Incidental Mutation 'IGL03080:Palm'
ID |
417830 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Palm
|
Ensembl Gene |
ENSMUSG00000035863 |
Gene Name |
paralemmin |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03080
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
79629406-79656730 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 79654951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 74
(H74Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046833]
[ENSMUST00000046945]
[ENSMUST00000105379]
[ENSMUST00000169041]
[ENSMUST00000218631]
[ENSMUST00000218687]
[ENSMUST00000218857]
[ENSMUST00000220365]
[ENSMUST00000219305]
|
AlphaFold |
Q9Z0P4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046833
|
SMART Domains |
Protein: ENSMUSP00000048893 Gene: ENSMUSG00000035852
Domain | Start | End | E-Value | Type |
low complexity region
|
262 |
284 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
294 |
643 |
2.2e-140 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046945
AA Change: H236Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040596 Gene: ENSMUSG00000035863 AA Change: H236Q
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
Pfam:Paralemmin
|
71 |
383 |
4.2e-126 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105379
AA Change: H192Q
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101018 Gene: ENSMUSG00000035863 AA Change: H192Q
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: ENSMUST00000218687
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218857
AA Change: H30Q
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220365
AA Change: H74Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219305
|
Coding Region Coverage |
|
Validation Efficiency |
|
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 |
Abce1 |
T |
C |
8: 80,429,630 (GRCm39) |
|
probably null |
Het |
Adgrf3 |
T |
C |
5: 30,401,827 (GRCm39) |
M734V |
probably benign |
Het |
Aqp8 |
T |
G |
7: 123,065,802 (GRCm39) |
|
probably benign |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cntn4 |
A |
G |
6: 106,632,500 (GRCm39) |
D508G |
probably damaging |
Het |
Cyp11b1 |
A |
T |
15: 74,711,285 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
G |
17: 30,937,980 (GRCm39) |
D1619G |
probably benign |
Het |
Eif1ad17 |
A |
T |
12: 87,978,615 (GRCm39) |
|
probably benign |
Het |
Ephb4 |
T |
A |
5: 137,352,345 (GRCm39) |
|
probably benign |
Het |
Ffar3 |
A |
T |
7: 30,554,747 (GRCm39) |
V191E |
probably damaging |
Het |
Galnt1 |
T |
A |
18: 24,402,574 (GRCm39) |
D310E |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,945,563 (GRCm39) |
Y342C |
probably benign |
Het |
Jade1 |
T |
A |
3: 41,554,510 (GRCm39) |
C251* |
probably null |
Het |
Jhy |
T |
C |
9: 40,855,653 (GRCm39) |
E278G |
probably damaging |
Het |
Kif24 |
A |
C |
4: 41,394,417 (GRCm39) |
S819A |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,712,996 (GRCm39) |
L344P |
probably damaging |
Het |
Lrrc27 |
A |
G |
7: 138,810,153 (GRCm39) |
T375A |
probably benign |
Het |
Mbd3 |
C |
T |
10: 80,229,085 (GRCm39) |
R204Q |
probably damaging |
Het |
Nab2 |
T |
C |
10: 127,500,663 (GRCm39) |
N143S |
possibly damaging |
Het |
Nkiras2 |
T |
C |
11: 100,515,105 (GRCm39) |
|
probably null |
Het |
Or7e174 |
A |
T |
9: 20,012,705 (GRCm39) |
I217F |
probably damaging |
Het |
Pros1 |
T |
A |
16: 62,738,506 (GRCm39) |
N408K |
probably damaging |
Het |
Psg23 |
T |
A |
7: 18,340,910 (GRCm39) |
Y448F |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,312,613 (GRCm39) |
P1111Q |
probably benign |
Het |
Rims2 |
A |
G |
15: 39,399,299 (GRCm39) |
S1115G |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,528,160 (GRCm39) |
T777A |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,119,816 (GRCm39) |
D428G |
probably damaging |
Het |
Stard3nl |
A |
T |
13: 19,554,648 (GRCm39) |
|
probably null |
Het |
Sult1d1 |
T |
C |
5: 87,704,847 (GRCm39) |
D214G |
probably benign |
Het |
Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
Tmprss2 |
T |
C |
16: 97,398,044 (GRCm39) |
Y44C |
probably damaging |
Het |
Ttk |
A |
G |
9: 83,725,136 (GRCm39) |
N154D |
probably damaging |
Het |
Tut4 |
T |
A |
4: 108,363,021 (GRCm39) |
S444R |
probably damaging |
Het |
Tyw1 |
T |
C |
5: 130,295,896 (GRCm39) |
Y108H |
probably damaging |
Het |
Vmn2r44 |
C |
A |
7: 8,386,244 (GRCm39) |
|
probably benign |
Het |
Zfand1 |
A |
G |
3: 10,405,797 (GRCm39) |
*269Q |
probably null |
Het |
Zfp142 |
A |
T |
1: 74,610,368 (GRCm39) |
D1039E |
probably benign |
Het |
Zkscan5 |
G |
T |
5: 145,155,460 (GRCm39) |
S377I |
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 |
|
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 |
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 |
|
Posted On |
2016-08-02 |