Incidental Mutation 'R3618:Palm3'
ID |
268520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Palm3
|
Ensembl Gene |
ENSMUSG00000047986 |
Gene Name |
paralemmin 3 |
Synonyms |
4432412L15Rik |
MMRRC Submission |
040675-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R3618 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
84748100-84756924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84755973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 495
(V495E)
|
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 benign
Transcript: ENSMUST00000055077
AA Change: V495E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000051396 Gene: ENSMUSG00000047986 AA Change: V495E
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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,774,168 (GRCm39) |
E1119G |
probably damaging |
Het |
Ahnak2 |
A |
G |
12: 112,749,842 (GRCm39) |
I132T |
probably damaging |
Het |
Arhgap29 |
G |
A |
3: 121,782,176 (GRCm39) |
D63N |
possibly damaging |
Het |
Bsn |
T |
A |
9: 107,994,760 (GRCm39) |
|
probably null |
Het |
Cfap161 |
A |
C |
7: 83,429,390 (GRCm39) |
Y209* |
probably null |
Het |
Drp2 |
A |
C |
X: 133,340,717 (GRCm39) |
D458A |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,834,270 (GRCm39) |
H446R |
probably benign |
Het |
Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
F13a1 |
G |
A |
13: 37,127,967 (GRCm39) |
T337I |
probably damaging |
Het |
Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
Hcfc1 |
A |
T |
X: 72,993,694 (GRCm39) |
V1157D |
probably benign |
Het |
Inava |
A |
C |
1: 136,142,110 (GRCm39) |
V663G |
probably benign |
Het |
Ino80 |
T |
C |
2: 119,277,353 (GRCm39) |
D374G |
probably null |
Het |
Kif1a |
T |
C |
1: 93,004,765 (GRCm39) |
E143G |
probably null |
Het |
Larp1 |
A |
T |
11: 57,948,172 (GRCm39) |
E990D |
probably benign |
Het |
Larp7 |
C |
A |
3: 127,330,614 (GRCm39) |
E568* |
probably null |
Het |
Ltn1 |
A |
T |
16: 87,217,787 (GRCm39) |
S298R |
probably damaging |
Het |
Mcm10 |
A |
G |
2: 5,001,913 (GRCm39) |
|
probably null |
Het |
Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
Mroh1 |
A |
G |
15: 76,336,546 (GRCm39) |
T1590A |
possibly damaging |
Het |
Ncoa6 |
A |
T |
2: 155,249,709 (GRCm39) |
H1198Q |
possibly damaging |
Het |
Ogg1 |
A |
G |
6: 113,305,334 (GRCm39) |
E49G |
probably damaging |
Het |
Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
Parp3 |
T |
C |
9: 106,352,262 (GRCm39) |
E88G |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,735,965 (GRCm39) |
I156T |
probably benign |
Het |
Pus7l |
T |
A |
15: 94,425,788 (GRCm39) |
I538F |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Ryr2 |
C |
T |
13: 11,787,466 (GRCm39) |
|
probably null |
Het |
Slc8a2 |
A |
G |
7: 15,886,824 (GRCm39) |
N656D |
possibly damaging |
Het |
Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
Tbcel |
T |
C |
9: 42,372,591 (GRCm39) |
|
probably benign |
Het |
Trpv3 |
A |
T |
11: 73,186,281 (GRCm39) |
I691F |
probably damaging |
Het |
Uba2 |
A |
G |
7: 33,853,907 (GRCm39) |
|
probably null |
Het |
Usp53 |
A |
C |
3: 122,728,061 (GRCm39) |
S840R |
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,743,692 (GRCm39) |
I452F |
probably benign |
Het |
Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
Het |
Zfp42 |
T |
C |
8: 43,748,938 (GRCm39) |
R188G |
possibly 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 |
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'- TAGCTGTGCTGCCAGATGAG -3'
(R):5'- TCAGCTTCTTCATCCAATGAGC -3'
Sequencing Primer
(F):5'- TGCTGCCAGATGAGACCCAG -3'
(R):5'- AATGAGCCCTCACCTCCTG -3'
|
Posted On |
2015-02-19 |