Incidental Mutation 'R3981:Palmd'
ID |
351154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Palmd
|
Ensembl Gene |
ENSMUSG00000033377 |
Gene Name |
palmdelphin |
Synonyms |
4631423C22Rik, PALML |
MMRRC Submission |
040943-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R3981 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
116711907-116762636 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116717472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 342
(T342A)
|
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 benign
Transcript: ENSMUST00000040097
AA Change: T342A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000044693 Gene: ENSMUSG00000033377 AA Change: T342A
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 benign
Transcript: ENSMUST00000119557
AA Change: T342A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000113107 Gene: ENSMUSG00000033377 AA Change: T342A
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 |
|
Meta Mutation Damage Score |
0.0888 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,482,407 (GRCm39) |
C4313G |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
Bhlhe22 |
G |
T |
3: 18,109,058 (GRCm39) |
R36L |
probably damaging |
Het |
Cacnb2 |
A |
G |
2: 14,609,314 (GRCm39) |
E18G |
probably benign |
Het |
Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
Cep295 |
G |
T |
9: 15,228,363 (GRCm39) |
|
probably benign |
Het |
Cep89 |
A |
G |
7: 35,137,808 (GRCm39) |
R731G |
probably damaging |
Het |
Chrnb3 |
C |
T |
8: 27,884,034 (GRCm39) |
T257M |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,631,797 (GRCm39) |
K236R |
probably benign |
Het |
Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
Cry1 |
A |
T |
10: 84,982,456 (GRCm39) |
Y297N |
probably damaging |
Het |
Defb38 |
A |
G |
8: 19,076,483 (GRCm39) |
|
probably null |
Het |
Dlgap1 |
A |
G |
17: 70,823,780 (GRCm39) |
K255R |
probably damaging |
Het |
Erich6 |
T |
C |
3: 58,544,125 (GRCm39) |
E154G |
probably benign |
Het |
Esf1 |
G |
A |
2: 140,000,476 (GRCm39) |
P437S |
probably benign |
Het |
Fkbp7 |
A |
C |
2: 76,493,601 (GRCm39) |
N197K |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,789,006 (GRCm39) |
D342E |
probably benign |
Het |
Gbx1 |
T |
C |
5: 24,731,213 (GRCm39) |
D201G |
probably benign |
Het |
Gm15056 |
T |
A |
8: 21,390,957 (GRCm39) |
K25N |
possibly damaging |
Het |
Grb7 |
T |
G |
11: 98,345,391 (GRCm39) |
|
probably benign |
Het |
H2-M3 |
C |
T |
17: 37,582,021 (GRCm39) |
A159V |
probably damaging |
Het |
Hcar1 |
T |
C |
5: 124,016,683 (GRCm39) |
N336S |
probably benign |
Het |
Ift122 |
T |
C |
6: 115,890,882 (GRCm39) |
V807A |
probably benign |
Het |
Maml2 |
T |
C |
9: 13,532,364 (GRCm39) |
V526A |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
Mmd2 |
T |
C |
5: 142,550,554 (GRCm39) |
Y228C |
probably damaging |
Het |
Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
Mras |
T |
C |
9: 99,293,469 (GRCm39) |
D57G |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,367,512 (GRCm39) |
C2274R |
possibly damaging |
Het |
Or8j3c |
T |
A |
2: 86,253,186 (GRCm39) |
Y278F |
probably damaging |
Het |
Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
Ros1 |
G |
A |
10: 51,996,974 (GRCm39) |
H1233Y |
possibly damaging |
Het |
Samd8 |
A |
G |
14: 21,830,248 (GRCm39) |
R225G |
probably null |
Het |
Slc7a11 |
C |
A |
3: 50,382,223 (GRCm39) |
V175L |
probably benign |
Het |
Spata31d1c |
A |
G |
13: 65,182,925 (GRCm39) |
T156A |
possibly damaging |
Het |
Spata31g1 |
C |
T |
4: 42,971,534 (GRCm39) |
T289I |
probably damaging |
Het |
Spmip9 |
T |
C |
6: 70,890,283 (GRCm39) |
N170D |
possibly damaging |
Het |
Stxbp5 |
T |
C |
10: 9,665,060 (GRCm39) |
|
probably benign |
Het |
Tec |
T |
A |
5: 72,980,942 (GRCm39) |
|
probably benign |
Het |
Vps16 |
T |
C |
2: 130,284,514 (GRCm39) |
W728R |
possibly damaging |
Het |
Xirp1 |
T |
C |
9: 119,846,810 (GRCm39) |
E691G |
probably damaging |
Het |
Zfp605 |
T |
C |
5: 110,275,604 (GRCm39) |
S241P |
probably damaging |
Het |
Zfp839 |
G |
A |
12: 110,832,765 (GRCm39) |
G561D |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCATCCACATCAGAAGGCAG -3'
(R):5'- AGAGTCATAAGCCCTGGACC -3'
Sequencing Primer
(F):5'- GGGAATGAACGATGTTATATCTGAC -3'
(R):5'- GTCATAAGCCCTGGACCAAATTTTC -3'
|
Posted On |
2015-10-08 |