 53,575,062 (GRCm39) |
E620D |
probably benign |
Het |
Rpl3 |
A |
T |
15: 79,967,546 (GRCm39) |
|
probably null |
Het |
Sacs |
G |
T |
14: 61,428,697 (GRCm39) |
G252V |
probably damaging |
Het |
Serpina3i |
T |
A |
12: 104,232,776 (GRCm39) |
V227E |
probably damaging |
Het |
Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
Snx19 |
T |
C |
9: 30,339,039 (GRCm39) |
V59A |
possibly damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tcstv2c |
T |
A |
13: 120,616,349 (GRCm39) |
W63R |
probably damaging |
Het |
Tsc1 |
G |
A |
2: 28,561,898 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
C |
T |
7: 41,915,283 (GRCm39) |
Q77* |
probably null |
Het |
Wdr72 |
A |
G |
9: 74,120,643 (GRCm39) |
H954R |
probably benign |
Het |
Zbtb21 |
T |
C |
16: 97,757,972 (GRCm39) |
M20V |
probably benign |
Het |
Zkscan16 |
A |
T |
4: 58,956,483 (GRCm39) |
D255V |
probably damaging |
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 |
|
R6693:Pax9
|
UTSW |
12 |
56,756,516 (GRCm39) |
missense |
probably benign |
0.08 |
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'- CTTCGCATCGTGGAATTAGC -3'
(R):5'- AAATGTGGTTGTAGGGCAGC -3'
Sequencing Primer
(F):5'- TCGTGGAATTAGCCCAACTG -3'
(R):5'- TTGTAGGGCAGCGCGGG -3'
|
Posted On |
2018-06-06 |