Incidental Mutation 'R5604:L3mbtl4'
| ID |
439216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L3mbtl4
|
| Ensembl Gene |
ENSMUSG00000041565 |
| Gene Name |
L3MBTL4 histone methyl-lysine binding protein |
| Synonyms |
D930040M24Rik, A730037L19Rik |
| MMRRC Submission |
043156-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5604 (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 69084917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 609
(D609E)
|
| 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: D609E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: D609E
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
A |
T |
16: 88,556,278 (GRCm39) |
N164I |
possibly damaging |
Het |
| 4933402J07Rik |
C |
A |
8: 88,295,125 (GRCm39) |
R88S |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,067,168 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,516,279 (GRCm39) |
I4406K |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,454,420 (GRCm39) |
Y412* |
probably null |
Het |
| Ahcyl2 |
C |
T |
6: 29,908,366 (GRCm39) |
H370Y |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,862,904 (GRCm39) |
Y693C |
probably damaging |
Het |
| Anapc4 |
T |
A |
5: 52,999,076 (GRCm39) |
Y129* |
probably null |
Het |
| Ankrd35 |
A |
G |
3: 96,592,215 (GRCm39) |
T834A |
probably benign |
Het |
| Antxr2 |
T |
C |
5: 98,096,169 (GRCm39) |
K372E |
probably damaging |
Het |
| Arhgef1 |
C |
T |
7: 24,612,210 (GRCm39) |
H198Y |
probably benign |
Het |
| Barhl2 |
T |
C |
5: 106,603,412 (GRCm39) |
E249G |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,957,747 (GRCm39) |
E987G |
probably benign |
Het |
| C87436 |
T |
C |
6: 86,424,337 (GRCm39) |
S290P |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,290,788 (GRCm39) |
T490M |
probably damaging |
Het |
| Cd8b1 |
T |
C |
6: 71,303,159 (GRCm39) |
V78A |
probably benign |
Het |
| Cdc25c |
A |
G |
18: 34,866,701 (GRCm39) |
Y374H |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,229,271 (GRCm39) |
R1939H |
probably benign |
Het |
| Cyp2d40 |
A |
G |
15: 82,648,256 (GRCm39) |
F19S |
probably damaging |
Het |
| Dll3 |
A |
G |
7: 27,994,057 (GRCm39) |
V460A |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| E4f1 |
A |
G |
17: 24,663,118 (GRCm39) |
I729T |
probably damaging |
Het |
| Endou |
A |
C |
15: 97,618,800 (GRCm39) |
S75A |
probably benign |
Het |
| Epas1 |
C |
T |
17: 87,113,200 (GRCm39) |
H129Y |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,622,479 (GRCm39) |
N415Y |
probably damaging |
Het |
| Hdc |
A |
T |
2: 126,436,583 (GRCm39) |
S429R |
probably benign |
Het |
| Hnf4g |
C |
T |
3: 3,722,186 (GRCm39) |
Q447* |
probably null |
Het |
| Htr6 |
C |
T |
4: 138,788,814 (GRCm39) |
A414T |
probably benign |
Het |
| Insig1 |
T |
C |
5: 28,280,080 (GRCm39) |
L224P |
probably damaging |
Het |
| Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
| Irak2 |
T |
A |
6: 113,667,792 (GRCm39) |
S458T |
possibly damaging |
Het |
| Irs2 |
A |
G |
8: 11,055,007 (GRCm39) |
S1142P |
possibly damaging |
Het |
| Kirrel1 |
T |
A |
3: 86,996,462 (GRCm39) |
N379I |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,572,405 (GRCm39) |
T537A |
probably benign |
Het |
| Lce1i |
A |
T |
3: 92,685,056 (GRCm39) |
V40E |
unknown |
Het |
| Mprip |
T |
A |
11: 59,649,293 (GRCm39) |
V999D |
probably benign |
Het |
| Myd88 |
G |
T |
9: 119,168,829 (GRCm39) |
T85K |
possibly damaging |
Het |
| Or1e35 |
T |
A |
11: 73,797,853 (GRCm39) |
H155L |
probably benign |
Het |
| Padi6 |
A |
T |
4: 140,458,473 (GRCm39) |
M473K |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,401,935 (GRCm39) |
S97C |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,783,877 (GRCm39) |
D2026V |
probably damaging |
Het |
| Plcxd1 |
T |
C |
5: 110,250,451 (GRCm39) |
V264A |
probably benign |
Het |
| Plekha4 |
T |
C |
7: 45,198,580 (GRCm39) |
S558P |
probably damaging |
Het |
| Ppm1a |
T |
A |
12: 72,837,455 (GRCm39) |
M334K |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,109,524 (GRCm39) |
S684P |
possibly damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Prl2a1 |
T |
C |
13: 27,990,369 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,672,936 (GRCm39) |
K753E |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,436,502 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,271,201 (GRCm39) |
R373C |
probably benign |
Het |
| Rtn4 |
C |
A |
11: 29,658,140 (GRCm39) |
L765I |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,523,487 (GRCm39) |
|
probably null |
Het |
| Setd2 |
T |
A |
9: 110,433,284 (GRCm39) |
D62E |
probably damaging |
Het |
| Ss18 |
A |
T |
18: 14,769,577 (GRCm39) |
Y327N |
unknown |
Het |
| Ticam1 |
G |
A |
17: 56,578,756 (GRCm39) |
T113I |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,773,459 (GRCm39) |
I1134V |
probably damaging |
Het |
| Top3b |
T |
G |
16: 16,707,399 (GRCm39) |
Y526* |
probably null |
Het |
| Tph2 |
T |
C |
10: 114,926,614 (GRCm39) |
E384G |
probably damaging |
Het |
| Ttll11 |
A |
T |
2: 35,707,798 (GRCm39) |
I503N |
probably benign |
Het |
| Zfp87 |
T |
G |
13: 67,665,945 (GRCm39) |
K172N |
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 |
|
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 |
|
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'- ACGAGGCCATGAAGATTCAC -3'
(R):5'- GCCTAAACCAGACTCTTTAAAGGG -3'
Sequencing Primer
(F):5'- CTGCTACTGCTGGATAAACAGATTCC -3'
(R):5'- GGGTCCTGATTAAATATTGGTACAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation