Incidental Mutation 'IGL03406:L3mbtl2'
| ID |
421598 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
L3mbtl2
|
| Ensembl Gene |
ENSMUSG00000022394 |
| Gene Name |
L3MBTL2 polycomb repressive complex 1 subunit |
| Synonyms |
m4mbt, 4732493N06Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
81663889-81688315 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81681993 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 339
(R339H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133967
(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: R339H
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023029
Gene: ENSMUSG00000022394
AA Change: R339H
| 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 damaging
Transcript: ENSMUST00000172568
AA Change: R339H
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172748
AA Change: R339H
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394
AA Change: R339H
| 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: 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174229
AA Change: R339H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133967
Gene: ENSMUSG00000022394
AA Change: R339H
| 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 |
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012P22Rik |
A |
G |
4: 144,423,844 |
Y56H |
probably damaging |
Het |
| A530016L24Rik |
T |
A |
12: 112,496,883 |
|
probably null |
Het |
| Adcy7 |
C |
T |
8: 88,318,319 |
R228* |
probably null |
Het |
| Cdcp1 |
T |
C |
9: 123,185,313 |
H132R |
probably benign |
Het |
| Cyp4a32 |
T |
C |
4: 115,602,303 |
I78T |
probably benign |
Het |
| Fap |
A |
T |
2: 62,542,122 |
|
probably benign |
Het |
| Gad1-ps |
C |
T |
10: 99,444,779 |
|
noncoding transcript |
Het |
| Gli3 |
T |
C |
13: 15,648,581 |
I296T |
probably damaging |
Het |
| H2-Q2 |
T |
C |
17: 35,342,825 |
V97A |
probably benign |
Het |
| Hr |
T |
A |
14: 70,563,420 |
|
probably null |
Het |
| Itgax |
C |
T |
7: 128,149,198 |
T1133I |
possibly damaging |
Het |
| Mast4 |
T |
C |
13: 102,737,107 |
K1726E |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 94,476,855 |
Y528H |
probably benign |
Het |
| Nmnat3 |
G |
A |
9: 98,399,477 |
G44D |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,661,568 |
D366V |
probably damaging |
Het |
| Olfr539 |
C |
A |
7: 140,667,511 |
L68M |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 109,954,591 |
|
probably benign |
Het |
| Ptpn22 |
C |
A |
3: 103,912,016 |
N795K |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,722,169 |
V289D |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,270,101 |
D40G |
possibly damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,947,585 |
|
noncoding transcript |
Het |
| Smarcad1 |
T |
A |
6: 65,092,526 |
F530Y |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,742,873 |
|
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,178,141 |
I379N |
possibly damaging |
Het |
| Tmem154 |
A |
G |
3: 84,684,260 |
N39S |
probably benign |
Het |
| Ubash3b |
T |
A |
9: 41,037,479 |
Y180F |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,639,295 |
D921E |
possibly damaging |
Het |
| Zdhhc20 |
T |
C |
14: 57,839,099 |
T366A |
probably benign |
Het |
| Zfp456 |
A |
T |
13: 67,366,331 |
C419S |
probably damaging |
Het |
| Zfp69 |
T |
C |
4: 120,931,084 |
T345A |
probably benign |
Het |
|
| Other mutations in L3mbtl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:L3mbtl2
|
APN |
15 |
81,684,898 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL01380:L3mbtl2
|
APN |
15 |
81,671,125 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL01479:L3mbtl2
|
APN |
15 |
81,676,392 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02943:L3mbtl2
|
APN |
15 |
81,686,255 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
PIT4431001:L3mbtl2
|
UTSW |
15 |
81,676,307 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0393:L3mbtl2
|
UTSW |
15 |
81,668,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0394:L3mbtl2
|
UTSW |
15 |
81,668,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0449:L3mbtl2
|
UTSW |
15 |
81,668,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0565:L3mbtl2
|
UTSW |
15 |
81,684,286 (GRCm38) |
splice site |
probably benign |
|
|
R1263:L3mbtl2
|
UTSW |
15 |
81,682,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1426:L3mbtl2
|
UTSW |
15 |
81,676,317 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1542:L3mbtl2
|
UTSW |
15 |
81,682,151 (GRCm38) |
missense |
probably null |
0.45 |
|
R1556:L3mbtl2
|
UTSW |
15 |
81,682,002 (GRCm38) |
missense |
probably benign |
0.23 |
|
R1922:L3mbtl2
|
UTSW |
15 |
81,675,621 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2135:L3mbtl2
|
UTSW |
15 |
81,682,014 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2237:L3mbtl2
|
UTSW |
15 |
81,684,330 (GRCm38) |
missense |
probably benign |
|
|
R4112:L3mbtl2
|
UTSW |
15 |
81,681,969 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4577:L3mbtl2
|
UTSW |
15 |
81,686,285 (GRCm38) |
missense |
probably benign |
|
|
R4583:L3mbtl2
|
UTSW |
15 |
81,684,906 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4779:L3mbtl2
|
UTSW |
15 |
81,682,612 (GRCm38) |
missense |
probably benign |
|
|
R4787:L3mbtl2
|
UTSW |
15 |
81,663,974 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R5448:L3mbtl2
|
UTSW |
15 |
81,684,333 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5776:L3mbtl2
|
UTSW |
15 |
81,684,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6019:L3mbtl2
|
UTSW |
15 |
81,686,942 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6058:L3mbtl2
|
UTSW |
15 |
81,667,354 (GRCm38) |
missense |
probably benign |
|
|
R6259:L3mbtl2
|
UTSW |
15 |
81,681,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7178:L3mbtl2
|
UTSW |
15 |
81,671,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7311:L3mbtl2
|
UTSW |
15 |
81,667,387 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R8797:L3mbtl2
|
UTSW |
15 |
81,685,414 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R8857:L3mbtl2
|
UTSW |
15 |
81,687,119 (GRCm38) |
missense |
unknown |
|
|
R9035:L3mbtl2
|
UTSW |
15 |
81,676,543 (GRCm38) |
intron |
probably benign |
|
|
R9718:L3mbtl2
|
UTSW |
15 |
81,687,922 (GRCm38) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation