Incidental Mutation 'R6580:Palm3'
ID |
524088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Palm3
|
Ensembl Gene |
ENSMUSG00000047986 |
Gene Name |
paralemmin 3 |
Synonyms |
4432412L15Rik |
MMRRC Submission |
044704-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6580 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
84748100-84756924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84756177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 563
(E563G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005601]
[ENSMUST00000055077]
|
AlphaFold |
A2TJV2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005601
|
SMART Domains |
Protein: ENSMUSP00000005601 Gene: ENSMUSG00000005465
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Blast:FN3
|
31 |
101 |
2e-6 |
BLAST |
FN3
|
123 |
210 |
3.85e-3 |
SMART |
FN3
|
314 |
396 |
3.78e0 |
SMART |
Blast:FN3
|
411 |
492 |
4e-36 |
BLAST |
low complexity region
|
516 |
532 |
N/A |
INTRINSIC |
low complexity region
|
584 |
596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055077
AA Change: E563G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000051396 Gene: ENSMUSG00000047986 AA Change: E563G
Domain | Start | End | E-Value | Type |
coiled coil region
|
19 |
64 |
N/A |
INTRINSIC |
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
coiled coil region
|
90 |
116 |
N/A |
INTRINSIC |
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
low complexity region
|
248 |
261 |
N/A |
INTRINSIC |
low complexity region
|
277 |
293 |
N/A |
INTRINSIC |
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
low complexity region
|
399 |
416 |
N/A |
INTRINSIC |
low complexity region
|
635 |
647 |
N/A |
INTRINSIC |
low complexity region
|
707 |
720 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142367
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210245
|
Meta Mutation Damage Score |
0.1259 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
97% (32/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
Cimap2 |
G |
T |
4: 106,468,711 (GRCm39) |
H271N |
possibly damaging |
Het |
Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
probably damaging |
Het |
|
Other mutations in Palm3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01307:Palm3
|
APN |
8 |
84,756,074 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02634:Palm3
|
APN |
8 |
84,755,494 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02710:Palm3
|
APN |
8 |
84,754,941 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0277:Palm3
|
UTSW |
8 |
84,755,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R0323:Palm3
|
UTSW |
8 |
84,755,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R0422:Palm3
|
UTSW |
8 |
84,755,492 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0507:Palm3
|
UTSW |
8 |
84,754,958 (GRCm39) |
missense |
probably benign |
0.00 |
R0835:Palm3
|
UTSW |
8 |
84,754,776 (GRCm39) |
missense |
probably benign |
|
R1037:Palm3
|
UTSW |
8 |
84,755,901 (GRCm39) |
missense |
probably benign |
|
R1618:Palm3
|
UTSW |
8 |
84,756,291 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1621:Palm3
|
UTSW |
8 |
84,756,651 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1797:Palm3
|
UTSW |
8 |
84,755,432 (GRCm39) |
missense |
probably benign |
0.00 |
R1989:Palm3
|
UTSW |
8 |
84,756,651 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3618:Palm3
|
UTSW |
8 |
84,755,973 (GRCm39) |
missense |
probably benign |
0.00 |
R3619:Palm3
|
UTSW |
8 |
84,755,973 (GRCm39) |
missense |
probably benign |
0.00 |
R4495:Palm3
|
UTSW |
8 |
84,753,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R4588:Palm3
|
UTSW |
8 |
84,756,015 (GRCm39) |
missense |
probably benign |
0.20 |
R4687:Palm3
|
UTSW |
8 |
84,756,564 (GRCm39) |
missense |
probably benign |
0.00 |
R4948:Palm3
|
UTSW |
8 |
84,753,708 (GRCm39) |
nonsense |
probably null |
|
R5265:Palm3
|
UTSW |
8 |
84,748,159 (GRCm39) |
critical splice donor site |
probably null |
|
R5951:Palm3
|
UTSW |
8 |
84,756,049 (GRCm39) |
missense |
probably benign |
0.02 |
R7237:Palm3
|
UTSW |
8 |
84,756,117 (GRCm39) |
missense |
probably benign |
0.00 |
R7562:Palm3
|
UTSW |
8 |
84,748,136 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7676:Palm3
|
UTSW |
8 |
84,756,074 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7923:Palm3
|
UTSW |
8 |
84,756,090 (GRCm39) |
missense |
probably benign |
|
R8118:Palm3
|
UTSW |
8 |
84,756,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R8680:Palm3
|
UTSW |
8 |
84,756,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R9500:Palm3
|
UTSW |
8 |
84,753,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGAGAAGCCATTGGTGACAG -3'
(R):5'- ACAAACAGTGGCTCCTGGTG -3'
Sequencing Primer
(F):5'- GAAGTGAGATGCCATTGG -3'
(R):5'- TCCTGGTGGGCTGGCATC -3'
|
Posted On |
2018-06-22 |