Incidental Mutation 'R5076:Mllt6'
| ID |
395780 |
| 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 |
042665-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5076 (G1)
|
| Quality Score |
164 |
|
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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.0%
|
| Validation Efficiency |
97% (66/68) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,963,559 (GRCm39) |
I72V |
probably benign |
Het |
| Aadacl3 |
G |
A |
4: 144,182,640 (GRCm39) |
P276L |
possibly damaging |
Het |
| Acp6 |
T |
A |
3: 97,075,305 (GRCm39) |
S180T |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,221,053 (GRCm39) |
R449* |
probably null |
Het |
| Ak1 |
T |
C |
2: 32,523,460 (GRCm39) |
V176A |
probably damaging |
Het |
| Capzb |
A |
T |
4: 139,015,125 (GRCm39) |
D226V |
possibly damaging |
Het |
| Cd34 |
A |
T |
1: 194,630,338 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
C |
A |
8: 123,591,087 (GRCm39) |
D445E |
possibly damaging |
Het |
| Chil4 |
A |
G |
3: 106,109,913 (GRCm39) |
F367L |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,365,132 (GRCm39) |
Y458C |
probably damaging |
Het |
| Cplane2 |
A |
G |
4: 140,944,696 (GRCm39) |
I82M |
probably benign |
Het |
| Ctsw |
T |
C |
19: 5,518,486 (GRCm39) |
Y9C |
probably benign |
Het |
| Dhrs7 |
T |
C |
12: 72,706,255 (GRCm39) |
D50G |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,584,799 (GRCm39) |
K3177E |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,327,251 (GRCm39) |
F83L |
probably benign |
Het |
| Eif5a2 |
G |
A |
3: 28,836,886 (GRCm39) |
V59I |
possibly damaging |
Het |
| Emilin3 |
T |
A |
2: 160,751,238 (GRCm39) |
|
probably null |
Het |
| Entpd8 |
A |
G |
2: 24,975,066 (GRCm39) |
S426G |
possibly damaging |
Het |
| Epb41l4b |
C |
T |
4: 57,040,984 (GRCm39) |
G493D |
probably damaging |
Het |
| Gm11596 |
C |
T |
11: 99,683,698 (GRCm39) |
G141R |
unknown |
Het |
| Gpi-ps |
T |
G |
8: 5,690,130 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q4 |
T |
C |
17: 35,599,417 (GRCm39) |
Y167H |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,382,490 (GRCm39) |
|
probably null |
Het |
| Kif2c |
A |
T |
4: 117,032,066 (GRCm39) |
|
probably benign |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,096,751 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap9-5 |
A |
T |
11: 99,840,294 (GRCm39) |
T332S |
unknown |
Het |
| Lrrc39 |
A |
T |
3: 116,373,189 (GRCm39) |
E283V |
probably benign |
Het |
| Mdga1 |
A |
G |
17: 30,069,528 (GRCm39) |
S447P |
possibly damaging |
Het |
| Mindy1 |
G |
A |
3: 95,202,710 (GRCm39) |
V425M |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,442,772 (GRCm39) |
Y280* |
probably null |
Het |
| Muc3a |
T |
A |
5: 137,244,997 (GRCm39) |
T159S |
probably damaging |
Het |
| Or10ad1b |
T |
A |
15: 98,124,642 (GRCm39) |
I295F |
probably damaging |
Het |
| Or4a79 |
T |
A |
2: 89,551,745 (GRCm39) |
T237S |
probably damaging |
Het |
| Or4f6 |
A |
T |
2: 111,838,937 (GRCm39) |
M198K |
probably damaging |
Het |
| Pcdhga4 |
G |
A |
18: 37,818,648 (GRCm39) |
V66I |
probably benign |
Het |
| Pdhx |
T |
C |
2: 102,871,422 (GRCm39) |
T203A |
probably damaging |
Het |
| Pdss1 |
A |
G |
2: 22,789,929 (GRCm39) |
|
probably null |
Het |
| Pdxk |
G |
T |
10: 78,286,141 (GRCm39) |
Q103K |
probably benign |
Het |
| Peg3 |
A |
G |
7: 6,711,419 (GRCm39) |
C1268R |
probably damaging |
Het |
| Pitpnc1 |
A |
T |
11: 107,187,093 (GRCm39) |
S77T |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,874,990 (GRCm39) |
|
probably benign |
Het |
| Poc1b |
C |
T |
10: 98,943,703 (GRCm39) |
T22I |
probably damaging |
Het |
| Ppfia1 |
G |
A |
7: 144,060,001 (GRCm39) |
R604W |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,680 (GRCm39) |
F189S |
probably damaging |
Het |
| Rbks |
T |
A |
5: 31,807,795 (GRCm39) |
Y99* |
probably null |
Het |
| Sh3rf2 |
G |
T |
18: 42,186,989 (GRCm39) |
C36F |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,889 (GRCm39) |
N303K |
probably damaging |
Het |
| Tasor2 |
C |
T |
13: 3,626,357 (GRCm39) |
V1198I |
probably benign |
Het |
| Tcaf2 |
T |
C |
6: 42,606,401 (GRCm39) |
T518A |
probably benign |
Het |
| Tmem163 |
A |
T |
1: 127,428,013 (GRCm39) |
V191D |
probably damaging |
Het |
| Trappc6b |
A |
G |
12: 59,097,094 (GRCm39) |
V76A |
probably damaging |
Het |
| Ube2nl |
A |
G |
7: 61,199,280 (GRCm39) |
|
noncoding transcript |
Het |
| Unc5d |
C |
T |
8: 29,184,704 (GRCm39) |
V599M |
possibly damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,346 (GRCm39) |
M31L |
probably benign |
Het |
| Vrtn |
C |
A |
12: 84,696,248 (GRCm39) |
Q333K |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,298,008 (GRCm39) |
F163I |
possibly damaging |
Het |
| Zfyve1 |
C |
T |
12: 83,602,421 (GRCm39) |
R458H |
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 |
|
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'- CTCTGGAAAGAAGCCCATGAG -3'
Sequencing Primer
(F):5'- CGGAGTGTCATGGCAGAC -3'
(R):5'- CATGAGAGAGCGGGTCTTCAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation