Incidental Mutation 'R5780:Pald1'
ID |
446944 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pald1
|
Ensembl Gene |
ENSMUSG00000020092 |
Gene Name |
phosphatase domain containing, paladin 1 |
Synonyms |
paladin, X99384 |
MMRRC Submission |
043205-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R5780 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
61155435-61219309 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61174997 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 751
(I751N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020289
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020289]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020289
AA Change: I751N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020289 Gene: ENSMUSG00000020092 AA Change: I751N
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219240
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
C |
T |
1: 85,646,039 (GRCm39) |
A189T |
probably benign |
Het |
Acsm4 |
A |
G |
7: 119,293,068 (GRCm39) |
E66G |
possibly damaging |
Het |
Afm |
A |
G |
5: 90,699,290 (GRCm39) |
E578G |
possibly damaging |
Het |
Alox5 |
A |
T |
6: 116,397,310 (GRCm39) |
D291E |
probably benign |
Het |
Apoa4 |
A |
G |
9: 46,153,890 (GRCm39) |
M164V |
possibly damaging |
Het |
Atp6v1a |
A |
T |
16: 43,935,006 (GRCm39) |
M61K |
probably benign |
Het |
Avp |
A |
G |
2: 130,422,629 (GRCm39) |
S159P |
probably benign |
Het |
Bicra |
A |
T |
7: 15,713,679 (GRCm39) |
L841Q |
possibly damaging |
Het |
Cdk5rap1 |
CTT |
CT |
2: 154,187,788 (GRCm39) |
|
probably null |
Het |
Clasp2 |
T |
G |
9: 113,679,220 (GRCm39) |
L246R |
probably damaging |
Het |
Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
Dmkn |
A |
G |
7: 30,477,040 (GRCm39) |
D227G |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,522,478 (GRCm39) |
A2920V |
probably benign |
Het |
Epb41l1 |
C |
T |
2: 156,338,445 (GRCm39) |
R163W |
probably damaging |
Het |
Etfbkmt |
T |
A |
6: 149,048,657 (GRCm39) |
Y99N |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,035,104 (GRCm39) |
Y2919H |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,784,643 (GRCm39) |
D234E |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,868,652 (GRCm39) |
D1443G |
probably benign |
Het |
Fscn2 |
A |
C |
11: 120,257,494 (GRCm39) |
E285A |
probably benign |
Het |
Hmga2 |
T |
A |
10: 120,298,583 (GRCm39) |
R79* |
probably null |
Het |
Hrh3 |
A |
T |
2: 179,742,608 (GRCm39) |
V308E |
probably damaging |
Het |
Hsd11b2 |
G |
A |
8: 106,248,787 (GRCm39) |
G93D |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,312,712 (GRCm39) |
F4151S |
probably damaging |
Het |
Ica1l |
C |
A |
1: 60,067,374 (GRCm39) |
E5D |
probably benign |
Het |
Kcnma1 |
C |
A |
14: 23,436,419 (GRCm39) |
E640* |
probably null |
Het |
Mdn1 |
C |
T |
4: 32,722,950 (GRCm39) |
H2422Y |
probably benign |
Het |
Mgarp |
T |
C |
3: 51,299,269 (GRCm39) |
T47A |
probably damaging |
Het |
Mmp13 |
T |
G |
9: 7,278,952 (GRCm39) |
F348V |
possibly damaging |
Het |
Mov10l1 |
A |
G |
15: 88,896,181 (GRCm39) |
D675G |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,860,410 (GRCm39) |
C1610R |
probably damaging |
Het |
Nxpe3 |
T |
A |
16: 55,686,804 (GRCm39) |
Q68L |
probably damaging |
Het |
Or4k41 |
A |
T |
2: 111,280,178 (GRCm39) |
D231V |
probably benign |
Het |
Or6c208 |
T |
C |
10: 129,223,939 (GRCm39) |
S146P |
probably damaging |
Het |
Or7e175 |
T |
A |
9: 20,048,793 (GRCm39) |
M127K |
probably damaging |
Het |
Pramel19 |
C |
T |
4: 101,798,724 (GRCm39) |
L232F |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,435,593 (GRCm39) |
T3A |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,070,953 (GRCm39) |
C34S |
probably damaging |
Het |
Sema3f |
A |
G |
9: 107,559,788 (GRCm39) |
L702P |
probably damaging |
Het |
Sptbn2 |
T |
A |
19: 4,774,695 (GRCm39) |
L116Q |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,533,877 (GRCm39) |
V3378A |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,282,976 (GRCm39) |
I158V |
possibly damaging |
Het |
Tbc1d10b |
G |
A |
7: 126,797,925 (GRCm39) |
R739W |
possibly damaging |
Het |
Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
Ube4b |
C |
T |
4: 149,415,821 (GRCm39) |
R1091Q |
probably benign |
Het |
Vwce |
C |
A |
19: 10,627,983 (GRCm39) |
P481Q |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,108,139 (GRCm39) |
M33K |
probably benign |
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 |
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 |
R8000:Pald1
|
UTSW |
10 |
61,183,218 (GRCm39) |
missense |
probably benign |
0.00 |
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'- GCCTTTCTAAGAGGTAGGACC -3'
(R):5'- CGCCTAGGTGATACCATAGCTC -3'
Sequencing Primer
(F):5'- GCCTTTCTAAGAGGTAGGACCAAAAC -3'
(R):5'- AGGTGATACCATAGCTCCTTACTG -3'
|
Posted On |
2016-12-15 |