Incidental Mutation 'R6905:L3mbtl4'
| ID |
538754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L3mbtl4
|
| Ensembl Gene |
ENSMUSG00000041565 |
| Gene Name |
L3MBTL4 histone methyl-lysine binding protein |
| Synonyms |
D930040M24Rik, A730037L19Rik |
| MMRRC Submission |
044997-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6905 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
68580792-69087081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69084883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 598
(Y598F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093007]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093007
AA Change: Y598F
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: Y598F
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
52 |
152 |
2.24e-46 |
SMART |
|
MBT
|
160 |
260 |
6.29e-41 |
SMART |
|
MBT
|
269 |
364 |
2.8e-47 |
SMART |
|
Pfam:zf-C2HC
|
378 |
407 |
8.1e-16 |
PFAM |
|
SAM
|
540 |
607 |
5.17e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
G |
T |
1: 151,856,189 (GRCm39) |
N59K |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,394,880 (GRCm39) |
D196G |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,831,653 (GRCm39) |
F50S |
probably damaging |
Het |
| Arid4a |
C |
T |
12: 71,108,318 (GRCm39) |
A41V |
probably benign |
Het |
| Cdk11b |
A |
T |
4: 155,726,065 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
C |
A |
2: 112,309,901 (GRCm39) |
C405F |
probably benign |
Het |
| Cimip2a |
A |
G |
2: 25,110,491 (GRCm39) |
I100V |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,937,517 (GRCm39) |
|
probably null |
Het |
| Copb1 |
A |
C |
7: 113,853,125 (GRCm39) |
I24S |
probably benign |
Het |
| Ctsh |
A |
T |
9: 89,944,819 (GRCm39) |
K83N |
probably damaging |
Het |
| Dgkd |
A |
G |
1: 87,863,097 (GRCm39) |
E48G |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,972,561 (GRCm39) |
T657A |
probably benign |
Het |
| Flrt1 |
T |
A |
19: 7,072,757 (GRCm39) |
K597* |
probably null |
Het |
| Ifit1bl2 |
T |
C |
19: 34,596,990 (GRCm39) |
S209G |
possibly damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,465,089 (GRCm39) |
M1T |
probably null |
Het |
| Ighv8-12 |
T |
C |
12: 115,611,705 (GRCm39) |
Y73C |
probably benign |
Het |
| Klhl21 |
C |
A |
4: 152,094,184 (GRCm39) |
A262E |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,755,618 (GRCm39) |
K298R |
probably benign |
Het |
| Map2k2 |
A |
G |
10: 80,944,701 (GRCm39) |
D71G |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,037,357 (GRCm39) |
H752Q |
probably benign |
Het |
| Mms22l |
A |
T |
4: 24,503,107 (GRCm39) |
M200L |
probably benign |
Het |
| Mup5 |
C |
A |
4: 61,751,340 (GRCm39) |
D103Y |
possibly damaging |
Het |
| Nes |
C |
T |
3: 87,885,985 (GRCm39) |
P1371S |
probably damaging |
Het |
| Or4c10b |
A |
T |
2: 89,712,052 (GRCm39) |
D294V |
probably benign |
Het |
| Or4f14c |
A |
T |
2: 111,940,703 (GRCm39) |
M298K |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,574 (GRCm39) |
T238S |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,328,862 (GRCm39) |
I114V |
probably damaging |
Het |
| Pank3 |
T |
C |
11: 35,667,239 (GRCm39) |
Y119H |
probably benign |
Het |
| Pcdhb15 |
C |
T |
18: 37,607,748 (GRCm39) |
L327F |
possibly damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,330,336 (GRCm39) |
V78A |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,853,264 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,693,323 (GRCm39) |
V468M |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,211,973 (GRCm39) |
I428V |
probably benign |
Het |
| Rps5 |
T |
C |
7: 12,659,785 (GRCm39) |
V147A |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,495,340 (GRCm39) |
I9N |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,375,387 (GRCm39) |
F625I |
probably damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,789,230 (GRCm39) |
D196G |
probably benign |
Het |
| Slc66a1 |
A |
G |
4: 139,033,752 (GRCm39) |
|
probably null |
Het |
| Smg7 |
A |
T |
1: 152,725,757 (GRCm39) |
|
probably null |
Het |
| Stap1 |
G |
A |
5: 86,238,781 (GRCm39) |
E150K |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,315,598 (GRCm39) |
I284T |
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,202,330 (GRCm39) |
|
probably benign |
Het |
| Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
| Trav7d-4 |
G |
T |
14: 53,007,770 (GRCm39) |
A88S |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,205,926 (GRCm39) |
E207G |
probably damaging |
Het |
|
| Other mutations in L3mbtl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01626:L3mbtl4
|
APN |
17 |
68,937,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02274:L3mbtl4
|
APN |
17 |
69,071,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02304:L3mbtl4
|
APN |
17 |
68,894,180 (GRCm39) |
nonsense |
probably null |
|
|
IGL02473:L3mbtl4
|
APN |
17 |
68,866,772 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02543:L3mbtl4
|
APN |
17 |
68,768,607 (GRCm39) |
splice site |
probably benign |
|
|
IGL02706:L3mbtl4
|
APN |
17 |
68,793,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02729:L3mbtl4
|
APN |
17 |
68,791,738 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02817:L3mbtl4
|
APN |
17 |
68,937,249 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03237:L3mbtl4
|
APN |
17 |
69,084,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03371:L3mbtl4
|
APN |
17 |
68,768,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:L3mbtl4
|
UTSW |
17 |
68,732,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0389:L3mbtl4
|
UTSW |
17 |
68,762,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:L3mbtl4
|
UTSW |
17 |
69,084,907 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0598:L3mbtl4
|
UTSW |
17 |
68,766,768 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0650:L3mbtl4
|
UTSW |
17 |
69,081,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:L3mbtl4
|
UTSW |
17 |
69,081,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0842:L3mbtl4
|
UTSW |
17 |
68,793,957 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1900:L3mbtl4
|
UTSW |
17 |
68,766,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2065:L3mbtl4
|
UTSW |
17 |
68,732,687 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2173:L3mbtl4
|
UTSW |
17 |
68,894,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2987:L3mbtl4
|
UTSW |
17 |
68,666,513 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3119:L3mbtl4
|
UTSW |
17 |
68,732,669 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3153:L3mbtl4
|
UTSW |
17 |
68,764,243 (GRCm39) |
nonsense |
probably null |
|
|
R4044:L3mbtl4
|
UTSW |
17 |
69,084,909 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4579:L3mbtl4
|
UTSW |
17 |
69,071,635 (GRCm39) |
missense |
probably benign |
|
|
R4717:L3mbtl4
|
UTSW |
17 |
68,762,708 (GRCm39) |
missense |
probably null |
0.67 |
|
R4798:L3mbtl4
|
UTSW |
17 |
68,666,475 (GRCm39) |
start codon destroyed |
probably null |
0.03 |
|
R4831:L3mbtl4
|
UTSW |
17 |
68,768,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4852:L3mbtl4
|
UTSW |
17 |
68,866,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5226:L3mbtl4
|
UTSW |
17 |
69,071,717 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5402:L3mbtl4
|
UTSW |
17 |
68,762,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:L3mbtl4
|
UTSW |
17 |
69,084,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6377:L3mbtl4
|
UTSW |
17 |
69,084,918 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6708:L3mbtl4
|
UTSW |
17 |
68,937,253 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6853:L3mbtl4
|
UTSW |
17 |
69,084,915 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7018:L3mbtl4
|
UTSW |
17 |
68,793,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:L3mbtl4
|
UTSW |
17 |
68,768,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7047:L3mbtl4
|
UTSW |
17 |
68,768,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7049:L3mbtl4
|
UTSW |
17 |
68,768,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7419:L3mbtl4
|
UTSW |
17 |
68,948,537 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8271:L3mbtl4
|
UTSW |
17 |
68,793,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:L3mbtl4
|
UTSW |
17 |
68,937,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8863:L3mbtl4
|
UTSW |
17 |
68,986,419 (GRCm39) |
missense |
probably benign |
|
|
R8891:L3mbtl4
|
UTSW |
17 |
68,762,781 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8996:L3mbtl4
|
UTSW |
17 |
68,769,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9598:L3mbtl4
|
UTSW |
17 |
68,866,767 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9789:L3mbtl4
|
UTSW |
17 |
68,766,794 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0063:L3mbtl4
|
UTSW |
17 |
68,937,248 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1176:L3mbtl4
|
UTSW |
17 |
68,732,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGGCCATGAAGATTCACTG -3'
(R):5'- GCCTAAACCAGACTCTTTAAAGGG -3'
Sequencing Primer
(F):5'- TGAAGATTCACTGTCACCCTCAG -3'
(R):5'- GGGTCCTGATTAAATATTGGTACAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation