Incidental Mutation 'R6352:Mllt10'
ID |
513266 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mllt10
|
Ensembl Gene |
ENSMUSG00000026743 |
Gene Name |
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10 |
Synonyms |
B130021D15Rik, D630001B22Rik, Af10 |
MMRRC Submission |
044504-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.704)
|
Stock # |
R6352 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
18060048-18217199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 18128604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 117
(K117T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028076]
[ENSMUST00000114669]
[ENSMUST00000114671]
[ENSMUST00000114680]
|
AlphaFold |
O54826 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028076
AA Change: K195T
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000028076 Gene: ENSMUSG00000026743 AA Change: K195T
Domain | Start | End | E-Value | Type |
PHD
|
24 |
72 |
8.51e-8 |
SMART |
PHD
|
136 |
195 |
2.92e-6 |
SMART |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
low complexity region
|
308 |
326 |
N/A |
INTRINSIC |
low complexity region
|
352 |
372 |
N/A |
INTRINSIC |
low complexity region
|
490 |
515 |
N/A |
INTRINSIC |
low complexity region
|
581 |
594 |
N/A |
INTRINSIC |
low complexity region
|
609 |
627 |
N/A |
INTRINSIC |
low complexity region
|
674 |
692 |
N/A |
INTRINSIC |
coiled coil region
|
741 |
782 |
N/A |
INTRINSIC |
low complexity region
|
836 |
879 |
N/A |
INTRINSIC |
low complexity region
|
941 |
952 |
N/A |
INTRINSIC |
low complexity region
|
966 |
986 |
N/A |
INTRINSIC |
low complexity region
|
997 |
1018 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114669
|
SMART Domains |
Protein: ENSMUSP00000110317 Gene: ENSMUSG00000026743
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
low complexity region
|
66 |
84 |
N/A |
INTRINSIC |
low complexity region
|
131 |
149 |
N/A |
INTRINSIC |
coiled coil region
|
198 |
239 |
N/A |
INTRINSIC |
low complexity region
|
293 |
336 |
N/A |
INTRINSIC |
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
low complexity region
|
423 |
443 |
N/A |
INTRINSIC |
low complexity region
|
454 |
475 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114671
AA Change: K117T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110319 Gene: ENSMUSG00000026743 AA Change: K117T
Domain | Start | End | E-Value | Type |
PHD
|
58 |
117 |
2.92e-6 |
SMART |
low complexity region
|
139 |
170 |
N/A |
INTRINSIC |
low complexity region
|
180 |
196 |
N/A |
INTRINSIC |
low complexity region
|
230 |
248 |
N/A |
INTRINSIC |
low complexity region
|
274 |
294 |
N/A |
INTRINSIC |
low complexity region
|
412 |
437 |
N/A |
INTRINSIC |
low complexity region
|
503 |
516 |
N/A |
INTRINSIC |
low complexity region
|
531 |
549 |
N/A |
INTRINSIC |
low complexity region
|
596 |
614 |
N/A |
INTRINSIC |
coiled coil region
|
663 |
704 |
N/A |
INTRINSIC |
low complexity region
|
758 |
801 |
N/A |
INTRINSIC |
low complexity region
|
863 |
874 |
N/A |
INTRINSIC |
low complexity region
|
888 |
908 |
N/A |
INTRINSIC |
low complexity region
|
919 |
940 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114680
AA Change: K195T
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110328 Gene: ENSMUSG00000026743 AA Change: K195T
Domain | Start | End | E-Value | Type |
PHD
|
24 |
72 |
8.51e-8 |
SMART |
PHD
|
136 |
195 |
2.92e-6 |
SMART |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
low complexity region
|
308 |
326 |
N/A |
INTRINSIC |
low complexity region
|
352 |
372 |
N/A |
INTRINSIC |
low complexity region
|
490 |
515 |
N/A |
INTRINSIC |
low complexity region
|
581 |
594 |
N/A |
INTRINSIC |
low complexity region
|
609 |
627 |
N/A |
INTRINSIC |
low complexity region
|
674 |
692 |
N/A |
INTRINSIC |
coiled coil region
|
741 |
782 |
N/A |
INTRINSIC |
low complexity region
|
836 |
879 |
N/A |
INTRINSIC |
low complexity region
|
941 |
952 |
N/A |
INTRINSIC |
low complexity region
|
966 |
986 |
N/A |
INTRINSIC |
low complexity region
|
997 |
1018 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133649
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148229
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150422
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154041
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
96% (48/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
C |
17: 48,347,945 (GRCm39) |
S120G |
probably benign |
Het |
Abca13 |
G |
A |
11: 9,259,139 (GRCm39) |
|
probably null |
Het |
Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
Adgra3 |
T |
A |
5: 50,136,478 (GRCm39) |
D669V |
probably benign |
Het |
Adgra3 |
T |
A |
5: 50,147,592 (GRCm39) |
M483L |
probably benign |
Het |
Ccdc42 |
T |
C |
11: 68,485,191 (GRCm39) |
V88A |
probably damaging |
Het |
Cdh16 |
G |
C |
8: 105,343,624 (GRCm39) |
S624C |
probably damaging |
Het |
Cpt1c |
A |
T |
7: 44,616,219 (GRCm39) |
|
probably null |
Het |
Cul9 |
T |
C |
17: 46,822,241 (GRCm39) |
T1795A |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,339,053 (GRCm39) |
V3098I |
probably damaging |
Het |
Fbxl16 |
T |
C |
17: 26,037,919 (GRCm39) |
L426P |
probably damaging |
Het |
Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
Fmo5 |
T |
C |
3: 97,552,991 (GRCm39) |
V313A |
probably benign |
Het |
Foxj3 |
A |
G |
4: 119,442,975 (GRCm39) |
N133S |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,162,926 (GRCm39) |
I489M |
possibly damaging |
Het |
Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Hdgfl1 |
T |
G |
13: 26,953,733 (GRCm39) |
E113D |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,997,949 (GRCm39) |
S317T |
possibly damaging |
Het |
Hycc2 |
A |
G |
1: 58,596,471 (GRCm39) |
V38A |
probably damaging |
Het |
Insr |
C |
T |
8: 3,223,479 (GRCm39) |
|
probably null |
Het |
Iqcf5 |
A |
G |
9: 106,392,929 (GRCm39) |
E62G |
possibly damaging |
Het |
Kcnj3 |
G |
A |
2: 55,327,561 (GRCm39) |
V117I |
probably benign |
Het |
Klf9 |
T |
A |
19: 23,119,138 (GRCm39) |
M7K |
probably benign |
Het |
Mboat1 |
G |
A |
13: 30,386,403 (GRCm39) |
G139E |
possibly damaging |
Het |
Mical3 |
T |
C |
6: 120,929,434 (GRCm39) |
T1811A |
probably damaging |
Het |
Mpped1 |
A |
G |
15: 83,720,564 (GRCm39) |
D8G |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,143,108 (GRCm39) |
D1012V |
probably damaging |
Het |
Myo9b |
C |
A |
8: 71,801,054 (GRCm39) |
P1070T |
probably benign |
Het |
Myo9b |
C |
T |
8: 71,801,055 (GRCm39) |
P1071L |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,072,527 (GRCm39) |
I439F |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,257,051 (GRCm39) |
I134N |
probably damaging |
Het |
Nop2 |
C |
T |
6: 125,114,170 (GRCm39) |
T212M |
probably benign |
Het |
Notch4 |
T |
C |
17: 34,786,435 (GRCm39) |
C188R |
probably damaging |
Het |
Or10q12 |
A |
T |
19: 13,745,828 (GRCm39) |
M41L |
probably benign |
Het |
Or2ag19 |
G |
T |
7: 106,444,429 (GRCm39) |
V204F |
probably damaging |
Het |
Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
Plet1 |
T |
C |
9: 50,412,407 (GRCm39) |
S142P |
probably damaging |
Het |
Ptk7 |
A |
T |
17: 46,887,816 (GRCm39) |
W539R |
probably benign |
Het |
Ptprd |
A |
T |
4: 76,009,789 (GRCm39) |
|
probably null |
Het |
Rgs22 |
T |
G |
15: 36,093,067 (GRCm39) |
Q402P |
probably damaging |
Het |
Rpl10a |
T |
C |
17: 28,549,820 (GRCm39) |
V167A |
possibly damaging |
Het |
Sdr16c5 |
A |
G |
4: 4,016,421 (GRCm39) |
S2P |
probably benign |
Het |
Slc14a2 |
T |
C |
18: 78,252,309 (GRCm39) |
M1V |
probably null |
Het |
Spta1 |
T |
A |
1: 174,039,212 (GRCm39) |
M1185K |
possibly damaging |
Het |
Syde2 |
G |
T |
3: 145,704,229 (GRCm39) |
E127* |
probably null |
Het |
Thoc2l |
A |
G |
5: 104,668,064 (GRCm39) |
E862G |
probably benign |
Het |
Ugt2b38 |
T |
A |
5: 87,571,860 (GRCm39) |
R57S |
possibly damaging |
Het |
Wdr11 |
C |
T |
7: 129,208,399 (GRCm39) |
L385F |
possibly damaging |
Het |
Wdr74 |
T |
C |
19: 8,716,822 (GRCm39) |
V200A |
possibly damaging |
Het |
|
Other mutations in Mllt10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01646:Mllt10
|
APN |
2 |
18,127,128 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02366:Mllt10
|
APN |
2 |
18,069,898 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02990:Mllt10
|
APN |
2 |
18,128,522 (GRCm39) |
splice site |
probably benign |
|
IGL03034:Mllt10
|
APN |
2 |
18,069,847 (GRCm39) |
start codon destroyed |
probably null |
0.55 |
R0348:Mllt10
|
UTSW |
2 |
18,167,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R0487:Mllt10
|
UTSW |
2 |
18,211,948 (GRCm39) |
missense |
probably damaging |
0.98 |
R0492:Mllt10
|
UTSW |
2 |
18,151,698 (GRCm39) |
splice site |
probably benign |
|
R0518:Mllt10
|
UTSW |
2 |
18,076,017 (GRCm39) |
critical splice donor site |
probably null |
|
R0720:Mllt10
|
UTSW |
2 |
18,201,406 (GRCm39) |
missense |
probably benign |
|
R0733:Mllt10
|
UTSW |
2 |
18,208,577 (GRCm39) |
intron |
probably benign |
|
R1532:Mllt10
|
UTSW |
2 |
18,097,646 (GRCm39) |
critical splice donor site |
probably null |
|
R1665:Mllt10
|
UTSW |
2 |
18,213,601 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1768:Mllt10
|
UTSW |
2 |
18,167,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R2098:Mllt10
|
UTSW |
2 |
18,167,464 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2114:Mllt10
|
UTSW |
2 |
18,167,380 (GRCm39) |
missense |
probably benign |
|
R2116:Mllt10
|
UTSW |
2 |
18,167,380 (GRCm39) |
missense |
probably benign |
|
R2117:Mllt10
|
UTSW |
2 |
18,167,380 (GRCm39) |
missense |
probably benign |
|
R2179:Mllt10
|
UTSW |
2 |
18,215,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R2192:Mllt10
|
UTSW |
2 |
18,211,871 (GRCm39) |
missense |
probably benign |
0.11 |
R2510:Mllt10
|
UTSW |
2 |
18,069,935 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2511:Mllt10
|
UTSW |
2 |
18,069,935 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4669:Mllt10
|
UTSW |
2 |
18,208,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Mllt10
|
UTSW |
2 |
18,175,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R5072:Mllt10
|
UTSW |
2 |
18,114,685 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5187:Mllt10
|
UTSW |
2 |
18,213,585 (GRCm39) |
nonsense |
probably null |
|
R5561:Mllt10
|
UTSW |
2 |
18,114,656 (GRCm39) |
missense |
probably damaging |
0.98 |
R6141:Mllt10
|
UTSW |
2 |
18,215,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R6844:Mllt10
|
UTSW |
2 |
18,164,294 (GRCm39) |
missense |
probably benign |
0.02 |
R7060:Mllt10
|
UTSW |
2 |
18,164,371 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7464:Mllt10
|
UTSW |
2 |
18,175,090 (GRCm39) |
missense |
probably benign |
|
R7691:Mllt10
|
UTSW |
2 |
18,208,423 (GRCm39) |
missense |
probably null |
0.94 |
R7691:Mllt10
|
UTSW |
2 |
18,208,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7937:Mllt10
|
UTSW |
2 |
18,210,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7956:Mllt10
|
UTSW |
2 |
18,175,068 (GRCm39) |
missense |
probably benign |
0.01 |
R7976:Mllt10
|
UTSW |
2 |
18,167,214 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8079:Mllt10
|
UTSW |
2 |
18,128,567 (GRCm39) |
missense |
probably damaging |
0.99 |
R8084:Mllt10
|
UTSW |
2 |
18,114,637 (GRCm39) |
missense |
probably damaging |
0.99 |
R8518:Mllt10
|
UTSW |
2 |
18,151,670 (GRCm39) |
missense |
probably damaging |
0.99 |
R8768:Mllt10
|
UTSW |
2 |
18,167,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R8826:Mllt10
|
UTSW |
2 |
18,167,353 (GRCm39) |
missense |
probably benign |
0.10 |
R8850:Mllt10
|
UTSW |
2 |
18,201,469 (GRCm39) |
missense |
probably benign |
0.33 |
R8932:Mllt10
|
UTSW |
2 |
18,128,617 (GRCm39) |
missense |
probably benign |
0.31 |
R9009:Mllt10
|
UTSW |
2 |
18,167,163 (GRCm39) |
missense |
probably damaging |
0.96 |
R9129:Mllt10
|
UTSW |
2 |
18,167,404 (GRCm39) |
missense |
probably benign |
0.41 |
R9514:Mllt10
|
UTSW |
2 |
18,164,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R9602:Mllt10
|
UTSW |
2 |
18,211,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R9706:Mllt10
|
UTSW |
2 |
18,151,655 (GRCm39) |
missense |
possibly damaging |
0.50 |
Z1177:Mllt10
|
UTSW |
2 |
18,175,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGCTGTCTTTCAGGTGCC -3'
(R):5'- GTCAATAAGGAACAGGCTAAATGTC -3'
Sequencing Primer
(F):5'- CTGTCTTTCAGGTGCCAAAAAGG -3'
(R):5'- CAGGCTAAATGTCTGCACTGG -3'
|
Posted On |
2018-04-27 |