Incidental Mutation 'IGL02543:L3mbtl4'
| ID |
298314 |
| 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 # |
IGL02543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
68580792-69087081 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 68768607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093007]
[ENSMUST00000124543]
[ENSMUST00000139383]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093007
|
| SMART Domains |
Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121045
Gene: ENSMUSG00000041565
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150573
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,495 (GRCm39) |
A193S |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,006,627 (GRCm39) |
T1069A |
probably benign |
Het |
| Arg2 |
A |
T |
12: 79,197,533 (GRCm39) |
I184F |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,942,113 (GRCm39) |
P63S |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,883,634 (GRCm39) |
H85R |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,291,413 (GRCm39) |
|
probably null |
Het |
| Cog2 |
A |
G |
8: 125,256,698 (GRCm39) |
N148S |
probably benign |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,720 (GRCm39) |
T162A |
probably damaging |
Het |
| Ddi1 |
C |
T |
9: 6,266,183 (GRCm39) |
G62D |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 70,878,066 (GRCm39) |
Y435C |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,098,885 (GRCm39) |
C765S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,722,529 (GRCm39) |
D362E |
probably benign |
Het |
| Gm28040 |
A |
T |
1: 133,247,069 (GRCm39) |
I26F |
possibly damaging |
Het |
| Gm28778 |
T |
C |
1: 53,338,202 (GRCm39) |
M22T |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,303 (GRCm39) |
E98G |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,680,436 (GRCm39) |
I968T |
possibly damaging |
Het |
| Hlx |
T |
G |
1: 184,462,948 (GRCm39) |
S235R |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,933,867 (GRCm39) |
|
probably benign |
Het |
| Kdr |
A |
G |
5: 76,125,607 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,166,685 (GRCm39) |
E435G |
probably damaging |
Het |
| Large1 |
T |
A |
8: 73,775,042 (GRCm39) |
M223L |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,760,413 (GRCm39) |
K2838E |
possibly damaging |
Het |
| Ncan |
T |
C |
8: 70,561,221 (GRCm39) |
D582G |
probably benign |
Het |
| Nedd9 |
T |
C |
13: 41,470,211 (GRCm39) |
D314G |
probably damaging |
Het |
| Nip7 |
T |
C |
8: 107,784,825 (GRCm39) |
|
probably benign |
Het |
| Or10j27 |
T |
G |
1: 172,957,901 (GRCm39) |
K294N |
probably damaging |
Het |
| Or52ae9 |
A |
T |
7: 103,389,710 (GRCm39) |
C246S |
possibly damaging |
Het |
| Or7a42 |
C |
A |
10: 78,791,773 (GRCm39) |
H245N |
probably damaging |
Het |
| P3h1 |
T |
C |
4: 119,095,053 (GRCm39) |
|
probably benign |
Het |
| Pcp4l1 |
C |
T |
1: 171,003,133 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,369,330 (GRCm39) |
G118D |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 30,602,134 (GRCm39) |
D374G |
possibly damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,497 (GRCm39) |
L534P |
possibly damaging |
Het |
| Rnf123 |
A |
G |
9: 107,943,547 (GRCm39) |
S563P |
probably damaging |
Het |
| Scart1 |
A |
G |
7: 139,800,491 (GRCm39) |
M91V |
probably benign |
Het |
| Sdk2 |
A |
T |
11: 113,759,747 (GRCm39) |
I418N |
possibly damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,578,688 (GRCm39) |
I655T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,993,618 (GRCm39) |
K524R |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tbc1d22a |
C |
T |
15: 86,123,372 (GRCm39) |
A135V |
probably benign |
Het |
| Tenm3 |
A |
C |
8: 48,751,991 (GRCm39) |
W942G |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 130,092,840 (GRCm39) |
V1247I |
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,459 (GRCm39) |
T115A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,540,306 (GRCm39) |
T34227A |
probably benign |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,342 (GRCm39) |
D230V |
probably benign |
Het |
| Vmn1r203 |
G |
A |
13: 22,709,074 (GRCm39) |
G285D |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,356 (GRCm39) |
S315P |
probably benign |
Het |
| Vmn2r98 |
T |
G |
17: 19,286,083 (GRCm39) |
S194A |
probably benign |
Het |
| Wdr1 |
G |
A |
5: 38,703,165 (GRCm39) |
S137F |
probably damaging |
Het |
| Wnt7b |
C |
T |
15: 85,443,097 (GRCm39) |
|
probably benign |
Het |
| Zfp668 |
A |
T |
7: 127,467,494 (GRCm39) |
C27* |
probably null |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation