Incidental Mutation 'R4985:Lmntd2'
| ID |
385825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmntd2
|
| Ensembl Gene |
ENSMUSG00000025500 |
| Gene Name |
lamin tail domain containing 2 |
| Synonyms |
1600016N20Rik |
| MMRRC Submission |
042579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4985 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140789905-140793993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 140793190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 127
(S127R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026573]
[ENSMUST00000046890]
[ENSMUST00000047093]
[ENSMUST00000070458]
[ENSMUST00000084446]
[ENSMUST00000127613]
[ENSMUST00000133763]
[ENSMUST00000170841]
[ENSMUST00000210993]
[ENSMUST00000209500]
[ENSMUST00000148975]
[ENSMUST00000153081]
[ENSMUST00000141804]
|
| AlphaFold |
Q0VET5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026573
AA Change: S117R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500
AA Change: S117R
| 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: S127R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500
AA Change: S127R
| 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 |
noncoding transcript
Transcript: ENSMUST00000149548
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210993
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209760
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0669 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921508M14Rik |
A |
T |
12: 34,924,457 (GRCm39) |
|
probably benign |
Het |
| Actn4 |
A |
G |
7: 28,618,411 (GRCm39) |
L83P |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,276,376 (GRCm39) |
R331G |
possibly damaging |
Het |
| Bmal1 |
T |
C |
7: 112,884,280 (GRCm39) |
V106A |
probably damaging |
Het |
| Brf1 |
G |
T |
12: 112,932,990 (GRCm39) |
|
probably null |
Het |
| Cd248 |
C |
T |
19: 5,119,820 (GRCm39) |
T556I |
probably damaging |
Het |
| Cdkn2aip |
G |
T |
8: 48,166,480 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,901,772 (GRCm39) |
E399G |
possibly damaging |
Het |
| Col9a3 |
G |
A |
2: 180,245,193 (GRCm39) |
R134H |
unknown |
Het |
| Ddb2 |
T |
C |
2: 91,042,643 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
A |
G |
16: 31,606,953 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
T |
G |
14: 31,008,855 (GRCm39) |
E1973A |
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,691,017 (GRCm39) |
T284A |
probably benign |
Het |
| Ecm1 |
C |
T |
3: 95,643,415 (GRCm39) |
R295H |
possibly damaging |
Het |
| Efcab5 |
T |
A |
11: 77,029,055 (GRCm39) |
H92L |
probably damaging |
Het |
| Egfr |
C |
A |
11: 16,809,029 (GRCm39) |
Y74* |
probably null |
Het |
| Fbxo10 |
T |
C |
4: 45,040,692 (GRCm39) |
I838V |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,454,643 (GRCm39) |
R79Q |
probably damaging |
Het |
| Gm11568 |
C |
A |
11: 99,749,274 (GRCm39) |
P160T |
unknown |
Het |
| Gm29106 |
A |
T |
1: 118,126,950 (GRCm39) |
D214V |
probably benign |
Het |
| Htr3b |
C |
A |
9: 48,847,241 (GRCm39) |
V425F |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,375,146 (GRCm39) |
E347V |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,012,551 (GRCm39) |
I708V |
probably benign |
Het |
| Ldb2 |
T |
A |
5: 44,637,645 (GRCm39) |
K221I |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,234,743 (GRCm39) |
|
probably null |
Het |
| Mettl26 |
T |
A |
17: 26,095,750 (GRCm39) |
*202R |
probably null |
Het |
| Mmp24 |
A |
G |
2: 155,656,016 (GRCm39) |
K485E |
probably damaging |
Het |
| Nap1l1 |
T |
C |
10: 111,325,944 (GRCm39) |
C88R |
probably benign |
Het |
| Or2d2 |
C |
A |
7: 106,728,234 (GRCm39) |
R122L |
probably damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,658 (GRCm39) |
I47N |
possibly damaging |
Het |
| Pafah1b1 |
T |
G |
11: 74,576,814 (GRCm39) |
D159A |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,698 (GRCm39) |
V235A |
probably benign |
Het |
| Pcf11 |
T |
C |
7: 92,311,110 (GRCm39) |
T293A |
probably benign |
Het |
| Pidd1 |
A |
C |
7: 141,018,504 (GRCm39) |
*916E |
probably null |
Het |
| Pip4k2c |
T |
C |
10: 127,035,244 (GRCm39) |
I375V |
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,588 (GRCm39) |
S182T |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,334,821 (GRCm39) |
D164V |
unknown |
Het |
| Rnf8 |
T |
C |
17: 29,845,834 (GRCm39) |
S199P |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,195 (GRCm39) |
S185P |
probably benign |
Het |
| Slc47a2 |
C |
A |
11: 61,193,059 (GRCm39) |
V565L |
probably benign |
Het |
| Slfn4 |
T |
A |
11: 83,078,033 (GRCm39) |
F274I |
probably damaging |
Het |
| Tgif1 |
T |
C |
17: 71,151,867 (GRCm39) |
Y248C |
probably benign |
Het |
| Tlx1 |
C |
A |
19: 45,139,421 (GRCm39) |
Q23K |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Tspyl1 |
G |
A |
10: 34,158,334 (GRCm39) |
D20N |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,959 (GRCm39) |
F24L |
probably damaging |
Het |
| Vmn1r204 |
T |
A |
13: 22,741,230 (GRCm39) |
V287D |
probably damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,340,228 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
T |
G |
8: 123,994,646 (GRCm39) |
V571G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTGTTTCTCCTGATGAGG -3'
(R):5'- GTGCTGGAAATGTCATCCTACTC -3'
Sequencing Primer
(F):5'- CCTGATGAGGAATTTCTGCCAG -3'
(R):5'- GGAAATGTCATCCTACTCCCTAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation