Incidental Mutation 'R7379:L3mbtl1'
| ID |
572563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L3mbtl1
|
| Ensembl Gene |
ENSMUSG00000035576 |
| Gene Name |
L3MBTL1 histone methyl-lysine binding protein |
| Synonyms |
L3MBTL1 |
| MMRRC Submission |
045461-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
162785392-162816442 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 162802899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 347
(D347E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035751]
|
| AlphaFold |
A2A5N8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035751
AA Change: D347E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044038
Gene: ENSMUSG00000035576
AA Change: D347E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
234 |
242 |
N/A |
INTRINSIC |
|
MBT
|
280 |
380 |
5.34e-53 |
SMART |
|
MBT
|
388 |
487 |
2.17e-53 |
SMART |
|
MBT
|
496 |
591 |
1.49e-51 |
SMART |
|
Pfam:zf-C2HC
|
627 |
655 |
1.7e-17 |
PFAM |
|
SAM
|
754 |
821 |
3.49e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.8148 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal nervous system phenotype, hematopoietic system phenotype, immune system phenotype, cellular phenotype, and lifespan. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
G |
A |
17: 66,292,242 (GRCm39) |
R1064* |
probably null |
Het |
| Ccdc149 |
A |
G |
5: 52,562,408 (GRCm39) |
I206T |
probably damaging |
Het |
| Ctu1 |
AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG |
AGGACCGGGCAGGAGCCACCTGTGTATCGCAG |
7: 43,326,490 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,414,183 (GRCm39) |
T361A |
probably damaging |
Het |
| Cyp4a14 |
A |
T |
4: 115,350,907 (GRCm39) |
|
probably null |
Het |
| Cyp7b1 |
A |
G |
3: 18,151,538 (GRCm39) |
V225A |
probably benign |
Het |
| Esf1 |
A |
G |
2: 139,996,854 (GRCm39) |
I503T |
probably benign |
Het |
| Flrt2 |
G |
A |
12: 95,747,329 (GRCm39) |
V556I |
possibly damaging |
Het |
| Gaa |
T |
C |
11: 119,174,525 (GRCm39) |
S791P |
probably benign |
Het |
| H2-T22 |
A |
G |
17: 36,353,232 (GRCm39) |
|
probably null |
Het |
| Hexb |
A |
G |
13: 97,317,672 (GRCm39) |
S342P |
probably damaging |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ift57 |
A |
G |
16: 49,581,357 (GRCm39) |
E341G |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,194 (GRCm39) |
I240K |
probably benign |
Het |
| Kit |
A |
T |
5: 75,808,412 (GRCm39) |
S719C |
probably damaging |
Het |
| Klf1 |
T |
A |
8: 85,629,846 (GRCm39) |
Y224N |
possibly damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,709 (GRCm39) |
E387G |
probably damaging |
Het |
| Map1s |
A |
G |
8: 71,366,219 (GRCm39) |
T375A |
possibly damaging |
Het |
| Mturn |
A |
G |
6: 54,666,069 (GRCm39) |
T81A |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,024,446 (GRCm39) |
E506G |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,369,479 (GRCm39) |
F512S |
probably damaging |
Het |
| Or10g1 |
T |
C |
14: 52,647,718 (GRCm39) |
T204A |
probably benign |
Het |
| Or12e13 |
T |
A |
2: 87,664,123 (GRCm39) |
C247S |
probably damaging |
Het |
| Or4c12b |
T |
A |
2: 89,647,033 (GRCm39) |
V115E |
probably benign |
Het |
| Or9s14 |
G |
T |
1: 92,536,189 (GRCm39) |
C210F |
possibly damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,880,619 (GRCm39) |
N127D |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,502,983 (GRCm39) |
I1148V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,212,430 (GRCm39) |
D1007G |
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,613,316 (GRCm39) |
E37V |
probably damaging |
Het |
| Prss45 |
C |
A |
9: 110,668,261 (GRCm39) |
N151K |
possibly damaging |
Het |
| Rngtt |
A |
T |
4: 33,498,981 (GRCm39) |
K513* |
probably null |
Het |
| Serpinb10 |
T |
C |
1: 107,460,117 (GRCm39) |
|
probably benign |
Het |
| Shc1 |
T |
C |
3: 89,334,129 (GRCm39) |
V402A |
probably benign |
Het |
| Slc25a38 |
T |
A |
9: 119,949,902 (GRCm39) |
L227Q |
probably benign |
Het |
| Slc6a13 |
A |
T |
6: 121,313,798 (GRCm39) |
K514* |
probably null |
Het |
| Sorcs3 |
T |
C |
19: 48,760,705 (GRCm39) |
V911A |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,657,651 (GRCm39) |
I1290N |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,089,292 (GRCm39) |
K657E |
possibly damaging |
Het |
| Stpg4 |
T |
A |
17: 87,735,068 (GRCm39) |
|
probably null |
Het |
| Stx2 |
A |
G |
5: 129,064,863 (GRCm39) |
V278A |
possibly damaging |
Het |
| Thoc1 |
A |
T |
18: 9,992,902 (GRCm39) |
N558I |
probably benign |
Het |
| Trpm2 |
T |
C |
10: 77,750,568 (GRCm39) |
T1343A |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,040,939 (GRCm39) |
D1806E |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,037 (GRCm39) |
M787I |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,873,566 (GRCm39) |
S248P |
|
Het |
| Zeb2 |
G |
T |
2: 44,891,829 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in L3mbtl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:L3mbtl1
|
APN |
2 |
162,808,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01090:L3mbtl1
|
APN |
2 |
162,807,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01291:L3mbtl1
|
APN |
2 |
162,812,100 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02897:L3mbtl1
|
APN |
2 |
162,807,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:L3mbtl1
|
APN |
2 |
162,812,103 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02986:L3mbtl1
|
APN |
2 |
162,812,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03057:L3mbtl1
|
APN |
2 |
162,809,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03372:L3mbtl1
|
APN |
2 |
162,813,077 (GRCm39) |
splice site |
probably benign |
|
|
ANU05:L3mbtl1
|
UTSW |
2 |
162,812,100 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0006:L3mbtl1
|
UTSW |
2 |
162,806,489 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0006:L3mbtl1
|
UTSW |
2 |
162,806,489 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0067:L3mbtl1
|
UTSW |
2 |
162,790,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:L3mbtl1
|
UTSW |
2 |
162,790,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:L3mbtl1
|
UTSW |
2 |
162,789,146 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0505:L3mbtl1
|
UTSW |
2 |
162,789,255 (GRCm39) |
splice site |
probably benign |
|
|
R0748:L3mbtl1
|
UTSW |
2 |
162,813,084 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0748:L3mbtl1
|
UTSW |
2 |
162,813,083 (GRCm39) |
splice site |
probably benign |
|
|
R0761:L3mbtl1
|
UTSW |
2 |
162,807,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:L3mbtl1
|
UTSW |
2 |
162,816,422 (GRCm39) |
missense |
probably benign |
|
|
R1970:L3mbtl1
|
UTSW |
2 |
162,801,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:L3mbtl1
|
UTSW |
2 |
162,801,990 (GRCm39) |
splice site |
probably null |
|
|
R2115:L3mbtl1
|
UTSW |
2 |
162,801,990 (GRCm39) |
splice site |
probably null |
|
|
R2116:L3mbtl1
|
UTSW |
2 |
162,801,990 (GRCm39) |
splice site |
probably null |
|
|
R2117:L3mbtl1
|
UTSW |
2 |
162,801,990 (GRCm39) |
splice site |
probably null |
|
|
R2513:L3mbtl1
|
UTSW |
2 |
162,809,505 (GRCm39) |
missense |
probably benign |
|
|
R3848:L3mbtl1
|
UTSW |
2 |
162,790,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4877:L3mbtl1
|
UTSW |
2 |
162,790,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4930:L3mbtl1
|
UTSW |
2 |
162,807,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:L3mbtl1
|
UTSW |
2 |
162,809,256 (GRCm39) |
small deletion |
probably benign |
|
|
R5932:L3mbtl1
|
UTSW |
2 |
162,809,256 (GRCm39) |
small deletion |
probably benign |
|
|
R6562:L3mbtl1
|
UTSW |
2 |
162,812,124 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6601:L3mbtl1
|
UTSW |
2 |
162,790,095 (GRCm39) |
start gained |
probably benign |
|
|
R6995:L3mbtl1
|
UTSW |
2 |
162,803,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7188:L3mbtl1
|
UTSW |
2 |
162,791,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7346:L3mbtl1
|
UTSW |
2 |
162,808,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7474:L3mbtl1
|
UTSW |
2 |
162,808,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:L3mbtl1
|
UTSW |
2 |
162,790,151 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7599:L3mbtl1
|
UTSW |
2 |
162,806,434 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8745:L3mbtl1
|
UTSW |
2 |
162,812,137 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8910:L3mbtl1
|
UTSW |
2 |
162,812,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9039:L3mbtl1
|
UTSW |
2 |
162,807,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:L3mbtl1
|
UTSW |
2 |
162,806,972 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9253:L3mbtl1
|
UTSW |
2 |
162,789,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9483:L3mbtl1
|
UTSW |
2 |
162,790,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9509:L3mbtl1
|
UTSW |
2 |
162,809,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:L3mbtl1
|
UTSW |
2 |
162,812,228 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9688:L3mbtl1
|
UTSW |
2 |
162,790,697 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTATGGAGAGAACCCACC -3'
(R):5'- TCAGAGGGGAGCTGTATCAG -3'
Sequencing Primer
(F):5'- CTTGCACTCAGTACTCAGGGAG -3'
(R):5'- AGAGGCTGTCCTGCATTTAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation