Incidental Mutation 'R5816:Mllt6'
ID |
449058 |
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 |
043214-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5816 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
97554240-97576289 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97563400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 328
(K328E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044730]
[ENSMUST00000107586]
|
AlphaFold |
B1AR10 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044730
AA Change: K328E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045445 Gene: ENSMUSG00000038437 AA Change: K328E
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: K328E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103212 Gene: ENSMUSG00000038437 AA Change: K328E
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: ENSMUST00000143220
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184494
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
T |
C |
11: 94,234,563 (GRCm39) |
D1501G |
probably damaging |
Het |
Aldh8a1 |
A |
T |
10: 21,271,329 (GRCm39) |
I352F |
probably damaging |
Het |
Bend7 |
G |
A |
2: 4,749,143 (GRCm39) |
E87K |
probably damaging |
Het |
Bend7 |
A |
G |
2: 4,757,710 (GRCm39) |
R251G |
probably benign |
Het |
Cep72 |
A |
T |
13: 74,197,150 (GRCm39) |
S402T |
probably benign |
Het |
Cer1 |
A |
G |
4: 82,801,120 (GRCm39) |
V181A |
probably damaging |
Het |
Ces1b |
T |
C |
8: 93,799,890 (GRCm39) |
N162S |
probably benign |
Het |
Cyp1a2 |
T |
C |
9: 57,588,336 (GRCm39) |
N296S |
probably benign |
Het |
Cyria |
A |
G |
12: 12,408,166 (GRCm39) |
D64G |
probably benign |
Het |
Dst |
C |
T |
1: 34,218,315 (GRCm39) |
A1585V |
probably benign |
Het |
Dzip1 |
G |
A |
14: 119,146,892 (GRCm39) |
P339L |
probably benign |
Het |
Eif4enif1 |
T |
C |
11: 3,192,401 (GRCm39) |
I568T |
probably benign |
Het |
Eif5a |
C |
T |
11: 69,808,499 (GRCm39) |
R109Q |
possibly damaging |
Het |
Foxj2 |
G |
A |
6: 122,810,695 (GRCm39) |
S225N |
probably benign |
Het |
Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
Galnt14 |
T |
C |
17: 73,881,877 (GRCm39) |
Y74C |
probably damaging |
Het |
Glrb |
T |
A |
3: 80,769,286 (GRCm39) |
N147I |
probably damaging |
Het |
Grb14 |
A |
T |
2: 64,747,628 (GRCm39) |
M377K |
probably damaging |
Het |
Kcng1 |
C |
T |
2: 168,110,643 (GRCm39) |
E174K |
possibly damaging |
Het |
Kdm3b |
A |
C |
18: 34,961,522 (GRCm39) |
E1433A |
probably damaging |
Het |
Matn3 |
G |
A |
12: 9,020,571 (GRCm39) |
R481H |
probably damaging |
Het |
Mcm6 |
A |
G |
1: 128,276,192 (GRCm39) |
V331A |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,701,956 (GRCm39) |
Y415C |
probably damaging |
Het |
Med11 |
T |
C |
11: 70,343,111 (GRCm39) |
S65P |
probably damaging |
Het |
Metrnl |
T |
A |
11: 121,598,938 (GRCm39) |
S166T |
probably benign |
Het |
Nek5 |
T |
C |
8: 22,586,752 (GRCm39) |
K353R |
probably benign |
Het |
Or52ab4 |
A |
G |
7: 102,988,202 (GRCm39) |
T314A |
probably benign |
Het |
Or8g52 |
T |
A |
9: 39,630,526 (GRCm39) |
M1K |
probably null |
Het |
Pfkl |
A |
T |
10: 77,837,856 (GRCm39) |
N46K |
possibly damaging |
Het |
Phactr3 |
A |
G |
2: 177,944,586 (GRCm39) |
E428G |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,128,902 (GRCm39) |
S3934G |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,429,718 (GRCm39) |
D3312G |
probably benign |
Het |
Prmt8 |
G |
A |
6: 127,674,701 (GRCm39) |
T309I |
probably benign |
Het |
Psd3 |
A |
T |
8: 68,413,162 (GRCm39) |
V742E |
possibly damaging |
Het |
S100a14 |
A |
G |
3: 90,435,157 (GRCm39) |
H56R |
probably damaging |
Het |
Scaf8 |
T |
A |
17: 3,227,988 (GRCm39) |
S406T |
unknown |
Het |
Slc26a4 |
G |
T |
12: 31,578,684 (GRCm39) |
H656Q |
probably damaging |
Het |
Smarcc1 |
T |
C |
9: 110,026,712 (GRCm39) |
V724A |
possibly damaging |
Het |
Thbs2 |
C |
T |
17: 14,904,333 (GRCm39) |
|
probably null |
Het |
Zbtb6 |
A |
T |
2: 37,319,227 (GRCm39) |
F234I |
probably benign |
Het |
Zfp536 |
C |
T |
7: 37,180,053 (GRCm39) |
D851N |
probably 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 |
R0904:Mllt6
|
UTSW |
11 |
97,555,824 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TCCCAGTTCAGGTTGTGCAC -3'
(R):5'- CTTGTAAGGAAAGGGGCTCTGG -3'
Sequencing Primer
(F):5'- TTGTGCACCCTCCCGAG -3'
(R):5'- AGCCATCAGTAACGGGTTC -3'
|
Posted On |
2016-12-20 |