Incidental Mutation 'R5499:Palmd'
| ID |
430507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palmd
|
| Ensembl Gene |
ENSMUSG00000033377 |
| Gene Name |
palmdelphin |
| Synonyms |
4631423C22Rik, PALML |
| MMRRC Submission |
043060-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5499 (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 A
at 116717481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 339
(M339L)
|
| 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: M339L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: M339L
| 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: M339L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: M339L
| 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: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
G |
A |
2: 68,432,137 (GRCm39) |
E74K |
unknown |
Het |
| Adam10 |
A |
T |
9: 70,647,399 (GRCm39) |
H176L |
probably benign |
Het |
| Anapc5 |
C |
T |
5: 122,926,476 (GRCm39) |
E621K |
probably damaging |
Het |
| Asf1a |
T |
A |
10: 53,482,266 (GRCm39) |
L26Q |
probably damaging |
Het |
| Atxn1l |
A |
G |
8: 110,458,264 (GRCm39) |
L666P |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,373,515 (GRCm39) |
R1265H |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,441,888 (GRCm39) |
|
probably null |
Het |
| Ctse |
T |
A |
1: 131,600,251 (GRCm39) |
Y333* |
probably null |
Het |
| Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,070,209 (GRCm39) |
V1532D |
possibly damaging |
Het |
| Dnai7 |
A |
T |
6: 145,123,157 (GRCm39) |
W570R |
probably damaging |
Het |
| Ercc6 |
G |
A |
14: 32,238,916 (GRCm39) |
M1I |
probably null |
Het |
| Fbxl4 |
A |
G |
4: 22,386,017 (GRCm39) |
E208G |
probably damaging |
Het |
| Fstl4 |
G |
T |
11: 52,959,374 (GRCm39) |
M138I |
probably benign |
Het |
| Galnt17 |
T |
A |
5: 130,929,466 (GRCm39) |
Q447L |
probably benign |
Het |
| H2-Q7 |
T |
A |
17: 35,658,916 (GRCm39) |
C122* |
probably null |
Het |
| Herpud1 |
C |
T |
8: 95,116,041 (GRCm39) |
L69F |
probably damaging |
Het |
| Hnrnpa3 |
A |
G |
2: 75,495,584 (GRCm39) |
Y365C |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,272,128 (GRCm39) |
V553E |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,986,212 (GRCm39) |
Y38H |
probably damaging |
Het |
| Klk1b21 |
A |
G |
7: 43,755,100 (GRCm39) |
I132V |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,365,001 (GRCm39) |
S1252P |
possibly damaging |
Het |
| Lct |
T |
A |
1: 128,214,414 (GRCm39) |
D1786V |
probably damaging |
Het |
| Lrig2 |
T |
A |
3: 104,368,873 (GRCm39) |
M572L |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,408,813 (GRCm39) |
V1710I |
possibly damaging |
Het |
| Mmp12 |
C |
A |
9: 7,353,000 (GRCm39) |
S250R |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,479,615 (GRCm39) |
D1226G |
probably damaging |
Het |
| Myocd |
A |
G |
11: 65,069,575 (GRCm39) |
I755T |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,081,677 (GRCm39) |
L1003P |
probably damaging |
Het |
| Or11h23 |
G |
A |
14: 50,948,324 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or1af1 |
T |
C |
2: 37,109,777 (GRCm39) |
I92T |
possibly damaging |
Het |
| Or52e8b |
A |
T |
7: 104,674,184 (GRCm39) |
M1K |
probably null |
Het |
| Phtf1 |
T |
A |
3: 103,898,491 (GRCm39) |
N307K |
probably benign |
Het |
| Ppp2r3c |
T |
C |
12: 55,335,411 (GRCm39) |
I243V |
probably benign |
Het |
| Ptafr |
A |
G |
4: 132,306,646 (GRCm39) |
E12G |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,378,042 (GRCm39) |
N463K |
probably benign |
Het |
| Sgcb |
T |
C |
5: 73,801,748 (GRCm39) |
N39S |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,799,700 (GRCm39) |
|
probably null |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn8 |
C |
A |
11: 82,895,042 (GRCm39) |
S588I |
probably damaging |
Het |
| Tcea2 |
A |
G |
2: 181,322,227 (GRCm39) |
I10V |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Top2a |
C |
T |
11: 98,913,202 (GRCm39) |
V77I |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Vrk1 |
A |
G |
12: 106,018,024 (GRCm39) |
K98E |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,322 (GRCm39) |
T931I |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,246,598 (GRCm39) |
L895H |
probably damaging |
Het |
| Zfp101 |
T |
C |
17: 33,601,318 (GRCm39) |
E108G |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,610,137 (GRCm39) |
V942A |
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 |
|
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'- TCATCCACATCAGAAGGCAGG -3'
(R):5'- AAGAGTCATAAGCCCTGGACC -3'
Sequencing Primer
(F):5'- GGGAATGAACGATGTTATATCTGAC -3'
(R):5'- GTCATAAGCCCTGGACCAAATTTTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation