Incidental Mutation 'R8863:L3mbtl4'
ID |
675791 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
L3mbtl4
|
Ensembl Gene |
ENSMUSG00000041565 |
Gene Name |
L3MBTL4 histone methyl-lysine binding protein |
Synonyms |
D930040M24Rik, A730037L19Rik |
MMRRC Submission |
068679-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8863 (G1)
|
Quality Score |
190.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
68580792-69087081 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 68986419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 488
(C488S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093007]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093007
AA Change: C488S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000094892 Gene: ENSMUSG00000041565 AA Change: C488S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
G |
7: 127,836,123 (GRCm39) |
S157P |
possibly damaging |
Het |
Aasdhppt |
C |
A |
9: 4,309,424 (GRCm39) |
A5S |
possibly damaging |
Het |
Aoc1l2 |
T |
C |
6: 48,907,042 (GRCm39) |
L14P |
probably benign |
Het |
Asb16 |
T |
C |
11: 102,168,058 (GRCm39) |
Y373H |
probably damaging |
Het |
Axin1 |
T |
C |
17: 26,362,375 (GRCm39) |
S240P |
probably benign |
Het |
C2cd5 |
T |
C |
6: 142,987,088 (GRCm39) |
I505V |
possibly damaging |
Het |
Camk2g |
A |
G |
14: 20,810,244 (GRCm39) |
L305P |
probably damaging |
Het |
Ccm2 |
A |
G |
11: 6,535,211 (GRCm39) |
K156E |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,212,613 (GRCm39) |
Y1600* |
probably null |
Het |
Cyp2c29 |
A |
G |
19: 39,261,810 (GRCm39) |
Q16R |
probably benign |
Het |
Ebf1 |
T |
A |
11: 44,774,666 (GRCm39) |
V221E |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,831,006 (GRCm39) |
D73G |
probably damaging |
Het |
Gtpbp1 |
A |
G |
15: 79,591,262 (GRCm39) |
E125G |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Igfbp3 |
A |
G |
11: 7,163,568 (GRCm39) |
C75R |
probably damaging |
Het |
Itgb4 |
T |
A |
11: 115,875,898 (GRCm39) |
C478* |
probably null |
Het |
Lysmd4 |
T |
C |
7: 66,873,493 (GRCm39) |
S43P |
probably damaging |
Het |
Mocs2 |
A |
G |
13: 114,962,815 (GRCm39) |
K167E |
probably damaging |
Het |
Mpl |
C |
A |
4: 118,314,602 (GRCm39) |
V23F |
|
Het |
Muc4 |
A |
T |
16: 32,570,280 (GRCm39) |
I447F |
possibly damaging |
Het |
Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
Ncf2 |
A |
G |
1: 152,711,864 (GRCm39) |
*526W |
probably null |
Het |
Oas1a |
C |
T |
5: 121,043,943 (GRCm39) |
G63D |
probably damaging |
Het |
Or2q1 |
A |
T |
6: 42,794,780 (GRCm39) |
Y125F |
probably damaging |
Het |
Or5ac15 |
G |
T |
16: 58,939,712 (GRCm39) |
C240* |
probably null |
Het |
Or8c17 |
T |
C |
9: 38,180,655 (GRCm39) |
V274A |
probably damaging |
Het |
Piwil4 |
T |
C |
9: 14,631,383 (GRCm39) |
N409S |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,433,382 (GRCm39) |
Q3421* |
probably null |
Het |
Plekha7 |
T |
A |
7: 115,753,875 (GRCm39) |
D664V |
probably damaging |
Het |
Pole |
T |
C |
5: 110,437,233 (GRCm39) |
M66T |
possibly damaging |
Het |
Pon2 |
C |
T |
6: 5,265,480 (GRCm39) |
|
probably null |
Het |
Pop4 |
G |
A |
7: 37,962,649 (GRCm39) |
A205V |
possibly damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,521,030 (GRCm39) |
E590D |
probably damaging |
Het |
Ptpn6 |
T |
A |
6: 124,709,309 (GRCm39) |
I96F |
probably damaging |
Het |
Rfk |
T |
A |
19: 17,372,590 (GRCm39) |
N37K |
probably benign |
Het |
Syne1 |
G |
T |
10: 5,049,527 (GRCm39) |
Q7535K |
probably damaging |
Het |
Tcf15 |
A |
T |
2: 151,986,023 (GRCm39) |
I160F |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmem160 |
T |
C |
7: 16,186,889 (GRCm39) |
M1T |
probably null |
Het |
Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
Trnt1 |
T |
C |
6: 106,751,443 (GRCm39) |
F140S |
probably damaging |
Het |
Ttf1 |
T |
C |
2: 28,969,492 (GRCm39) |
|
probably null |
Het |
Vmn1r172 |
A |
T |
7: 23,359,210 (GRCm39) |
I32F |
probably benign |
Het |
Vwc2l |
T |
A |
1: 70,768,063 (GRCm39) |
N42K |
possibly 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 |
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 |
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'- CCACAAGATATCTGCAGGAAAGTG -3'
(R):5'- GACTGGGTTGCAGTCCTTAC -3'
Sequencing Primer
(F):5'- GGCTGTGAATATTTAAGACCTATGG -3'
(R):5'- GCAGTCCTTACGCTATTTTGAAC -3'
|
Posted On |
2021-07-15 |