Incidental Mutation 'R3878:Pax1'
| ID |
474346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax1
|
| Ensembl Gene |
ENSMUSG00000037034 |
| Gene Name |
paired box 1 |
| Synonyms |
hunchback, wavy tail, hbs, wt, Pax-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R3878 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
147203850-147216972 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 147204228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109968]
[ENSMUST00000126068]
|
| AlphaFold |
P09084 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109968
|
| SMART Domains |
Protein: ENSMUSP00000105594
Gene: ENSMUSG00000037034
| 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 |
unknown
Transcript: ENSMUST00000126068
AA Change: Y3F
|
| SMART Domains |
Protein: ENSMUSP00000119667
Gene: ENSMUSG00000037034
AA Change: Y3F
| 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: ENSMUST00000140987
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
C |
T |
2: 130,247,560 (GRCm39) |
T32M |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,531,324 (GRCm39) |
S915G |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,025,642 (GRCm39) |
|
probably null |
Het |
| Atosb |
T |
G |
4: 43,035,867 (GRCm39) |
H288P |
probably damaging |
Het |
| Cadm2 |
C |
T |
16: 66,612,329 (GRCm39) |
E78K |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,484,506 (GRCm39) |
P416L |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,542,845 (GRCm39) |
F661S |
probably damaging |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,653,048 (GRCm39) |
I403T |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,620,423 (GRCm39) |
R237G |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,148,150 (GRCm39) |
|
probably null |
Het |
| Frs2 |
A |
C |
10: 116,914,815 (GRCm39) |
S35A |
probably benign |
Het |
| Gpr155 |
C |
T |
2: 73,198,736 (GRCm39) |
W394* |
probably null |
Het |
| Ift140 |
G |
A |
17: 25,247,918 (GRCm39) |
V259M |
probably benign |
Het |
| Igkv9-124 |
A |
T |
6: 67,919,191 (GRCm39) |
S74T |
probably benign |
Het |
| Krt14 |
C |
T |
11: 100,097,915 (GRCm39) |
V123M |
possibly damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,398,063 (GRCm39) |
T457A |
possibly damaging |
Het |
| Nlrp4g |
A |
G |
9: 124,349,362 (GRCm38) |
|
noncoding transcript |
Het |
| Nsa2 |
C |
G |
13: 97,268,542 (GRCm39) |
G175A |
probably benign |
Het |
| Or8k40 |
T |
C |
2: 86,584,972 (GRCm39) |
T37A |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,376,262 (GRCm39) |
E1291G |
probably benign |
Het |
| Relb |
G |
A |
7: 19,351,769 (GRCm39) |
H115Y |
probably damaging |
Het |
| Rnase10 |
A |
G |
14: 51,246,889 (GRCm39) |
E52G |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc14a2 |
C |
T |
18: 78,202,289 (GRCm39) |
V614I |
probably benign |
Het |
| Slc20a2 |
T |
C |
8: 23,058,399 (GRCm39) |
L645P |
possibly damaging |
Het |
| Smoc2 |
A |
G |
17: 14,545,879 (GRCm39) |
D56G |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,247,782 (GRCm39) |
S789P |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 36,030,401 (GRCm39) |
|
probably null |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,152 (GRCm39) |
V169A |
probably damaging |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,322 (GRCm39) |
T86I |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,941,708 (GRCm39) |
D886G |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,259,321 (GRCm39) |
I1003M |
probably damaging |
Het |
| Trim37 |
T |
C |
11: 87,096,828 (GRCm39) |
V777A |
probably benign |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,596,364 (GRCm39) |
D11856G |
possibly damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,260 (GRCm39) |
D164V |
possibly damaging |
Het |
| Vmn1r34 |
G |
A |
6: 66,614,552 (GRCm39) |
T62I |
possibly damaging |
Het |
| Wapl |
T |
C |
14: 34,414,104 (GRCm39) |
L322P |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,105,960 (GRCm39) |
D17G |
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 |
|
R0030:Pax1
|
UTSW |
2 |
147,210,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation