Incidental Mutation 'R3982:Palmd'
ID |
345297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Palmd
|
Ensembl Gene |
ENSMUSG00000033377 |
Gene Name |
palmdelphin |
Synonyms |
4631423C22Rik, PALML |
MMRRC Submission |
041608-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R3982 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116711907-116762636 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116717472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 342
(T342A)
|
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 benign
Transcript: ENSMUST00000040097
AA Change: T342A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000044693 Gene: ENSMUSG00000033377 AA Change: T342A
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 benign
Transcript: ENSMUST00000119557
AA Change: T342A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000113107 Gene: ENSMUSG00000033377 AA Change: T342A
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 |
0.0888 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
Adgrg6 |
T |
C |
10: 14,324,589 (GRCm39) |
N445S |
probably benign |
Het |
Adgrl3 |
A |
G |
5: 81,842,373 (GRCm39) |
T902A |
possibly damaging |
Het |
Atf4 |
T |
C |
15: 80,141,069 (GRCm39) |
V153A |
probably benign |
Het |
Bsn |
T |
C |
9: 107,984,365 (GRCm39) |
T3230A |
unknown |
Het |
Cadps2 |
A |
G |
6: 23,263,530 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
Cth |
A |
T |
3: 157,619,334 (GRCm39) |
L163* |
probably null |
Het |
Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
Frmd6 |
T |
C |
12: 70,934,608 (GRCm39) |
L269P |
probably damaging |
Het |
Gpr62 |
G |
A |
9: 106,342,085 (GRCm39) |
A281V |
probably benign |
Het |
Hapln1 |
T |
A |
13: 89,753,560 (GRCm39) |
F242Y |
probably benign |
Het |
Ighv1-39 |
A |
T |
12: 114,878,251 (GRCm39) |
S107T |
possibly damaging |
Het |
Itga8 |
A |
G |
2: 12,305,774 (GRCm39) |
V72A |
possibly damaging |
Het |
Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
Klre1 |
T |
A |
6: 129,560,101 (GRCm39) |
C124* |
probably null |
Het |
Lrrk2 |
T |
A |
15: 91,593,487 (GRCm39) |
M482K |
probably benign |
Het |
Man2b2 |
T |
C |
5: 36,971,164 (GRCm39) |
N734S |
probably benign |
Het |
Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
Mdga1 |
C |
A |
17: 30,150,238 (GRCm39) |
A125S |
unknown |
Het |
Mmd2 |
T |
C |
5: 142,550,554 (GRCm39) |
Y228C |
probably damaging |
Het |
Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
Nifk |
T |
A |
1: 118,257,282 (GRCm39) |
S138R |
possibly damaging |
Het |
Nlrp4b |
T |
C |
7: 10,448,358 (GRCm39) |
V187A |
possibly damaging |
Het |
Pigo |
A |
T |
4: 43,023,482 (GRCm39) |
S231T |
probably benign |
Het |
Pik3cb |
G |
A |
9: 98,928,654 (GRCm39) |
T867M |
probably benign |
Het |
Plag1 |
A |
T |
4: 3,904,055 (GRCm39) |
S379T |
probably damaging |
Het |
Polg2 |
G |
A |
11: 106,670,028 (GRCm39) |
R81* |
probably null |
Het |
Prpf4b |
C |
T |
13: 35,068,196 (GRCm39) |
|
probably benign |
Het |
Ptprq |
T |
A |
10: 107,379,257 (GRCm39) |
I1981F |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
Usp24 |
G |
A |
4: 106,245,080 (GRCm39) |
E1307K |
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,578,948 (GRCm39) |
M807K |
probably damaging |
Het |
Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly 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 |
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 |
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'- TCATCCACATCAGAAGGCAGG -3'
(R):5'- TCATAAGCCCTGGACCAAATTTTC -3'
Sequencing Primer
(F):5'- GGGAATGAACGATGTTATATCTGAC -3'
(R):5'- CCTGGACCAAATTTTCAAGAAAGG -3'
|
Posted On |
2015-09-25 |