Incidental Mutation 'R5596:Lmntd1'
ID |
437830 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmntd1
|
Ensembl Gene |
ENSMUSG00000054966 |
Gene Name |
lamin tail domain containing 1 |
Synonyms |
4933403M22Rik, Ifltd1, Lmna-rs1 |
MMRRC Submission |
043148-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R5596 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.9%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
G |
7: 120,000,972 (GRCm39) |
M1503V |
possibly damaging |
Het |
Abraxas1 |
A |
T |
5: 100,966,403 (GRCm39) |
V53D |
probably damaging |
Het |
Bub1b |
T |
C |
2: 118,461,463 (GRCm39) |
S672P |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
Cacng7 |
A |
T |
7: 3,415,420 (GRCm39) |
I262F |
probably benign |
Het |
Capzb |
T |
G |
4: 139,006,738 (GRCm39) |
|
probably benign |
Het |
Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,676,020 (GRCm39) |
L225P |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,268,095 (GRCm39) |
T685A |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,611,041 (GRCm39) |
T177M |
probably damaging |
Het |
Creb3l3 |
T |
G |
10: 80,920,881 (GRCm39) |
D383A |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,395,578 (GRCm39) |
I16F |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,343,754 (GRCm39) |
A2385S |
probably damaging |
Het |
Enox1 |
A |
G |
14: 77,816,493 (GRCm39) |
I158V |
probably benign |
Het |
Erich3 |
A |
T |
3: 154,433,033 (GRCm39) |
T139S |
probably damaging |
Het |
Fam186b |
A |
T |
15: 99,169,170 (GRCm39) |
S926T |
possibly damaging |
Het |
Gjd2 |
C |
A |
2: 113,841,965 (GRCm39) |
V171F |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,879,082 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
TTN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Het |
Impg1 |
A |
T |
9: 80,252,500 (GRCm39) |
V483E |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,415,799 (GRCm39) |
N196S |
probably damaging |
Het |
Kcnip1 |
T |
C |
11: 33,580,597 (GRCm39) |
D213G |
probably damaging |
Het |
Med12l |
T |
A |
3: 59,159,771 (GRCm39) |
N1273K |
probably benign |
Het |
Musk |
T |
C |
4: 58,373,036 (GRCm39) |
C654R |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,115,951 (GRCm39) |
S274T |
noncoding transcript |
Het |
Omd |
A |
G |
13: 49,745,814 (GRCm39) |
H408R |
probably benign |
Het |
Pbld2 |
C |
T |
10: 62,907,791 (GRCm39) |
A219V |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
Pramel32 |
C |
T |
4: 88,548,292 (GRCm39) |
E38K |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,816,683 (GRCm39) |
I246T |
probably damaging |
Het |
Sap18b |
G |
T |
8: 96,551,998 (GRCm39) |
A3S |
unknown |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Sstr4 |
G |
T |
2: 148,237,652 (GRCm39) |
V88F |
possibly damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tmcc2 |
T |
C |
1: 132,288,221 (GRCm39) |
N489D |
probably damaging |
Het |
Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
Tnxb |
T |
A |
17: 34,907,778 (GRCm39) |
V1274E |
probably damaging |
Het |
Ube3b |
T |
A |
5: 114,544,221 (GRCm39) |
|
probably null |
Het |
Vwa5a |
A |
T |
9: 38,633,874 (GRCm39) |
I26F |
probably 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGAGGCAGAGCATTCATTG -3'
(R):5'- TGAGAACTCTCTCCATTCCTATTAGG -3'
Sequencing Primer
(F):5'- GCGTCCCAAGCATTTACTTAAAGAG -3'
(R):5'- TCCATTCCTATTAGGCCATTGC -3'
|
Posted On |
2016-10-26 |