Incidental Mutation 'R6842:Pax1'
ID |
533888 |
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 |
044948-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.730)
|
Stock # |
R6842 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
147203850-147216972 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 147215640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 419
(D419G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105594
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109968]
|
AlphaFold |
P09084 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109968
AA Change: D419G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000105594 Gene: ENSMUSG00000037034 AA Change: D419G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
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 |
Acsbg3 |
A |
G |
17: 57,184,432 (GRCm39) |
N69S |
probably benign |
Het |
Adgrl3 |
C |
T |
5: 81,888,927 (GRCm39) |
A1042V |
probably damaging |
Het |
Armh3 |
A |
G |
19: 45,807,416 (GRCm39) |
V660A |
probably benign |
Het |
C1s2 |
T |
A |
6: 124,604,461 (GRCm39) |
H395L |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,358,863 (GRCm39) |
I307T |
probably damaging |
Het |
Cap2 |
T |
C |
13: 46,800,101 (GRCm39) |
S381P |
probably damaging |
Het |
Cbfa2t2 |
A |
G |
2: 154,365,965 (GRCm39) |
T392A |
probably benign |
Het |
Ccdc127 |
T |
C |
13: 74,505,088 (GRCm39) |
I212T |
probably damaging |
Het |
Cela3a |
A |
G |
4: 137,132,979 (GRCm39) |
V91A |
probably benign |
Het |
Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,402,952 (GRCm39) |
F2347L |
possibly damaging |
Het |
Ddx19a |
A |
G |
8: 111,705,257 (GRCm39) |
V288A |
possibly damaging |
Het |
Fbxl5 |
T |
C |
5: 43,930,928 (GRCm39) |
E53G |
probably damaging |
Het |
Fbxw26 |
A |
T |
9: 109,553,988 (GRCm39) |
I217N |
probably damaging |
Het |
Fgfr1op2 |
T |
A |
6: 146,491,536 (GRCm39) |
|
probably null |
Het |
Ighv1-37 |
A |
T |
12: 114,860,275 (GRCm39) |
I6N |
probably damaging |
Het |
Klhdc10 |
T |
C |
6: 30,439,781 (GRCm39) |
L128P |
probably damaging |
Het |
Lypla1 |
C |
T |
1: 4,902,563 (GRCm39) |
S24F |
probably benign |
Het |
Mme |
T |
A |
3: 63,269,465 (GRCm39) |
D591E |
probably damaging |
Het |
Mmp1b |
T |
A |
9: 7,384,888 (GRCm39) |
I254F |
probably damaging |
Het |
Msr1 |
T |
C |
8: 40,085,866 (GRCm39) |
M5V |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,175,481 (GRCm39) |
D312G |
probably damaging |
Het |
Nav2 |
T |
C |
7: 49,107,917 (GRCm39) |
Y709H |
possibly damaging |
Het |
Oas1g |
T |
C |
5: 121,025,621 (GRCm39) |
E2G |
probably benign |
Het |
Ocm |
T |
A |
5: 143,962,509 (GRCm39) |
I6F |
unknown |
Het |
Odad2 |
C |
T |
18: 7,268,401 (GRCm39) |
D373N |
probably benign |
Het |
Or13f5 |
T |
C |
4: 52,825,576 (GRCm39) |
Y60H |
probably damaging |
Het |
Or2ag12 |
T |
C |
7: 106,277,093 (GRCm39) |
Y200C |
probably damaging |
Het |
Or8a1b |
T |
C |
9: 37,622,885 (GRCm39) |
N230S |
probably benign |
Het |
Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
Plbd1 |
T |
A |
6: 136,612,612 (GRCm39) |
I194F |
probably benign |
Het |
Prdx6 |
A |
T |
1: 161,074,940 (GRCm39) |
C47S |
probably damaging |
Het |
Sec24d |
T |
C |
3: 123,136,868 (GRCm39) |
S534P |
probably benign |
Het |
Sgk3 |
T |
C |
1: 9,968,979 (GRCm39) |
V452A |
probably benign |
Het |
Sipa1l1 |
T |
C |
12: 82,467,320 (GRCm39) |
V1177A |
probably benign |
Het |
Tgfbr1 |
T |
C |
4: 47,383,757 (GRCm39) |
C32R |
probably damaging |
Het |
Trim66 |
T |
C |
7: 109,059,983 (GRCm39) |
N801S |
probably benign |
Het |
Utp6 |
C |
T |
11: 79,831,775 (GRCm39) |
S504N |
probably benign |
Het |
Wdsub1 |
A |
C |
2: 59,708,532 (GRCm39) |
S114A |
probably benign |
Het |
Wfikkn2 |
T |
C |
11: 94,128,866 (GRCm39) |
E425G |
probably damaging |
Het |
Zfp956 |
C |
T |
6: 47,940,763 (GRCm39) |
T374I |
possibly 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 |
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 |
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'- GCTTCTGTGGTCATCATCAGG -3'
(R):5'- TTGAGACCAAAGCAATGCCG -3'
Sequencing Primer
(F):5'- TCATCAGGAATGAATGACTGGAG -3'
(R):5'- AACTCCAGGATGCTGCTAGC -3'
|
Posted On |
2018-09-12 |