Incidental Mutation 'R5402:L3mbtl4'
ID |
430077 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
L3mbtl4
|
Ensembl Gene |
ENSMUSG00000041565 |
Gene Name |
L3MBTL4 histone methyl-lysine binding protein |
Synonyms |
D930040M24Rik, A730037L19Rik |
MMRRC Submission |
042973-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5402 (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 68762769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 101
(F101L)
|
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 damaging
Transcript: ENSMUST00000093007
AA Change: F101L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000094892 Gene: ENSMUSG00000041565 AA Change: F101L
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 damaging
Transcript: ENSMUST00000124543
AA Change: F101L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000121045 Gene: ENSMUSG00000041565 AA Change: F101L
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 |
possibly damaging
Transcript: ENSMUST00000139383
AA Change: F101L
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117626 Gene: ENSMUSG00000041565 AA Change: F101L
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: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,607,834 (GRCm39) |
D4079E |
probably benign |
Het |
Bcar1 |
T |
C |
8: 112,440,962 (GRCm39) |
D344G |
probably damaging |
Het |
Car9 |
A |
G |
4: 43,510,213 (GRCm39) |
N265S |
probably damaging |
Het |
Ccr7 |
A |
G |
11: 99,036,560 (GRCm39) |
S121P |
possibly damaging |
Het |
Cgnl1 |
A |
G |
9: 71,536,603 (GRCm39) |
L1278P |
probably damaging |
Het |
Chst9 |
A |
T |
18: 15,585,872 (GRCm39) |
S230R |
probably damaging |
Het |
Cped1 |
G |
A |
6: 22,143,951 (GRCm39) |
V566M |
probably benign |
Het |
Csf2 |
A |
T |
11: 54,138,489 (GRCm39) |
Y117* |
probably null |
Het |
Cwf19l1 |
C |
T |
19: 44,121,524 (GRCm39) |
|
probably null |
Het |
Cyp2d34 |
C |
T |
15: 82,503,287 (GRCm39) |
G69D |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,114,949 (GRCm39) |
V170E |
probably damaging |
Het |
Ehbp1l1 |
T |
A |
19: 5,766,348 (GRCm39) |
T388S |
possibly damaging |
Het |
Etfa |
T |
C |
9: 55,362,023 (GRCm39) |
I329M |
probably benign |
Het |
Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
Fmnl2 |
G |
A |
2: 53,018,794 (GRCm39) |
V1078I |
probably damaging |
Het |
Fnip2 |
A |
G |
3: 79,388,250 (GRCm39) |
L797P |
possibly damaging |
Het |
Gmeb2 |
A |
T |
2: 180,897,750 (GRCm39) |
|
probably null |
Het |
Greb1l |
A |
G |
18: 10,537,169 (GRCm39) |
T1045A |
probably benign |
Het |
Hapln1 |
A |
G |
13: 89,753,530 (GRCm39) |
N232S |
probably benign |
Het |
Hibadh |
A |
T |
6: 52,523,965 (GRCm39) |
M311K |
probably benign |
Het |
Hus1 |
C |
T |
11: 8,960,240 (GRCm39) |
|
probably null |
Het |
Il31ra |
T |
C |
13: 112,660,669 (GRCm39) |
E640G |
probably benign |
Het |
Lbr |
A |
T |
1: 181,647,526 (GRCm39) |
M417K |
probably benign |
Het |
Lrig3 |
T |
G |
10: 125,844,609 (GRCm39) |
L691R |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,319,148 (GRCm39) |
F792Y |
probably benign |
Het |
Mst1 |
T |
C |
9: 107,961,408 (GRCm39) |
|
probably null |
Het |
Nova2 |
C |
A |
7: 18,692,371 (GRCm39) |
T500K |
probably damaging |
Het |
Nxph4 |
A |
T |
10: 127,362,133 (GRCm39) |
C253S |
probably damaging |
Het |
Or2t1 |
T |
C |
14: 14,328,878 (GRCm38) |
Y256H |
probably damaging |
Het |
Or4s2b |
T |
A |
2: 88,508,492 (GRCm39) |
S98T |
possibly damaging |
Het |
Pcdhga3 |
G |
A |
18: 37,808,747 (GRCm39) |
R400Q |
probably benign |
Het |
Pidd1 |
C |
A |
7: 141,018,507 (GRCm39) |
A915S |
probably damaging |
Het |
Plat |
T |
G |
8: 23,262,738 (GRCm39) |
W148G |
probably damaging |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Pramel27 |
G |
A |
4: 143,578,225 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
A |
G |
13: 67,081,663 (GRCm39) |
D31G |
possibly damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Samd8 |
A |
G |
14: 21,825,236 (GRCm39) |
D64G |
probably damaging |
Het |
Scgb1b20 |
A |
G |
7: 33,072,656 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc25a23 |
T |
C |
17: 57,360,336 (GRCm39) |
I269V |
probably benign |
Het |
Slc35f4 |
A |
T |
14: 49,556,331 (GRCm39) |
S141T |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,621,665 (GRCm39) |
M966V |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,106,213 (GRCm39) |
V5526E |
probably damaging |
Het |
Tcaf3 |
A |
G |
6: 42,568,860 (GRCm39) |
S596P |
probably benign |
Het |
Tg |
T |
A |
15: 66,611,017 (GRCm39) |
I356N |
probably damaging |
Het |
Ttc6 |
C |
T |
12: 57,783,817 (GRCm39) |
R1759* |
probably null |
Het |
Wdsub1 |
T |
C |
2: 59,700,822 (GRCm39) |
N138D |
probably benign |
Het |
Zfp1001 |
A |
G |
2: 150,204,886 (GRCm39) |
I67V |
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 |
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 |
|
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'- AAATTTCTGTTACCTGACTTTTGGC -3'
(R):5'- TGAATACGAGTTGACGAAAACTTAC -3'
Sequencing Primer
(F):5'- CTACAGCCTTGAATCTTTGAGTAG -3'
(R):5'- GCTGGGACTCACTTATGA -3'
|
Posted On |
2016-09-06 |