Incidental Mutation 'R8762:L3mbtl3'
| ID |
671860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L3mbtl3
|
| Ensembl Gene |
ENSMUSG00000039089 |
| Gene Name |
L3MBTL3 histone methyl-lysine binding protein |
| Synonyms |
MBT-1 |
| MMRRC Submission |
068622-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8762 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
26150366-26251967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26152121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 825
(D825V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040219]
[ENSMUST00000060716]
[ENSMUST00000105519]
[ENSMUST00000174766]
[ENSMUST00000220219]
|
| AlphaFold |
Q8BLB7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040219
AA Change: D850V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089
AA Change: D850V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
214 |
N/A |
INTRINSIC |
|
MBT
|
232 |
332 |
3.75e-48 |
SMART |
|
MBT
|
340 |
439 |
3.67e-42 |
SMART |
|
MBT
|
448 |
543 |
7.5e-48 |
SMART |
|
low complexity region
|
604 |
615 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
770 |
N/A |
INTRINSIC |
|
SAM
|
808 |
875 |
2.49e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060716
|
| SMART Domains |
Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
66 |
3e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105519
AA Change: D825V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089
AA Change: D825V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
129 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
189 |
N/A |
INTRINSIC |
|
MBT
|
207 |
307 |
3.75e-48 |
SMART |
|
MBT
|
315 |
414 |
3.67e-42 |
SMART |
|
MBT
|
423 |
518 |
7.5e-48 |
SMART |
|
low complexity region
|
579 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
637 |
745 |
N/A |
INTRINSIC |
|
SAM
|
783 |
850 |
2.49e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174766
AA Change: D850V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089
AA Change: D850V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
214 |
N/A |
INTRINSIC |
|
MBT
|
232 |
332 |
3.75e-48 |
SMART |
|
MBT
|
340 |
439 |
3.67e-42 |
SMART |
|
MBT
|
448 |
543 |
7.5e-48 |
SMART |
|
low complexity region
|
604 |
615 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
770 |
N/A |
INTRINSIC |
|
SAM
|
808 |
875 |
2.49e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219738
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220219
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null mutation die between E17.5 ? 19.5 due to disturbed erythropoiesis which result in anemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
A |
G |
11: 101,301,226 (GRCm39) |
V272A |
probably benign |
Het |
| Acbd6 |
G |
A |
1: 155,562,706 (GRCm39) |
E236K |
probably damaging |
Het |
| Actr1b |
T |
C |
1: 36,748,909 (GRCm39) |
N9S |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,401,595 (GRCm39) |
D133E |
probably benign |
Het |
| Adam6b |
G |
A |
12: 113,453,227 (GRCm39) |
V15M |
probably damaging |
Het |
| Adam9 |
T |
A |
8: 25,457,235 (GRCm39) |
N631I |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,714,461 (GRCm39) |
N157S |
probably benign |
Het |
| Amy2a1 |
A |
T |
3: 113,325,276 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
A |
T |
2: 84,967,515 (GRCm39) |
Y180F |
probably benign |
Het |
| Arhgef7 |
T |
C |
8: 11,831,216 (GRCm39) |
V105A |
probably benign |
Het |
| Bambi |
G |
A |
18: 3,511,277 (GRCm39) |
D33N |
probably damaging |
Het |
| Bicc1 |
G |
A |
10: 70,779,216 (GRCm39) |
T724I |
probably benign |
Het |
| Brd2 |
T |
A |
17: 34,335,934 (GRCm39) |
Q93L |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,972,759 (GRCm39) |
D222G |
possibly damaging |
Het |
| Cdh1 |
G |
T |
8: 107,386,336 (GRCm39) |
D420Y |
probably damaging |
Het |
| Cep162 |
T |
C |
9: 87,109,314 (GRCm39) |
S430G |
probably benign |
Het |
| Cfap161 |
T |
A |
7: 83,443,282 (GRCm39) |
R27S |
possibly damaging |
Het |
| Chek1 |
C |
T |
9: 36,629,636 (GRCm39) |
A237T |
probably benign |
Het |
| Chrna3 |
T |
A |
9: 54,922,995 (GRCm39) |
K271M |
probably damaging |
Het |
| Coro7 |
A |
C |
16: 4,452,203 (GRCm39) |
V410G |
probably benign |
Het |
| Crmp1 |
C |
A |
5: 37,441,440 (GRCm39) |
N507K |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,761,369 (GRCm39) |
R755G |
possibly damaging |
Het |
| Disc1 |
A |
G |
8: 125,881,796 (GRCm39) |
D577G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,156,811 (GRCm39) |
Y649H |
possibly damaging |
Het |
| Flywch1 |
A |
G |
17: 23,975,731 (GRCm39) |
S504P |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,097,851 (GRCm39) |
V46D |
probably damaging |
Het |
| Fpr-rs7 |
C |
T |
17: 20,333,789 (GRCm39) |
V234M |
probably benign |
Het |
| Ighv5-16 |
T |
C |
12: 113,802,288 (GRCm39) |
N71D |
probably benign |
Het |
| Kash5 |
G |
T |
7: 44,845,481 (GRCm39) |
D152E |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,937,157 (GRCm39) |
M480V |
probably benign |
Het |
| Lef1 |
T |
A |
3: 130,988,366 (GRCm39) |
M311K |
probably damaging |
Het |
| Magi1 |
T |
A |
6: 93,792,789 (GRCm39) |
R150* |
probably null |
Het |
| Magi3 |
C |
T |
3: 103,958,169 (GRCm39) |
V639I |
probably damaging |
Het |
| Mocos |
A |
T |
18: 24,812,554 (GRCm39) |
R483W |
probably damaging |
Het |
| Mrps11 |
G |
T |
7: 78,438,487 (GRCm39) |
V80F |
possibly damaging |
Het |
| Myh2 |
A |
T |
11: 67,084,578 (GRCm39) |
R1706W |
probably damaging |
Het |
| Neurod6 |
T |
A |
6: 55,656,228 (GRCm39) |
L136F |
probably damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,711,306 (GRCm39) |
Y308N |
probably damaging |
Het |
| Nptn |
T |
A |
9: 58,525,905 (GRCm39) |
|
probably benign |
Het |
| Or1e28-ps1 |
G |
T |
11: 73,615,307 (GRCm39) |
T181N |
unknown |
Het |
| Or5g25 |
A |
T |
2: 85,478,034 (GRCm39) |
S210R |
probably damaging |
Het |
| Oscar |
A |
G |
7: 3,613,900 (GRCm39) |
S227P |
probably benign |
Het |
| Phgdh |
A |
C |
3: 98,247,024 (GRCm39) |
I42R |
possibly damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,761,935 (GRCm39) |
G174D |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,591,213 (GRCm39) |
T203A |
possibly damaging |
Het |
| Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
| Plppr4 |
A |
T |
3: 117,119,482 (GRCm39) |
V309D |
probably damaging |
Het |
| Pltp |
T |
C |
2: 164,686,652 (GRCm39) |
K324E |
possibly damaging |
Het |
| Pml |
C |
T |
9: 58,154,348 (GRCm39) |
R175H |
probably damaging |
Het |
| Psg20 |
C |
A |
7: 18,408,557 (GRCm39) |
V388F |
probably benign |
Het |
| Qrfprl |
T |
C |
6: 65,424,393 (GRCm39) |
V182A |
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,237,557 (GRCm39) |
D209G |
possibly damaging |
Het |
| Rif1 |
A |
T |
2: 52,001,742 (GRCm39) |
N90I |
|
Het |
| Sec31a |
T |
C |
5: 100,526,688 (GRCm39) |
H57R |
|
Het |
| Sidt1 |
T |
C |
16: 44,152,707 (GRCm39) |
N62S |
probably benign |
Het |
| Slc18a2 |
T |
A |
19: 59,261,355 (GRCm39) |
M172K |
probably benign |
Het |
| Slc34a3 |
T |
C |
2: 25,121,003 (GRCm39) |
T362A |
probably benign |
Het |
| Smtn |
T |
G |
11: 3,476,407 (GRCm39) |
D158A |
probably benign |
Het |
| Spen |
C |
T |
4: 141,200,261 (GRCm39) |
V2789M |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,910,849 (GRCm39) |
N608K |
probably benign |
Het |
| Tctn3 |
A |
G |
19: 40,595,636 (GRCm39) |
V383A |
unknown |
Het |
| Themis3 |
A |
T |
17: 66,866,676 (GRCm39) |
M188K |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,652,313 (GRCm39) |
V124A |
probably benign |
Het |
| Tshr |
G |
A |
12: 91,504,324 (GRCm39) |
V421M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,539,426 (GRCm39) |
D34520V |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,608,294 (GRCm39) |
Y17876* |
probably null |
Het |
| Zrsr2-ps1 |
T |
C |
11: 22,923,694 (GRCm39) |
L156P |
probably benign |
Het |
|
| Other mutations in L3mbtl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:L3mbtl3
|
APN |
10 |
26,189,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01357:L3mbtl3
|
APN |
10 |
26,206,083 (GRCm39) |
missense |
unknown |
|
|
IGL01712:L3mbtl3
|
APN |
10 |
26,152,133 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01759:L3mbtl3
|
APN |
10 |
26,207,798 (GRCm39) |
missense |
unknown |
|
|
IGL01928:L3mbtl3
|
APN |
10 |
26,206,143 (GRCm39) |
missense |
unknown |
|
|
IGL01955:L3mbtl3
|
APN |
10 |
26,194,336 (GRCm39) |
missense |
unknown |
|
|
IGL02674:L3mbtl3
|
APN |
10 |
26,158,711 (GRCm39) |
missense |
unknown |
|
|
IGL02731:L3mbtl3
|
APN |
10 |
26,220,074 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03188:L3mbtl3
|
APN |
10 |
26,218,515 (GRCm39) |
missense |
unknown |
|
|
IGL03252:L3mbtl3
|
APN |
10 |
26,207,710 (GRCm39) |
splice site |
probably benign |
|
|
IGL03298:L3mbtl3
|
APN |
10 |
26,158,696 (GRCm39) |
missense |
unknown |
|
|
IGL03400:L3mbtl3
|
APN |
10 |
26,191,424 (GRCm39) |
missense |
unknown |
|
|
R0121:L3mbtl3
|
UTSW |
10 |
26,189,768 (GRCm39) |
missense |
unknown |
|
|
R0468:L3mbtl3
|
UTSW |
10 |
26,203,630 (GRCm39) |
missense |
unknown |
|
|
R0497:L3mbtl3
|
UTSW |
10 |
26,158,772 (GRCm39) |
splice site |
probably benign |
|
|
R0586:L3mbtl3
|
UTSW |
10 |
26,203,732 (GRCm39) |
missense |
unknown |
|
|
R0633:L3mbtl3
|
UTSW |
10 |
26,178,583 (GRCm39) |
missense |
unknown |
|
|
R0679:L3mbtl3
|
UTSW |
10 |
26,189,831 (GRCm39) |
nonsense |
probably null |
|
|
R1302:L3mbtl3
|
UTSW |
10 |
26,203,667 (GRCm39) |
missense |
unknown |
|
|
R2128:L3mbtl3
|
UTSW |
10 |
26,189,766 (GRCm39) |
missense |
unknown |
|
|
R2267:L3mbtl3
|
UTSW |
10 |
26,207,755 (GRCm39) |
nonsense |
probably null |
|
|
R3121:L3mbtl3
|
UTSW |
10 |
26,220,119 (GRCm39) |
intron |
probably benign |
|
|
R3410:L3mbtl3
|
UTSW |
10 |
26,215,197 (GRCm39) |
missense |
unknown |
|
|
R4237:L3mbtl3
|
UTSW |
10 |
26,216,846 (GRCm39) |
missense |
unknown |
|
|
R4257:L3mbtl3
|
UTSW |
10 |
26,156,020 (GRCm39) |
missense |
unknown |
|
|
R4308:L3mbtl3
|
UTSW |
10 |
26,158,690 (GRCm39) |
missense |
unknown |
|
|
R4359:L3mbtl3
|
UTSW |
10 |
26,203,639 (GRCm39) |
missense |
unknown |
|
|
R4407:L3mbtl3
|
UTSW |
10 |
26,189,782 (GRCm39) |
missense |
unknown |
|
|
R4613:L3mbtl3
|
UTSW |
10 |
26,158,693 (GRCm39) |
missense |
unknown |
|
|
R4663:L3mbtl3
|
UTSW |
10 |
26,213,715 (GRCm39) |
missense |
unknown |
|
|
R4843:L3mbtl3
|
UTSW |
10 |
26,207,777 (GRCm39) |
missense |
unknown |
|
|
R4886:L3mbtl3
|
UTSW |
10 |
26,168,668 (GRCm39) |
missense |
unknown |
|
|
R5158:L3mbtl3
|
UTSW |
10 |
26,179,586 (GRCm39) |
missense |
unknown |
|
|
R5247:L3mbtl3
|
UTSW |
10 |
26,203,706 (GRCm39) |
missense |
unknown |
|
|
R5580:L3mbtl3
|
UTSW |
10 |
26,179,604 (GRCm39) |
missense |
unknown |
|
|
R5966:L3mbtl3
|
UTSW |
10 |
26,207,762 (GRCm39) |
missense |
unknown |
|
|
R6218:L3mbtl3
|
UTSW |
10 |
26,168,645 (GRCm39) |
missense |
unknown |
|
|
R6508:L3mbtl3
|
UTSW |
10 |
26,194,325 (GRCm39) |
missense |
unknown |
|
|
R6563:L3mbtl3
|
UTSW |
10 |
26,178,761 (GRCm39) |
splice site |
probably null |
|
|
R6709:L3mbtl3
|
UTSW |
10 |
26,158,695 (GRCm39) |
missense |
unknown |
|
|
R6927:L3mbtl3
|
UTSW |
10 |
26,168,567 (GRCm39) |
nonsense |
probably null |
|
|
R6984:L3mbtl3
|
UTSW |
10 |
26,158,753 (GRCm39) |
missense |
unknown |
|
|
R7010:L3mbtl3
|
UTSW |
10 |
26,158,759 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7229:L3mbtl3
|
UTSW |
10 |
26,168,560 (GRCm39) |
missense |
unknown |
|
|
R7231:L3mbtl3
|
UTSW |
10 |
26,215,180 (GRCm39) |
missense |
unknown |
|
|
R7296:L3mbtl3
|
UTSW |
10 |
26,158,728 (GRCm39) |
missense |
unknown |
|
|
R7363:L3mbtl3
|
UTSW |
10 |
26,216,850 (GRCm39) |
missense |
unknown |
|
|
R7490:L3mbtl3
|
UTSW |
10 |
26,215,129 (GRCm39) |
missense |
unknown |
|
|
R7775:L3mbtl3
|
UTSW |
10 |
26,228,215 (GRCm39) |
missense |
unknown |
|
|
R7815:L3mbtl3
|
UTSW |
10 |
26,156,276 (GRCm39) |
missense |
unknown |
|
|
R8272:L3mbtl3
|
UTSW |
10 |
26,179,566 (GRCm39) |
missense |
unknown |
|
|
R8925:L3mbtl3
|
UTSW |
10 |
26,220,084 (GRCm39) |
missense |
unknown |
|
|
R8927:L3mbtl3
|
UTSW |
10 |
26,220,084 (GRCm39) |
missense |
unknown |
|
|
R9043:L3mbtl3
|
UTSW |
10 |
26,156,152 (GRCm39) |
missense |
unknown |
|
|
R9228:L3mbtl3
|
UTSW |
10 |
26,212,155 (GRCm39) |
missense |
unknown |
|
|
Z1177:L3mbtl3
|
UTSW |
10 |
26,178,561 (GRCm39) |
missense |
unknown |
|
|
Z1177:L3mbtl3
|
UTSW |
10 |
26,156,300 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATATGCAGCTGGACGGACAG -3'
(R):5'- AAGAGCTCCTGTGTATGCTGTG -3'
Sequencing Primer
(F):5'- AAGACTTCTCACTTGGGAGC -3'
(R):5'- CCTGTGTATGCTGTGTTAGTATTGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation