Incidental Mutation 'R0904:Mllt6'
ID |
83260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mllt6
|
Ensembl Gene |
ENSMUSG00000038437 |
Gene Name |
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6 |
Synonyms |
Af17 |
MMRRC Submission |
039062-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0904 (G1)
|
Quality Score |
167 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97554240-97576289 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 97555824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tryptophan
at position 51
(C51W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044730]
[ENSMUST00000107586]
|
AlphaFold |
B1AR10 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044730
AA Change: C51W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045445 Gene: ENSMUSG00000038437 AA Change: C51W
Domain | Start | End | E-Value | Type |
PHD
|
7 |
55 |
5.92e-7 |
SMART |
PHD
|
119 |
178 |
5e-5 |
SMART |
low complexity region
|
190 |
224 |
N/A |
INTRINSIC |
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
low complexity region
|
290 |
330 |
N/A |
INTRINSIC |
low complexity region
|
358 |
380 |
N/A |
INTRINSIC |
low complexity region
|
398 |
412 |
N/A |
INTRINSIC |
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
low complexity region
|
520 |
536 |
N/A |
INTRINSIC |
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
low complexity region
|
579 |
601 |
N/A |
INTRINSIC |
low complexity region
|
649 |
666 |
N/A |
INTRINSIC |
coiled coil region
|
703 |
744 |
N/A |
INTRINSIC |
low complexity region
|
746 |
756 |
N/A |
INTRINSIC |
low complexity region
|
773 |
782 |
N/A |
INTRINSIC |
low complexity region
|
802 |
848 |
N/A |
INTRINSIC |
low complexity region
|
860 |
901 |
N/A |
INTRINSIC |
coiled coil region
|
915 |
942 |
N/A |
INTRINSIC |
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
low complexity region
|
1026 |
1037 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107586
AA Change: C51W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103212 Gene: ENSMUSG00000038437 AA Change: C51W
Domain | Start | End | E-Value | Type |
PHD
|
7 |
55 |
5.92e-7 |
SMART |
PHD
|
119 |
178 |
5e-5 |
SMART |
low complexity region
|
190 |
224 |
N/A |
INTRINSIC |
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
low complexity region
|
290 |
330 |
N/A |
INTRINSIC |
low complexity region
|
336 |
356 |
N/A |
INTRINSIC |
low complexity region
|
388 |
410 |
N/A |
INTRINSIC |
low complexity region
|
428 |
442 |
N/A |
INTRINSIC |
low complexity region
|
517 |
528 |
N/A |
INTRINSIC |
low complexity region
|
532 |
546 |
N/A |
INTRINSIC |
low complexity region
|
550 |
566 |
N/A |
INTRINSIC |
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
low complexity region
|
609 |
631 |
N/A |
INTRINSIC |
low complexity region
|
679 |
696 |
N/A |
INTRINSIC |
coiled coil region
|
733 |
774 |
N/A |
INTRINSIC |
low complexity region
|
776 |
786 |
N/A |
INTRINSIC |
low complexity region
|
803 |
812 |
N/A |
INTRINSIC |
low complexity region
|
832 |
878 |
N/A |
INTRINSIC |
low complexity region
|
890 |
931 |
N/A |
INTRINSIC |
coiled coil region
|
945 |
972 |
N/A |
INTRINSIC |
low complexity region
|
1025 |
1048 |
N/A |
INTRINSIC |
low complexity region
|
1056 |
1067 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134158
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175263
|
Meta Mutation Damage Score |
0.9572 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
89% (34/38) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit no abnormal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
A |
G |
8: 79,975,118 (GRCm39) |
|
probably benign |
Het |
Abca13 |
T |
C |
11: 9,248,740 (GRCm39) |
V2829A |
probably benign |
Het |
Adk |
G |
T |
14: 21,142,496 (GRCm39) |
D26Y |
probably damaging |
Het |
Bpifb9a |
T |
C |
2: 154,106,145 (GRCm39) |
|
probably benign |
Het |
Dap |
G |
A |
15: 31,272,526 (GRCm39) |
|
probably benign |
Het |
Eqtn |
A |
T |
4: 94,795,892 (GRCm39) |
S270T |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,619,487 (GRCm39) |
D764G |
probably damaging |
Het |
Fbxl6 |
A |
T |
15: 76,421,283 (GRCm39) |
|
probably null |
Het |
Gtf3c1 |
A |
T |
7: 125,268,014 (GRCm39) |
|
probably benign |
Het |
H2-D1 |
G |
C |
17: 35,482,837 (GRCm39) |
M122I |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Map1s |
C |
A |
8: 71,366,832 (GRCm39) |
P579Q |
probably damaging |
Het |
Mapk10 |
A |
G |
5: 103,135,146 (GRCm39) |
|
probably benign |
Het |
Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Neurod2 |
G |
T |
11: 98,218,147 (GRCm39) |
T339K |
probably benign |
Het |
Nfya |
G |
A |
17: 48,702,815 (GRCm39) |
Q29* |
probably null |
Het |
Nipbl |
A |
T |
15: 8,391,202 (GRCm39) |
D257E |
probably benign |
Het |
Pate5 |
T |
C |
9: 35,750,366 (GRCm39) |
D102G |
probably damaging |
Het |
Pex5 |
G |
A |
6: 124,376,896 (GRCm39) |
|
probably benign |
Het |
Pramel47 |
A |
C |
5: 95,489,186 (GRCm39) |
T210P |
probably damaging |
Het |
Prx |
T |
A |
7: 27,217,719 (GRCm39) |
F879Y |
probably damaging |
Het |
Resf1 |
G |
A |
6: 149,229,767 (GRCm39) |
A938T |
probably damaging |
Het |
Scai |
G |
A |
2: 38,965,164 (GRCm39) |
T560M |
possibly damaging |
Het |
Slfn10-ps |
T |
C |
11: 82,926,235 (GRCm39) |
|
noncoding transcript |
Het |
Spdye4b |
A |
G |
5: 143,181,423 (GRCm39) |
|
probably benign |
Het |
Ss18l1 |
A |
G |
2: 179,701,147 (GRCm39) |
Y287C |
probably damaging |
Het |
Tpbg |
C |
A |
9: 85,726,617 (GRCm39) |
F195L |
unknown |
Het |
Trbv16 |
T |
C |
6: 41,128,781 (GRCm39) |
|
probably benign |
Het |
Unc5c |
A |
G |
3: 141,509,601 (GRCm39) |
T620A |
probably benign |
Het |
Vangl1 |
A |
G |
3: 102,091,310 (GRCm39) |
S259P |
probably damaging |
Het |
Vmn1r52 |
T |
A |
6: 90,156,446 (GRCm39) |
M71K |
probably damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,719,094 (GRCm39) |
I816F |
probably damaging |
Het |
Zfp268 |
T |
C |
4: 145,348,745 (GRCm39) |
Y61H |
possibly damaging |
Het |
|
Other mutations in Mllt6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01745:Mllt6
|
APN |
11 |
97,567,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01808:Mllt6
|
APN |
11 |
97,563,310 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01967:Mllt6
|
APN |
11 |
97,565,603 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02247:Mllt6
|
APN |
11 |
97,561,158 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03161:Mllt6
|
APN |
11 |
97,557,977 (GRCm39) |
missense |
probably benign |
0.03 |
R0284:Mllt6
|
UTSW |
11 |
97,569,431 (GRCm39) |
missense |
probably benign |
0.02 |
R0718:Mllt6
|
UTSW |
11 |
97,567,185 (GRCm39) |
splice site |
probably benign |
|
R0783:Mllt6
|
UTSW |
11 |
97,556,571 (GRCm39) |
missense |
probably damaging |
0.99 |
R0811:Mllt6
|
UTSW |
11 |
97,569,387 (GRCm39) |
missense |
probably damaging |
0.97 |
R0812:Mllt6
|
UTSW |
11 |
97,569,387 (GRCm39) |
missense |
probably damaging |
0.97 |
R0960:Mllt6
|
UTSW |
11 |
97,555,772 (GRCm39) |
splice site |
probably benign |
|
R1445:Mllt6
|
UTSW |
11 |
97,563,277 (GRCm39) |
splice site |
probably benign |
|
R1523:Mllt6
|
UTSW |
11 |
97,555,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R1781:Mllt6
|
UTSW |
11 |
97,563,395 (GRCm39) |
missense |
probably benign |
|
R1952:Mllt6
|
UTSW |
11 |
97,568,048 (GRCm39) |
missense |
probably damaging |
0.99 |
R2258:Mllt6
|
UTSW |
11 |
97,555,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R2259:Mllt6
|
UTSW |
11 |
97,555,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R2927:Mllt6
|
UTSW |
11 |
97,571,602 (GRCm39) |
missense |
probably damaging |
0.98 |
R4866:Mllt6
|
UTSW |
11 |
97,565,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R4938:Mllt6
|
UTSW |
11 |
97,569,233 (GRCm39) |
missense |
probably benign |
|
R5039:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5058:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5064:Mllt6
|
UTSW |
11 |
97,564,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R5076:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5115:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5379:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5509:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5510:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5511:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5603:Mllt6
|
UTSW |
11 |
97,564,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R5816:Mllt6
|
UTSW |
11 |
97,563,400 (GRCm39) |
missense |
probably damaging |
0.97 |
R6030:Mllt6
|
UTSW |
11 |
97,568,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R6030:Mllt6
|
UTSW |
11 |
97,568,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R6051:Mllt6
|
UTSW |
11 |
97,571,569 (GRCm39) |
nonsense |
probably null |
|
R6180:Mllt6
|
UTSW |
11 |
97,569,362 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6277:Mllt6
|
UTSW |
11 |
97,564,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R6667:Mllt6
|
UTSW |
11 |
97,567,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R6754:Mllt6
|
UTSW |
11 |
97,565,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R6791:Mllt6
|
UTSW |
11 |
97,571,428 (GRCm39) |
missense |
probably damaging |
0.98 |
R7049:Mllt6
|
UTSW |
11 |
97,564,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R7194:Mllt6
|
UTSW |
11 |
97,564,394 (GRCm39) |
missense |
probably benign |
0.23 |
R7387:Mllt6
|
UTSW |
11 |
97,565,426 (GRCm39) |
missense |
probably benign |
0.04 |
R7484:Mllt6
|
UTSW |
11 |
97,563,442 (GRCm39) |
missense |
probably benign |
0.18 |
R7685:Mllt6
|
UTSW |
11 |
97,567,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R7853:Mllt6
|
UTSW |
11 |
97,561,142 (GRCm39) |
missense |
probably benign |
|
R7862:Mllt6
|
UTSW |
11 |
97,556,631 (GRCm39) |
missense |
probably benign |
0.03 |
R8004:Mllt6
|
UTSW |
11 |
97,566,966 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8498:Mllt6
|
UTSW |
11 |
97,567,688 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9044:Mllt6
|
UTSW |
11 |
97,554,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R9297:Mllt6
|
UTSW |
11 |
97,563,314 (GRCm39) |
missense |
probably damaging |
0.96 |
R9457:Mllt6
|
UTSW |
11 |
97,556,586 (GRCm39) |
missense |
probably benign |
0.12 |
R9557:Mllt6
|
UTSW |
11 |
97,564,310 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Mllt6
|
UTSW |
11 |
97,567,251 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCTGTTCCATTGAGTGATCCCG -3'
(R):5'- AAGAGGCTCCTAACTGCTGAAGGC -3'
Sequencing Primer
(F):5'- CTTTAGTAGGCTGGGTCTCTTC -3'
(R):5'- GAGAACCTGCTGGTCACTACAG -3'
|
Posted On |
2013-11-08 |