Incidental Mutation 'R3439:Palm'
| ID |
267322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palm
|
| Ensembl Gene |
ENSMUSG00000035863 |
| Gene Name |
paralemmin |
| Synonyms |
|
| MMRRC Submission |
040657-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79629406-79656730 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 79652618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046945]
[ENSMUST00000105379]
[ENSMUST00000169041]
[ENSMUST00000218631]
[ENSMUST00000218857]
[ENSMUST00000220365]
|
| AlphaFold |
Q9Z0P4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046945
|
| SMART Domains |
Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
Pfam:Paralemmin
|
71 |
383 |
4.2e-126 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105379
|
| SMART Domains |
Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
Pfam:Paralemmin
|
70 |
339 |
1.5e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169041
|
| SMART Domains |
Protein: ENSMUSP00000130071
Gene: ENSMUSG00000035852
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
262 |
284 |
N/A |
INTRINSIC |
|
Pfam:AKAP2_C
|
294 |
643 |
1.7e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218857
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220365
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (30/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
C |
A |
15: 10,381,511 (GRCm39) |
P255Q |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,790,508 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,873,322 (GRCm39) |
Y2458H |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,343,992 (GRCm39) |
T1779A |
probably damaging |
Het |
| Glb1l |
A |
T |
1: 75,179,264 (GRCm39) |
C222S |
probably damaging |
Het |
| Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
| Helq |
T |
C |
5: 100,946,170 (GRCm39) |
E57G |
probably damaging |
Het |
| Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
| Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
| Lingo1 |
T |
C |
9: 56,528,017 (GRCm39) |
T191A |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Med13 |
T |
C |
11: 86,176,123 (GRCm39) |
D1624G |
probably damaging |
Het |
| Mthfsd |
A |
G |
8: 121,825,860 (GRCm39) |
V218A |
possibly damaging |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,640,615 (GRCm39) |
S314P |
probably benign |
Het |
| Nwd2 |
G |
A |
5: 63,961,895 (GRCm39) |
R493H |
probably benign |
Het |
| Or4f58 |
T |
C |
2: 111,851,792 (GRCm39) |
M136V |
possibly damaging |
Het |
| Or5an11 |
A |
T |
19: 12,245,759 (GRCm39) |
H55L |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,752 (GRCm39) |
E1115G |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,096,359 (GRCm39) |
F577L |
probably benign |
Het |
| Rnpepl1 |
A |
T |
1: 92,844,662 (GRCm39) |
T385S |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,356,081 (GRCm39) |
I35F |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,365,187 (GRCm39) |
S623N |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,354,700 (GRCm39) |
E1380G |
unknown |
Het |
| Tet2 |
G |
T |
3: 133,172,592 (GRCm39) |
A1890D |
possibly damaging |
Het |
| Tfr2 |
G |
T |
5: 137,572,913 (GRCm39) |
V215F |
probably benign |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vwde |
T |
A |
6: 13,208,374 (GRCm39) |
L169F |
probably damaging |
Het |
|
| Other mutations in Palm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Palm
|
APN |
10 |
79,652,621 (GRCm39) |
splice site |
probably benign |
|
|
IGL03080:Palm
|
APN |
10 |
79,654,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03143:Palm
|
APN |
10 |
79,652,617 (GRCm39) |
splice site |
probably benign |
|
|
R0681:Palm
|
UTSW |
10 |
79,655,327 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1476:Palm
|
UTSW |
10 |
79,651,021 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1534:Palm
|
UTSW |
10 |
79,652,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Palm
|
UTSW |
10 |
79,643,520 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4328:Palm
|
UTSW |
10 |
79,643,520 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4329:Palm
|
UTSW |
10 |
79,643,520 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6586:Palm
|
UTSW |
10 |
79,645,365 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7341:Palm
|
UTSW |
10 |
79,652,697 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7977:Palm
|
UTSW |
10 |
79,629,539 (GRCm39) |
start gained |
probably benign |
|
|
R7987:Palm
|
UTSW |
10 |
79,629,539 (GRCm39) |
start gained |
probably benign |
|
|
R8253:Palm
|
UTSW |
10 |
79,643,511 (GRCm39) |
nonsense |
probably null |
|
|
R8496:Palm
|
UTSW |
10 |
79,642,485 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9098:Palm
|
UTSW |
10 |
79,654,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9682:Palm
|
UTSW |
10 |
79,655,039 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9717:Palm
|
UTSW |
10 |
79,655,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGAGCTATGGAAGGATCTG -3'
(R):5'- TGAGTGACTAACCAGGCCAG -3'
Sequencing Primer
(F):5'- GCTATGGAAGGATCTGGAGTG -3'
(R):5'- TGACTAACCAGGCCAGGAGAAAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation