Incidental Mutation 'IGL01527:Palmd'
ID |
89614 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Palmd
|
Ensembl Gene |
ENSMUSG00000033377 |
Gene Name |
palmdelphin |
Synonyms |
4631423C22Rik, PALML |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
IGL01527
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
116711907-116762636 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 116720837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 166
(E166*)
|
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 null
Transcript: ENSMUST00000040097
AA Change: E166*
|
SMART Domains |
Protein: ENSMUSP00000044693 Gene: ENSMUSG00000033377 AA Change: E166*
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 null
Transcript: ENSMUST00000119557
AA Change: E166*
|
SMART Domains |
Protein: ENSMUSP00000113107 Gene: ENSMUSG00000033377 AA Change: E166*
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
G |
T |
17: 35,878,730 (GRCm39) |
|
probably null |
Het |
Abca13 |
T |
A |
11: 9,240,788 (GRCm39) |
W884R |
possibly damaging |
Het |
Ahi1 |
T |
C |
10: 20,835,984 (GRCm39) |
|
probably benign |
Het |
Ankfn1 |
G |
T |
11: 89,282,465 (GRCm39) |
P394Q |
probably benign |
Het |
Cacnb2 |
T |
C |
2: 14,989,081 (GRCm39) |
I393T |
possibly damaging |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,778,880 (GRCm39) |
E269G |
probably damaging |
Het |
Cyp24a1 |
A |
G |
2: 170,338,486 (GRCm39) |
L70P |
probably damaging |
Het |
Cyp8b1 |
T |
C |
9: 121,744,061 (GRCm39) |
K424E |
probably damaging |
Het |
Dicer1 |
G |
A |
12: 104,657,869 (GRCm39) |
Q1902* |
probably null |
Het |
Dst |
T |
A |
1: 34,286,734 (GRCm39) |
L544Q |
probably damaging |
Het |
Esrp2 |
T |
C |
8: 106,858,865 (GRCm39) |
T591A |
probably benign |
Het |
Gap43 |
C |
T |
16: 42,112,516 (GRCm39) |
E82K |
probably benign |
Het |
Ift70a1 |
T |
C |
2: 75,810,860 (GRCm39) |
I408V |
probably benign |
Het |
Kif17 |
G |
A |
4: 137,996,397 (GRCm39) |
V125I |
probably benign |
Het |
Lancl2 |
T |
C |
6: 57,709,307 (GRCm39) |
S370P |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,386,953 (GRCm39) |
I203V |
possibly damaging |
Het |
Mphosph9 |
A |
G |
5: 124,421,687 (GRCm39) |
|
probably benign |
Het |
Ncapg |
A |
G |
5: 45,829,726 (GRCm39) |
I143V |
possibly damaging |
Het |
Nr3c1 |
A |
G |
18: 39,619,690 (GRCm39) |
V199A |
probably benign |
Het |
Obscn |
T |
A |
11: 58,955,243 (GRCm39) |
N3890I |
possibly damaging |
Het |
Or2g7 |
A |
G |
17: 38,378,986 (GRCm39) |
N308S |
probably benign |
Het |
Or2h2c |
A |
T |
17: 37,422,701 (GRCm39) |
Y58N |
probably damaging |
Het |
Or52n5 |
T |
A |
7: 104,588,198 (GRCm39) |
V155E |
possibly damaging |
Het |
Or8g32 |
A |
G |
9: 39,305,114 (GRCm39) |
H6R |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,445,750 (GRCm39) |
E327G |
probably damaging |
Het |
Pex13 |
T |
C |
11: 23,606,111 (GRCm39) |
T40A |
probably benign |
Het |
Pkd2 |
T |
C |
5: 104,646,750 (GRCm39) |
|
probably benign |
Het |
Plb1 |
A |
G |
5: 32,474,467 (GRCm39) |
T643A |
probably damaging |
Het |
Prlr |
T |
A |
15: 10,329,257 (GRCm39) |
D577E |
probably benign |
Het |
Rimoc1 |
T |
C |
15: 4,018,165 (GRCm39) |
Y170C |
probably damaging |
Het |
Slc44a3 |
A |
G |
3: 121,320,777 (GRCm39) |
C75R |
probably damaging |
Het |
Susd6 |
A |
T |
12: 80,921,093 (GRCm39) |
N230I |
possibly damaging |
Het |
Tbx10 |
A |
G |
19: 4,048,227 (GRCm39) |
R251G |
probably damaging |
Het |
Uap1l1 |
A |
G |
2: 25,253,816 (GRCm39) |
|
probably null |
Het |
Ugt2b5 |
A |
G |
5: 87,284,068 (GRCm39) |
V308A |
possibly damaging |
Het |
Usp28 |
C |
A |
9: 48,937,173 (GRCm39) |
H147Q |
probably benign |
Het |
Vmn1r203 |
T |
C |
13: 22,708,447 (GRCm39) |
I76T |
possibly damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,263,158 (GRCm39) |
I101T |
possibly damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,601,006 (GRCm39) |
L768H |
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 |
|
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 |
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 |
|
Posted On |
2013-12-03 |