Incidental Mutation 'IGL03150:Pax4'
| ID |
411063 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pax4
|
| Ensembl Gene |
ENSMUSG00000029706 |
| Gene Name |
paired box 4 |
| Synonyms |
Pax-4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
28442333-28449339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 28444338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 239
(G239W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031718]
[ENSMUST00000164519]
[ENSMUST00000171089]
[ENSMUST00000174194]
|
| AlphaFold |
P32115 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031718
AA Change: G239C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: G239C
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
170 |
232 |
8.92e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164519
AA Change: G239W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: G239W
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
170 |
232 |
8.92e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171089
AA Change: G239W
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: G239W
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
170 |
232 |
8.92e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174036
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174194
AA Change: G197C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: G197C
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
139 |
190 |
2.22e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174423
|
| Coding Region Coverage |
|
| 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 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. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation lack mature insulin- and somatostatin-producing cells (beta and delta, respectively) in the pancreas, but contain glucagon-producing alpha cells in considerably higher numbers relative to wild-type mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
C |
T |
8: 60,996,596 (GRCm39) |
S399L |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,002,215 (GRCm39) |
S1387P |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,460,201 (GRCm39) |
D886G |
probably damaging |
Het |
| Cracd |
G |
A |
5: 77,015,097 (GRCm39) |
E57K |
probably damaging |
Het |
| Eif2ak3 |
A |
T |
6: 70,869,420 (GRCm39) |
K702N |
possibly damaging |
Het |
| Ercc6 |
G |
T |
14: 32,280,531 (GRCm39) |
M709I |
probably damaging |
Het |
| Foxa1 |
T |
A |
12: 57,589,082 (GRCm39) |
E379D |
probably benign |
Het |
| Fscb |
C |
T |
12: 64,519,204 (GRCm39) |
G754D |
unknown |
Het |
| Gzmb |
C |
T |
14: 56,497,839 (GRCm39) |
V134I |
probably benign |
Het |
| Iho1 |
G |
T |
9: 108,282,155 (GRCm39) |
T511K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,419,246 (GRCm39) |
T4010A |
possibly damaging |
Het |
| Necab3 |
A |
G |
2: 154,396,662 (GRCm39) |
Y55H |
probably damaging |
Het |
| Nova1 |
T |
C |
12: 46,747,455 (GRCm39) |
N274S |
possibly damaging |
Het |
| Nup54 |
C |
A |
5: 92,576,023 (GRCm39) |
G156V |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,942,549 (GRCm39) |
C4317S |
probably damaging |
Het |
| Papln |
T |
A |
12: 83,829,758 (GRCm39) |
W960R |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,290,955 (GRCm39) |
S502P |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,399,084 (GRCm39) |
R150G |
possibly damaging |
Het |
| Srgap2 |
A |
T |
1: 131,238,338 (GRCm39) |
V658E |
probably damaging |
Het |
| Taar7e |
A |
T |
10: 23,913,528 (GRCm39) |
D6V |
probably benign |
Het |
| Trim25 |
T |
C |
11: 88,890,831 (GRCm39) |
C173R |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,329,643 (GRCm39) |
S529P |
probably benign |
Het |
| Ubn2 |
C |
T |
6: 38,440,649 (GRCm39) |
P174S |
probably benign |
Het |
| Ubox5 |
A |
G |
2: 130,442,060 (GRCm39) |
V209A |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,384 (GRCm39) |
F222L |
probably damaging |
Het |
| Xpot |
C |
T |
10: 121,445,091 (GRCm39) |
A374T |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,816,535 (GRCm39) |
C472R |
probably damaging |
Het |
| Zfp777 |
A |
G |
6: 48,021,059 (GRCm39) |
W232R |
probably damaging |
Het |
|
| Other mutations in Pax4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0034:Pax4
|
UTSW |
6 |
28,442,448 (GRCm39) |
missense |
probably benign |
|
|
R1523:Pax4
|
UTSW |
6 |
28,444,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Pax4
|
UTSW |
6 |
28,443,446 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2014:Pax4
|
UTSW |
6 |
28,446,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4037:Pax4
|
UTSW |
6 |
28,443,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5117:Pax4
|
UTSW |
6 |
28,446,278 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5163:Pax4
|
UTSW |
6 |
28,446,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Pax4
|
UTSW |
6 |
28,444,368 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5200:Pax4
|
UTSW |
6 |
28,445,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5713:Pax4
|
UTSW |
6 |
28,446,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Pax4
|
UTSW |
6 |
28,447,126 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6185:Pax4
|
UTSW |
6 |
28,446,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6744:Pax4
|
UTSW |
6 |
28,442,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6923:Pax4
|
UTSW |
6 |
28,447,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7054:Pax4
|
UTSW |
6 |
28,446,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Pax4
|
UTSW |
6 |
28,446,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Pax4
|
UTSW |
6 |
28,442,513 (GRCm39) |
missense |
probably benign |
|
|
R9110:Pax4
|
UTSW |
6 |
28,445,201 (GRCm39) |
missense |
probably benign |
|
|
R9438:Pax4
|
UTSW |
6 |
28,446,185 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Pax4
|
UTSW |
6 |
28,442,462 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1177:Pax4
|
UTSW |
6 |
28,442,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation