Incidental Mutation 'R1263:L3mbtl2'
| ID |
151680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L3mbtl2
|
| Ensembl Gene |
ENSMUSG00000022394 |
| Gene Name |
L3MBTL2 polycomb repressive complex 1 subunit |
| Synonyms |
m4mbt, 4732493N06Rik |
| MMRRC Submission |
039330-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1263 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81663889-81688315 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81682968 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 423
(T423A)
|
| 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: T423A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023029
Gene: ENSMUSG00000022394
AA Change: T423A
| 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: T423A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394
AA Change: T423A
| 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 benign
Transcript: ENSMUST00000174229
AA Change: T423A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133967
Gene: ENSMUSG00000022394
AA Change: T423A
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010F05Rik |
A |
T |
11: 23,620,278 (GRCm38) |
Y207* |
probably null |
Het |
| Abca8b |
A |
C |
11: 109,941,607 (GRCm38) |
H1231Q |
possibly damaging |
Het |
| Acbd4 |
T |
A |
11: 103,103,851 (GRCm38) |
|
probably null |
Het |
| Atp13a4 |
T |
A |
16: 29,471,953 (GRCm38) |
Y226F |
possibly damaging |
Het |
| Brd3 |
A |
C |
2: 27,462,522 (GRCm38) |
F132C |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,956,524 (GRCm38) |
N184I |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,903,887 (GRCm38) |
E351G |
possibly damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,747,353 (GRCm38) |
Y590* |
probably null |
Het |
| Chil1 |
G |
A |
1: 134,189,242 (GRCm38) |
E315K |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,709,489 (GRCm38) |
M1778L |
probably benign |
Het |
| Cyp3a59 |
A |
C |
5: 146,104,711 (GRCm38) |
Y355S |
probably damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,574,711 (GRCm38) |
T396A |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,144,965 (GRCm38) |
I1373N |
probably damaging |
Het |
| Dopey2 |
C |
A |
16: 93,777,386 (GRCm38) |
H1598N |
probably benign |
Het |
| Erich4 |
T |
A |
7: 25,615,134 (GRCm38) |
K118M |
probably damaging |
Het |
| Gkap1 |
A |
T |
13: 58,255,773 (GRCm38) |
V179E |
probably benign |
Het |
| Gpr107 |
T |
G |
2: 31,178,255 (GRCm38) |
I243S |
possibly damaging |
Het |
| Hs3st6 |
A |
G |
17: 24,758,530 (GRCm38) |
N328S |
probably damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,479,378 (GRCm38) |
I375N |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,676,966 (GRCm38) |
H266Q |
probably benign |
Het |
| Krt71 |
C |
T |
15: 101,735,466 (GRCm38) |
G446R |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,952,469 (GRCm38) |
E1812G |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,097,122 (GRCm38) |
I1174T |
probably benign |
Het |
| Npas2 |
C |
A |
1: 39,334,768 (GRCm38) |
Q450K |
possibly damaging |
Het |
| Nrp1 |
T |
A |
8: 128,468,389 (GRCm38) |
I442N |
probably damaging |
Het |
| Olfr1385 |
A |
T |
11: 49,495,021 (GRCm38) |
M163L |
probably benign |
Het |
| Olfr338 |
T |
A |
2: 36,376,994 (GRCm38) |
S73T |
probably damaging |
Het |
| Palld |
TGCGTAGCG |
TGCG |
8: 61,513,457 (GRCm38) |
|
probably null |
Het |
| Pih1d3 |
A |
T |
1: 31,223,215 (GRCm38) |
I93F |
probably damaging |
Het |
| Pold3 |
T |
A |
7: 100,119,683 (GRCm38) |
Q36L |
possibly damaging |
Het |
| Polg |
T |
C |
7: 79,459,786 (GRCm38) |
T428A |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,577,047 (GRCm38) |
V57E |
possibly damaging |
Het |
| Rnf122 |
T |
G |
8: 31,112,149 (GRCm38) |
M1R |
probably null |
Het |
| Scn10a |
T |
A |
9: 119,617,733 (GRCm38) |
T1410S |
probably damaging |
Het |
| Serpinb13 |
T |
A |
1: 107,000,736 (GRCm38) |
V362E |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,327,611 (GRCm38) |
N927S |
probably damaging |
Het |
| Sft2d1 |
A |
G |
17: 8,320,638 (GRCm38) |
K91R |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,159,530 (GRCm38) |
H327R |
probably damaging |
Het |
| Slc9b2 |
C |
A |
3: 135,336,395 (GRCm38) |
H478Q |
probably benign |
Het |
| Styxl1 |
G |
T |
5: 135,753,883 (GRCm38) |
S117R |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,019,359 (GRCm38) |
F150L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 50,845,513 (GRCm38) |
V1013L |
possibly damaging |
Het |
| Tgfbi |
T |
A |
13: 56,630,655 (GRCm38) |
L413Q |
probably damaging |
Het |
| Tmc5 |
G |
A |
7: 118,666,870 (GRCm38) |
R789Q |
probably damaging |
Het |
| Tonsl |
T |
A |
15: 76,622,562 (GRCm38) |
I115F |
possibly damaging |
Het |
| Trim38 |
A |
G |
13: 23,791,134 (GRCm38) |
Y352C |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,207,321 (GRCm38) |
V44D |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,661,609 (GRCm38) |
V39A |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,208,322 (GRCm38) |
C831R |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,050,708 (GRCm38) |
I469N |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,581,606 (GRCm38) |
Y762C |
probably benign |
Het |
| Vps13d |
T |
A |
4: 145,170,348 (GRCm38) |
Q334L |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,364,165 (GRCm38) |
I227N |
probably damaging |
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 |
|
IGL03406:L3mbtl2
|
APN |
15 |
81,681,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGCAAGGTCCCATTGTAGCC -3'
(R):5'- TGTATCCTCTCCACCAGATAGCCG -3'
Sequencing Primer
(F):5'- CCCATTGTAGCCTGGTTTGG -3'
(R):5'- AAGAGTGTCCTTAGGCTCAGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation