Incidental Mutation 'IGL03296:Lmntd1'
ID |
416073 |
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: 0.053)
|
Stock # |
IGL03296
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
145311619-145560045 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 145359203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 316
(F316L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111706]
[ENSMUST00000111708]
[ENSMUST00000148739]
|
AlphaFold |
Q9D4C1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111706
AA Change: F266L
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107335 Gene: ENSMUSG00000054966 AA Change: F266L
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 benign
Transcript: ENSMUST00000111708
AA Change: F316L
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107337 Gene: ENSMUSG00000054966 AA Change: F316L
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 benign
Transcript: ENSMUST00000148739
AA Change: F170L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000120740 Gene: ENSMUSG00000054966 AA Change: F170L
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
T |
C |
17: 43,632,044 (GRCm39) |
|
probably benign |
Het |
Arhgef26 |
A |
G |
3: 62,330,926 (GRCm39) |
T547A |
probably damaging |
Het |
Cdc14a |
T |
A |
3: 116,090,807 (GRCm39) |
H375L |
probably benign |
Het |
Ddx43 |
T |
C |
9: 78,306,380 (GRCm39) |
|
probably null |
Het |
Dennd6a |
T |
C |
14: 26,338,115 (GRCm39) |
|
probably null |
Het |
Dock4 |
A |
T |
12: 40,783,256 (GRCm39) |
E730V |
possibly damaging |
Het |
Gpr55 |
A |
G |
1: 85,868,753 (GRCm39) |
L276S |
probably damaging |
Het |
Grid1 |
T |
C |
14: 35,302,524 (GRCm39) |
F930L |
possibly damaging |
Het |
Inf2 |
C |
T |
12: 112,570,642 (GRCm39) |
Q394* |
probably null |
Het |
Ints11 |
T |
C |
4: 155,969,780 (GRCm39) |
|
probably null |
Het |
Kcnd2 |
T |
C |
6: 21,714,208 (GRCm39) |
V397A |
probably damaging |
Het |
Loxl4 |
A |
T |
19: 42,587,262 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mindy4 |
T |
C |
6: 55,274,738 (GRCm39) |
|
probably null |
Het |
Mybpc2 |
A |
T |
7: 44,156,308 (GRCm39) |
I835N |
probably damaging |
Het |
Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
Nfkb2 |
A |
T |
19: 46,298,367 (GRCm39) |
D557V |
probably damaging |
Het |
Or11g27 |
A |
T |
14: 50,771,402 (GRCm39) |
I178L |
possibly damaging |
Het |
Pdk3 |
T |
C |
X: 92,875,503 (GRCm39) |
Y19C |
probably damaging |
Het |
Pdpr |
G |
T |
8: 111,841,430 (GRCm39) |
V221F |
probably damaging |
Het |
Rab6a |
T |
C |
7: 100,283,931 (GRCm39) |
Y128H |
probably benign |
Het |
Rars1 |
A |
T |
11: 35,707,523 (GRCm39) |
Y429* |
probably null |
Het |
Rsl24d1 |
T |
C |
9: 73,025,229 (GRCm39) |
|
probably null |
Het |
Slc7a9 |
T |
C |
7: 35,151,852 (GRCm39) |
F49S |
probably damaging |
Het |
St14 |
C |
T |
9: 31,020,008 (GRCm39) |
E34K |
probably damaging |
Het |
Tcp10b |
A |
G |
17: 13,292,443 (GRCm39) |
T289A |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,942,852 (GRCm39) |
|
probably null |
Het |
Tshz3 |
A |
T |
7: 36,470,761 (GRCm39) |
T917S |
probably damaging |
Het |
Vrtn |
T |
A |
12: 84,695,622 (GRCm39) |
I124N |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,420,540 (GRCm39) |
E1747G |
probably damaging |
Het |
Wdr33 |
A |
T |
18: 31,960,444 (GRCm39) |
Q36L |
probably benign |
Het |
Xpo5 |
C |
T |
17: 46,532,320 (GRCm39) |
R452* |
probably null |
Het |
Zdhhc8 |
A |
T |
16: 18,044,587 (GRCm39) |
L311Q |
possibly damaging |
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 |
IGL01986:Lmntd1
|
APN |
6 |
145,365,533 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |