Incidental Mutation 'IGL02430:Lmntd1'
| ID |
293099 |
| 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 # |
IGL02430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
145311619-145560045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145359140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 191
(T191S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111706]
[ENSMUST00000111708]
[ENSMUST00000148739]
|
| AlphaFold |
Q9D4C1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111706
AA Change: T287S
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107335
Gene: ENSMUSG00000054966
AA Change: T287S
| 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: T337S
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107337
Gene: ENSMUSG00000054966
AA Change: T337S
| 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: T191S
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000120740
Gene: ENSMUSG00000054966
AA Change: T191S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap33 |
T |
C |
7: 30,222,185 (GRCm39) |
E1249G |
probably benign |
Het |
| C8a |
G |
A |
4: 104,674,719 (GRCm39) |
T540I |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,136,701 (GRCm39) |
W388L |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,822,160 (GRCm39) |
Y114* |
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,710,530 (GRCm39) |
V337A |
probably benign |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,139 (GRCm39) |
K275E |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,178 (GRCm39) |
V414A |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,815,403 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
C |
T |
17: 37,367,200 (GRCm39) |
R198* |
probably null |
Het |
| Gpaa1 |
T |
C |
15: 76,216,388 (GRCm39) |
S36P |
possibly damaging |
Het |
| Hipk1 |
A |
G |
3: 103,667,971 (GRCm39) |
V532A |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,266,469 (GRCm39) |
C217S |
probably benign |
Het |
| Ltbp2 |
T |
A |
12: 84,846,175 (GRCm39) |
Y925F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,027,797 (GRCm39) |
I871V |
probably benign |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,409 (GRCm39) |
S168P |
possibly damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,608 (GRCm39) |
I211V |
probably benign |
Het |
| Or5p70 |
A |
T |
7: 107,994,929 (GRCm39) |
I201F |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,966,096 (GRCm39) |
N754K |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,470,810 (GRCm39) |
M442K |
probably benign |
Het |
| Pole3 |
T |
C |
4: 62,443,056 (GRCm39) |
N28S |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,767,477 (GRCm39) |
Y242C |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,325,477 (GRCm39) |
K4E |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,266,735 (GRCm39) |
T774S |
probably benign |
Het |
| Selp |
C |
A |
1: 163,953,952 (GRCm39) |
P84Q |
probably damaging |
Het |
| Sh3bp4 |
T |
A |
1: 89,080,885 (GRCm39) |
W901R |
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,426,305 (GRCm39) |
Y527H |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,068,601 (GRCm39) |
|
probably null |
Het |
| Spidr |
C |
T |
16: 15,932,774 (GRCm39) |
D169N |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,630 (GRCm39) |
L183P |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,817,143 (GRCm39) |
T233I |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,856,667 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,464,634 (GRCm39) |
I231N |
probably damaging |
Het |
| Ubl3 |
A |
T |
5: 148,488,766 (GRCm39) |
D8E |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,150,295 (GRCm39) |
I465M |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,158 (GRCm39) |
I251T |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,172,085 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,238,140 (GRCm39) |
Y195H |
probably damaging |
Het |
| Wdr27 |
A |
C |
17: 15,122,062 (GRCm39) |
S615A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,792 (GRCm39) |
L114H |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,414,113 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation