Incidental Mutation 'R2987:L3mbtl4'
| ID |
257831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L3mbtl4
|
| Ensembl Gene |
ENSMUSG00000041565 |
| Gene Name |
L3MBTL4 histone methyl-lysine binding protein |
| Synonyms |
D930040M24Rik, A730037L19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2987 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
68580792-69087081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68666513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 14
(S14P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093007]
[ENSMUST00000124543]
[ENSMUST00000139383]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093007
AA Change: S14P
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: S14P
| 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: S14P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121045
Gene: ENSMUSG00000041565
AA Change: S14P
| 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
AA Change: S14P
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000117626
Gene: ENSMUSG00000041565
AA Change: S14P
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
52 |
152 |
2.24e-46 |
SMART |
|
MBT
|
160 |
260 |
6.29e-41 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150573
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,402,358 (GRCm39) |
I557V |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,364,661 (GRCm39) |
L983* |
probably null |
Het |
| Clcn1 |
A |
G |
6: 42,275,784 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,041,306 (GRCm39) |
C1308S |
probably damaging |
Het |
| Ebna1bp2 |
A |
G |
4: 118,478,133 (GRCm39) |
D2G |
probably damaging |
Het |
| Exoc6b |
T |
A |
6: 84,828,929 (GRCm39) |
K485I |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,914,585 (GRCm39) |
E611K |
probably benign |
Het |
| Gm5901 |
A |
G |
7: 105,026,507 (GRCm39) |
I92V |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,263,763 (GRCm39) |
L753F |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,025,925 (GRCm39) |
H305R |
probably damaging |
Het |
| Nid1 |
A |
T |
13: 13,674,258 (GRCm39) |
Y879F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,749,869 (GRCm39) |
|
probably null |
Het |
| Olfml2a |
G |
A |
2: 38,837,306 (GRCm39) |
V150M |
probably damaging |
Het |
| Or51a24 |
A |
G |
7: 103,734,077 (GRCm39) |
V70A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,174,823 (GRCm39) |
D3744E |
possibly damaging |
Het |
| Pla1a |
A |
T |
16: 38,228,104 (GRCm39) |
C258S |
probably damaging |
Het |
| Plk2 |
A |
T |
13: 110,534,243 (GRCm39) |
R274S |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,875,925 (GRCm39) |
L30P |
possibly damaging |
Het |
| Synpo2 |
T |
C |
3: 122,910,622 (GRCm39) |
H341R |
probably damaging |
Het |
| Trbv12-1 |
G |
A |
6: 41,090,840 (GRCm39) |
E71K |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,067,509 (GRCm39) |
V268A |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,700 (GRCm39) |
H21Q |
probably benign |
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 |
|
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 |
|
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'- TTCACAGGACAAACTCAAGCTATTC -3'
(R):5'- TGCCCTCTGTACACATGCAC -3'
Sequencing Primer
(F):5'- CTATTCAGCAGCCTGGGGTTTC -3'
(R):5'- CATTGAGTATTTGCATGTGAAACAAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation