Incidental Mutation 'R8876:Palmd'
ID |
676562 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Palmd
|
Ensembl Gene |
ENSMUSG00000033377 |
Gene Name |
palmdelphin |
Synonyms |
4631423C22Rik, PALML |
MMRRC Submission |
068688-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R8876 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116711907-116762636 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 116720899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 145
(D145A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044693
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040097]
[ENSMUST00000119557]
[ENSMUST00000143611]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040097
AA Change: D145A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044693 Gene: ENSMUSG00000033377 AA Change: D145A
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 damaging
Transcript: ENSMUST00000119557
AA Change: D145A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113107 Gene: ENSMUSG00000033377 AA Change: D145A
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accs |
A |
C |
2: 93,668,403 (GRCm39) |
L356R |
probably damaging |
Het |
Acvr1 |
A |
T |
2: 58,338,422 (GRCm39) |
D433E |
possibly damaging |
Het |
Aldh3b1 |
A |
G |
19: 3,971,502 (GRCm39) |
L122P |
probably damaging |
Het |
Ap3b1 |
T |
G |
13: 94,540,586 (GRCm39) |
N169K |
possibly damaging |
Het |
Apbb2 |
A |
G |
5: 66,609,000 (GRCm39) |
S216P |
probably benign |
Het |
Arap3 |
T |
A |
18: 38,130,077 (GRCm39) |
H28L |
possibly damaging |
Het |
Arhgap44 |
C |
T |
11: 64,898,896 (GRCm39) |
M760I |
possibly damaging |
Het |
Arhgef19 |
G |
T |
4: 140,975,193 (GRCm39) |
A304S |
probably benign |
Het |
Atpaf1 |
T |
C |
4: 115,645,548 (GRCm39) |
I139T |
possibly damaging |
Het |
BC024139 |
G |
T |
15: 76,010,320 (GRCm39) |
T62K |
possibly damaging |
Het |
Bmal2 |
G |
A |
6: 146,723,492 (GRCm39) |
G274D |
probably benign |
Het |
Capn5 |
T |
C |
7: 97,780,902 (GRCm39) |
T292A |
probably benign |
Het |
Card19 |
T |
C |
13: 49,358,814 (GRCm39) |
N53S |
possibly damaging |
Het |
Cep97 |
A |
G |
16: 55,742,467 (GRCm39) |
V232A |
possibly damaging |
Het |
Cfap298 |
A |
G |
16: 90,724,281 (GRCm39) |
I164T |
possibly damaging |
Het |
Clca3a2 |
G |
T |
3: 144,777,360 (GRCm39) |
T837K |
probably benign |
Het |
Col8a2 |
G |
C |
4: 126,204,647 (GRCm39) |
G219A |
probably damaging |
Het |
Ctu2 |
T |
C |
8: 123,206,951 (GRCm39) |
S365P |
|
Het |
Dnah2 |
T |
C |
11: 69,382,348 (GRCm39) |
D1254G |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,420,828 (GRCm39) |
L1686S |
probably damaging |
Het |
Fgr |
A |
G |
4: 132,726,071 (GRCm39) |
|
probably benign |
Het |
Frmd4a |
T |
A |
2: 4,606,111 (GRCm39) |
S612T |
probably damaging |
Het |
Gadd45gip1 |
T |
C |
8: 85,560,748 (GRCm39) |
I121T |
probably damaging |
Het |
Gapvd1 |
A |
G |
2: 34,568,560 (GRCm39) |
V1353A |
possibly damaging |
Het |
Gdf3 |
G |
A |
6: 122,583,942 (GRCm39) |
P142S |
probably damaging |
Het |
Gm19965 |
G |
A |
1: 116,749,776 (GRCm39) |
G486R |
unknown |
Het |
Gpatch2l |
T |
C |
12: 86,308,405 (GRCm39) |
L307P |
probably damaging |
Het |
Grm3 |
T |
C |
5: 9,561,580 (GRCm39) |
K757E |
probably damaging |
Het |
Inppl1 |
T |
A |
7: 101,472,750 (GRCm39) |
H1218L |
possibly damaging |
Het |
Jag2 |
T |
C |
12: 112,873,257 (GRCm39) |
I1055V |
probably benign |
Het |
Krtap9-5 |
G |
T |
11: 99,840,340 (GRCm39) |
C347F |
unknown |
Het |
Magi2 |
T |
A |
5: 20,856,190 (GRCm39) |
Y1050* |
probably null |
Het |
Myrf |
A |
G |
19: 10,206,378 (GRCm39) |
|
probably benign |
Het |
Ntpcr |
T |
G |
8: 126,464,785 (GRCm39) |
|
probably benign |
Het |
Or13a19 |
T |
C |
7: 139,902,716 (GRCm39) |
Y35H |
probably damaging |
Het |
Or1p1b |
C |
T |
11: 74,130,846 (GRCm39) |
T152I |
probably damaging |
Het |
Or2y1c |
T |
C |
11: 49,361,386 (GRCm39) |
M136T |
probably damaging |
Het |
Pdcd1 |
A |
G |
1: 93,980,155 (GRCm39) |
S21P |
probably benign |
Het |
Pkn1 |
T |
C |
8: 84,398,879 (GRCm39) |
T696A |
possibly damaging |
Het |
Pnpt1 |
T |
A |
11: 29,096,769 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
T |
A |
7: 110,049,146 (GRCm39) |
I273F |
probably damaging |
Het |
Skic3 |
T |
G |
13: 76,323,403 (GRCm39) |
D1382E |
probably benign |
Het |
Slc16a4 |
A |
T |
3: 107,208,101 (GRCm39) |
N204Y |
probably benign |
Het |
Slc38a1 |
T |
C |
15: 96,514,091 (GRCm39) |
I44V |
possibly damaging |
Het |
Smpdl3a |
T |
C |
10: 57,685,166 (GRCm39) |
V312A |
probably damaging |
Het |
Ston1 |
A |
G |
17: 88,942,600 (GRCm39) |
Y2C |
probably benign |
Het |
Syde1 |
A |
T |
10: 78,425,325 (GRCm39) |
Y229N |
probably damaging |
Het |
Ttc6 |
T |
A |
12: 57,784,489 (GRCm39) |
C1853S |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,609,249 (GRCm39) |
I17650T |
possibly damaging |
Het |
Upf1 |
T |
C |
8: 70,796,918 (GRCm39) |
E105G |
possibly damaging |
Het |
Wrn |
A |
G |
8: 33,814,422 (GRCm39) |
W341R |
probably benign |
Het |
Xndc1 |
C |
T |
7: 101,729,754 (GRCm39) |
P267L |
probably benign |
Het |
Zbtb26 |
T |
C |
2: 37,326,896 (GRCm39) |
T47A |
probably benign |
Het |
Zc3h10 |
A |
T |
10: 128,380,163 (GRCm39) |
V398E |
probably damaging |
Het |
Zfp652 |
G |
T |
11: 95,639,921 (GRCm39) |
|
probably benign |
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 |
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 |
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'- GCTGTGGTCCATGTGCATCT -3'
(R):5'- ACAGTCCGTGAAGGTGGAAA -3'
Sequencing Primer
(F):5'- ACACACACAAACATACATACATACG -3'
(R):5'- TCCGTGAAGGTGGAAAAGGAAG -3'
|
Posted On |
2021-07-15 |