Incidental Mutation 'R0842:L3mbtl4'
| ID |
77236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L3mbtl4
|
| Ensembl Gene |
ENSMUSG00000041565 |
| Gene Name |
L3MBTL4 histone methyl-lysine binding protein |
| Synonyms |
D930040M24Rik, A730037L19Rik |
| MMRRC Submission |
039021-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0842 (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 A
at 68793957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 320
(D320E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094892
(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: D320E
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: D320E
| 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: D320E
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000121045
Gene: ENSMUSG00000041565
AA Change: D320E
| 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: C292S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000117626
Gene: ENSMUSG00000041565
AA Change: C292S
| Domain | Start | End | E-Value | Type |
|---|
|
MBT
|
52 |
152 |
2.24e-46 |
SMART |
|
MBT
|
160 |
260 |
6.29e-41 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl8 |
C |
A |
9: 21,746,972 (GRCm39) |
Y53* |
probably null |
Het |
| Apbb1ip |
G |
A |
2: 22,757,678 (GRCm39) |
R432Q |
possibly damaging |
Het |
| Catsperb |
A |
T |
12: 101,429,307 (GRCm39) |
Q160L |
probably damaging |
Het |
| Cdhr18 |
G |
A |
14: 13,856,686 (GRCm38) |
S475L |
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,335,768 (GRCm39) |
Y410C |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,369,953 (GRCm39) |
G857S |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,125,400 (GRCm39) |
V1538E |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,540,833 (GRCm39) |
S2514P |
possibly damaging |
Het |
| Eme1 |
C |
T |
11: 94,541,700 (GRCm39) |
A41T |
probably benign |
Het |
| F11 |
T |
C |
8: 45,705,196 (GRCm39) |
Y115C |
probably damaging |
Het |
| Fap |
A |
T |
2: 62,367,345 (GRCm39) |
W313R |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Ggt6 |
T |
A |
11: 72,328,088 (GRCm39) |
L158* |
probably null |
Het |
| Herc2 |
A |
C |
7: 55,771,453 (GRCm39) |
I1072L |
probably benign |
Het |
| Hhat |
T |
C |
1: 192,408,639 (GRCm39) |
N164S |
probably benign |
Het |
| Klrb1 |
A |
G |
6: 128,687,008 (GRCm39) |
|
probably null |
Het |
| Lyst |
C |
A |
13: 13,852,826 (GRCm39) |
Y2275* |
probably null |
Het |
| Map4k3 |
T |
C |
17: 80,913,412 (GRCm39) |
N611S |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,670,284 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
C |
13: 12,215,133 (GRCm39) |
Y864D |
probably damaging |
Het |
| Myh2 |
C |
T |
11: 67,070,350 (GRCm39) |
A431V |
possibly damaging |
Het |
| Myo9a |
C |
A |
9: 59,778,350 (GRCm39) |
Q1369K |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,820,114 (GRCm39) |
D302V |
probably benign |
Het |
| Nat3 |
T |
C |
8: 68,000,649 (GRCm39) |
I176T |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,948,380 (GRCm39) |
T54I |
probably benign |
Het |
| Nfyc |
C |
A |
4: 120,616,574 (GRCm39) |
E281D |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,782,342 (GRCm39) |
D513G |
probably benign |
Het |
| Pacsin2 |
T |
C |
15: 83,263,382 (GRCm39) |
E83G |
probably damaging |
Het |
| Plagl1 |
G |
T |
10: 13,004,298 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,953,772 (GRCm39) |
L340P |
possibly damaging |
Het |
| Pou2af3 |
T |
C |
9: 51,183,668 (GRCm39) |
E102G |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 24,796,355 (GRCm39) |
L364Q |
probably damaging |
Het |
| Rab1b |
A |
T |
19: 5,154,697 (GRCm39) |
I84N |
probably damaging |
Het |
| Ric3 |
T |
C |
7: 108,638,087 (GRCm39) |
Y222C |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 156,965,251 (GRCm39) |
V188A |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,527,426 (GRCm39) |
H107Q |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,575 (GRCm39) |
I335K |
possibly damaging |
Het |
| Thoc2l |
T |
A |
5: 104,667,066 (GRCm39) |
N529K |
possibly damaging |
Het |
| Thop1 |
C |
A |
10: 80,911,411 (GRCm39) |
T99K |
probably damaging |
Het |
| Tnik |
A |
G |
3: 28,648,235 (GRCm39) |
E429G |
possibly damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,488,465 (GRCm39) |
I645F |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 120,991,960 (GRCm39) |
R609S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACGACCATGATGCTGGAAC -3'
(R):5'- GCTGAAGTCAGTCAAGGCTACATCC -3'
Sequencing Primer
(F):5'- AACAGTGACCTGGCTTGC -3'
(R):5'- GTCAGTCAAGGCTACATCCATAATG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation