Incidental Mutation 'R4955:Palmd'
| ID |
381522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palmd
|
| Ensembl Gene |
ENSMUSG00000033377 |
| Gene Name |
palmdelphin |
| Synonyms |
4631423C22Rik, PALML |
| MMRRC Submission |
042552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4955 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116711907-116762636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116717873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 208
(V208A)
|
| 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: V208A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: V208A
| 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: V208A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: V208A
| 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 |
0.6565 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 4933407L21Rik |
T |
A |
1: 85,859,008 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
T |
G |
11: 109,927,338 (GRCm39) |
E1338D |
probably benign |
Het |
| Arl2bp |
G |
A |
8: 95,397,056 (GRCm39) |
|
probably null |
Het |
| Arsj |
T |
C |
3: 126,232,189 (GRCm39) |
Y312H |
probably benign |
Het |
| Atp8b2 |
G |
T |
3: 89,860,227 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,912,528 (GRCm39) |
V594A |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,295,640 (GRCm39) |
V1646E |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 48,536,914 (GRCm39) |
I96K |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,191,455 (GRCm39) |
Q1556R |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,131,183 (GRCm39) |
|
probably null |
Het |
| H4c9 |
T |
A |
13: 22,225,355 (GRCm39) |
I47F |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,006,702 (GRCm39) |
M1100K |
probably benign |
Het |
| Ing4 |
C |
T |
6: 125,025,164 (GRCm39) |
A225V |
probably damaging |
Het |
| Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
A |
1: 32,559,158 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,821,393 (GRCm39) |
W1566R |
probably damaging |
Het |
| Lrfn5 |
A |
C |
12: 61,886,764 (GRCm39) |
D184A |
probably benign |
Het |
| Mettl2 |
C |
T |
11: 105,028,605 (GRCm39) |
T319I |
possibly damaging |
Het |
| Mgrn1 |
T |
C |
16: 4,752,083 (GRCm39) |
V529A |
probably benign |
Het |
| Naca |
T |
A |
10: 127,878,084 (GRCm39) |
|
probably benign |
Het |
| Ninj2 |
A |
G |
6: 120,174,907 (GRCm39) |
N26S |
probably damaging |
Het |
| Nqo1 |
A |
G |
8: 108,115,489 (GRCm39) |
S263P |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,959,998 (GRCm39) |
T3566A |
probably benign |
Het |
| Opn5 |
A |
T |
17: 42,922,129 (GRCm39) |
F24L |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,789 (GRCm39) |
N42S |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4k41 |
A |
T |
2: 111,279,950 (GRCm39) |
H155L |
probably damaging |
Het |
| Or52a20 |
A |
T |
7: 103,365,912 (GRCm39) |
Y37F |
probably benign |
Het |
| Plekhd1 |
T |
A |
12: 80,768,795 (GRCm39) |
I426N |
possibly damaging |
Het |
| Polq |
T |
G |
16: 36,881,444 (GRCm39) |
Y1203D |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,415,143 (GRCm39) |
F251S |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,260,156 (GRCm39) |
M816V |
probably null |
Het |
| Rab3gap2 |
C |
T |
1: 184,999,352 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
C |
A |
17: 44,347,972 (GRCm39) |
P13Q |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,116,866 (GRCm39) |
V329A |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,318,246 (GRCm39) |
M633T |
probably benign |
Het |
| Stac2 |
A |
C |
11: 97,934,374 (GRCm39) |
L110R |
possibly damaging |
Het |
| Styxl2 |
T |
C |
1: 165,935,661 (GRCm39) |
Y179C |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,154,075 (GRCm39) |
E126G |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,029,615 (GRCm39) |
D176G |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,737,311 (GRCm39) |
|
probably null |
Het |
| Zfp341 |
T |
C |
2: 154,479,950 (GRCm39) |
V467A |
probably damaging |
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 |
|
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 |
|
R5597:Palmd
|
UTSW |
3 |
116,717,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AACGGATTGGCGTACACTGG -3'
(R):5'- AATCAGGACGATTTGTGGGG -3'
Sequencing Primer
(F):5'- CGTACACTGGCTCATGGTAC -3'
(R):5'- CCTAGAACTTGCTCTGTAGGACAGG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation