Incidental Mutation 'R6708:L3mbtl4'
ID |
529026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
L3mbtl4
|
Ensembl Gene |
ENSMUSG00000041565 |
Gene Name |
L3MBTL4 histone methyl-lysine binding protein |
Synonyms |
D930040M24Rik, A730037L19Rik |
MMRRC Submission |
044826-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6708 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
68580792-69087081 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 68937253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 425
(T425S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093007]
[ENSMUST00000124543]
[ENSMUST00000139383]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093007
AA Change: T425S
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000094892 Gene: ENSMUSG00000041565 AA Change: T425S
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124543
AA Change: T425S
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000121045 Gene: ENSMUSG00000041565 AA Change: T425S
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
|
376 |
407 |
3.3e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139383
|
SMART Domains |
Protein: ENSMUSP00000117626 Gene: ENSMUSG00000041565
Domain | Start | End | E-Value | Type |
MBT
|
52 |
152 |
2.24e-46 |
SMART |
MBT
|
160 |
260 |
6.29e-41 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
T |
C |
8: 41,249,531 (GRCm39) |
L547P |
probably damaging |
Het |
Atp8b5 |
T |
G |
4: 43,334,249 (GRCm39) |
H338Q |
probably benign |
Het |
Btbd3 |
A |
G |
2: 138,125,491 (GRCm39) |
E225G |
possibly damaging |
Het |
Cd163 |
A |
G |
6: 124,286,167 (GRCm39) |
H239R |
probably damaging |
Het |
Cdh15 |
T |
C |
8: 123,590,294 (GRCm39) |
I409T |
probably benign |
Het |
Cep55 |
T |
A |
19: 38,048,709 (GRCm39) |
S122T |
probably benign |
Het |
Col5a3 |
G |
A |
9: 20,686,331 (GRCm39) |
P1382L |
unknown |
Het |
Ehmt2 |
A |
T |
17: 35,118,875 (GRCm39) |
K186* |
probably null |
Het |
Elavl2 |
A |
T |
4: 91,141,634 (GRCm39) |
I295N |
probably damaging |
Het |
Elf5 |
A |
G |
2: 103,279,334 (GRCm39) |
D185G |
probably damaging |
Het |
Emx1 |
A |
G |
6: 85,171,122 (GRCm39) |
E175G |
probably damaging |
Het |
Fan1 |
T |
G |
7: 64,022,554 (GRCm39) |
N233T |
probably benign |
Het |
Frem2 |
T |
A |
3: 53,492,922 (GRCm39) |
I1865F |
probably benign |
Het |
Kcnu1 |
A |
G |
8: 26,427,739 (GRCm39) |
D352G |
probably benign |
Het |
Klhdc1 |
A |
T |
12: 69,306,304 (GRCm39) |
H247L |
possibly damaging |
Het |
Mrpl21 |
T |
C |
19: 3,336,890 (GRCm39) |
V87A |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,014,103 (GRCm39) |
M1K |
probably null |
Het |
Or5ac21 |
T |
A |
16: 59,124,416 (GRCm39) |
L301Q |
probably damaging |
Het |
Or6c215 |
G |
T |
10: 129,637,689 (GRCm39) |
A235D |
probably damaging |
Het |
Orc4 |
A |
T |
2: 48,827,505 (GRCm39) |
H29Q |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,587,692 (GRCm39) |
|
probably null |
Het |
Pogk |
A |
G |
1: 166,231,078 (GRCm39) |
V83A |
probably damaging |
Het |
Synm |
T |
C |
7: 67,382,994 (GRCm39) |
E1556G |
possibly damaging |
Het |
Tmem109 |
C |
A |
19: 10,849,395 (GRCm39) |
L153F |
probably damaging |
Het |
Ttc8 |
A |
G |
12: 98,909,791 (GRCm39) |
T74A |
probably damaging |
Het |
Zfp180 |
A |
T |
7: 23,805,521 (GRCm39) |
T647S |
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 |
R6853:L3mbtl4
|
UTSW |
17 |
69,084,915 (GRCm39) |
missense |
probably damaging |
0.97 |
R6905:L3mbtl4
|
UTSW |
17 |
69,084,883 (GRCm39) |
missense |
probably benign |
0.05 |
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'- GTGTGGAAGGAAACTATTAGCGTC -3'
(R):5'- CTTGGCAAAATCAAAGGAACTAGC -3'
Sequencing Primer
(F):5'- TGGAAGGAAACTATTAGCGTCTATAC -3'
(R):5'- CTGCACTGACTGTTTGCA -3'
|
Posted On |
2018-07-24 |