Incidental Mutation 'R8000:Pald1'
ID |
616328 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pald1
|
Ensembl Gene |
ENSMUSG00000020092 |
Gene Name |
phosphatase domain containing, paladin 1 |
Synonyms |
paladin, X99384 |
MMRRC Submission |
046040-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R8000 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
61155435-61219309 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61183218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 339
(T339A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020289
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020289]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020289
AA Change: T339A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000020289 Gene: ENSMUSG00000020092 AA Change: T339A
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
PTPlike_phytase
|
164 |
333 |
4.33e-53 |
SMART |
low complexity region
|
428 |
441 |
N/A |
INTRINSIC |
PTPlike_phytase
|
548 |
682 |
5.37e-49 |
SMART |
low complexity region
|
757 |
768 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
G |
3: 59,924,796 (GRCm39) |
K121R |
possibly damaging |
Het |
Acaca |
A |
G |
11: 84,283,057 (GRCm39) |
K2208E |
possibly damaging |
Het |
Actn1 |
A |
G |
12: 80,245,782 (GRCm39) |
F134L |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,763 (GRCm39) |
V335D |
probably damaging |
Het |
Arhgef10 |
T |
G |
8: 14,980,054 (GRCm39) |
I98S |
probably damaging |
Het |
Celf4 |
T |
C |
18: 25,637,574 (GRCm39) |
N209S |
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,519,018 (GRCm39) |
P59L |
unknown |
Het |
Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,883,118 (GRCm39) |
L1642I |
probably benign |
Het |
Fads2b |
A |
G |
2: 85,349,070 (GRCm39) |
V14A |
probably benign |
Het |
Fap |
A |
G |
2: 62,333,142 (GRCm39) |
|
probably null |
Het |
Fbh1 |
A |
T |
2: 11,772,100 (GRCm39) |
Y194N |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,910,536 (GRCm39) |
T3322A |
probably damaging |
Het |
Frey1 |
A |
G |
2: 92,215,872 (GRCm39) |
K69E |
unknown |
Het |
Gabra4 |
A |
G |
5: 71,781,304 (GRCm39) |
F369S |
probably damaging |
Het |
Igkv9-124 |
T |
A |
6: 67,919,136 (GRCm39) |
D92V |
probably damaging |
Het |
Kcna6 |
C |
A |
6: 126,715,948 (GRCm39) |
E314* |
probably null |
Het |
Kyat1 |
A |
C |
2: 30,082,065 (GRCm39) |
S25A |
probably benign |
Het |
Lars2 |
G |
A |
9: 123,265,309 (GRCm39) |
G455D |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,613,418 (GRCm39) |
H478R |
probably benign |
Het |
Mier1 |
A |
T |
4: 102,988,240 (GRCm39) |
T83S |
probably damaging |
Het |
Mmp1a |
C |
A |
9: 7,476,215 (GRCm39) |
H437Q |
probably benign |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Neb |
G |
T |
2: 52,178,856 (GRCm39) |
A1300D |
probably damaging |
Het |
Nell2 |
T |
A |
15: 95,333,155 (GRCm39) |
L167F |
probably damaging |
Het |
Or10h1 |
G |
C |
17: 33,418,321 (GRCm39) |
A100P |
probably damaging |
Het |
Or12j2 |
T |
A |
7: 139,916,255 (GRCm39) |
M160K |
possibly damaging |
Het |
Or4d10c |
T |
C |
19: 12,065,358 (GRCm39) |
D266G |
probably damaging |
Het |
Pex13 |
A |
C |
11: 23,605,915 (GRCm39) |
L105W |
probably damaging |
Het |
Prxl2a |
A |
C |
14: 40,716,483 (GRCm39) |
*230G |
probably null |
Het |
Ptprd |
A |
C |
4: 75,984,479 (GRCm39) |
F556V |
possibly damaging |
Het |
Rgp1 |
T |
A |
4: 43,581,664 (GRCm39) |
C314S |
probably benign |
Het |
Rnaseh2a |
G |
A |
8: 85,692,678 (GRCm39) |
|
probably benign |
Het |
Rpl7 |
A |
T |
1: 16,172,949 (GRCm39) |
M154K |
probably benign |
Het |
Samd9l |
A |
T |
6: 3,373,034 (GRCm39) |
L1409Q |
probably damaging |
Het |
Slc35f3 |
A |
G |
8: 127,047,812 (GRCm39) |
T51A |
probably benign |
Het |
Slc7a10 |
A |
G |
7: 34,899,865 (GRCm39) |
Y76C |
|
Het |
Slk |
G |
T |
19: 47,597,344 (GRCm39) |
A51S |
|
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Stk38 |
A |
T |
17: 29,211,422 (GRCm39) |
V51E |
probably benign |
Het |
Tecta |
A |
T |
9: 42,278,480 (GRCm39) |
C1009* |
probably null |
Het |
Vmn1r228 |
A |
T |
17: 20,997,227 (GRCm39) |
M97K |
possibly damaging |
Het |
Xpo4 |
T |
C |
14: 57,827,403 (GRCm39) |
D931G |
probably damaging |
Het |
Zfp503 |
T |
C |
14: 22,036,227 (GRCm39) |
T230A |
possibly damaging |
Het |
|
Other mutations in Pald1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02183:Pald1
|
APN |
10 |
61,182,920 (GRCm39) |
splice site |
probably benign |
|
IGL03068:Pald1
|
APN |
10 |
61,156,963 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03106:Pald1
|
APN |
10 |
61,182,884 (GRCm39) |
missense |
probably benign |
0.41 |
R0331:Pald1
|
UTSW |
10 |
61,176,708 (GRCm39) |
critical splice donor site |
probably null |
|
R0497:Pald1
|
UTSW |
10 |
61,177,094 (GRCm39) |
missense |
probably damaging |
0.99 |
R1181:Pald1
|
UTSW |
10 |
61,183,366 (GRCm39) |
splice site |
probably benign |
|
R1437:Pald1
|
UTSW |
10 |
61,177,064 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1466:Pald1
|
UTSW |
10 |
61,184,304 (GRCm39) |
splice site |
probably benign |
|
R1827:Pald1
|
UTSW |
10 |
61,191,701 (GRCm39) |
small deletion |
probably benign |
|
R2129:Pald1
|
UTSW |
10 |
61,184,085 (GRCm39) |
critical splice donor site |
probably null |
|
R2184:Pald1
|
UTSW |
10 |
61,182,915 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2260:Pald1
|
UTSW |
10 |
61,188,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R3051:Pald1
|
UTSW |
10 |
61,182,542 (GRCm39) |
nonsense |
probably null |
|
R3690:Pald1
|
UTSW |
10 |
61,191,587 (GRCm39) |
splice site |
probably null |
|
R3713:Pald1
|
UTSW |
10 |
61,178,144 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3876:Pald1
|
UTSW |
10 |
61,183,266 (GRCm39) |
missense |
probably damaging |
0.97 |
R4261:Pald1
|
UTSW |
10 |
61,179,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Pald1
|
UTSW |
10 |
61,184,395 (GRCm39) |
missense |
probably benign |
0.00 |
R4603:Pald1
|
UTSW |
10 |
61,184,395 (GRCm39) |
missense |
probably benign |
0.00 |
R5069:Pald1
|
UTSW |
10 |
61,177,025 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5354:Pald1
|
UTSW |
10 |
61,184,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Pald1
|
UTSW |
10 |
61,179,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R5705:Pald1
|
UTSW |
10 |
61,159,076 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5780:Pald1
|
UTSW |
10 |
61,174,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R6239:Pald1
|
UTSW |
10 |
61,156,910 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6380:Pald1
|
UTSW |
10 |
61,186,714 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6812:Pald1
|
UTSW |
10 |
61,178,701 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6891:Pald1
|
UTSW |
10 |
61,184,311 (GRCm39) |
critical splice donor site |
probably null |
|
R6949:Pald1
|
UTSW |
10 |
61,156,996 (GRCm39) |
missense |
probably benign |
0.23 |
R7038:Pald1
|
UTSW |
10 |
61,175,078 (GRCm39) |
missense |
probably benign |
|
R7051:Pald1
|
UTSW |
10 |
61,159,125 (GRCm39) |
missense |
probably benign |
0.26 |
R7188:Pald1
|
UTSW |
10 |
61,182,845 (GRCm39) |
missense |
probably damaging |
0.99 |
R7339:Pald1
|
UTSW |
10 |
61,159,110 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7831:Pald1
|
UTSW |
10 |
61,191,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R8710:Pald1
|
UTSW |
10 |
61,183,232 (GRCm39) |
missense |
probably benign |
0.03 |
R8903:Pald1
|
UTSW |
10 |
61,182,815 (GRCm39) |
critical splice donor site |
probably null |
|
R9255:Pald1
|
UTSW |
10 |
61,176,989 (GRCm39) |
critical splice donor site |
probably null |
|
R9414:Pald1
|
UTSW |
10 |
61,178,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTACTGGGGAAATGGAGACC -3'
(R):5'- GCCTCAACTGCAGGGTTTTC -3'
Sequencing Primer
(F):5'- AGAAGGGTCCAGTGGCCTC -3'
(R):5'- CCCATACATTGTTGTCTGATGG -3'
|
Posted On |
2020-01-23 |