Incidental Mutation 'R4170:Ptf1a'
ID |
320726 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptf1a
|
Ensembl Gene |
ENSMUSG00000026735 |
Gene Name |
pancreas specific transcription factor, 1a |
Synonyms |
bHLHa29, PTF1-p48 |
MMRRC Submission |
040863-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4170 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
19450474-19452312 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 19451819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 273
(L273F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028068]
|
AlphaFold |
Q9QX98 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028068
AA Change: L273F
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028068 Gene: ENSMUSG00000026735 AA Change: L273F
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
86 |
N/A |
INTRINSIC |
low complexity region
|
131 |
151 |
N/A |
INTRINSIC |
HLH
|
166 |
218 |
6.65e-20 |
SMART |
low complexity region
|
221 |
240 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000070378
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122978
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008] PHENOTYPE: Nullizygous mice show neonatal death, exocrine pancreas and cerebellum agenesis, hypoglycemia and relocation of endocrine cells to the spleen. Knock-in mutations can lead to neonatal death, absent pancreas, altered GABAergic neuronal fate and retinal dysplasia due to misspecified retinal precursors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700047A11Rik |
T |
A |
8: 26,585,815 (GRCm39) |
T63S |
probably benign |
Het |
Acap3 |
T |
A |
4: 155,984,458 (GRCm39) |
S189T |
possibly damaging |
Het |
Acsbg2 |
G |
A |
17: 57,160,846 (GRCm39) |
T266I |
probably benign |
Het |
Cacna1s |
A |
G |
1: 136,035,933 (GRCm39) |
D1144G |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,223,143 (GRCm39) |
D365G |
probably damaging |
Het |
Dock7 |
T |
A |
4: 98,854,638 (GRCm39) |
D1542V |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,717,831 (GRCm39) |
V337D |
probably damaging |
Het |
Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
Ercc6 |
T |
C |
14: 32,288,754 (GRCm39) |
L867P |
probably damaging |
Het |
Gdf6 |
A |
G |
4: 9,859,650 (GRCm39) |
D244G |
probably benign |
Het |
Get1 |
G |
A |
16: 95,954,176 (GRCm39) |
A92T |
probably benign |
Het |
Gzmn |
T |
C |
14: 56,404,261 (GRCm39) |
D192G |
possibly damaging |
Het |
Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
Lysmd3 |
C |
T |
13: 81,817,529 (GRCm39) |
Q169* |
probably null |
Het |
Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
Mmp23 |
C |
T |
4: 155,735,767 (GRCm39) |
R268Q |
probably damaging |
Het |
Or1j17 |
C |
A |
2: 36,578,734 (GRCm39) |
T240N |
probably damaging |
Het |
Or5p58 |
T |
A |
7: 107,694,280 (GRCm39) |
I166L |
probably benign |
Het |
Prmt3 |
G |
T |
7: 49,476,524 (GRCm39) |
A378S |
probably benign |
Het |
Ptpru |
A |
T |
4: 131,503,659 (GRCm39) |
Y1124N |
probably damaging |
Het |
Rtkn |
T |
G |
6: 83,119,376 (GRCm39) |
M1R |
probably null |
Het |
Rttn |
T |
A |
18: 88,993,847 (GRCm39) |
F175I |
probably damaging |
Het |
Slc5a7 |
T |
C |
17: 54,583,886 (GRCm39) |
D468G |
probably benign |
Het |
Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
Smarcd1 |
T |
C |
15: 99,605,812 (GRCm39) |
L320P |
probably damaging |
Het |
Sox2 |
A |
T |
3: 34,704,703 (GRCm39) |
M47L |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,920,037 (GRCm39) |
M2258T |
possibly damaging |
Het |
Tnrc6b |
T |
A |
15: 80,800,988 (GRCm39) |
D1431E |
probably benign |
Het |
Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
Tut4 |
A |
G |
4: 108,405,256 (GRCm39) |
Y1293C |
probably damaging |
Het |
Zbtb46 |
T |
C |
2: 181,066,148 (GRCm39) |
M1V |
probably null |
Het |
Zfp7 |
T |
C |
15: 76,775,818 (GRCm39) |
V620A |
probably benign |
Het |
Zfp804a |
T |
A |
2: 82,083,832 (GRCm39) |
F95I |
probably damaging |
Het |
|
Other mutations in Ptf1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01295:Ptf1a
|
APN |
2 |
19,451,429 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01934:Ptf1a
|
APN |
2 |
19,451,431 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL03153:Ptf1a
|
APN |
2 |
19,451,456 (GRCm39) |
splice site |
probably benign |
|
R3236:Ptf1a
|
UTSW |
2 |
19,450,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R4451:Ptf1a
|
UTSW |
2 |
19,451,092 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4452:Ptf1a
|
UTSW |
2 |
19,451,092 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4788:Ptf1a
|
UTSW |
2 |
19,450,762 (GRCm39) |
missense |
probably benign |
0.05 |
R5533:Ptf1a
|
UTSW |
2 |
19,451,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R6513:Ptf1a
|
UTSW |
2 |
19,451,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R7082:Ptf1a
|
UTSW |
2 |
19,450,676 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7342:Ptf1a
|
UTSW |
2 |
19,451,977 (GRCm39) |
makesense |
probably null |
|
R8215:Ptf1a
|
UTSW |
2 |
19,450,760 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8394:Ptf1a
|
UTSW |
2 |
19,450,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R9037:Ptf1a
|
UTSW |
2 |
19,451,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9178:Ptf1a
|
UTSW |
2 |
19,450,536 (GRCm39) |
start gained |
probably benign |
|
R9766:Ptf1a
|
UTSW |
2 |
19,451,062 (GRCm39) |
missense |
probably benign |
0.18 |
R9784:Ptf1a
|
UTSW |
2 |
19,451,381 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGATATTTGACCAAGGACGAGC -3'
(R):5'- AACCCGATGTGAGCTGTCTC -3'
Sequencing Primer
(F):5'- AGACACACACCTCCTTGGGTTC -3'
(R):5'- TGAGCTGTCTCAGGACACAAACTC -3'
|
Posted On |
2015-06-12 |