Incidental Mutation 'IGL02817:L3mbtl4'
| ID |
360852 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02817
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
68580792-69087081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68937249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 423
(E423D)
|
| 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: E423D
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: E423D
| 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: E423D
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121045
Gene: ENSMUSG00000041565
AA Change: E423D
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI182371 |
A |
G |
2: 34,990,661 (GRCm39) |
V12A |
probably damaging |
Het |
| Ash1l |
C |
A |
3: 88,892,108 (GRCm39) |
P1329H |
probably damaging |
Het |
| Bpifb3 |
T |
C |
2: 153,761,566 (GRCm39) |
V5A |
unknown |
Het |
| Cep350 |
A |
G |
1: 155,804,588 (GRCm39) |
S832P |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,969,762 (GRCm39) |
H947L |
possibly damaging |
Het |
| Clec4b1 |
A |
T |
6: 123,045,444 (GRCm39) |
H88L |
possibly damaging |
Het |
| Col4a1 |
A |
G |
8: 11,270,259 (GRCm39) |
L859P |
probably damaging |
Het |
| Cyp2f2 |
T |
A |
7: 26,828,740 (GRCm39) |
N203K |
probably damaging |
Het |
| Dgka |
G |
A |
10: 128,566,097 (GRCm39) |
T351I |
probably benign |
Het |
| Dmc1 |
G |
A |
15: 79,472,964 (GRCm39) |
T161I |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,887,269 (GRCm39) |
N688D |
probably benign |
Het |
| Dpy19l3 |
A |
G |
7: 35,392,233 (GRCm39) |
L653P |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,275,062 (GRCm39) |
E341G |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,343,220 (GRCm39) |
V10G |
probably benign |
Het |
| Fgfr4 |
T |
C |
13: 55,304,481 (GRCm39) |
|
probably null |
Het |
| Gli2 |
T |
C |
1: 118,764,101 (GRCm39) |
H1350R |
possibly damaging |
Het |
| Gm3248 |
A |
G |
14: 5,945,825 (GRCm38) |
S30P |
probably benign |
Het |
| Grik4 |
T |
C |
9: 42,534,235 (GRCm39) |
N349S |
probably benign |
Het |
| Ifnar2 |
G |
T |
16: 91,184,880 (GRCm39) |
K90N |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,496,968 (GRCm39) |
I547N |
probably damaging |
Het |
| Mapkap1 |
T |
C |
2: 34,453,130 (GRCm39) |
L341P |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 118,000,251 (GRCm39) |
Q618R |
possibly damaging |
Het |
| Medag |
A |
T |
5: 149,350,503 (GRCm39) |
R51* |
probably null |
Het |
| Myo1f |
G |
A |
17: 33,823,532 (GRCm39) |
R1020K |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,202,816 (GRCm39) |
N153D |
probably benign |
Het |
| Naf1 |
T |
C |
8: 67,336,177 (GRCm39) |
I368T |
probably damaging |
Het |
| Nalf1 |
A |
T |
8: 9,257,994 (GRCm39) |
C385S |
probably damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,147,877 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
T |
A |
2: 151,342,651 (GRCm39) |
S74T |
probably damaging |
Het |
| Or2a51 |
A |
T |
6: 43,178,993 (GRCm39) |
R138S |
probably benign |
Het |
| Or6c68 |
A |
G |
10: 129,157,764 (GRCm39) |
T91A |
probably benign |
Het |
| Or8h7 |
T |
C |
2: 86,720,937 (GRCm39) |
N194S |
probably benign |
Het |
| Ptgfrn |
T |
A |
3: 100,968,068 (GRCm39) |
E508D |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,674,968 (GRCm39) |
|
probably null |
Het |
| Snx27 |
A |
G |
3: 94,410,770 (GRCm39) |
L460P |
probably damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,287 (GRCm39) |
T253K |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,902,967 (GRCm39) |
I165V |
probably benign |
Het |
| Txnl4b |
A |
G |
8: 110,299,478 (GRCm39) |
Y146C |
probably damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,518 (GRCm39) |
M17T |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,993,406 (GRCm39) |
I567V |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation