Incidental Mutation 'IGL01479:L3mbtl2'
ID |
88551 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
L3mbtl2
|
Ensembl Gene |
ENSMUSG00000022394 |
Gene Name |
L3MBTL2 polycomb repressive complex 1 subunit |
Synonyms |
4732493N06Rik, m4mbt |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01479
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
81548090-81572516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81560593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 285
(T285A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133967
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023029]
[ENSMUST00000172568]
[ENSMUST00000172748]
[ENSMUST00000173598]
[ENSMUST00000174229]
|
AlphaFold |
P59178 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023029
AA Change: T285A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000023029 Gene: ENSMUSG00000022394 AA Change: T285A
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: ENSMUST00000172568
AA Change: T285A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172620
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172748
AA Change: T285A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000134333 Gene: ENSMUSG00000022394 AA Change: T285A
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: ENSMUST00000173607
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174229
AA Change: T285A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000133967 Gene: ENSMUSG00000022394 AA Change: T285A
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 |
unknown
Transcript: ENSMUST00000174497
AA Change: T82A
|
SMART Domains |
Protein: ENSMUSP00000133549 Gene: ENSMUSG00000022394 AA Change: T82A
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
T |
C |
13: 4,322,934 (GRCm39) |
K225R |
probably benign |
Het |
Amn |
C |
A |
12: 111,238,227 (GRCm39) |
A47E |
probably damaging |
Het |
Arhgef1 |
T |
C |
7: 24,612,028 (GRCm39) |
I137T |
probably benign |
Het |
Cep57l1 |
T |
C |
10: 41,604,635 (GRCm39) |
K165E |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,292,859 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,846,543 (GRCm39) |
V2923A |
probably benign |
Het |
Dnaja2 |
T |
C |
8: 86,280,580 (GRCm39) |
Y35C |
probably damaging |
Het |
Dnajc2 |
T |
C |
5: 21,962,891 (GRCm39) |
T481A |
probably damaging |
Het |
Foxred2 |
A |
G |
15: 77,836,489 (GRCm39) |
|
probably null |
Het |
Gin1 |
C |
T |
1: 97,720,097 (GRCm39) |
T364I |
possibly damaging |
Het |
Glt8d2 |
C |
T |
10: 82,496,570 (GRCm39) |
V163I |
probably damaging |
Het |
Gm10118 |
T |
C |
10: 63,762,599 (GRCm39) |
|
probably benign |
Het |
Hps5 |
C |
T |
7: 46,412,366 (GRCm39) |
|
probably null |
Het |
Kdm4c |
A |
G |
4: 74,261,738 (GRCm39) |
K638E |
probably benign |
Het |
Mab21l1 |
A |
G |
3: 55,691,253 (GRCm39) |
Y280C |
probably damaging |
Het |
Mcoln2 |
T |
A |
3: 145,881,407 (GRCm39) |
|
probably benign |
Het |
Myo9b |
G |
T |
8: 71,811,986 (GRCm39) |
R1926L |
probably damaging |
Het |
Rrp12 |
A |
G |
19: 41,853,641 (GRCm39) |
V1251A |
probably benign |
Het |
Rtn4rl1 |
A |
G |
11: 75,156,168 (GRCm39) |
D200G |
probably damaging |
Het |
Sbsn |
G |
A |
7: 30,451,782 (GRCm39) |
A266T |
possibly damaging |
Het |
Sgca |
A |
T |
11: 94,854,204 (GRCm39) |
C335* |
probably null |
Het |
Spag1 |
T |
C |
15: 36,233,345 (GRCm39) |
|
probably benign |
Het |
Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
Tigit |
T |
C |
16: 43,479,885 (GRCm39) |
T137A |
probably benign |
Het |
Tmem125 |
G |
A |
4: 118,398,820 (GRCm39) |
Q204* |
probably null |
Het |
Tmem59l |
C |
T |
8: 70,938,748 (GRCm39) |
R111Q |
probably benign |
Het |
Vmn2r95 |
G |
A |
17: 18,664,124 (GRCm39) |
G448R |
probably damaging |
Het |
Zfp64 |
T |
C |
2: 168,793,599 (GRCm39) |
H49R |
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 |
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 |
R1556:L3mbtl2
|
UTSW |
15 |
81,566,203 (GRCm39) |
missense |
probably benign |
0.23 |
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 |
|
|
Posted On |
2013-11-18 |