Incidental Mutation 'R7018:L3mbtl4'
| ID |
545474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
L3mbtl4
|
| Ensembl Gene |
ENSMUSG00000041565 |
| Gene Name |
L3MBTL4 histone methyl-lysine binding protein |
| Synonyms |
D930040M24Rik, A730037L19Rik |
| MMRRC Submission |
045119-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7018 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
68580792-69087081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 68793938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 314
(R314H)
|
| 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: R314H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094892
Gene: ENSMUSG00000041565
AA Change: R314H
| 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: R314H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121045
Gene: ENSMUSG00000041565
AA Change: R314H
| 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 |
silent
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apcdd1 |
G |
T |
18: 63,070,120 (GRCm39) |
R129L |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,101,943 (GRCm39) |
V844I |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,265,665 (GRCm39) |
V1569A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,748,747 (GRCm39) |
S431T |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,360,953 (GRCm39) |
D795G |
possibly damaging |
Het |
| Crygf |
T |
C |
1: 65,967,130 (GRCm39) |
S85P |
probably benign |
Het |
| Dip2c |
T |
A |
13: 9,709,314 (GRCm39) |
Y1385N |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,454,509 (GRCm39) |
V840I |
possibly damaging |
Het |
| Dsg1a |
T |
C |
18: 20,461,795 (GRCm39) |
F299L |
possibly damaging |
Het |
| Fgfr4 |
A |
T |
13: 55,314,013 (GRCm39) |
S576C |
probably damaging |
Het |
| Frmd8 |
T |
C |
19: 5,919,546 (GRCm39) |
D167G |
probably damaging |
Het |
| Gm5105 |
G |
A |
3: 137,755,319 (GRCm39) |
T89I |
unknown |
Het |
| Grhl1 |
C |
T |
12: 24,625,996 (GRCm39) |
S35L |
possibly damaging |
Het |
| Gsn |
A |
G |
2: 35,183,518 (GRCm39) |
E242G |
probably benign |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,661 (GRCm39) |
I140T |
probably damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,431,135 (GRCm39) |
Y208H |
possibly damaging |
Het |
| Ighv1-58 |
T |
C |
12: 115,275,985 (GRCm39) |
Y51C |
probably damaging |
Het |
| Iqcj |
T |
A |
3: 67,948,580 (GRCm39) |
Y21* |
probably null |
Het |
| Kcnc4 |
T |
C |
3: 107,366,178 (GRCm39) |
Y10C |
probably benign |
Het |
| Kcnk7 |
G |
T |
19: 5,756,160 (GRCm39) |
G129W |
probably damaging |
Het |
| Kcnq2 |
T |
A |
2: 180,723,517 (GRCm39) |
R620* |
probably null |
Het |
| Klk13 |
C |
A |
7: 43,376,126 (GRCm39) |
P267Q |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lamc2 |
T |
A |
1: 153,012,488 (GRCm39) |
M729L |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,918,044 (GRCm39) |
|
probably null |
Het |
| Med13l |
G |
A |
5: 118,890,051 (GRCm39) |
R1909H |
probably damaging |
Het |
| Mstn |
T |
A |
1: 53,103,243 (GRCm39) |
L193Q |
possibly damaging |
Het |
| Mylk |
T |
C |
16: 34,820,796 (GRCm39) |
V125A |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,647,233 (GRCm39) |
M547L |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,952,785 (GRCm39) |
S1256P |
probably damaging |
Het |
| Nkain1 |
T |
C |
4: 130,532,118 (GRCm38) |
Y189C |
probably damaging |
Het |
| Oosp3 |
T |
A |
19: 11,676,783 (GRCm39) |
D47E |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,393 (GRCm39) |
I174N |
probably damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,600 (GRCm39) |
I227F |
probably benign |
Het |
| Or5h25 |
A |
G |
16: 58,930,970 (GRCm39) |
M1T |
probably null |
Het |
| Or5p66 |
T |
G |
7: 107,885,551 (GRCm39) |
I261L |
probably benign |
Het |
| Pcdh15 |
G |
T |
10: 74,302,186 (GRCm39) |
G942W |
probably damaging |
Het |
| Pcyox1l |
C |
A |
18: 61,840,625 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,711,838 (GRCm39) |
E1128G |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plscr1 |
T |
A |
9: 92,146,715 (GRCm39) |
V119D |
probably damaging |
Het |
| Prss56 |
A |
T |
1: 87,113,670 (GRCm39) |
D258V |
possibly damaging |
Het |
| Ptpn23 |
T |
G |
9: 110,214,884 (GRCm39) |
K85Q |
possibly damaging |
Het |
| Ranbp3l |
C |
A |
15: 9,037,159 (GRCm39) |
S7Y |
probably benign |
Het |
| Rnf31 |
T |
C |
14: 55,829,690 (GRCm39) |
L85P |
probably damaging |
Het |
| Rptn |
T |
C |
3: 93,305,207 (GRCm39) |
C847R |
possibly damaging |
Het |
| Six4 |
T |
A |
12: 73,155,727 (GRCm39) |
E413D |
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,212,143 (GRCm39) |
V1115A |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,220,755 (GRCm39) |
K401E |
unknown |
Het |
| Srbd1 |
T |
A |
17: 86,443,843 (GRCm39) |
R128W |
possibly damaging |
Het |
| Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
| Susd1 |
T |
G |
4: 59,390,627 (GRCm39) |
T230P |
probably benign |
Het |
| Thumpd2 |
G |
T |
17: 81,363,326 (GRCm39) |
S47* |
probably null |
Het |
| Tmprss11a |
C |
T |
5: 86,576,429 (GRCm39) |
V141I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,821,741 (GRCm39) |
Y438C |
possibly damaging |
Het |
| Tnfrsf1a |
T |
C |
6: 125,333,914 (GRCm39) |
S56P |
probably damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,610 (GRCm39) |
W90R |
probably benign |
Het |
| Utp25 |
A |
G |
1: 192,797,163 (GRCm39) |
I563T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdr20rt |
A |
T |
12: 65,272,536 (GRCm39) |
|
probably null |
Het |
| Zfp646 |
C |
A |
7: 127,481,494 (GRCm39) |
Q1224K |
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 |
|
|
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 |
|
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'- GTACCACGACCATGATGCTG -3'
(R):5'- CTGAAGTCAGTCAAGGCTACATC -3'
Sequencing Primer
(F):5'- GGAACAGTGACCTGGCTTG -3'
(R):5'- GTCAGTCAAGGCTACATCCATAATGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation