Incidental Mutation 'R5597:Palmd'
| ID |
437860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palmd
|
| Ensembl Gene |
ENSMUSG00000033377 |
| Gene Name |
palmdelphin |
| Synonyms |
4631423C22Rik, PALML |
| MMRRC Submission |
043149-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116711907-116762636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116717225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 424
(D424V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040097]
[ENSMUST00000119557]
[ENSMUST00000143611]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040097
AA Change: D424V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: D424V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
44 |
N/A |
INTRINSIC |
|
Pfam:Paralemmin
|
65 |
512 |
3.6e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119557
AA Change: D424V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: D424V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
44 |
N/A |
INTRINSIC |
|
Pfam:Paralemmin
|
64 |
278 |
6.6e-14 |
PFAM |
|
Pfam:Paralemmin
|
323 |
515 |
1.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143611
|
| SMART Domains |
Protein: ENSMUSP00000122725
Gene: ENSMUSG00000033377
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
4 |
94 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,927,363 (GRCm39) |
T1330I |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,816,487 (GRCm39) |
V322A |
probably benign |
Het |
| Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,992,131 (GRCm39) |
M1207K |
probably benign |
Het |
| Btla |
A |
G |
16: 45,064,599 (GRCm39) |
T183A |
probably benign |
Het |
| Cdca8 |
G |
A |
4: 124,812,793 (GRCm39) |
R286W |
probably damaging |
Het |
| Cnot6l |
T |
C |
5: 96,278,978 (GRCm39) |
D80G |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,952,097 (GRCm39) |
D93G |
probably damaging |
Het |
| Ctsk |
T |
C |
3: 95,409,007 (GRCm39) |
V130A |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,813,591 (GRCm39) |
E2294G |
possibly damaging |
Het |
| Dcaf5 |
G |
T |
12: 80,386,817 (GRCm39) |
S436R |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,573,611 (GRCm39) |
L1792H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,231,794 (GRCm39) |
V3307A |
probably benign |
Het |
| Frrs1 |
C |
T |
3: 116,671,887 (GRCm39) |
|
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,667,698 (GRCm39) |
L151P |
probably damaging |
Het |
| Hook2 |
A |
G |
8: 85,720,657 (GRCm39) |
N166S |
probably benign |
Het |
| Hp1bp3 |
A |
T |
4: 137,948,939 (GRCm39) |
M1L |
possibly damaging |
Het |
| Igkv4-56 |
T |
A |
6: 69,564,467 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,127,716 (GRCm39) |
C396R |
probably damaging |
Het |
| Lars2 |
A |
T |
9: 123,284,047 (GRCm39) |
D745V |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,433,570 (GRCm39) |
|
probably benign |
Het |
| Mapk4 |
T |
A |
18: 74,070,341 (GRCm39) |
Y184F |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 88,030,789 (GRCm39) |
S889P |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,382,978 (GRCm39) |
S100P |
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,878,506 (GRCm39) |
H154L |
probably benign |
Het |
| Olig2 |
A |
T |
16: 91,023,768 (GRCm39) |
M161L |
probably benign |
Het |
| Or2ah1 |
T |
C |
2: 85,653,804 (GRCm39) |
L163P |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,918,710 (GRCm39) |
V215D |
unknown |
Het |
| Or6c214 |
T |
C |
10: 129,590,755 (GRCm39) |
D188G |
probably damaging |
Het |
| Pdzk1ip1 |
A |
G |
4: 114,950,689 (GRCm39) |
N164D |
probably damaging |
Het |
| Prkag1 |
A |
G |
15: 98,713,789 (GRCm39) |
S14P |
probably damaging |
Het |
| Prss12 |
C |
T |
3: 123,258,389 (GRCm39) |
P161L |
probably benign |
Het |
| Pwwp2a |
T |
C |
11: 43,573,422 (GRCm39) |
V168A |
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,024 (GRCm39) |
D79G |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,542,082 (GRCm39) |
I19F |
probably damaging |
Het |
| Slc30a10 |
C |
A |
1: 185,194,897 (GRCm39) |
H236Q |
probably damaging |
Het |
| Slco3a1 |
C |
A |
7: 73,934,210 (GRCm39) |
R654L |
probably benign |
Het |
| Smad4 |
A |
C |
18: 73,795,898 (GRCm39) |
F165L |
probably benign |
Het |
| Swsap1 |
G |
T |
9: 21,867,242 (GRCm39) |
R62M |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,202,724 (GRCm39) |
M113K |
probably benign |
Het |
| Tmem225 |
A |
G |
9: 40,060,726 (GRCm39) |
N95S |
possibly damaging |
Het |
| Tnni3k |
A |
T |
3: 154,577,765 (GRCm39) |
L658H |
probably damaging |
Het |
| Trem2 |
G |
A |
17: 48,658,840 (GRCm39) |
V202I |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,303,498 (GRCm39) |
L289F |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,919,651 (GRCm39) |
D205V |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,073 (GRCm39) |
D377G |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,781,436 (GRCm39) |
D367G |
probably damaging |
Het |
| Zfp11 |
A |
T |
5: 129,734,166 (GRCm39) |
C432S |
probably benign |
Het |
|
| Other mutations in Palmd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00703:Palmd
|
APN |
3 |
116,721,040 (GRCm39) |
splice site |
probably benign |
|
|
IGL01112:Palmd
|
APN |
3 |
116,717,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01484:Palmd
|
APN |
3 |
116,746,794 (GRCm39) |
splice site |
probably benign |
|
|
IGL01527:Palmd
|
APN |
3 |
116,720,837 (GRCm39) |
nonsense |
probably null |
|
|
IGL01561:Palmd
|
APN |
3 |
116,717,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01975:Palmd
|
APN |
3 |
116,717,283 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0107:Palmd
|
UTSW |
3 |
116,717,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Palmd
|
UTSW |
3 |
116,716,874 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1552:Palmd
|
UTSW |
3 |
116,741,689 (GRCm39) |
splice site |
probably benign |
|
|
R1613:Palmd
|
UTSW |
3 |
116,717,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Palmd
|
UTSW |
3 |
116,717,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Palmd
|
UTSW |
3 |
116,721,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Palmd
|
UTSW |
3 |
116,717,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2869:Palmd
|
UTSW |
3 |
116,717,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2870:Palmd
|
UTSW |
3 |
116,717,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2870:Palmd
|
UTSW |
3 |
116,717,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2871:Palmd
|
UTSW |
3 |
116,717,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2871:Palmd
|
UTSW |
3 |
116,717,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2872:Palmd
|
UTSW |
3 |
116,717,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2872:Palmd
|
UTSW |
3 |
116,717,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2873:Palmd
|
UTSW |
3 |
116,717,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3774:Palmd
|
UTSW |
3 |
116,721,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3981:Palmd
|
UTSW |
3 |
116,717,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3982:Palmd
|
UTSW |
3 |
116,717,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3983:Palmd
|
UTSW |
3 |
116,717,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4955:Palmd
|
UTSW |
3 |
116,717,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Palmd
|
UTSW |
3 |
116,721,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5261:Palmd
|
UTSW |
3 |
116,717,009 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5265:Palmd
|
UTSW |
3 |
116,717,498 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5292:Palmd
|
UTSW |
3 |
116,717,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5499:Palmd
|
UTSW |
3 |
116,717,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5666:Palmd
|
UTSW |
3 |
116,717,750 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5817:Palmd
|
UTSW |
3 |
116,712,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6843:Palmd
|
UTSW |
3 |
116,717,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6854:Palmd
|
UTSW |
3 |
116,717,112 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7052:Palmd
|
UTSW |
3 |
116,717,012 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7450:Palmd
|
UTSW |
3 |
116,721,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Palmd
|
UTSW |
3 |
116,720,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Palmd
|
UTSW |
3 |
116,716,840 (GRCm39) |
makesense |
probably null |
|
|
R9681:Palmd
|
UTSW |
3 |
116,717,120 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1177:Palmd
|
UTSW |
3 |
116,717,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTCTCTTTCTAGGAAGTGG -3'
(R):5'- GCAAGCCCTTGGGAAGAATC -3'
Sequencing Primer
(F):5'- CTCTCTTTCTAGGAAGTGGGGTTG -3'
(R):5'- CACGAAGTTTCTCCAAGGATGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation