Incidental Mutation 'R7847:Lmntd2'
| ID |
606685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmntd2
|
| Ensembl Gene |
ENSMUSG00000025500 |
| Gene Name |
lamin tail domain containing 2 |
| Synonyms |
1600016N20Rik |
| MMRRC Submission |
045901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R7847 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140789905-140793993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140790063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 650
(N650D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026573]
[ENSMUST00000047093]
[ENSMUST00000070458]
[ENSMUST00000084446]
[ENSMUST00000170841]
[ENSMUST00000209220]
|
| AlphaFold |
Q0VET5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026573
AA Change: N640D
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500
AA Change: N640D
| 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: 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: ENSMUST00000170841
AA Change: N650D
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500
AA Change: N650D
| 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: ENSMUST00000209220
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
A |
17: 35,879,549 (GRCm39) |
Y296N |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,864,892 (GRCm39) |
E378G |
probably damaging |
Het |
| Acp2 |
C |
T |
2: 91,041,077 (GRCm39) |
H422Y |
possibly damaging |
Het |
| Aldoart1 |
C |
T |
4: 72,770,193 (GRCm39) |
C205Y |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,700,905 (GRCm39) |
L225S |
possibly damaging |
Het |
| Anapc1 |
A |
C |
2: 128,511,828 (GRCm39) |
V455G |
possibly damaging |
Het |
| Arhgef5 |
C |
A |
6: 43,252,069 (GRCm39) |
S940* |
probably null |
Het |
| Asb15 |
C |
A |
6: 24,564,266 (GRCm39) |
A240E |
probably damaging |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Ccdc17 |
A |
G |
4: 116,457,103 (GRCm39) |
E529G |
probably benign |
Het |
| Cyp2b10 |
T |
C |
7: 25,597,185 (GRCm39) |
S26P |
possibly damaging |
Het |
| Dcp1b |
T |
C |
6: 119,192,256 (GRCm39) |
S391P |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,712,503 (GRCm39) |
L2086Q |
unknown |
Het |
| Ephx1 |
A |
G |
1: 180,829,426 (GRCm39) |
S41P |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,407,058 (GRCm39) |
T1034M |
probably damaging |
Het |
| Gm17334 |
T |
A |
11: 53,663,564 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,752,282 (GRCm39) |
H3227R |
probably damaging |
Het |
| Grin2c |
G |
A |
11: 115,151,804 (GRCm39) |
P52L |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,308 (GRCm39) |
|
probably null |
Het |
| Il17rb |
A |
G |
14: 29,718,763 (GRCm39) |
Y440H |
probably damaging |
Het |
| Kcng4 |
A |
G |
8: 120,352,881 (GRCm39) |
L343P |
probably damaging |
Het |
| Knl1 |
G |
A |
2: 118,901,457 (GRCm39) |
E1053K |
probably benign |
Het |
| Lipo4 |
A |
T |
19: 33,491,599 (GRCm39) |
V128E |
possibly damaging |
Het |
| Lrrfip2 |
T |
C |
9: 111,042,948 (GRCm39) |
L460P |
probably damaging |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,651,328 (GRCm39) |
Q1379R |
probably damaging |
Het |
| Mtfr2 |
G |
A |
10: 20,233,198 (GRCm39) |
A256T |
probably benign |
Het |
| Mup17 |
T |
A |
4: 61,511,456 (GRCm39) |
H159L |
probably benign |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,058,430 (GRCm39) |
M610V |
probably benign |
Het |
| Or10ak14 |
G |
T |
4: 118,611,565 (GRCm39) |
H59N |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,730 (GRCm39) |
S19T |
probably benign |
Het |
| Or8g35 |
A |
G |
9: 39,381,801 (GRCm39) |
S74P |
probably benign |
Het |
| Pard3b |
A |
G |
1: 62,383,093 (GRCm39) |
D729G |
probably benign |
Het |
| Phactr1 |
T |
C |
13: 43,210,664 (GRCm39) |
L169P |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,612,655 (GRCm39) |
S762R |
probably damaging |
Het |
| Senp5 |
C |
T |
16: 31,808,991 (GRCm39) |
V88I |
probably benign |
Het |
| Specc1l |
T |
C |
10: 75,145,670 (GRCm39) |
V1105A |
probably damaging |
Het |
| Trak2 |
A |
C |
1: 58,974,977 (GRCm39) |
S72A |
possibly damaging |
Het |
| Ttyh2 |
T |
C |
11: 114,566,500 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,163,005 (GRCm39) |
C1029Y |
probably damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,568,063 (GRCm39) |
Y62C |
probably damaging |
Het |
| Vmn2r41 |
A |
G |
7: 8,164,547 (GRCm39) |
F2L |
probably benign |
Het |
| Xirp1 |
G |
T |
9: 119,848,819 (GRCm39) |
D21E |
possibly damaging |
Het |
| Zfp114 |
C |
A |
7: 23,880,460 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Zfp341 |
T |
C |
2: 154,476,114 (GRCm39) |
S441P |
probably damaging |
Het |
| Zfp780b |
A |
C |
7: 27,663,843 (GRCm39) |
H237Q |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCCTTTCTGTTGGGACACC -3'
(R):5'- CAGACTGTGTCTTGGTGAGGAC -3'
Sequencing Primer
(F):5'- GCGAATCATTTTCAACTCTCAGG -3'
(R):5'- CTCACTGGGTAGGCAGGAGTAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation