Incidental Mutation 'R0284:Mllt6'
| ID |
24625 |
| 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 |
038505-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0284 (G1)
|
| Quality Score |
180 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97554240-97576289 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97569431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 928
(A928S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044730]
[ENSMUST00000107586]
|
| AlphaFold |
B1AR10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044730
AA Change: A898S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437
AA Change: A898S
| 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 benign
Transcript: ENSMUST00000107586
AA Change: A928S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437
AA Change: A928S
| 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: ENSMUST00000143220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184494
|
| Meta Mutation Damage Score |
0.0748 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.4%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh6 |
A |
G |
7: 30,013,413 (GRCm39) |
T161A |
probably benign |
Het |
| Alox12e |
A |
G |
11: 70,211,725 (GRCm39) |
|
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,339,149 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
A |
T |
15: 96,276,848 (GRCm39) |
|
probably benign |
Het |
| Bmp2k |
A |
T |
5: 97,216,314 (GRCm39) |
H604L |
unknown |
Het |
| Cacna1a |
A |
T |
8: 85,338,914 (GRCm39) |
M1705L |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,794,062 (GRCm39) |
D1526E |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,467,975 (GRCm39) |
R107G |
possibly damaging |
Het |
| Cklf |
T |
C |
8: 104,988,207 (GRCm39) |
|
probably benign |
Het |
| Crabp1 |
A |
G |
9: 54,672,210 (GRCm39) |
K9E |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,793,423 (GRCm39) |
D386G |
probably damaging |
Het |
| Cyp3a41b |
G |
A |
5: 145,515,014 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,464,684 (GRCm39) |
V393E |
probably damaging |
Het |
| Ednrb |
C |
T |
14: 104,057,449 (GRCm39) |
G371D |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 76,994,353 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,061,608 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,183,362 (GRCm39) |
|
probably benign |
Het |
| Foxo6 |
T |
C |
4: 120,126,199 (GRCm39) |
S199G |
probably benign |
Het |
| Fpr1 |
T |
A |
17: 18,097,618 (GRCm39) |
I124F |
probably damaging |
Het |
| Gk5 |
A |
T |
9: 96,063,823 (GRCm39) |
|
probably null |
Het |
| Gys1 |
A |
T |
7: 45,086,143 (GRCm39) |
|
probably benign |
Het |
| Igfbp1 |
T |
C |
11: 7,148,103 (GRCm39) |
S49P |
probably damaging |
Het |
| Incenp |
A |
T |
19: 9,871,357 (GRCm39) |
S91T |
unknown |
Het |
| Itpkc |
G |
A |
7: 26,913,968 (GRCm39) |
R498* |
probably null |
Het |
| Kat6a |
A |
G |
8: 23,429,819 (GRCm39) |
T1725A |
unknown |
Het |
| Kiz |
T |
A |
2: 146,705,730 (GRCm39) |
C97S |
probably benign |
Het |
| Kri1 |
A |
G |
9: 21,187,848 (GRCm39) |
|
probably benign |
Het |
| Lipn |
A |
G |
19: 34,058,106 (GRCm39) |
S276G |
possibly damaging |
Het |
| Llgl1 |
A |
G |
11: 60,602,967 (GRCm39) |
T881A |
probably damaging |
Het |
| Man1a2 |
T |
C |
3: 100,592,102 (GRCm39) |
H26R |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,876,359 (GRCm39) |
F173I |
probably damaging |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,855 (GRCm39) |
Q341R |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nipsnap3a |
C |
T |
4: 52,997,178 (GRCm39) |
T150I |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,797,427 (GRCm39) |
E97G |
probably damaging |
Het |
| Or11j4 |
G |
A |
14: 50,630,452 (GRCm39) |
V80M |
probably damaging |
Het |
| Or4f54 |
T |
C |
2: 111,122,931 (GRCm39) |
V106A |
probably benign |
Het |
| Or7g18 |
A |
T |
9: 18,786,848 (GRCm39) |
Y72F |
probably benign |
Het |
| Or8c11 |
G |
A |
9: 38,289,880 (GRCm39) |
M234I |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,855,207 (GRCm39) |
F220L |
probably damaging |
Het |
| Pdcd6ip |
A |
G |
9: 113,491,572 (GRCm39) |
L552S |
probably damaging |
Het |
| Plekhf2 |
T |
C |
4: 10,990,595 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,332,622 (GRCm39) |
E96G |
probably damaging |
Het |
| Prpf40a |
T |
A |
2: 53,040,659 (GRCm39) |
E608D |
probably damaging |
Het |
| Prpf40b |
A |
T |
15: 99,214,274 (GRCm39) |
|
probably benign |
Het |
| Rag2 |
T |
C |
2: 101,460,464 (GRCm39) |
V258A |
probably damaging |
Het |
| S100a5 |
A |
G |
3: 90,518,881 (GRCm39) |
I68V |
probably benign |
Het |
| Serpinb8 |
G |
A |
1: 107,530,648 (GRCm39) |
|
probably null |
Het |
| Slc24a4 |
T |
C |
12: 102,226,740 (GRCm39) |
V492A |
probably damaging |
Het |
| Spag6l |
T |
A |
16: 16,598,630 (GRCm39) |
Q287L |
probably damaging |
Het |
| Spmip6 |
T |
G |
4: 41,507,538 (GRCm39) |
E150A |
probably damaging |
Het |
| Synpo2 |
C |
T |
3: 122,873,383 (GRCm39) |
W211* |
probably null |
Het |
| Tgtp1 |
A |
G |
11: 48,877,970 (GRCm39) |
V245A |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Trerf1 |
A |
G |
17: 47,630,471 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
C |
2: 76,677,048 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,871,372 (GRCm39) |
M1900K |
probably benign |
Het |
| Vps41 |
A |
T |
13: 19,037,610 (GRCm39) |
D691V |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,829,083 (GRCm39) |
Y974C |
probably damaging |
Het |
| Zscan29 |
A |
T |
2: 120,997,214 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- GGTGAACGTCATCTGAGCACTGTG -3'
(R):5'- TGTATCTGGGGAGTCCCTTAAGTCG -3'
Sequencing Primer
(F):5'- GTGCGGATCTAGCCTTCAC -3'
(R):5'- TCGACAGACTGCCAGATCTATAAATC -3'
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| Posted On |
2013-04-16 |
Incidental Mutation