Incidental Mutation 'R5292:Palmd'
| ID |
405185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palmd
|
| Ensembl Gene |
ENSMUSG00000033377 |
| Gene Name |
palmdelphin |
| Synonyms |
4631423C22Rik, PALML |
| MMRRC Submission |
042875-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5292 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116711907-116762636 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116717393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 368
(E368G)
|
| 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: E368G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: E368G
| 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: E368G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: E368G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
G |
8: 25,354,467 (GRCm39) |
V641A |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,055,912 (GRCm39) |
M1465L |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,407,933 (GRCm39) |
|
probably null |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,842,185 (GRCm39) |
Y433C |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,268,358 (GRCm39) |
T154A |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,439,159 (GRCm39) |
Y1241C |
probably damaging |
Het |
| Depdc1b |
T |
C |
13: 108,510,376 (GRCm39) |
V296A |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,873,685 (GRCm39) |
S270P |
probably damaging |
Het |
| Gcm1 |
T |
C |
9: 77,968,708 (GRCm39) |
F136S |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,053,237 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
G |
T |
10: 86,492,562 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
A |
G |
12: 108,294,037 (GRCm39) |
T648A |
probably benign |
Het |
| Hr |
C |
A |
14: 70,809,432 (GRCm39) |
Q1177K |
probably damaging |
Het |
| Hrnr |
T |
C |
3: 93,239,199 (GRCm39) |
S3146P |
unknown |
Het |
| Igkv10-94 |
C |
T |
6: 68,681,582 (GRCm39) |
G86E |
probably damaging |
Het |
| Krt80 |
G |
A |
15: 101,250,066 (GRCm39) |
R222W |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,796,177 (GRCm39) |
Y354H |
probably damaging |
Het |
| Or10g1 |
A |
T |
14: 52,647,902 (GRCm39) |
N142K |
possibly damaging |
Het |
| Or3a1b |
T |
A |
11: 74,012,877 (GRCm39) |
F254Y |
probably damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,339 (GRCm39) |
N43Y |
probably damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,958,779 (GRCm39) |
D932G |
probably benign |
Het |
| Pakap |
T |
G |
4: 57,855,356 (GRCm39) |
S471R |
probably damaging |
Het |
| Peg3 |
T |
A |
7: 6,711,259 (GRCm39) |
D1321V |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,392,962 (GRCm39) |
I1766F |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,881,745 (GRCm39) |
E1303G |
probably damaging |
Het |
| Ppie |
A |
G |
4: 123,033,701 (GRCm39) |
Y9H |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,581 (GRCm39) |
N1557S |
probably benign |
Het |
| Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
| Rtn4 |
T |
C |
11: 29,657,924 (GRCm39) |
F577L |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,449,432 (GRCm39) |
Y3826C |
probably damaging |
Het |
| Slc32a1 |
A |
G |
2: 158,453,307 (GRCm39) |
D49G |
probably damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,150,453 (GRCm39) |
C167* |
probably null |
Het |
| Slc5a1 |
G |
T |
5: 33,315,585 (GRCm39) |
V535F |
probably benign |
Het |
| Smoc2 |
A |
G |
17: 14,556,835 (GRCm39) |
K95E |
probably damaging |
Het |
| Smok3c |
A |
C |
5: 138,063,446 (GRCm39) |
Q311P |
probably damaging |
Het |
| Spink5 |
C |
A |
18: 44,139,521 (GRCm39) |
P628Q |
probably benign |
Het |
| Spint4 |
T |
C |
2: 164,542,779 (GRCm39) |
L124S |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,529,626 (GRCm39) |
K1961R |
probably benign |
Het |
| Synpo2 |
C |
A |
3: 122,907,709 (GRCm39) |
V536L |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,880,539 (GRCm39) |
K146E |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,275,460 (GRCm39) |
D2245G |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,971,678 (GRCm39) |
S81P |
probably damaging |
Het |
| Zfp39 |
T |
C |
11: 58,791,415 (GRCm39) |
T91A |
probably damaging |
Het |
| Zfp764l1 |
T |
C |
7: 126,991,659 (GRCm39) |
D97G |
possibly damaging |
Het |
| Zfp936 |
T |
A |
7: 42,838,759 (GRCm39) |
Y75* |
probably null |
Het |
| Zkscan5 |
G |
T |
5: 145,155,451 (GRCm39) |
C374F |
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 |
|
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 |
|
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'- AGCCTGTCAAAAGCTTCTTTTC -3'
(R):5'- CTGCGCACAATATGACCGAC -3'
Sequencing Primer
(F):5'- TTCCTCATTATCATCTGCCTGCTG -3'
(R):5'- AATATGACCGACGGGCTCTCAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation