Incidental Mutation 'R6586:Palm'
| ID |
524424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palm
|
| Ensembl Gene |
ENSMUSG00000035863 |
| Gene Name |
paralemmin |
| Synonyms |
|
| MMRRC Submission |
044710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6586 (G1)
|
| Quality Score |
193.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79629406-79656730 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79645365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 111
(N111H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046945]
[ENSMUST00000105379]
[ENSMUST00000218631]
|
| AlphaFold |
Q9Z0P4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046945
AA Change: N111H
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863
AA Change: N111H
| 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
AA Change: N111H
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863
AA Change: N111H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
|
Pfam:Paralemmin
|
70 |
339 |
1.5e-123 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217759
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218631
AA Change: N111H
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219711
|
| Meta Mutation Damage Score |
0.1372 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,639 (GRCm39) |
F265L |
possibly damaging |
Het |
| 9930022D16Rik |
A |
G |
11: 109,308,786 (GRCm39) |
T51A |
unknown |
Het |
| Acaa1a |
A |
G |
9: 119,178,604 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,642,332 (GRCm39) |
S280P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,359 (GRCm39) |
S398P |
probably damaging |
Het |
| Cngb3 |
T |
G |
4: 19,280,946 (GRCm39) |
L5R |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,662 (GRCm39) |
F282L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnm2 |
T |
C |
9: 21,416,942 (GRCm39) |
F825S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,716,560 (GRCm39) |
C343* |
probably null |
Het |
| Fah |
T |
A |
7: 84,242,468 (GRCm39) |
D280V |
probably benign |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Flg |
A |
T |
3: 93,200,290 (GRCm39) |
|
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
| Mterf2 |
A |
G |
10: 84,955,970 (GRCm39) |
F218S |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,996,899 (GRCm39) |
V868A |
probably benign |
Het |
| Nrip2 |
T |
A |
6: 128,381,911 (GRCm39) |
C85* |
probably null |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or51v14 |
T |
A |
7: 103,261,183 (GRCm39) |
I126F |
possibly damaging |
Het |
| Pipox |
T |
C |
11: 77,772,005 (GRCm39) |
D373G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,059,287 (GRCm39) |
G3540D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,416,197 (GRCm39) |
T567A |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,164,469 (GRCm39) |
Y81C |
probably damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,366 (GRCm39) |
N131K |
probably damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,752 (GRCm39) |
H214Y |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,454 (GRCm39) |
E386G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,952 (GRCm39) |
T164A |
probably benign |
Het |
| Tmco3 |
G |
T |
8: 13,370,894 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,831 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 98,971,093 (GRCm39) |
R206G |
probably benign |
Het |
| Trim60 |
G |
T |
8: 65,453,248 (GRCm39) |
L334I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,560,754 (GRCm39) |
T29216A |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,446 (GRCm39) |
N218I |
probably benign |
Het |
| Vps25 |
T |
G |
11: 101,149,835 (GRCm39) |
V125G |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,911 (GRCm39) |
M83K |
probably benign |
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 |
|
R3439:Palm
|
UTSW |
10 |
79,652,618 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- ACCGTGGCATGTGTACACAC -3'
(R):5'- GGCATAGAAGTTGCCTCCAC -3'
Sequencing Primer
(F):5'- TCTACATAGTGAGTTCCAGGACAGC -3'
(R):5'- TCAGAGAGGTCAAGCAGTTCCTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation