Incidental Mutation 'R4495:Palm3'
| ID |
330934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palm3
|
| Ensembl Gene |
ENSMUSG00000047986 |
| Gene Name |
paralemmin 3 |
| Synonyms |
4432412L15Rik |
| MMRRC Submission |
041583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R4495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84748100-84756924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84753495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 97
(R97C)
|
| 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: R97C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000051396
Gene: ENSMUSG00000047986
AA Change: R97C
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
T |
C |
2: 179,422,182 (GRCm39) |
V102A |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
| Cyp2b9 |
T |
A |
7: 25,900,180 (GRCm39) |
D329E |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,429 (GRCm39) |
F375S |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,124,792 (GRCm39) |
S154A |
probably benign |
Het |
| Fry |
G |
T |
5: 150,233,928 (GRCm39) |
E133D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,322,034 (GRCm39) |
L4562P |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,433,079 (GRCm39) |
E505V |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,416 (GRCm39) |
E1050G |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,088,301 (GRCm39) |
|
probably null |
Het |
| Klra10 |
T |
G |
6: 130,256,311 (GRCm39) |
E114D |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,813 (GRCm39) |
I38V |
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,581,429 (GRCm39) |
T412S |
probably benign |
Het |
| Or4k37 |
T |
A |
2: 111,159,365 (GRCm39) |
N200K |
probably benign |
Het |
| Pdcd11 |
T |
C |
19: 47,099,445 (GRCm39) |
V848A |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,556,416 (GRCm39) |
V188A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,450 (GRCm39) |
T235A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,111,146 (GRCm39) |
|
probably null |
Het |
| Sidt1 |
C |
T |
16: 44,102,841 (GRCm39) |
V295M |
probably damaging |
Het |
| Sla |
T |
C |
15: 66,673,361 (GRCm39) |
T10A |
probably benign |
Het |
| Slc22a20 |
A |
G |
19: 6,034,952 (GRCm39) |
S170P |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,876 (GRCm39) |
C280* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,922 (GRCm39) |
K125* |
probably null |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,905 (GRCm39) |
L237H |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Wdr53 |
A |
G |
16: 32,070,969 (GRCm39) |
T105A |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
| Zfp704 |
T |
A |
3: 9,536,137 (GRCm39) |
S128C |
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,286,989 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,625,075 (GRCm39) |
D1494E |
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 |
|
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 |
|
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'- ATATGGACATGTCTCCCATCCTG -3'
(R):5'- TGTGGACGCACTTTGCAAC -3'
Sequencing Primer
(F):5'- TGATGGATGCGCCCTCTG -3'
(R):5'- GCACTTTGCAACAGCTGTAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation