Incidental Mutation 'R6949:Pald1'
| ID |
543253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pald1
|
| Ensembl Gene |
ENSMUSG00000020092 |
| Gene Name |
phosphatase domain containing, paladin 1 |
| Synonyms |
paladin, X99384 |
| MMRRC Submission |
045061-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6949 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
61155435-61219309 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61156996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 818
(E818G)
|
| 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: E818G
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020289
Gene: ENSMUSG00000020092
AA Change: E818G
| 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 |
|
| Meta Mutation Damage Score |
0.0908 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
G |
T |
3: 126,804,533 (GRCm39) |
D679E |
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,953,058 (GRCm39) |
Y96N |
probably benign |
Het |
| Cnksr3 |
T |
C |
10: 7,110,757 (GRCm39) |
I35V |
probably benign |
Het |
| Col16a1 |
A |
G |
4: 129,953,116 (GRCm39) |
E424G |
probably damaging |
Het |
| Ctsc |
G |
T |
7: 87,930,666 (GRCm39) |
G82W |
probably damaging |
Het |
| Cxcr4 |
T |
C |
1: 128,517,352 (GRCm39) |
D101G |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,884,138 (GRCm39) |
N635K |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,382,913 (GRCm39) |
M282T |
probably damaging |
Het |
| Dpysl4 |
G |
A |
7: 138,671,915 (GRCm39) |
E172K |
probably damaging |
Het |
| Efcab3 |
A |
C |
11: 104,799,896 (GRCm39) |
T2931P |
probably damaging |
Het |
| Eif2ak3 |
T |
C |
6: 70,855,829 (GRCm39) |
I211T |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,211,144 (GRCm39) |
W386R |
probably benign |
Het |
| Garin1b |
T |
A |
6: 29,323,905 (GRCm39) |
I210N |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,623,265 (GRCm39) |
K146R |
probably benign |
Het |
| Grm7 |
C |
A |
6: 111,472,690 (GRCm39) |
P843Q |
probably damaging |
Het |
| Gtf2e2 |
A |
G |
8: 34,248,726 (GRCm39) |
D171G |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,876,303 (GRCm39) |
S59P |
probably benign |
Het |
| Il7r |
T |
A |
15: 9,508,090 (GRCm39) |
T411S |
probably damaging |
Het |
| Kcp |
T |
A |
6: 29,484,611 (GRCm39) |
|
probably null |
Het |
| Krcc1 |
T |
C |
6: 71,261,135 (GRCm39) |
Y56H |
probably benign |
Het |
| Lmo2 |
T |
A |
2: 103,801,018 (GRCm39) |
M1K |
probably null |
Het |
| Lrit3 |
G |
A |
3: 129,582,934 (GRCm39) |
T351I |
probably damaging |
Het |
| Mcu |
T |
G |
10: 59,292,566 (GRCm39) |
T38P |
possibly damaging |
Het |
| Mylk |
T |
A |
16: 34,820,688 (GRCm39) |
I89N |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,226,725 (GRCm39) |
C996S |
possibly damaging |
Het |
| Npr2 |
A |
G |
4: 43,640,597 (GRCm39) |
E350G |
probably damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,792 (GRCm39) |
Y133C |
probably damaging |
Het |
| Phf19 |
G |
T |
2: 34,794,143 (GRCm39) |
Q210K |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,351 (GRCm39) |
V250M |
probably damaging |
Het |
| Ppm1l |
T |
A |
3: 69,456,736 (GRCm39) |
C218S |
possibly damaging |
Het |
| Prkdc |
G |
A |
16: 15,617,853 (GRCm39) |
R3228H |
probably benign |
Het |
| Pros1 |
A |
T |
16: 62,744,938 (GRCm39) |
T518S |
probably benign |
Het |
| Rdh8 |
T |
A |
9: 20,734,003 (GRCm39) |
V63D |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,386,470 (GRCm39) |
V196A |
possibly damaging |
Het |
| Scgb2b20 |
A |
T |
7: 33,065,724 (GRCm39) |
M1K |
probably null |
Het |
| Scn11a |
A |
G |
9: 119,594,580 (GRCm39) |
V1271A |
probably benign |
Het |
| Serac1 |
C |
A |
17: 6,102,090 (GRCm39) |
D395Y |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,012,771 (GRCm39) |
D2655G |
probably benign |
Het |
| Tm4sf19 |
T |
C |
16: 32,224,676 (GRCm39) |
V8A |
probably benign |
Het |
| Usp3 |
A |
T |
9: 66,427,972 (GRCm39) |
D334E |
probably benign |
Het |
| Uty |
C |
T |
Y: 1,240,000 (GRCm39) |
|
probably null |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,542 (GRCm39) |
N672D |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,100 (GRCm39) |
L751H |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,254,616 (GRCm39) |
S300G |
probably damaging |
Het |
| Zp3r |
G |
T |
1: 130,505,632 (GRCm39) |
S508R |
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 |
|
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 |
|
|
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'- ACAAGTGTCCATCCGAAGC -3'
(R):5'- ACATGCAGGTTTGTGGTAGC -3'
Sequencing Primer
(F):5'- TGTCCATCCGAAGCAATGAG -3'
(R):5'- CTTCTGAGCTGGCTGAGGGC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation