Incidental Mutation 'IGL02806:Lmntd2'
| ID |
360417 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmntd2
|
| Ensembl Gene |
ENSMUSG00000025500 |
| Gene Name |
lamin tail domain containing 2 |
| Synonyms |
1600016N20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140789905-140793993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140791952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 264
(T264A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026573]
[ENSMUST00000046890]
[ENSMUST00000047093]
[ENSMUST00000070458]
[ENSMUST00000084446]
[ENSMUST00000127613]
[ENSMUST00000133763]
[ENSMUST00000170841]
[ENSMUST00000210993]
[ENSMUST00000209500]
[ENSMUST00000141804]
[ENSMUST00000153081]
[ENSMUST00000148975]
|
| AlphaFold |
Q0VET5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026573
AA Change: T254A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500
AA Change: T254A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
114 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
298 |
N/A |
INTRINSIC |
|
Pfam:LTD
|
375 |
482 |
1.3e-13 |
PFAM |
|
low complexity region
|
567 |
578 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046890
|
| SMART Domains |
Protein: ENSMUSP00000038444
Gene: ENSMUSG00000038618
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
6 |
89 |
1.67e-19 |
SMART |
|
low complexity region
|
181 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
244 |
N/A |
INTRINSIC |
|
coiled coil region
|
259 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047093
|
| SMART Domains |
Protein: ENSMUSP00000048691
Gene: ENSMUSG00000038637
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Pfam:LRR_4
|
138 |
177 |
9.1e-8 |
PFAM |
|
LRRcap
|
212 |
230 |
4.44e-1 |
SMART |
|
low complexity region
|
294 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
458 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070458
|
| SMART Domains |
Protein: ENSMUSP00000063912
Gene: ENSMUSG00000038637
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Pfam:LRR_7
|
116 |
132 |
4e-2 |
PFAM |
|
Pfam:LRR_8
|
116 |
171 |
8.7e-8 |
PFAM |
|
Pfam:LRR_4
|
117 |
158 |
7.2e-11 |
PFAM |
|
Pfam:LRR_1
|
139 |
159 |
2.9e-2 |
PFAM |
|
LRRcap
|
212 |
230 |
4.44e-1 |
SMART |
|
low complexity region
|
294 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
458 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084446
|
| SMART Domains |
Protein: ENSMUSP00000081486
Gene: ENSMUSG00000038637
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Pfam:LRR_7
|
116 |
132 |
3.5e-2 |
PFAM |
|
Pfam:LRR_8
|
116 |
171 |
6.9e-8 |
PFAM |
|
Pfam:LRR_4
|
117 |
158 |
6.7e-11 |
PFAM |
|
Pfam:LRR_6
|
136 |
160 |
5.9e-2 |
PFAM |
|
Pfam:LRR_1
|
139 |
159 |
2.6e-2 |
PFAM |
|
Pfam:LRR_6
|
157 |
182 |
4.1e-2 |
PFAM |
|
Pfam:LRR_1
|
161 |
199 |
5.9e-2 |
PFAM |
|
LRRcap
|
212 |
230 |
4.44e-1 |
SMART |
|
low complexity region
|
294 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133763
|
| SMART Domains |
Protein: ENSMUSP00000118313
Gene: ENSMUSG00000038618
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
6 |
89 |
1.67e-19 |
SMART |
|
low complexity region
|
181 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170841
AA Change: T264A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500
AA Change: T264A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
124 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
308 |
N/A |
INTRINSIC |
|
SCOP:d1ifra_
|
385 |
487 |
1e-22 |
SMART |
|
low complexity region
|
577 |
588 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210993
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149548
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141804
|
| SMART Domains |
Protein: ENSMUSP00000115948
Gene: ENSMUSG00000038618
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
6 |
89 |
1.67e-19 |
SMART |
|
low complexity region
|
181 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153081
|
| SMART Domains |
Protein: ENSMUSP00000123128
Gene: ENSMUSG00000038618
| Domain | Start | End | E-Value | Type |
|---|
|
RA
|
6 |
89 |
1.67e-19 |
SMART |
|
low complexity region
|
181 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148975
|
| SMART Domains |
Protein: ENSMUSP00000118078
Gene: ENSMUSG00000038618
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RA
|
6 |
35 |
5e-13 |
BLAST |
|
PDB:2CS4|A
|
7 |
35 |
2e-11 |
PDB |
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
G |
12: 84,088,737 (GRCm39) |
D195G |
probably damaging |
Het |
| Acsm1 |
G |
A |
7: 119,235,861 (GRCm39) |
D194N |
probably benign |
Het |
| Akr1b1 |
T |
C |
6: 34,281,254 (GRCm39) |
Y310C |
probably damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,486,414 (GRCm39) |
D168G |
probably damaging |
Het |
| Ankrd29 |
A |
C |
18: 12,408,795 (GRCm39) |
S166A |
probably benign |
Het |
| Ap1m2 |
T |
G |
9: 21,216,979 (GRCm39) |
D119A |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,681,297 (GRCm39) |
K776R |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,000,643 (GRCm39) |
D1274G |
possibly damaging |
Het |
| Cacna2d3 |
A |
C |
14: 29,073,907 (GRCm39) |
|
probably null |
Het |
| Ccdc51 |
T |
C |
9: 108,921,316 (GRCm39) |
M401T |
probably benign |
Het |
| Cchcr1 |
A |
G |
17: 35,836,153 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,797,543 (GRCm39) |
S1336P |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,409,156 (GRCm39) |
D397E |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,115,147 (GRCm39) |
H1110R |
probably damaging |
Het |
| Ephb3 |
C |
A |
16: 21,041,031 (GRCm39) |
D696E |
probably benign |
Het |
| Ermap |
T |
C |
4: 119,046,113 (GRCm39) |
K6E |
possibly damaging |
Het |
| Gm3095 |
A |
G |
14: 15,170,388 (GRCm39) |
D79G |
possibly damaging |
Het |
| Hnrnpab |
A |
G |
11: 51,496,305 (GRCm39) |
S126P |
probably benign |
Het |
| Hyou1 |
C |
A |
9: 44,300,180 (GRCm39) |
S823* |
probably null |
Het |
| Klhl31 |
T |
A |
9: 77,563,056 (GRCm39) |
V607E |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,616,065 (GRCm39) |
C209S |
possibly damaging |
Het |
| Lhx4 |
G |
A |
1: 155,577,975 (GRCm39) |
P389L |
probably benign |
Het |
| Mkx |
T |
C |
18: 6,937,025 (GRCm39) |
D302G |
probably damaging |
Het |
| Ms4a4d |
T |
C |
19: 11,533,610 (GRCm39) |
S164P |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,269,552 (GRCm39) |
E651G |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,151 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
A |
G |
2: 165,894,352 (GRCm39) |
I298V |
probably benign |
Het |
| Nek1 |
G |
A |
8: 61,497,120 (GRCm39) |
M389I |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,642,897 (GRCm39) |
D278E |
probably benign |
Het |
| Nkx2-9 |
C |
T |
12: 56,658,705 (GRCm39) |
V170M |
probably damaging |
Het |
| Or51ag1 |
T |
A |
7: 103,155,210 (GRCm39) |
K314N |
probably benign |
Het |
| Oxsr1 |
T |
C |
9: 119,070,260 (GRCm39) |
D511G |
possibly damaging |
Het |
| Pramel14 |
T |
A |
4: 143,719,501 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
T |
C |
1: 91,080,799 (GRCm39) |
L329S |
possibly damaging |
Het |
| Setd7 |
A |
T |
3: 51,457,688 (GRCm39) |
N46K |
probably damaging |
Het |
| Snx10 |
T |
A |
6: 51,565,329 (GRCm39) |
F149I |
probably damaging |
Het |
| Sult2a3 |
T |
A |
7: 13,856,857 (GRCm39) |
E21V |
probably damaging |
Het |
| Tas2r135 |
T |
C |
6: 42,383,382 (GRCm39) |
F307S |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,836,123 (GRCm39) |
|
probably benign |
Het |
| Tnfsf18 |
T |
G |
1: 161,331,348 (GRCm39) |
M166R |
possibly damaging |
Het |
| Toe1 |
C |
T |
4: 116,663,527 (GRCm39) |
V88M |
possibly damaging |
Het |
| Ttk |
T |
A |
9: 83,744,540 (GRCm39) |
C577* |
probably null |
Het |
| Ush2a |
T |
A |
1: 188,542,554 (GRCm39) |
Y3373* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,394,528 (GRCm39) |
D1543G |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,455,468 (GRCm39) |
H1154L |
probably benign |
Het |
|
| Other mutations in Lmntd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Lmntd2
|
APN |
7 |
140,793,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02444:Lmntd2
|
APN |
7 |
140,791,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB003:Lmntd2
|
UTSW |
7 |
140,790,258 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB013:Lmntd2
|
UTSW |
7 |
140,790,258 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0117:Lmntd2
|
UTSW |
7 |
140,790,036 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0279:Lmntd2
|
UTSW |
7 |
140,793,536 (GRCm39) |
unclassified |
probably benign |
|
|
R1686:Lmntd2
|
UTSW |
7 |
140,790,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Lmntd2
|
UTSW |
7 |
140,791,972 (GRCm39) |
unclassified |
probably benign |
|
|
R2324:Lmntd2
|
UTSW |
7 |
140,790,701 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3429:Lmntd2
|
UTSW |
7 |
140,793,910 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3928:Lmntd2
|
UTSW |
7 |
140,791,117 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4883:Lmntd2
|
UTSW |
7 |
140,792,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4985:Lmntd2
|
UTSW |
7 |
140,793,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5219:Lmntd2
|
UTSW |
7 |
140,791,387 (GRCm39) |
splice site |
probably null |
|
|
R7172:Lmntd2
|
UTSW |
7 |
140,793,554 (GRCm39) |
missense |
unknown |
|
|
R7475:Lmntd2
|
UTSW |
7 |
140,790,602 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7847:Lmntd2
|
UTSW |
7 |
140,790,063 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7926:Lmntd2
|
UTSW |
7 |
140,790,258 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7988:Lmntd2
|
UTSW |
7 |
140,793,550 (GRCm39) |
missense |
unknown |
|
|
R8198:Lmntd2
|
UTSW |
7 |
140,791,134 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8487:Lmntd2
|
UTSW |
7 |
140,790,427 (GRCm39) |
missense |
probably benign |
|
|
R8707:Lmntd2
|
UTSW |
7 |
140,791,234 (GRCm39) |
nonsense |
probably null |
|
|
R8814:Lmntd2
|
UTSW |
7 |
140,789,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8988:Lmntd2
|
UTSW |
7 |
140,791,977 (GRCm39) |
unclassified |
probably benign |
|
|
R9563:Lmntd2
|
UTSW |
7 |
140,790,701 (GRCm39) |
missense |
|
|
|
R9564:Lmntd2
|
UTSW |
7 |
140,790,701 (GRCm39) |
missense |
|
|
|
R9577:Lmntd2
|
UTSW |
7 |
140,790,990 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9796:Lmntd2
|
UTSW |
7 |
140,793,597 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
X0027:Lmntd2
|
UTSW |
7 |
140,790,963 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2015-12-18 |
Incidental Mutation