Incidental Mutation 'R0030:Pax1'
| ID |
64512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax1
|
| Ensembl Gene |
ENSMUSG00000037034 |
| Gene Name |
paired box 1 |
| Synonyms |
hunchback, wavy tail, hbs, wt, Pax-1 |
| MMRRC Submission |
038324-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.730)
|
| Stock # |
R0030 (G1)
|
| Quality Score |
81 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
147203850-147216972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 147210502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 412
(F412L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109968]
[ENSMUST00000126068]
|
| AlphaFold |
P09084 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109968
AA Change: F412L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105594
Gene: ENSMUSG00000037034
AA Change: F412L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
55 |
N/A |
INTRINSIC |
|
PAX
|
89 |
213 |
9.13e-91 |
SMART |
|
low complexity region
|
380 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126068
|
| SMART Domains |
Protein: ENSMUSP00000119667
Gene: ENSMUSG00000037034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
143 |
N/A |
INTRINSIC |
|
PAX
|
177 |
301 |
9.13e-91 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156584
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| 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. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for several mutations exhibit variably severe morphological alterations of vertebral column, sternum, scapula, skull, and thymus, with reduced adult survival and fertility. Some heterozygotes show milder skeletal abnormalities. [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 |
|---|
| Agap1 |
T |
A |
1: 89,816,466 (GRCm39) |
Y755* |
probably null |
Het |
| Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
| Ank1 |
C |
A |
8: 23,583,909 (GRCm39) |
D337E |
probably damaging |
Het |
| Ankrd65 |
A |
C |
4: 155,875,942 (GRCm39) |
R72S |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,022,727 (GRCm39) |
|
probably null |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,947 (GRCm39) |
S462P |
probably damaging |
Het |
| Dxo |
A |
G |
17: 35,056,914 (GRCm39) |
R132G |
probably damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,126,894 (GRCm39) |
S646P |
probably benign |
Het |
| Foxi2 |
A |
G |
7: 135,013,345 (GRCm39) |
T192A |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,296,034 (GRCm39) |
C480* |
probably null |
Het |
| Gak |
C |
T |
5: 108,761,413 (GRCm39) |
W206* |
probably null |
Het |
| Ggt7 |
G |
T |
2: 155,348,408 (GRCm39) |
D5E |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,400,651 (GRCm39) |
G339* |
probably null |
Het |
| Ikzf3 |
T |
C |
11: 98,358,438 (GRCm39) |
T300A |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,156,076 (GRCm39) |
L1198R |
probably damaging |
Het |
| Odf4 |
T |
A |
11: 68,817,767 (GRCm39) |
E9D |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,867 (GRCm39) |
M261K |
possibly damaging |
Het |
| Polg |
A |
T |
7: 79,101,876 (GRCm39) |
I1006N |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,387,605 (GRCm39) |
V51A |
possibly damaging |
Het |
| Scn10a |
G |
C |
9: 119,499,056 (GRCm39) |
T304R |
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,964,887 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
G |
T |
4: 139,154,104 (GRCm39) |
V2104L |
probably damaging |
Het |
|
| Other mutations in Pax1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
wavy
|
UTSW |
2 |
147,207,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Pax1
|
UTSW |
2 |
147,215,654 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0304:Pax1
|
UTSW |
2 |
147,208,067 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1544:Pax1
|
UTSW |
2 |
147,210,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1583:Pax1
|
UTSW |
2 |
147,208,175 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1937:Pax1
|
UTSW |
2 |
147,209,809 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2143:Pax1
|
UTSW |
2 |
147,207,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Pax1
|
UTSW |
2 |
147,207,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2915:Pax1
|
UTSW |
2 |
147,210,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3878:Pax1
|
UTSW |
2 |
147,204,228 (GRCm39) |
unclassified |
probably benign |
|
|
R4788:Pax1
|
UTSW |
2 |
147,208,124 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6323:Pax1
|
UTSW |
2 |
147,210,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6842:Pax1
|
UTSW |
2 |
147,215,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7052:Pax1
|
UTSW |
2 |
147,207,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Pax1
|
UTSW |
2 |
147,208,190 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7703:Pax1
|
UTSW |
2 |
147,208,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8487:Pax1
|
UTSW |
2 |
147,206,968 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8958:Pax1
|
UTSW |
2 |
147,210,517 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9092:Pax1
|
UTSW |
2 |
147,204,287 (GRCm39) |
missense |
unknown |
|
|
Z1177:Pax1
|
UTSW |
2 |
147,210,431 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGACAACAGAGTTCGTGCC -3'
(R):5'- gATGAATCTACCCCAATCGCCTCG -3'
Sequencing Primer
(F):5'- GCCTGTGCTGGAGAAGC -3'
(R):5'- CGAGTCTCCCTCCCCTAC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation