Incidental Mutation 'R1621:Palm3'
| ID |
174663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palm3
|
| Ensembl Gene |
ENSMUSG00000047986 |
| Gene Name |
paralemmin 3 |
| Synonyms |
4432412L15Rik |
| MMRRC Submission |
039658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1621 (G1)
|
| Quality Score |
108 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84748100-84756924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84756651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 721
(S721N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000055077
AA Change: S721N
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051396
Gene: ENSMUSG00000047986
AA Change: S721N
| 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
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,564,041 (GRCm39) |
N253S |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,869,560 (GRCm39) |
H272Y |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,913 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,977,245 (GRCm39) |
V4333I |
probably benign |
Het |
| Cd38 |
A |
G |
5: 44,058,866 (GRCm39) |
D160G |
probably benign |
Het |
| Cdc7 |
A |
G |
5: 107,112,920 (GRCm39) |
S13G |
probably benign |
Het |
| Chrm5 |
G |
T |
2: 112,310,182 (GRCm39) |
D311E |
probably benign |
Het |
| Ctns |
A |
G |
11: 73,079,298 (GRCm39) |
V140A |
possibly damaging |
Het |
| Ets2 |
A |
G |
16: 95,510,913 (GRCm39) |
D57G |
probably damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,817,595 (GRCm39) |
M1K |
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,204,137 (GRCm39) |
F350I |
probably damaging |
Het |
| Hs3st3a1 |
G |
T |
11: 64,327,049 (GRCm39) |
V53F |
probably benign |
Het |
| Ippk |
T |
C |
13: 49,615,044 (GRCm39) |
S427P |
probably benign |
Het |
| Irgm2 |
T |
C |
11: 58,111,364 (GRCm39) |
F364L |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,046,113 (GRCm39) |
K29E |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,834 (GRCm39) |
E187G |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 88,762,480 (GRCm39) |
M176V |
probably benign |
Het |
| Or2z9 |
A |
G |
8: 72,853,973 (GRCm39) |
Y123C |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,873 (GRCm39) |
I1088V |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,226,170 (GRCm39) |
H69R |
probably benign |
Het |
| Pou2af1 |
C |
T |
9: 51,144,160 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prl6a1 |
C |
T |
13: 27,501,993 (GRCm39) |
T120I |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,057,030 (GRCm39) |
F331L |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,618,283 (GRCm39) |
*307R |
probably null |
Het |
| Slc39a6 |
T |
C |
18: 24,733,946 (GRCm39) |
K248E |
probably benign |
Het |
| Slco4a1 |
A |
T |
2: 180,112,925 (GRCm39) |
T386S |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,630,805 (GRCm39) |
I185V |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,676,671 (GRCm39) |
S59G |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,641,433 (GRCm39) |
I392N |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,598,733 (GRCm39) |
I81T |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,589,027 (GRCm39) |
L893S |
probably benign |
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 |
|
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 |
|
R6580:Palm3
|
UTSW |
8 |
84,756,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACCAGGAGCCACTGTTTGTGTC -3'
(R):5'- CTTCATTGCAGAAGGGAGTCAGGG -3'
Sequencing Primer
(F):5'- TAAGCCTGAGCCCTGTACTG -3'
(R):5'- TGGGCAGGGAATCTAAAAGCAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation