Incidental Mutation 'IGL01986:Lmntd1'
| ID |
181928 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmntd1
|
| Ensembl Gene |
ENSMUSG00000054966 |
| Gene Name |
lamin tail domain containing 1 |
| Synonyms |
4933403M22Rik, Ifltd1, Lmna-rs1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL01986
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
145311619-145560045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145365533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 53
(S53P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111706]
[ENSMUST00000111708]
[ENSMUST00000148739]
|
| AlphaFold |
Q9D4C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111706
AA Change: S149P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107335
Gene: ENSMUSG00000054966
AA Change: S149P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LTD
|
121 |
240 |
1.1e-18 |
PFAM |
|
low complexity region
|
324 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111708
AA Change: S199P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107337
Gene: ENSMUSG00000054966
AA Change: S199P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LTD
|
174 |
287 |
1.6e-12 |
PFAM |
|
low complexity region
|
374 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
412 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148739
AA Change: S53P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120740
Gene: ENSMUSG00000054966
AA Change: S53P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LTD
|
24 |
144 |
1.2e-18 |
PFAM |
|
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
T |
2: 152,282,956 (GRCm39) |
I245F |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,627,088 (GRCm39) |
G1263D |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,265 (GRCm39) |
S1442T |
probably damaging |
Het |
| Arl15 |
C |
A |
13: 114,058,902 (GRCm39) |
S56R |
possibly damaging |
Het |
| Ccdc38 |
A |
T |
10: 93,415,705 (GRCm39) |
N415Y |
probably damaging |
Het |
| Ccny |
G |
A |
18: 9,377,817 (GRCm39) |
R81C |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,006,457 (GRCm39) |
S939R |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,522,591 (GRCm39) |
T2693A |
possibly damaging |
Het |
| Fancm |
C |
T |
12: 65,173,429 (GRCm39) |
Q1914* |
probably null |
Het |
| Fcsk |
T |
C |
8: 111,609,889 (GRCm39) |
T1042A |
probably benign |
Het |
| Gm18856 |
G |
A |
13: 14,139,413 (GRCm39) |
|
probably benign |
Het |
| Gramd1a |
A |
T |
7: 30,833,434 (GRCm39) |
L610Q |
possibly damaging |
Het |
| Hsd17b4 |
C |
A |
18: 50,293,193 (GRCm39) |
|
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,787,834 (GRCm39) |
S663P |
probably benign |
Het |
| Insr |
C |
T |
8: 3,208,817 (GRCm39) |
V1215I |
probably damaging |
Het |
| Kdr |
A |
G |
5: 76,113,519 (GRCm39) |
V783A |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,640,016 (GRCm39) |
D75G |
probably damaging |
Het |
| Lrrc41 |
T |
A |
4: 115,946,519 (GRCm39) |
F411L |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,950,212 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
G |
5: 129,673,692 (GRCm39) |
H257R |
probably damaging |
Het |
| Nkiras1 |
G |
A |
14: 18,280,071 (GRCm38) |
R154Q |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,880 (GRCm39) |
I163V |
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,957 (GRCm39) |
K307R |
probably damaging |
Het |
| Or4p21 |
C |
T |
2: 88,276,839 (GRCm39) |
V148I |
probably benign |
Het |
| Or8s16 |
T |
C |
15: 98,210,660 (GRCm39) |
Y257C |
probably damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,577,625 (GRCm39) |
R60H |
probably damaging |
Het |
| Polk |
T |
C |
13: 96,620,331 (GRCm39) |
D623G |
probably benign |
Het |
| Rlf |
A |
T |
4: 121,005,303 (GRCm39) |
C1226S |
probably damaging |
Het |
| Rpa2 |
C |
T |
4: 132,499,191 (GRCm39) |
P87S |
probably benign |
Het |
| Rpa2 |
C |
T |
4: 132,499,192 (GRCm39) |
P87L |
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,682,506 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
T |
3: 72,852,545 (GRCm39) |
M529K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,460,237 (GRCm39) |
M3375T |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,934,259 (GRCm39) |
L83Q |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,939,348 (GRCm39) |
Y222* |
probably null |
Het |
| Tfap2d |
C |
T |
1: 19,189,383 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
G |
A |
9: 121,302,033 (GRCm39) |
A930T |
probably benign |
Het |
| Ugt2b34 |
G |
T |
5: 87,049,111 (GRCm39) |
H305N |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,473 (GRCm39) |
N295S |
probably benign |
Het |
|
| Other mutations in Lmntd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01761:Lmntd1
|
APN |
6 |
145,379,448 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02064:Lmntd1
|
APN |
6 |
145,373,002 (GRCm39) |
splice site |
probably null |
|
|
IGL02430:Lmntd1
|
APN |
6 |
145,359,140 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03296:Lmntd1
|
APN |
6 |
145,359,203 (GRCm39) |
missense |
probably benign |
0.23 |
|
PIT4514001:Lmntd1
|
UTSW |
6 |
145,372,979 (GRCm39) |
frame shift |
probably null |
|
|
R0022:Lmntd1
|
UTSW |
6 |
145,375,716 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0050:Lmntd1
|
UTSW |
6 |
145,363,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0084:Lmntd1
|
UTSW |
6 |
145,350,254 (GRCm39) |
missense |
unknown |
|
|
R0631:Lmntd1
|
UTSW |
6 |
145,375,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1716:Lmntd1
|
UTSW |
6 |
145,365,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Lmntd1
|
UTSW |
6 |
145,359,206 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3898:Lmntd1
|
UTSW |
6 |
145,359,152 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4411:Lmntd1
|
UTSW |
6 |
145,373,003 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5596:Lmntd1
|
UTSW |
6 |
145,359,140 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5944:Lmntd1
|
UTSW |
6 |
145,373,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6711:Lmntd1
|
UTSW |
6 |
145,489,228 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7369:Lmntd1
|
UTSW |
6 |
145,359,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7445:Lmntd1
|
UTSW |
6 |
145,375,693 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7725:Lmntd1
|
UTSW |
6 |
145,489,196 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8237:Lmntd1
|
UTSW |
6 |
145,373,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8886:Lmntd1
|
UTSW |
6 |
145,363,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:Lmntd1
|
UTSW |
6 |
145,489,229 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9046:Lmntd1
|
UTSW |
6 |
145,365,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9258:Lmntd1
|
UTSW |
6 |
145,359,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation