Incidental Mutation 'R6323:Pax1'
| ID |
510188 |
| 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 |
044477-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.730)
|
| Stock # |
R6323 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
147203850-147216972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 147210321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 352
(V352E)
|
| 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: V352E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105594
Gene: ENSMUSG00000037034
AA Change: V352E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| 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 |
|---|
| 4933409G03Rik |
A |
G |
2: 68,436,568 (GRCm39) |
T171A |
unknown |
Het |
| Akr1c6 |
A |
G |
13: 4,497,017 (GRCm39) |
K153R |
possibly damaging |
Het |
| Ano1 |
T |
A |
7: 144,165,423 (GRCm39) |
I601F |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,676,404 (GRCm39) |
Y8C |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,962,286 (GRCm39) |
I1816V |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,263,577 (GRCm39) |
T1294S |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,026,161 (GRCm39) |
S952P |
possibly damaging |
Het |
| Cdc20 |
T |
C |
4: 118,292,761 (GRCm39) |
N329S |
probably damaging |
Het |
| Ceacam1 |
A |
C |
7: 25,174,076 (GRCm39) |
L193R |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,305,337 (GRCm39) |
S143P |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,548,395 (GRCm39) |
D1342G |
possibly damaging |
Het |
| Chd5 |
C |
A |
4: 152,451,791 (GRCm39) |
T701K |
probably damaging |
Het |
| Cpt1b |
C |
A |
15: 89,303,266 (GRCm39) |
M596I |
probably benign |
Het |
| Ctrb1 |
A |
G |
8: 112,416,223 (GRCm39) |
V21A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,203,889 (GRCm39) |
V579I |
probably benign |
Het |
| Dlc1 |
T |
C |
8: 37,405,537 (GRCm39) |
E84G |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,325,390 (GRCm39) |
D254G |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
A |
G |
3: 107,925,063 (GRCm39) |
V10A |
probably benign |
Het |
| Krt13 |
C |
A |
11: 100,011,976 (GRCm39) |
A116S |
probably damaging |
Het |
| Lars2 |
A |
T |
9: 123,270,659 (GRCm39) |
K584* |
probably null |
Het |
| Lrrc43 |
G |
T |
5: 123,641,949 (GRCm39) |
G600W |
probably damaging |
Het |
| Madd |
G |
T |
2: 90,991,783 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
A |
G |
12: 73,214,878 (GRCm39) |
D65G |
probably damaging |
Het |
| Nsmf |
A |
G |
2: 24,945,063 (GRCm39) |
N42S |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,046 (GRCm39) |
L23P |
possibly damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,645 (GRCm39) |
L48P |
probably damaging |
Het |
| Palld |
A |
T |
8: 62,173,727 (GRCm39) |
W311R |
probably damaging |
Het |
| Rnf2 |
T |
C |
1: 151,348,967 (GRCm39) |
K51R |
probably damaging |
Het |
| Rpl7l1 |
C |
A |
17: 47,093,564 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
G |
A |
10: 78,648,721 (GRCm39) |
G481S |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,118,916 (GRCm39) |
T4698I |
probably benign |
Het |
| Trav6-1 |
T |
C |
14: 52,876,248 (GRCm39) |
V56A |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,650,522 (GRCm39) |
C103S |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,267,303 (GRCm39) |
H305L |
probably damaging |
Het |
| Zfp593 |
A |
G |
4: 133,972,224 (GRCm39) |
V94A |
probably benign |
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 |
|
R3878:Pax1
|
UTSW |
2 |
147,204,228 (GRCm39) |
unclassified |
probably benign |
|
|
R4788:Pax1
|
UTSW |
2 |
147,208,124 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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'- AGAGCAGTCTGGCTTTCGAG -3'
(R):5'- TTTGAAGGTCATTGCCGCTG -3'
Sequencing Primer
(F):5'- CGAGTGAAGATTGACATGCCTTTC -3'
(R):5'- AGATAGGTAGCCGGCTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation