Incidental Mutation 'R4261:Pald1'
| ID |
322662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pald1
|
| Ensembl Gene |
ENSMUSG00000020092 |
| Gene Name |
phosphatase domain containing, paladin 1 |
| Synonyms |
paladin, X99384 |
| MMRRC Submission |
041074-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4261 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
61155435-61219309 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61179471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 466
(L466P)
|
| 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: L466P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020289
Gene: ENSMUSG00000020092
AA Change: L466P
| 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
|
| Meta Mutation Damage Score |
0.8487 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
| Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
| Adam9 |
G |
A |
8: 25,454,923 (GRCm39) |
Q733* |
probably null |
Het |
| Adamts4 |
C |
T |
1: 171,086,673 (GRCm39) |
P822S |
probably benign |
Het |
| Arhgap9 |
G |
C |
10: 127,164,334 (GRCm39) |
R537P |
probably damaging |
Het |
| Bsn |
T |
A |
9: 107,987,883 (GRCm39) |
|
probably benign |
Het |
| Car5a |
A |
T |
8: 122,671,488 (GRCm39) |
H15Q |
probably benign |
Het |
| Disp1 |
A |
T |
1: 182,870,950 (GRCm39) |
I490N |
probably damaging |
Het |
| Dlgap5 |
T |
G |
14: 47,651,245 (GRCm39) |
Y96S |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,807,201 (GRCm39) |
V162D |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,892,123 (GRCm39) |
M821K |
possibly damaging |
Het |
| Exoc3l |
T |
C |
8: 106,017,599 (GRCm39) |
R528G |
probably damaging |
Het |
| Fam234b |
G |
A |
6: 135,186,134 (GRCm39) |
G17E |
unknown |
Het |
| Grhl2 |
G |
A |
15: 37,361,067 (GRCm39) |
G617D |
possibly damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Hoxd9 |
C |
A |
2: 74,526,031 (GRCm39) |
|
probably benign |
Het |
| Hspa9 |
A |
G |
18: 35,072,476 (GRCm39) |
S550P |
probably damaging |
Het |
| Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
| Kat6b |
T |
A |
14: 21,719,737 (GRCm39) |
I1363N |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,598,362 (GRCm39) |
C614* |
probably null |
Het |
| Mphosph8 |
A |
G |
14: 56,911,922 (GRCm39) |
D315G |
probably benign |
Het |
| Mthfr-ps1 |
A |
C |
5: 78,622,330 (GRCm39) |
|
noncoding transcript |
Het |
| Mug1 |
A |
G |
6: 121,850,693 (GRCm39) |
T730A |
probably benign |
Het |
| Myef2 |
T |
C |
2: 124,957,399 (GRCm39) |
T119A |
possibly damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,481,512 (GRCm39) |
V286M |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,824,950 (GRCm39) |
D647G |
probably damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
| Pkp4 |
A |
G |
2: 59,135,506 (GRCm39) |
Y126C |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,300,993 (GRCm39) |
I109V |
probably benign |
Het |
| Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
| Ppp2r5d |
G |
A |
17: 46,998,007 (GRCm39) |
Q219* |
probably null |
Het |
| Raf1 |
C |
T |
6: 115,600,015 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
C |
T |
9: 72,523,925 (GRCm39) |
R372W |
probably damaging |
Het |
| Robo4 |
C |
A |
9: 37,316,877 (GRCm39) |
S397R |
probably benign |
Het |
| Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
| Serpina1c |
T |
C |
12: 103,863,339 (GRCm39) |
K287R |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,628,384 (GRCm39) |
Y14592F |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,536,489 (GRCm39) |
F245S |
possibly damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,335,879 (GRCm39) |
|
probably null |
Het |
| Wdr91 |
T |
A |
6: 34,881,457 (GRCm39) |
S297C |
possibly damaging |
Het |
| Zcwpw2 |
T |
C |
9: 117,827,982 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- ACTCTGTGTCAAAGCTCTGGG -3'
(R):5'- TCACAGTGATACCTTTCGGGC -3'
Sequencing Primer
(F):5'- GGCACATTCTGCTCACATGAG -3'
(R):5'- CTCCCTTTCTGTGGCTAGGCAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation