Incidental Mutation 'R4037:Pax4'
| ID |
313752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax4
|
| Ensembl Gene |
ENSMUSG00000029706 |
| Gene Name |
paired box 4 |
| Synonyms |
Pax-4 |
| MMRRC Submission |
040964-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4037 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
28442333-28449339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28443882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 241
(I241T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031718]
[ENSMUST00000164519]
[ENSMUST00000171089]
[ENSMUST00000174194]
|
| AlphaFold |
P32115 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031718
AA Change: I254T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: I254T
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
170 |
232 |
8.92e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164519
AA Change: I241T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: I241T
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
5 |
129 |
8.08e-83 |
SMART |
|
HOX
|
170 |
232 |
8.92e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171089
AA Change: I241T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: I241T
| 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
AA Change: I212T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: I212T
| 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
|
| Meta Mutation Damage Score |
0.0644 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
93% (37/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,597,319 (GRCm39) |
F881L |
probably benign |
Het |
| Capn6 |
A |
G |
X: 142,590,859 (GRCm39) |
W291R |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,033 (GRCm39) |
I776V |
probably damaging |
Het |
| Cpne5 |
C |
T |
17: 29,378,087 (GRCm39) |
R564H |
unknown |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 72,483,468 (GRCm39) |
L17P |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Efcc1 |
C |
T |
6: 87,708,490 (GRCm39) |
Q206* |
probably null |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,776,987 (GRCm39) |
T226A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,648,253 (GRCm39) |
T678S |
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
| Man1c1 |
C |
T |
4: 134,320,650 (GRCm39) |
D217N |
probably damaging |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,249,290 (GRCm39) |
S1338L |
probably damaging |
Het |
| Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
| Or4a73 |
C |
T |
2: 89,421,379 (GRCm39) |
V27I |
probably benign |
Het |
| Or4c113 |
A |
G |
2: 88,885,032 (GRCm39) |
V246A |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
A |
6: 88,450,117 (GRCm39) |
M96K |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,685,881 (GRCm39) |
I1880V |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,835,935 (GRCm39) |
N885D |
probably benign |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc36a2 |
T |
C |
11: 55,055,101 (GRCm39) |
D318G |
probably benign |
Het |
| Slc38a4 |
G |
A |
15: 96,894,923 (GRCm39) |
A531V |
probably benign |
Het |
| Stat3 |
C |
T |
11: 100,783,951 (GRCm39) |
G658R |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
G |
T |
16: 32,489,614 (GRCm39) |
A298S |
probably damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCCTACACCCCAGAATAGG -3'
(R):5'- TTCCTAAGGCCCCGTTTTGG -3'
Sequencing Primer
(F):5'- TAGGATGCCATTCACATAGGAGTCC -3'
(R):5'- GACAGTCTAAGTTTGTGACATCTCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation