Incidental Mutation 'BB013:Lmntd2'
| ID |
642755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmntd2
|
| Ensembl Gene |
ENSMUSG00000025500 |
| Gene Name |
lamin tail domain containing 2 |
| Synonyms |
1600016N20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
BB013
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140789905-140793993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 140790258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 610
(P610Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026573]
[ENSMUST00000047093]
[ENSMUST00000070458]
[ENSMUST00000084446]
[ENSMUST00000170841]
[ENSMUST00000209220]
|
| AlphaFold |
Q0VET5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026573
AA Change: P600Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500
AA Change: P600Q
| 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 damaging
Transcript: ENSMUST00000170841
AA Change: P610Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500
AA Change: P610Q
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| BC016579 |
C |
A |
16: 45,449,825 (GRCm39) |
D198Y |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,588,979 (GRCm39) |
S549P |
probably damaging |
Het |
| Cnih3 |
T |
C |
1: 181,277,566 (GRCm39) |
L96P |
probably damaging |
Het |
| Cnn2 |
T |
A |
10: 79,829,160 (GRCm39) |
L168Q |
probably damaging |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
A |
G |
9: 114,446,883 (GRCm39) |
C398R |
probably damaging |
Het |
| Dcaf4 |
C |
A |
12: 83,580,703 (GRCm39) |
Y212* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,335,326 (GRCm39) |
T665A |
probably benign |
Het |
| Dnmt1 |
C |
A |
9: 20,818,855 (GRCm39) |
A1609S |
unknown |
Het |
| Dzip1 |
T |
C |
14: 119,120,911 (GRCm39) |
D682G |
probably benign |
Het |
| Fam76a |
A |
G |
4: 132,629,405 (GRCm39) |
L249P |
probably damaging |
Het |
| Fgf10 |
T |
C |
13: 118,925,752 (GRCm39) |
M177T |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Itln1 |
G |
A |
1: 171,359,261 (GRCm39) |
T73I |
probably benign |
Het |
| Jkamp |
T |
C |
12: 72,141,590 (GRCm39) |
Y197H |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lcor |
T |
C |
19: 41,571,008 (GRCm39) |
F67S |
probably benign |
Het |
| Lmf2 |
G |
A |
15: 89,236,624 (GRCm39) |
P514L |
probably damaging |
Het |
| Map3k3 |
T |
C |
11: 106,036,548 (GRCm39) |
S225P |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,146,335 (GRCm39) |
Y182H |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,298,869 (GRCm39) |
V2055A |
possibly damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Myh8 |
C |
T |
11: 67,169,732 (GRCm39) |
P17L |
possibly damaging |
Het |
| Myt1l |
T |
A |
12: 29,861,651 (GRCm39) |
D144E |
unknown |
Het |
| Nfatc1 |
T |
C |
18: 80,740,881 (GRCm39) |
Y373C |
probably damaging |
Het |
| Pacs2 |
C |
T |
12: 113,024,372 (GRCm39) |
L418F |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,996,207 (GRCm39) |
I24T |
unknown |
Het |
| Pdcl |
C |
T |
2: 37,242,249 (GRCm39) |
G167E |
probably damaging |
Het |
| Pdcl |
A |
C |
2: 37,242,251 (GRCm39) |
S166R |
probably damaging |
Het |
| Qsox1 |
C |
T |
1: 155,688,533 (GRCm39) |
G5S |
unknown |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Sass6 |
T |
A |
3: 116,422,419 (GRCm39) |
S641T |
possibly damaging |
Het |
| Six1 |
T |
C |
12: 73,090,583 (GRCm39) |
N194S |
probably benign |
Het |
| Tagap |
T |
C |
17: 8,145,770 (GRCm39) |
|
probably null |
Het |
| Tiparp |
T |
C |
3: 65,460,946 (GRCm39) |
V645A |
possibly damaging |
Het |
| Tm2d2 |
T |
C |
8: 25,510,480 (GRCm39) |
V113A |
probably damaging |
Het |
| Tmprss6 |
C |
A |
15: 78,337,050 (GRCm39) |
R352L |
probably benign |
Het |
| Tslp |
A |
G |
18: 32,950,246 (GRCm39) |
E105G |
possibly damaging |
Het |
| Ttc41 |
A |
G |
10: 86,611,911 (GRCm39) |
E1093G |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,797 (GRCm39) |
R2686H |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,627,036 (GRCm39) |
Y541N |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,702,988 (GRCm39) |
D122G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGTTCTGGACTGACAGG -3'
(R):5'- TTTCCCATATCTCCAGGCCAGG -3'
Sequencing Primer
(F):5'- TTCTGGACTGACAGGGCCAC -3'
(R):5'- ATATCTCCAGGCCAGGTGTTCG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation