Incidental Mutation 'R9796:Lmntd2'
| ID |
734942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmntd2
|
| Ensembl Gene |
ENSMUSG00000025500 |
| Gene Name |
lamin tail domain containing 2 |
| Synonyms |
1600016N20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R9796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140789905-140793993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140793597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 96
(N96K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026573]
[ENSMUST00000046890]
[ENSMUST00000047093]
[ENSMUST00000070458]
[ENSMUST00000084446]
[ENSMUST00000127613]
[ENSMUST00000133763]
[ENSMUST00000170841]
[ENSMUST00000141804]
[ENSMUST00000148975]
[ENSMUST00000153081]
[ENSMUST00000209500]
[ENSMUST00000210993]
|
| AlphaFold |
Q0VET5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026573
AA Change: N96K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500
AA Change: N96K
| 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 |
possibly damaging
Transcript: ENSMUST00000170841
AA Change: N96K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500
AA Change: N96K
| 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: 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: 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 |
|
| 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: ENSMUST00000209500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210993
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
C |
T |
10: 29,101,349 (GRCm39) |
T574I |
possibly damaging |
Het |
| Aadac |
T |
G |
3: 59,945,882 (GRCm39) |
V184G |
probably damaging |
Het |
| Adam6b |
G |
A |
12: 113,454,272 (GRCm39) |
C363Y |
probably damaging |
Het |
| Adamts8 |
T |
A |
9: 30,862,569 (GRCm39) |
I258N |
probably damaging |
Het |
| Adarb2 |
C |
T |
13: 8,619,852 (GRCm39) |
L113F |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,824 (GRCm39) |
N1099S |
probably damaging |
Het |
| Alg10b |
G |
T |
15: 90,108,728 (GRCm39) |
A30S |
possibly damaging |
Het |
| Als2 |
T |
A |
1: 59,209,601 (GRCm39) |
E1460D |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,608,801 (GRCm39) |
R1515* |
probably null |
Het |
| Asxl2 |
C |
T |
12: 3,546,508 (GRCm39) |
P431S |
probably benign |
Het |
| AU018091 |
A |
T |
7: 3,213,785 (GRCm39) |
V153D |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,459,169 (GRCm39) |
V80A |
probably benign |
Het |
| Cdc16 |
G |
T |
8: 13,807,693 (GRCm39) |
|
probably benign |
Het |
| Cdk14 |
A |
G |
5: 5,316,012 (GRCm39) |
S4P |
probably benign |
Het |
| Ctu2 |
A |
T |
8: 123,202,989 (GRCm39) |
Y8F |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,342,537 (GRCm39) |
F1294L |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,817,457 (GRCm39) |
D37G |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,278 (GRCm39) |
N325I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,158,941 (GRCm39) |
M2275L |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,674,055 (GRCm39) |
K9E |
possibly damaging |
Het |
| Gm3696 |
T |
C |
14: 18,435,140 (GRCm39) |
N48S |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,538,233 (GRCm39) |
E1082G |
possibly damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,715,386 (GRCm39) |
N52K |
probably benign |
Het |
| Hrh2 |
C |
T |
13: 54,375,241 (GRCm39) |
T359I |
probably benign |
Het |
| Ifi44l |
A |
G |
3: 151,468,419 (GRCm39) |
V37A |
|
Het |
| Igfn1 |
C |
A |
1: 135,897,611 (GRCm39) |
W985L |
probably benign |
Het |
| Il22b |
A |
G |
10: 118,130,081 (GRCm39) |
S108P |
probably benign |
Het |
| Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
| Klk1 |
T |
C |
7: 43,877,965 (GRCm39) |
W74R |
possibly damaging |
Het |
| Lrch4 |
A |
G |
5: 137,635,269 (GRCm39) |
H253R |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,959,917 (GRCm39) |
D109V |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,928,291 (GRCm39) |
T1004A |
probably benign |
Het |
| Mapk10 |
A |
G |
5: 103,135,101 (GRCm39) |
V287A |
possibly damaging |
Het |
| Mtss2 |
G |
A |
8: 111,456,753 (GRCm39) |
|
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,406,497 (GRCm39) |
I116V |
possibly damaging |
Het |
| Mylk4 |
T |
A |
13: 32,900,643 (GRCm39) |
M296L |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,527,969 (GRCm39) |
F2238S |
probably damaging |
Het |
| Or11g26 |
G |
T |
14: 50,753,229 (GRCm39) |
L189F |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,522,541 (GRCm39) |
F243L |
probably damaging |
Het |
| Pcdhb22 |
G |
A |
18: 37,652,404 (GRCm39) |
E34K |
possibly damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,578,353 (GRCm39) |
F359I |
possibly damaging |
Het |
| Prkn |
A |
T |
17: 11,456,554 (GRCm39) |
D126V |
possibly damaging |
Het |
| Rnf168 |
C |
T |
16: 32,117,872 (GRCm39) |
R478C |
probably damaging |
Het |
| Sh3gl2 |
G |
A |
4: 85,295,765 (GRCm39) |
V156I |
possibly damaging |
Het |
| Taf2 |
A |
T |
15: 54,910,832 (GRCm39) |
M614K |
probably damaging |
Het |
| Tbc1d31 |
G |
A |
15: 57,833,179 (GRCm39) |
V973M |
probably damaging |
Het |
| Tmem131l |
T |
G |
3: 83,829,402 (GRCm39) |
K1085T |
probably damaging |
Het |
| Tpst1 |
A |
G |
5: 130,163,300 (GRCm39) |
T366A |
probably benign |
Het |
| Unc50 |
A |
G |
1: 37,471,679 (GRCm39) |
T110A |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,172 (GRCm39) |
H128R |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,631,828 (GRCm39) |
N2602K |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,854,505 (GRCm39) |
|
probably null |
Het |
| Vps50 |
A |
G |
6: 3,562,300 (GRCm39) |
E465G |
probably damaging |
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 |
|
IGL02806:Lmntd2
|
APN |
7 |
140,791,952 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
X0027:Lmntd2
|
UTSW |
7 |
140,790,963 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTATGGCAGAGTGTCAAGTC -3'
(R):5'- CTCCGTCAAGCAGCAGTAAG -3'
Sequencing Primer
(F):5'- CAGAGTGTCAAGTCATGCAAG -3'
(R):5'- TCAAGCAGCAGTAAGGAGGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation