Incidental Mutation 'R1556:L3mbtl2'
| ID |
170300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L3mbtl2
|
| Ensembl Gene |
ENSMUSG00000022394 |
| Gene Name |
L3MBTL2 polycomb repressive complex 1 subunit |
| Synonyms |
4732493N06Rik, m4mbt |
| MMRRC Submission |
039595-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81548090-81572516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81566203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 342
(M342K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023029]
[ENSMUST00000072910]
[ENSMUST00000172568]
[ENSMUST00000172748]
[ENSMUST00000173598]
[ENSMUST00000174229]
|
| AlphaFold |
P59178 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023029
AA Change: M342K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000023029
Gene: ENSMUSG00000022394
AA Change: M342K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
|
PDB:2W0T|A
|
82 |
110 |
6e-14 |
PDB |
|
low complexity region
|
111 |
126 |
N/A |
INTRINSIC |
|
MBT
|
179 |
283 |
3.8e-26 |
SMART |
|
MBT
|
291 |
391 |
9.68e-42 |
SMART |
|
MBT
|
402 |
500 |
6.87e-24 |
SMART |
|
MBT
|
508 |
604 |
2.57e-55 |
SMART |
|
low complexity region
|
613 |
632 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072910
|
| SMART Domains |
Protein: ENSMUSP00000072682
Gene: ENSMUSG00000063765
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
20 |
N/A |
INTRINSIC |
|
LRRNT
|
31 |
65 |
3.72e-4 |
SMART |
|
LRR
|
59 |
83 |
1e1 |
SMART |
|
LRR_TYP
|
84 |
107 |
7.78e-3 |
SMART |
|
LRR_TYP
|
108 |
131 |
5.81e-2 |
SMART |
|
LRR_TYP
|
132 |
155 |
3.89e-3 |
SMART |
|
LRR_TYP
|
156 |
179 |
6.42e-4 |
SMART |
|
LRR
|
180 |
203 |
1.37e1 |
SMART |
|
LRR_TYP
|
204 |
227 |
5.5e-3 |
SMART |
|
LRR
|
252 |
275 |
3.24e0 |
SMART |
|
LRR
|
276 |
299 |
2.92e1 |
SMART |
|
LRRCT
|
309 |
357 |
3.81e-2 |
SMART |
|
low complexity region
|
358 |
372 |
N/A |
INTRINSIC |
|
LRRNT
|
394 |
428 |
1.51e-4 |
SMART |
|
LRR
|
427 |
446 |
1.26e2 |
SMART |
|
LRR
|
447 |
470 |
3.97e0 |
SMART |
|
LRR
|
471 |
494 |
1.08e-1 |
SMART |
|
LRR
|
496 |
518 |
6.23e1 |
SMART |
|
LRR
|
519 |
542 |
9.48e0 |
SMART |
|
LRR
|
544 |
566 |
6.96e0 |
SMART |
|
LRR
|
568 |
590 |
1.14e0 |
SMART |
|
LRR_TYP
|
591 |
614 |
7.09e-6 |
SMART |
|
LRR
|
617 |
639 |
3.76e1 |
SMART |
|
LRR
|
640 |
665 |
6.59e1 |
SMART |
|
LRRCT
|
674 |
722 |
2.87e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172568
AA Change: M342K
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172748
AA Change: M342K
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394
AA Change: M342K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
|
PDB:2W0T|A
|
82 |
110 |
1e-13 |
PDB |
|
low complexity region
|
111 |
126 |
N/A |
INTRINSIC |
|
MBT
|
179 |
283 |
3.8e-26 |
SMART |
|
MBT
|
291 |
391 |
9.68e-42 |
SMART |
|
MBT
|
402 |
500 |
6.87e-24 |
SMART |
|
MBT
|
508 |
604 |
2.57e-55 |
SMART |
|
low complexity region
|
613 |
632 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173598
|
| SMART Domains |
Protein: ENSMUSP00000133834
Gene: ENSMUSG00000063765
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
5 |
28 |
1.08e-1 |
SMART |
|
LRR
|
30 |
52 |
6.23e1 |
SMART |
|
LRR
|
53 |
76 |
9.48e0 |
SMART |
|
LRR
|
78 |
100 |
6.96e0 |
SMART |
|
LRR
|
102 |
124 |
1.14e0 |
SMART |
|
LRR_TYP
|
125 |
148 |
7.09e-6 |
SMART |
|
LRR
|
151 |
173 |
3.76e1 |
SMART |
|
LRR
|
174 |
199 |
6.59e1 |
SMART |
|
LRRCT
|
208 |
256 |
2.87e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174229
AA Change: M342K
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133967
Gene: ENSMUSG00000022394
AA Change: M342K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
|
PDB:2W0T|A
|
82 |
110 |
8e-14 |
PDB |
|
low complexity region
|
111 |
126 |
N/A |
INTRINSIC |
|
MBT
|
179 |
283 |
3.8e-26 |
SMART |
|
MBT
|
291 |
391 |
9.68e-42 |
SMART |
|
MBT
|
402 |
500 |
6.87e-24 |
SMART |
|
MBT
|
508 |
604 |
2.57e-55 |
SMART |
|
low complexity region
|
613 |
632 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174497
|
| SMART Domains |
Protein: ENSMUSP00000133549
Gene: ENSMUSG00000022394
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBT
|
12 |
85 |
1.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173898
|
| SMART Domains |
Protein: ENSMUSP00000133981
Gene: ENSMUSG00000063765
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
21 |
40 |
1.26e2 |
SMART |
|
LRR
|
41 |
64 |
3.97e0 |
SMART |
|
LRR
|
65 |
88 |
1.08e-1 |
SMART |
|
LRR
|
90 |
112 |
6.23e1 |
SMART |
|
LRR
|
113 |
136 |
9.48e0 |
SMART |
|
LRR
|
138 |
160 |
6.96e0 |
SMART |
|
LRR
|
162 |
184 |
1.14e0 |
SMART |
|
LRR_TYP
|
185 |
208 |
7.09e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit failure of the inner cell mass to form a normal primitive ectoderm capable of gastrulation leading to abnormal embryo development, embryonic growth arrest, and lethality during organogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,203,477 (GRCm39) |
S302P |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,466,819 (GRCm39) |
T1626A |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Arid5a |
T |
A |
1: 36,359,245 (GRCm39) |
Y520* |
probably null |
Het |
| Aven |
G |
A |
2: 112,461,230 (GRCm39) |
M215I |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,877,837 (GRCm39) |
D58G |
probably damaging |
Het |
| Ccdc146 |
A |
G |
5: 21,535,551 (GRCm39) |
Y168H |
probably damaging |
Het |
| Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
| Cd68 |
T |
A |
11: 69,556,676 (GRCm39) |
T44S |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,338,558 (GRCm39) |
I867N |
probably benign |
Het |
| Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,586,672 (GRCm39) |
V1783A |
possibly damaging |
Het |
| Dach2 |
T |
C |
X: 112,208,214 (GRCm39) |
S31P |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,958,761 (GRCm39) |
W279R |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,890,921 (GRCm39) |
I2817F |
possibly damaging |
Het |
| Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
| Gdf7 |
T |
C |
12: 8,351,698 (GRCm39) |
N79S |
unknown |
Het |
| Gpam |
A |
G |
19: 55,064,763 (GRCm39) |
V647A |
possibly damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,994,776 (GRCm39) |
T497A |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,525,579 (GRCm39) |
F337L |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| H2-Aa |
A |
T |
17: 34,503,390 (GRCm39) |
V69D |
possibly damaging |
Het |
| H2-M10.5 |
T |
C |
17: 37,084,205 (GRCm39) |
Y56H |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,351,219 (GRCm39) |
|
probably null |
Het |
| Krt77 |
A |
G |
15: 101,769,713 (GRCm39) |
S386P |
probably damaging |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,010 (GRCm39) |
T186A |
probably benign |
Het |
| Lins1 |
C |
A |
7: 66,360,385 (GRCm39) |
C168* |
probably null |
Het |
| Lrrtm3 |
G |
A |
10: 63,923,928 (GRCm39) |
T413M |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,348,813 (GRCm39) |
D4038G |
probably damaging |
Het |
| Mark3 |
T |
G |
12: 111,594,275 (GRCm39) |
N308K |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,597,367 (GRCm39) |
Y709F |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
| Or1p1 |
T |
A |
11: 74,179,762 (GRCm39) |
C97S |
probably damaging |
Het |
| Or4k15c |
G |
A |
14: 50,321,916 (GRCm39) |
A74V |
possibly damaging |
Het |
| Or51a24 |
T |
A |
7: 103,733,468 (GRCm39) |
H273L |
probably benign |
Het |
| Or6c76 |
T |
C |
10: 129,612,242 (GRCm39) |
V168A |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,894,068 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,015,836 (GRCm39) |
T408A |
probably damaging |
Het |
| Pcdh8 |
T |
G |
14: 80,007,843 (GRCm39) |
D240A |
probably damaging |
Het |
| Pcyt2 |
T |
C |
11: 120,502,911 (GRCm39) |
|
probably null |
Het |
| Pecr |
T |
A |
1: 72,298,542 (GRCm39) |
I293L |
probably benign |
Het |
| Pogk |
A |
G |
1: 166,226,402 (GRCm39) |
V583A |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 30,602,143 (GRCm39) |
K371R |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
| Rgs12 |
A |
G |
5: 35,196,626 (GRCm39) |
R769G |
possibly damaging |
Het |
| Sgtb |
T |
A |
13: 104,276,284 (GRCm39) |
N237K |
probably damaging |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,476,751 (GRCm39) |
V91A |
probably damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,691,554 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
T |
C |
14: 14,778,872 (GRCm38) |
V940A |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,499 (GRCm39) |
T740A |
probably benign |
Het |
| Tnk2 |
G |
T |
16: 32,489,737 (GRCm39) |
|
probably null |
Het |
| Trpv2 |
A |
G |
11: 62,483,059 (GRCm39) |
Y450C |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,948,054 (GRCm39) |
T354A |
probably benign |
Het |
| Tvp23a |
A |
T |
16: 10,264,862 (GRCm39) |
D16E |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,997,850 (GRCm39) |
F460L |
possibly damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,356 (GRCm39) |
L1021P |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,837,993 (GRCm39) |
Y1848H |
probably damaging |
Het |
| Vwa8 |
T |
G |
14: 79,324,121 (GRCm39) |
N1141K |
probably benign |
Het |
| Yipf3 |
A |
G |
17: 46,561,793 (GRCm39) |
Y200C |
probably damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,044 (GRCm39) |
V680A |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,231,347 (GRCm39) |
E722G |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,806,059 (GRCm39) |
L2665H |
probably damaging |
Het |
|
| Other mutations in L3mbtl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:L3mbtl2
|
APN |
15 |
81,569,099 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01380:L3mbtl2
|
APN |
15 |
81,555,326 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01479:L3mbtl2
|
APN |
15 |
81,560,593 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02943:L3mbtl2
|
APN |
15 |
81,570,456 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03406:L3mbtl2
|
APN |
15 |
81,566,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:L3mbtl2
|
UTSW |
15 |
81,560,508 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0393:L3mbtl2
|
UTSW |
15 |
81,552,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0394:L3mbtl2
|
UTSW |
15 |
81,552,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:L3mbtl2
|
UTSW |
15 |
81,552,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:L3mbtl2
|
UTSW |
15 |
81,568,487 (GRCm39) |
splice site |
probably benign |
|
|
R1263:L3mbtl2
|
UTSW |
15 |
81,567,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1426:L3mbtl2
|
UTSW |
15 |
81,560,518 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1542:L3mbtl2
|
UTSW |
15 |
81,566,352 (GRCm39) |
missense |
probably null |
0.45 |
|
R1922:L3mbtl2
|
UTSW |
15 |
81,559,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:L3mbtl2
|
UTSW |
15 |
81,566,215 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2237:L3mbtl2
|
UTSW |
15 |
81,568,531 (GRCm39) |
missense |
probably benign |
|
|
R4112:L3mbtl2
|
UTSW |
15 |
81,566,170 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4577:L3mbtl2
|
UTSW |
15 |
81,570,486 (GRCm39) |
missense |
probably benign |
|
|
R4583:L3mbtl2
|
UTSW |
15 |
81,569,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:L3mbtl2
|
UTSW |
15 |
81,566,813 (GRCm39) |
missense |
probably benign |
|
|
R4787:L3mbtl2
|
UTSW |
15 |
81,548,175 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5448:L3mbtl2
|
UTSW |
15 |
81,568,534 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5776:L3mbtl2
|
UTSW |
15 |
81,569,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:L3mbtl2
|
UTSW |
15 |
81,571,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6058:L3mbtl2
|
UTSW |
15 |
81,551,555 (GRCm39) |
missense |
probably benign |
|
|
R6259:L3mbtl2
|
UTSW |
15 |
81,566,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:L3mbtl2
|
UTSW |
15 |
81,555,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7311:L3mbtl2
|
UTSW |
15 |
81,551,588 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8797:L3mbtl2
|
UTSW |
15 |
81,569,615 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8857:L3mbtl2
|
UTSW |
15 |
81,571,320 (GRCm39) |
missense |
unknown |
|
|
R9035:L3mbtl2
|
UTSW |
15 |
81,560,744 (GRCm39) |
intron |
probably benign |
|
|
R9718:L3mbtl2
|
UTSW |
15 |
81,572,123 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCCTGTCCTGACCCTTAAAACAAA -3'
(R):5'- GTTCTACTGACCTGACATCTTGATGCC -3'
Sequencing Primer
(F):5'- gaaatcctcctgtctctgcc -3'
(R):5'- TCGTCATCACTGTCACCATC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation