Incidental Mutation 'R5776:L3mbtl2'
| ID |
446728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L3mbtl2
|
| Ensembl Gene |
ENSMUSG00000022394 |
| Gene Name |
L3MBTL2 polycomb repressive complex 1 subunit |
| Synonyms |
4732493N06Rik, m4mbt |
| MMRRC Submission |
043375-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5776 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81548090-81572516 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81569072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 582
(D582G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023029]
[ENSMUST00000072910]
[ENSMUST00000172568]
[ENSMUST00000172748]
[ENSMUST00000173598]
[ENSMUST00000174229]
|
| AlphaFold |
P59178 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023029
AA Change: D582G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023029
Gene: ENSMUSG00000022394
AA Change: D582G
| 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 damaging
Transcript: ENSMUST00000172748
AA Change: D582G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134333
Gene: ENSMUSG00000022394
AA Change: D582G
| 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 damaging
Transcript: ENSMUST00000174229
AA Change: D582G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133967
Gene: ENSMUSG00000022394
AA Change: D582G
| 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 |
|
| Meta Mutation Damage Score |
0.8853 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
98% (64/65) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,107,649 (GRCm39) |
M378K |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,514,132 (GRCm39) |
V857A |
probably benign |
Het |
| Abca9 |
C |
T |
11: 109,998,286 (GRCm39) |
|
probably null |
Het |
| Adam22 |
T |
C |
5: 8,177,361 (GRCm39) |
K583E |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,244,186 (GRCm39) |
F80L |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,056,149 (GRCm39) |
I1511F |
possibly damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,095,665 (GRCm39) |
E1811G |
possibly damaging |
Het |
| Cfh |
C |
A |
1: 140,071,761 (GRCm39) |
R291I |
possibly damaging |
Het |
| Col1a1 |
C |
T |
11: 94,840,550 (GRCm39) |
S1114F |
unknown |
Het |
| Ctsj |
T |
C |
13: 61,150,956 (GRCm39) |
D168G |
probably damaging |
Het |
| Erf |
T |
C |
7: 24,945,534 (GRCm39) |
D79G |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,085,083 (GRCm39) |
N629S |
possibly damaging |
Het |
| Fbxo9 |
T |
C |
9: 78,002,469 (GRCm39) |
E204G |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,778 (GRCm39) |
V9L |
possibly damaging |
Het |
| Gfer |
G |
T |
17: 24,915,027 (GRCm39) |
S5R |
probably benign |
Het |
| Gm15931 |
A |
T |
7: 4,284,564 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6309 |
T |
A |
5: 146,105,691 (GRCm39) |
I158F |
possibly damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hacl1 |
A |
T |
14: 31,344,828 (GRCm39) |
N234K |
possibly damaging |
Het |
| Hcn3 |
C |
T |
3: 89,055,412 (GRCm39) |
A612T |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,810,897 (GRCm39) |
E1679D |
possibly damaging |
Het |
| Hipk4 |
T |
C |
7: 27,228,405 (GRCm39) |
L285P |
probably damaging |
Het |
| Igsf3 |
G |
A |
3: 101,332,796 (GRCm39) |
V25I |
probably benign |
Het |
| Jade1 |
A |
G |
3: 41,568,227 (GRCm39) |
H765R |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,977,963 (GRCm39) |
D25G |
unknown |
Het |
| Klhl3 |
A |
G |
13: 58,152,998 (GRCm39) |
S586P |
probably benign |
Het |
| Matn2 |
G |
A |
15: 34,431,765 (GRCm39) |
C835Y |
probably damaging |
Het |
| Naa15 |
A |
C |
3: 51,367,447 (GRCm39) |
D490A |
probably damaging |
Het |
| Nab2 |
T |
A |
10: 127,500,198 (GRCm39) |
Y298F |
probably damaging |
Het |
| Nipsnap1 |
T |
A |
11: 4,838,919 (GRCm39) |
M115K |
probably benign |
Het |
| Nlrp5-ps |
T |
C |
7: 14,326,649 (GRCm39) |
|
noncoding transcript |
Het |
| Nol4l |
T |
G |
2: 153,259,741 (GRCm39) |
Q211P |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,760,363 (GRCm39) |
E265G |
probably damaging |
Het |
| Or52z15 |
T |
A |
7: 103,332,246 (GRCm39) |
M97K |
probably damaging |
Het |
| Or6k14 |
A |
T |
1: 173,927,339 (GRCm39) |
H105L |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,279,409 (GRCm39) |
K2970E |
possibly damaging |
Het |
| Plin4 |
T |
C |
17: 56,411,983 (GRCm39) |
T683A |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,362,454 (GRCm39) |
D282G |
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,576,901 (GRCm39) |
S10P |
possibly damaging |
Het |
| Raph1 |
G |
A |
1: 60,529,315 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,268,325 (GRCm39) |
V935A |
possibly damaging |
Het |
| Reg4 |
T |
A |
3: 98,140,344 (GRCm39) |
D108E |
possibly damaging |
Het |
| Saraf |
T |
A |
8: 34,632,604 (GRCm39) |
Y228N |
probably damaging |
Het |
| Sctr |
T |
C |
1: 119,984,137 (GRCm39) |
S357P |
probably damaging |
Het |
| Sec22b |
A |
T |
3: 97,821,884 (GRCm39) |
N139Y |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,398,823 (GRCm39) |
I1037F |
probably damaging |
Het |
| Skint5 |
A |
C |
4: 113,620,700 (GRCm39) |
S671R |
unknown |
Het |
| Slc38a3 |
C |
A |
9: 107,535,948 (GRCm39) |
E62* |
probably null |
Het |
| Slfn14 |
C |
T |
11: 83,174,425 (GRCm39) |
E189K |
probably damaging |
Het |
| Sox21 |
A |
G |
14: 118,472,656 (GRCm39) |
L131P |
probably damaging |
Het |
| Stip1 |
A |
G |
19: 6,999,393 (GRCm39) |
|
probably null |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Susd1 |
T |
C |
4: 59,315,363 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,005,689 (GRCm39) |
D498E |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,165,532 (GRCm39) |
E1053K |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,692,211 (GRCm39) |
D103G |
probably damaging |
Het |
| Txndc15 |
A |
G |
13: 55,865,920 (GRCm39) |
E128G |
probably benign |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,673 (GRCm39) |
W306R |
probably damaging |
Het |
| Yjefn3 |
A |
T |
8: 70,342,121 (GRCm39) |
L33Q |
probably damaging |
Het |
| Zfp641 |
T |
C |
15: 98,186,891 (GRCm39) |
D244G |
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 |
|
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 |
|
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'- TTGCTAAGGCCTAGAACTGGC -3'
(R):5'- TTCTCCGTCTCATGCTAGAGG -3'
Sequencing Primer
(F):5'- TAGAACTGGCCAGCTGGG -3'
(R):5'- TCTCATGCTAGAGGACGCTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation