Incidental Mutation 'IGL02710:Palm3'
| ID |
304519 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Palm3
|
| Ensembl Gene |
ENSMUSG00000047986 |
| Gene Name |
paralemmin 3 |
| Synonyms |
4432412L15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL02710
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84748100-84756924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84754941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 151
(T151I)
|
| 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: T151I
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000051396
Gene: ENSMUSG00000047986
AA Change: T151I
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,373,928 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
G |
A |
10: 76,949,146 (GRCm39) |
A122V |
possibly damaging |
Het |
| Dnai3 |
A |
T |
3: 145,753,903 (GRCm39) |
I719N |
possibly damaging |
Het |
| Dtnb |
T |
A |
12: 3,698,380 (GRCm39) |
H289Q |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,944,744 (GRCm39) |
K1212N |
probably damaging |
Het |
| Gm10392 |
T |
C |
11: 77,409,294 (GRCm39) |
H44R |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,787,562 (GRCm39) |
A1740T |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Knl1 |
A |
C |
2: 118,901,411 (GRCm39) |
E1037D |
probably damaging |
Het |
| Lsg1 |
A |
T |
16: 30,390,292 (GRCm39) |
D274E |
probably benign |
Het |
| Msantd3 |
A |
G |
4: 48,552,686 (GRCm39) |
K92E |
probably damaging |
Het |
| Nap1l4 |
G |
A |
7: 143,077,998 (GRCm39) |
T312I |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,456,802 (GRCm39) |
E988G |
probably damaging |
Het |
| Or11g2 |
C |
T |
14: 50,856,255 (GRCm39) |
T192I |
probably benign |
Het |
| Pde1b |
T |
C |
15: 103,430,484 (GRCm39) |
W144R |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,207,730 (GRCm39) |
L1427P |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,804,496 (GRCm39) |
H456L |
possibly damaging |
Het |
| Sec16a |
C |
T |
2: 26,320,142 (GRCm39) |
G1432D |
possibly damaging |
Het |
| Shc1 |
A |
G |
3: 89,331,917 (GRCm39) |
|
probably null |
Het |
| Skint5 |
T |
A |
4: 113,335,156 (GRCm39) |
I1452F |
unknown |
Het |
| Slc35b4 |
C |
A |
6: 34,135,476 (GRCm39) |
V279L |
probably benign |
Het |
| Snx9 |
T |
C |
17: 5,958,873 (GRCm39) |
V283A |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,882,728 (GRCm39) |
F480L |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,670,041 (GRCm39) |
Y132H |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,125,649 (GRCm39) |
I363F |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,398,820 (GRCm39) |
T642I |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,584,897 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,132 (GRCm39) |
N845D |
probably benign |
Het |
| Wdr20 |
A |
T |
12: 110,759,544 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
A |
G |
5: 38,830,061 (GRCm39) |
V648A |
probably damaging |
Het |
| Zfp687 |
A |
T |
3: 94,916,084 (GRCm39) |
S927T |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation