Incidental Mutation 'PIT4514001:Lmntd1'
| ID |
556268 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4514001 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145311619-145560045 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AGACTGTAAGTTTCTCAAATGTGTACCTGGA to AGA
at 145372979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111706]
[ENSMUST00000111708]
[ENSMUST00000148739]
[ENSMUST00000149666]
|
| AlphaFold |
Q9D4C1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111706
|
| SMART Domains |
Protein: ENSMUSP00000107335
Gene: ENSMUSG00000054966
| 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 null
Transcript: ENSMUST00000111708
|
| SMART Domains |
Protein: ENSMUSP00000107337
Gene: ENSMUSG00000054966
| 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
|
| SMART Domains |
Protein: ENSMUSP00000120740
Gene: ENSMUSG00000054966
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149666
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.6%
- 10x: 84.2%
- 20x: 70.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
G |
13: 61,001,328 (GRCm39) |
|
probably null |
Het |
| Aadacl4fm2 |
T |
C |
4: 144,282,081 (GRCm39) |
Y237C |
probably damaging |
Het |
| Abcc10 |
T |
A |
17: 46,616,574 (GRCm39) |
I1247F |
probably benign |
Het |
| Acap3 |
G |
A |
4: 155,987,835 (GRCm39) |
A524T |
probably benign |
Het |
| Adcy10 |
T |
A |
1: 165,384,360 (GRCm39) |
N1040K |
probably benign |
Het |
| Adrb2 |
T |
C |
18: 62,312,798 (GRCm39) |
D9G |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,679,604 (GRCm39) |
T391A |
probably benign |
Het |
| Bcam |
A |
G |
7: 19,497,991 (GRCm39) |
V344A |
probably benign |
Het |
| Birc7 |
T |
A |
2: 180,573,099 (GRCm39) |
I172N |
possibly damaging |
Het |
| Cfap126 |
G |
A |
1: 170,952,881 (GRCm39) |
D45N |
probably damaging |
Het |
| Cfap299 |
T |
A |
5: 98,949,730 (GRCm39) |
H221Q |
probably benign |
Het |
| Cit |
G |
A |
5: 116,135,913 (GRCm39) |
|
probably null |
Het |
| Col26a1 |
A |
G |
5: 136,780,579 (GRCm39) |
V295A |
probably benign |
Het |
| Efcab15 |
T |
C |
11: 103,091,960 (GRCm39) |
D27G |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,961,355 (GRCm39) |
Q867* |
probably null |
Het |
| Fn1 |
A |
G |
1: 71,667,615 (GRCm39) |
S793P |
probably benign |
Het |
| Foxb1 |
T |
A |
9: 69,667,503 (GRCm39) |
Y9F |
probably damaging |
Het |
| Gpc1 |
T |
A |
1: 92,785,279 (GRCm39) |
M406K |
probably benign |
Het |
| Gsg1 |
T |
C |
6: 135,214,574 (GRCm39) |
T312A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,545,238 (GRCm39) |
I2790F |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Mcph1 |
A |
G |
8: 18,681,906 (GRCm39) |
K348E |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,082,758 (GRCm39) |
N71K |
probably damaging |
Het |
| Or8d4 |
T |
C |
9: 40,038,595 (GRCm39) |
I221V |
probably damaging |
Het |
| Pik3cg |
T |
A |
12: 32,254,902 (GRCm39) |
R362W |
probably damaging |
Het |
| Pkp3 |
T |
C |
7: 140,669,623 (GRCm39) |
L765P |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,477,245 (GRCm39) |
I1252F |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,387,181 (GRCm39) |
F1154S |
possibly damaging |
Het |
| Scn7a |
A |
G |
2: 66,514,523 (GRCm39) |
F1084L |
probably damaging |
Het |
| Shmt1 |
G |
A |
11: 60,695,173 (GRCm39) |
S47L |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,761,486 (GRCm39) |
K40R |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,920,527 (GRCm39) |
T421S |
possibly damaging |
Het |
| Speer4f1 |
T |
A |
5: 17,683,754 (GRCm39) |
N139K |
possibly damaging |
Het |
| Syne2 |
T |
G |
12: 76,151,789 (GRCm39) |
N1883K |
probably damaging |
Het |
| Tgfb1i1 |
C |
T |
7: 127,848,353 (GRCm39) |
R191C |
probably damaging |
Het |
| Tmem39b |
A |
C |
4: 129,578,290 (GRCm39) |
N310K |
possibly damaging |
Het |
| Trim3 |
T |
C |
7: 105,267,417 (GRCm39) |
T321A |
probably benign |
Het |
| Vmn2r124 |
T |
C |
17: 18,293,974 (GRCm39) |
I687T |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,251,523 (GRCm39) |
D316G |
probably benign |
Het |
| Zfp639 |
A |
G |
3: 32,574,409 (GRCm39) |
I345V |
possibly damaging |
Het |
| Zfp764 |
T |
C |
7: 127,003,913 (GRCm39) |
H406R |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGTTTGCTCCTCTGGAAAC -3'
(R):5'- TAAAAGGCACCAGCTCCATGG -3'
Sequencing Primer
(F):5'- GCTCCTCTGGAAACTTCTATCAG -3'
(R):5'- AGTCGAGCTCTGACGTGGATAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation