Incidental Mutation 'R5200:Pax4'
| ID |
400674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax4
|
| Ensembl Gene |
ENSMUSG00000029706 |
| Gene Name |
paired box 4 |
| Synonyms |
Pax-4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
28442333-28449339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28445138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 179
(P179L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031718]
[ENSMUST00000164519]
[ENSMUST00000171089]
[ENSMUST00000174194]
|
| AlphaFold |
P32115 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031718
AA Change: P179L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: P179L
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
170 |
232 |
8.92e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164519
AA Change: P179L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: P179L
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
170 |
232 |
8.92e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171089
AA Change: P179L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: P179L
| 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 benign
Transcript: ENSMUST00000174194
|
| SMART Domains |
Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
C |
5: 4,010,734 (GRCm39) |
V497A |
probably benign |
Het |
| Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,798,014 (GRCm39) |
R997G |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,702,604 (GRCm39) |
S848P |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,891,156 (GRCm39) |
I810V |
probably benign |
Het |
| C1ql4 |
T |
G |
15: 98,982,718 (GRCm39) |
I212L |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,475,387 (GRCm39) |
Y443C |
probably benign |
Het |
| Cfap45 |
C |
T |
1: 172,372,696 (GRCm39) |
Q464* |
probably null |
Het |
| Clcn3 |
T |
C |
8: 61,376,039 (GRCm39) |
K618R |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnaaf4 |
T |
C |
9: 72,879,713 (GRCm39) |
S418P |
probably damaging |
Het |
| H2-M10.2 |
T |
G |
17: 36,595,641 (GRCm39) |
R216S |
probably benign |
Het |
| Hook1 |
A |
G |
4: 95,881,367 (GRCm39) |
D113G |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,897,340 (GRCm39) |
E914G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,248,059 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
T |
6: 146,045,605 (GRCm39) |
|
probably null |
Het |
| Myo6 |
C |
T |
9: 80,183,656 (GRCm39) |
Q684* |
probably null |
Het |
| Nrde2 |
T |
A |
12: 100,096,756 (GRCm39) |
I1015F |
possibly damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,446 (GRCm39) |
V190E |
probably damaging |
Het |
| Or2d4 |
G |
A |
7: 106,544,187 (GRCm39) |
T7I |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,074,076 (GRCm39) |
N210I |
probably damaging |
Het |
| Pcx |
G |
A |
19: 4,668,532 (GRCm39) |
D656N |
probably damaging |
Het |
| Pms1 |
T |
A |
1: 53,245,916 (GRCm39) |
H541L |
probably benign |
Het |
| Pten |
C |
T |
19: 32,777,291 (GRCm39) |
P95L |
probably damaging |
Het |
| Rsrc2 |
G |
A |
5: 123,877,562 (GRCm39) |
R140* |
probably null |
Het |
| Shc3 |
T |
C |
13: 51,670,601 (GRCm39) |
M49V |
probably damaging |
Het |
| Snap91 |
C |
G |
9: 86,697,497 (GRCm39) |
K288N |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,970,787 (GRCm39) |
Q1324* |
probably null |
Het |
| Tasor |
A |
G |
14: 27,151,183 (GRCm39) |
E53G |
probably benign |
Het |
| Tfr2 |
A |
G |
5: 137,569,242 (GRCm39) |
|
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,803 (GRCm39) |
I99K |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,878 (GRCm39) |
V119E |
probably damaging |
Het |
| Tmtc4 |
T |
G |
14: 123,182,969 (GRCm39) |
D243A |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,889,515 (GRCm39) |
S1755T |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,551,589 (GRCm39) |
S590P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,590,287 (GRCm39) |
T12814S |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,923 (GRCm39) |
S708T |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,717 (GRCm39) |
F807Y |
probably damaging |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,615 (GRCm39) |
P170L |
probably damaging |
Het |
| Zfp612 |
C |
T |
8: 110,816,532 (GRCm39) |
Q580* |
probably null |
Het |
|
| Other mutations in Pax4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03150:Pax4
|
APN |
6 |
28,444,338 (GRCm39) |
missense |
probably null |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAGAGGCTCTCACAGTG -3'
(R):5'- ACATGAGAGACCCTGTGTAACC -3'
Sequencing Primer
(F):5'- AGGAATGGTCTCCTTGTCAGTCC -3'
(R):5'- ACCCTGTGTAACCAGAAAGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation