Incidental Mutation 'R5312:Dot1l'
| ID |
405657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dot1l
|
| Ensembl Gene |
ENSMUSG00000061589 |
| Gene Name |
DOT1 like histone lysine methyltransferase |
| Synonyms |
KMT4, mDot1 |
| MMRRC Submission |
042895-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5312 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80591040-80631295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80620471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 511
(Q511R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105336]
[ENSMUST00000127740]
[ENSMUST00000149394]
[ENSMUST00000150338]
|
| AlphaFold |
Q6XZL8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105336
AA Change: Q511R
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100973
Gene: ENSMUSG00000061589
AA Change: Q511R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DOT1
|
115 |
317 |
9.4e-86 |
PFAM |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
AT_hook
|
407 |
419 |
4.64e-1 |
SMART |
|
low complexity region
|
437 |
447 |
N/A |
INTRINSIC |
|
coiled coil region
|
558 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
917 |
936 |
N/A |
INTRINSIC |
|
low complexity region
|
948 |
961 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1095 |
N/A |
INTRINSIC |
|
low complexity region
|
1145 |
1157 |
N/A |
INTRINSIC |
|
low complexity region
|
1186 |
1198 |
N/A |
INTRINSIC |
|
low complexity region
|
1436 |
1446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149394
|
| SMART Domains |
Protein: ENSMUSP00000127762
Gene: ENSMUSG00000061589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150338
AA Change: Q294R
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116581
Gene: ENSMUSG00000061589
AA Change: Q294R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DOT1
|
1 |
100 |
3.4e-37 |
PFAM |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
AT_hook
|
190 |
202 |
4.64e-1 |
SMART |
|
low complexity region
|
220 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
390 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
396 |
441 |
1e-3 |
SMART |
|
low complexity region
|
700 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
969 |
981 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1055 |
N/A |
INTRINSIC |
|
low complexity region
|
1060 |
1105 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163526
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trap allele show late embryonic lethality. Mice homozygous for a null allele die by E10.5 displaying a growth arrest, abnormal yolk sac angiogenesis and heart dilation while mutant ES cells show elevated apoptosis, G2 cell cycle arrest, telomere elongation and aneuploidy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,944,592 (GRCm39) |
V409A |
probably damaging |
Het |
| Abtb1 |
A |
G |
6: 88,815,240 (GRCm39) |
F297L |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Adgrg3 |
G |
A |
8: 95,766,492 (GRCm39) |
V388I |
probably benign |
Het |
| Adnp |
T |
C |
2: 168,026,108 (GRCm39) |
T396A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,753,417 (GRCm39) |
Q288R |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,234,109 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Ceacam23 |
T |
G |
7: 17,643,067 (GRCm39) |
H492Q |
probably damaging |
Het |
| Cfap210 |
T |
C |
2: 69,617,602 (GRCm39) |
T60A |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,666,249 (GRCm39) |
E1093V |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,518,360 (GRCm39) |
L343Q |
probably damaging |
Het |
| Dmrta1 |
A |
C |
4: 89,580,284 (GRCm39) |
N415H |
probably damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,138,617 (GRCm39) |
V266E |
probably damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,774,207 (GRCm39) |
V201A |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,003,019 (GRCm39) |
F613L |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,501 (GRCm39) |
S39P |
probably damaging |
Het |
| Kbtbd11 |
A |
G |
8: 15,078,589 (GRCm39) |
D396G |
possibly damaging |
Het |
| Klc1 |
A |
G |
12: 111,762,055 (GRCm39) |
K575R |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,302,559 (GRCm39) |
V825E |
probably damaging |
Het |
| Mus81 |
T |
C |
19: 5,533,522 (GRCm39) |
K489R |
possibly damaging |
Het |
| Myog |
A |
G |
1: 134,218,064 (GRCm39) |
K91E |
probably damaging |
Het |
| Nfil3 |
A |
T |
13: 53,121,656 (GRCm39) |
V416E |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,563,176 (GRCm39) |
E1314* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,963,415 (GRCm39) |
Q1000* |
probably null |
Het |
| Or4g17 |
T |
C |
2: 111,210,179 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or4k35 |
T |
G |
2: 111,100,655 (GRCm39) |
D19A |
probably benign |
Het |
| Or6c66b |
A |
C |
10: 129,377,134 (GRCm39) |
M243L |
probably benign |
Het |
| Or6c75 |
T |
A |
10: 129,337,383 (GRCm39) |
V210E |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,573,147 (GRCm39) |
|
probably null |
Het |
| Pramel16 |
A |
T |
4: 143,675,665 (GRCm39) |
I387N |
possibly damaging |
Het |
| Psg27 |
C |
A |
7: 18,290,958 (GRCm39) |
R415L |
probably benign |
Het |
| Ptprr |
T |
A |
10: 116,024,324 (GRCm39) |
S212T |
probably benign |
Het |
| Ramp3 |
T |
C |
11: 6,624,888 (GRCm39) |
F61L |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,664,389 (GRCm39) |
L322P |
probably damaging |
Het |
| Rnf5 |
A |
G |
17: 34,820,562 (GRCm39) |
F175S |
probably benign |
Het |
| Sema4a |
G |
A |
3: 88,344,343 (GRCm39) |
S636F |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,676,708 (GRCm39) |
D193G |
probably damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,052,258 (GRCm39) |
S24G |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,918,058 (GRCm39) |
F606Y |
probably benign |
Het |
| Spg21 |
A |
G |
9: 65,376,084 (GRCm39) |
I31V |
probably benign |
Het |
| Tmem45a2 |
T |
C |
16: 56,859,370 (GRCm39) |
D287G |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,603,513 (GRCm39) |
D627E |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,296 (GRCm39) |
N139I |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,412,799 (GRCm39) |
I629T |
probably damaging |
Het |
| Washc5 |
A |
T |
15: 59,217,377 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
T |
C |
7: 6,308,466 (GRCm39) |
I378T |
probably benign |
Het |
| Zfp949 |
A |
C |
9: 88,449,236 (GRCm39) |
T14P |
possibly damaging |
Het |
|
| Other mutations in Dot1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01836:Dot1l
|
APN |
10 |
80,621,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01915:Dot1l
|
APN |
10 |
80,616,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02287:Dot1l
|
APN |
10 |
80,600,443 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02695:Dot1l
|
APN |
10 |
80,613,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03058:Dot1l
|
APN |
10 |
80,626,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03071:Dot1l
|
APN |
10 |
80,624,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03120:Dot1l
|
APN |
10 |
80,622,107 (GRCm39) |
splice site |
probably benign |
|
|
R0220:Dot1l
|
UTSW |
10 |
80,621,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1342:Dot1l
|
UTSW |
10 |
80,621,859 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1701:Dot1l
|
UTSW |
10 |
80,626,576 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1862:Dot1l
|
UTSW |
10 |
80,619,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2094:Dot1l
|
UTSW |
10 |
80,621,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2308:Dot1l
|
UTSW |
10 |
80,624,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Dot1l
|
UTSW |
10 |
80,619,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4617:Dot1l
|
UTSW |
10 |
80,620,918 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4623:Dot1l
|
UTSW |
10 |
80,617,984 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4690:Dot1l
|
UTSW |
10 |
80,622,016 (GRCm39) |
nonsense |
probably null |
|
|
R5009:Dot1l
|
UTSW |
10 |
80,607,030 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5072:Dot1l
|
UTSW |
10 |
80,620,480 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5073:Dot1l
|
UTSW |
10 |
80,620,480 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5074:Dot1l
|
UTSW |
10 |
80,620,480 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5305:Dot1l
|
UTSW |
10 |
80,626,627 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5512:Dot1l
|
UTSW |
10 |
80,624,825 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5551:Dot1l
|
UTSW |
10 |
80,619,462 (GRCm39) |
small deletion |
probably benign |
|
|
R5552:Dot1l
|
UTSW |
10 |
80,619,462 (GRCm39) |
small deletion |
probably benign |
|
|
R5553:Dot1l
|
UTSW |
10 |
80,619,462 (GRCm39) |
small deletion |
probably benign |
|
|
R6056:Dot1l
|
UTSW |
10 |
80,621,929 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6207:Dot1l
|
UTSW |
10 |
80,622,277 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6419:Dot1l
|
UTSW |
10 |
80,627,315 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6782:Dot1l
|
UTSW |
10 |
80,625,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7054:Dot1l
|
UTSW |
10 |
80,622,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7071:Dot1l
|
UTSW |
10 |
80,628,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7097:Dot1l
|
UTSW |
10 |
80,626,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7131:Dot1l
|
UTSW |
10 |
80,628,175 (GRCm39) |
missense |
unknown |
|
|
R7459:Dot1l
|
UTSW |
10 |
80,609,007 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7687:Dot1l
|
UTSW |
10 |
80,625,202 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7741:Dot1l
|
UTSW |
10 |
80,619,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8513:Dot1l
|
UTSW |
10 |
80,627,260 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8830:Dot1l
|
UTSW |
10 |
80,607,033 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8881:Dot1l
|
UTSW |
10 |
80,621,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Dot1l
|
UTSW |
10 |
80,626,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9438:Dot1l
|
UTSW |
10 |
80,627,120 (GRCm39) |
missense |
probably benign |
|
|
R9439:Dot1l
|
UTSW |
10 |
80,621,438 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9664:Dot1l
|
UTSW |
10 |
80,624,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9671:Dot1l
|
UTSW |
10 |
80,620,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9727:Dot1l
|
UTSW |
10 |
80,628,382 (GRCm39) |
missense |
unknown |
|
|
R9787:Dot1l
|
UTSW |
10 |
80,600,472 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0066:Dot1l
|
UTSW |
10 |
80,624,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Dot1l
|
UTSW |
10 |
80,624,517 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCCCACATTGTGAGAAAAG -3'
(R):5'- AACAGCCTGCGGATTTCTTC -3'
Sequencing Primer
(F):5'- TCCCACATTGTGAGAAAAGCTGAAAG -3'
(R):5'- CCTTTTGGGCCTGGCAATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation