Incidental Mutation 'R5039:Mllt6'
| ID |
395715 |
| 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 |
042629-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5039 (G1)
|
| Quality Score |
121 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97554240-97576289 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97560326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 210
(S210N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044730]
[ENSMUST00000107586]
|
| AlphaFold |
B1AR10 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044730
AA Change: S210N
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437
AA Change: S210N
| 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: S210N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437
AA Change: S210N
| 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: ENSMUST00000155835
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
G |
A |
9: 44,192,863 (GRCm39) |
A161V |
probably damaging |
Het |
| Anapc2 |
T |
C |
2: 25,164,808 (GRCm39) |
I64T |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,269,961 (GRCm39) |
D396G |
probably benign |
Het |
| Ark2c |
A |
G |
18: 77,550,608 (GRCm39) |
S107P |
probably damaging |
Het |
| Axl |
C |
T |
7: 25,485,340 (GRCm39) |
V163M |
probably damaging |
Het |
| Blm |
G |
A |
7: 80,155,621 (GRCm39) |
P353S |
possibly damaging |
Het |
| Btaf1 |
T |
C |
19: 36,968,162 (GRCm39) |
Y1116H |
probably benign |
Het |
| Ccdc18 |
T |
A |
5: 108,306,514 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,890,429 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,801,600 (GRCm39) |
N781S |
probably benign |
Het |
| Ctr9 |
C |
A |
7: 110,642,064 (GRCm39) |
H297Q |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
T |
C |
10: 77,888,734 (GRCm39) |
|
probably null |
Het |
| Dock4 |
C |
A |
12: 40,867,745 (GRCm39) |
N1440K |
probably damaging |
Het |
| Etnk1 |
T |
A |
6: 143,141,043 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
T |
13: 49,063,726 (GRCm39) |
|
probably null |
Het |
| Fanca |
T |
C |
8: 124,010,785 (GRCm39) |
D908G |
probably benign |
Het |
| Gm17535 |
T |
A |
9: 3,035,786 (GRCm39) |
L218H |
probably benign |
Het |
| Gm3633 |
A |
C |
14: 42,461,161 (GRCm39) |
N42K |
possibly damaging |
Het |
| Gm4781 |
C |
A |
10: 100,232,851 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr139 |
A |
G |
7: 118,744,165 (GRCm39) |
V140A |
probably benign |
Het |
| Ighv1-62-3 |
G |
T |
12: 115,425,014 (GRCm39) |
T13K |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,226,205 (GRCm39) |
T629A |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,779,724 (GRCm39) |
S199P |
probably damaging |
Het |
| Kdm1b |
G |
A |
13: 47,230,962 (GRCm39) |
G663D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,052,888 (GRCm39) |
D407G |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,405,013 (GRCm39) |
K391R |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 104,013,107 (GRCm39) |
S127T |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,477,955 (GRCm39) |
D1759V |
probably damaging |
Het |
| Myrfl |
T |
C |
10: 116,658,616 (GRCm39) |
D447G |
probably damaging |
Het |
| Ndufb7 |
A |
G |
8: 84,298,094 (GRCm39) |
|
probably benign |
Het |
| Nt5e |
T |
A |
9: 88,245,634 (GRCm39) |
N301K |
probably benign |
Het |
| Or10d4b |
A |
T |
9: 39,534,856 (GRCm39) |
T146S |
possibly damaging |
Het |
| Or8g27 |
T |
A |
9: 39,129,410 (GRCm39) |
Y252* |
probably null |
Het |
| Pcdh10 |
A |
G |
3: 45,336,296 (GRCm39) |
N870S |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,709,305 (GRCm39) |
V670A |
probably benign |
Het |
| Phf8-ps |
A |
C |
17: 33,286,734 (GRCm39) |
C23G |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Ric3 |
G |
C |
7: 108,637,930 (GRCm39) |
S274R |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,031,195 (GRCm39) |
T1540A |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,268,805 (GRCm39) |
M1464L |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,399 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ssb |
A |
T |
2: 69,696,581 (GRCm39) |
E38D |
possibly damaging |
Het |
| Syt14 |
A |
T |
1: 192,709,292 (GRCm39) |
I16N |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,352,878 (GRCm39) |
T973A |
probably damaging |
Het |
| Tial1 |
T |
C |
7: 128,045,692 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,675 (GRCm39) |
T89A |
possibly damaging |
Het |
| Trpv5 |
T |
C |
6: 41,652,879 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,062,267 (GRCm39) |
S265T |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,089,013 (GRCm39) |
D1006G |
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 |
|
|
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'- GCTTTAGGATAGCTAGGCTGAG -3'
(R):5'- TCTCTGGAAAGAAGCCCATGAG -3'
Sequencing Primer
(F):5'- CGGAGTGTCATGGCAGAC -3'
(R):5'- CATGAGAGAGCGGGTCTTCAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation