Incidental Mutation 'IGL02943:L3mbtl2'
| ID |
364611 |
| 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 # |
IGL02943
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
81548090-81572516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81570456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 645
(S645T)
|
| 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: S645T
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000023029
Gene: ENSMUSG00000022394
AA Change: S645T
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172748
AA Change: S645T
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394
AA Change: S645T
| 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 |
possibly damaging
Transcript: ENSMUST00000174229
AA Change: S645T
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133967
Gene: ENSMUSG00000022394
AA Change: S645T
| 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: 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 |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
T |
A |
1: 87,054,091 (GRCm39) |
Y236* |
probably null |
Het |
| Ankrd13c |
C |
T |
3: 157,653,564 (GRCm39) |
T134M |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,498,553 (GRCm39) |
S529P |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,185,103 (GRCm39) |
N96I |
possibly damaging |
Het |
| Cep57 |
A |
T |
9: 13,730,149 (GRCm39) |
|
probably benign |
Het |
| Chchd7 |
T |
C |
4: 3,942,796 (GRCm39) |
Y44H |
probably damaging |
Het |
| Ciart |
T |
C |
3: 95,786,314 (GRCm39) |
I254V |
possibly damaging |
Het |
| Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,650,433 (GRCm39) |
|
probably null |
Het |
| Ednra |
T |
A |
8: 78,446,683 (GRCm39) |
I132F |
probably damaging |
Het |
| En2 |
T |
C |
5: 28,371,524 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,846,613 (GRCm39) |
R1102G |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,822,701 (GRCm39) |
Q6145K |
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,889,780 (GRCm39) |
D460V |
probably damaging |
Het |
| Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
| Gpr84 |
T |
C |
15: 103,217,316 (GRCm39) |
I254V |
probably benign |
Het |
| Hacd3 |
A |
T |
9: 64,897,718 (GRCm39) |
I298N |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,743,438 (GRCm39) |
V378E |
probably damaging |
Het |
| Il20rb |
G |
T |
9: 100,348,305 (GRCm39) |
H210N |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,798,243 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
C |
T |
13: 115,185,832 (GRCm39) |
E57K |
possibly damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,055,433 (GRCm39) |
D571E |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,495,821 (GRCm39) |
S623G |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,285,854 (GRCm39) |
V3779A |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,078,878 (GRCm39) |
R279G |
probably benign |
Het |
| Lurap1l |
A |
G |
4: 80,871,872 (GRCm39) |
K122E |
probably damaging |
Het |
| Met |
T |
C |
6: 17,535,928 (GRCm39) |
Y785H |
possibly damaging |
Het |
| Myh3 |
T |
C |
11: 66,981,891 (GRCm39) |
F796L |
probably benign |
Het |
| Myo16 |
T |
C |
8: 10,450,595 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,294,723 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,068,974 (GRCm39) |
C292R |
probably damaging |
Het |
| Nmnat1 |
A |
G |
4: 149,557,745 (GRCm39) |
L99P |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,343,051 (GRCm39) |
L151F |
probably benign |
Het |
| Or5p64 |
A |
G |
7: 107,854,623 (GRCm39) |
F241L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,235 (GRCm39) |
V1124A |
unknown |
Het |
| Phf20l1 |
A |
G |
15: 66,466,733 (GRCm39) |
Y54C |
probably damaging |
Het |
| Postn |
T |
C |
3: 54,285,029 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
G |
9: 50,794,885 (GRCm39) |
D570G |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,858,542 (GRCm39) |
S1583A |
probably benign |
Het |
| Proser1 |
T |
C |
3: 53,386,524 (GRCm39) |
V802A |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,027,251 (GRCm39) |
N532K |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,351,172 (GRCm39) |
H555R |
possibly damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,789,524 (GRCm39) |
D276G |
possibly damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,131,752 (GRCm39) |
V635A |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,621,542 (GRCm39) |
Y620C |
probably damaging |
Het |
| Sall1 |
C |
T |
8: 89,757,749 (GRCm39) |
R785H |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,828,948 (GRCm39) |
L351F |
probably damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,748,377 (GRCm39) |
Q782L |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tas2r107 |
T |
A |
6: 131,636,369 (GRCm39) |
M227L |
probably damaging |
Het |
| Tecpr2 |
C |
T |
12: 110,934,183 (GRCm39) |
T1281I |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,205,639 (GRCm39) |
V759E |
probably benign |
Het |
| Trim2 |
T |
C |
3: 84,085,483 (GRCm39) |
T504A |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,590,906 (GRCm39) |
|
probably benign |
Het |
| Tssk4 |
T |
A |
14: 55,889,023 (GRCm39) |
V183E |
probably damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,686,364 (GRCm39) |
T18A |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,722,567 (GRCm39) |
S3P |
possibly damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,666 (GRCm39) |
V554E |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,641,250 (GRCm39) |
I2291V |
probably damaging |
Het |
| Vps39 |
A |
G |
2: 120,169,968 (GRCm39) |
S195P |
possibly damaging |
Het |
| Zfand4 |
T |
A |
6: 116,250,837 (GRCm39) |
|
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation