Incidental Mutation 'R0348:Mllt10'
ID |
35963 |
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 |
038555-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.704)
|
Stock # |
R0348 (G1)
|
Quality Score |
186 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
18060048-18217199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18167424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 372
(Y372H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028076]
[ENSMUST00000114669]
[ENSMUST00000114671]
[ENSMUST00000114680]
|
AlphaFold |
O54826 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028076
AA Change: Y450H
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000028076 Gene: ENSMUSG00000026743 AA Change: Y450H
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: ENSMUST00000083030
|
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: Y372H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110319 Gene: ENSMUSG00000026743 AA Change: Y372H
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 |
probably benign
Transcript: ENSMUST00000114680
AA Change: Y450H
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110328 Gene: ENSMUSG00000026743 AA Change: Y450H
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: ENSMUST00000148229
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
Validation Efficiency |
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921536K21Rik |
T |
C |
11: 3,844,987 (GRCm39) |
D34G |
probably benign |
Het |
Adam6a |
T |
C |
12: 113,508,337 (GRCm39) |
S237P |
probably damaging |
Het |
Adamts13 |
A |
C |
2: 26,871,092 (GRCm39) |
D235A |
probably benign |
Het |
Adgb |
T |
A |
10: 10,233,623 (GRCm39) |
M1259L |
probably benign |
Het |
Apbb1 |
T |
C |
7: 105,214,510 (GRCm39) |
Q529R |
probably damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,670,888 (GRCm39) |
T96A |
possibly damaging |
Het |
Ccdc148 |
A |
T |
2: 58,894,084 (GRCm39) |
|
probably null |
Het |
Cep170b |
T |
C |
12: 112,703,240 (GRCm39) |
Y568H |
probably damaging |
Het |
Clca4b |
A |
T |
3: 144,627,741 (GRCm39) |
I410N |
probably damaging |
Het |
Cnot10 |
G |
A |
9: 114,427,838 (GRCm39) |
T592I |
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,755,771 (GRCm39) |
A173T |
probably damaging |
Het |
Ctcf |
T |
A |
8: 106,402,789 (GRCm39) |
C560* |
probably null |
Het |
Daglb |
G |
A |
5: 143,472,951 (GRCm39) |
V369I |
probably benign |
Het |
Defb19 |
G |
A |
2: 152,422,146 (GRCm39) |
L8F |
unknown |
Het |
Emcn |
G |
T |
3: 137,078,608 (GRCm39) |
E65* |
probably null |
Het |
Etl4 |
G |
T |
2: 20,782,940 (GRCm39) |
R753L |
probably damaging |
Het |
Fam151b |
T |
C |
13: 92,586,689 (GRCm39) |
Y248C |
probably benign |
Het |
Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
Gjd4 |
A |
G |
18: 9,280,964 (GRCm39) |
V38A |
possibly damaging |
Het |
Hivep1 |
T |
C |
13: 42,311,855 (GRCm39) |
V1365A |
possibly damaging |
Het |
Hivep2 |
T |
C |
10: 14,005,702 (GRCm39) |
S767P |
possibly damaging |
Het |
Hoxa6 |
T |
C |
6: 52,183,548 (GRCm39) |
T166A |
possibly damaging |
Het |
Ift80 |
G |
T |
3: 68,843,232 (GRCm39) |
L367I |
probably benign |
Het |
Igf2bp1 |
T |
C |
11: 95,859,719 (GRCm39) |
N369S |
possibly damaging |
Het |
Igsf11 |
C |
A |
16: 38,829,179 (GRCm39) |
D24E |
probably benign |
Het |
Ints5 |
C |
T |
19: 8,873,114 (GRCm39) |
L358F |
probably damaging |
Het |
Kbtbd3 |
A |
G |
9: 4,330,519 (GRCm39) |
T298A |
possibly damaging |
Het |
Kif28 |
C |
A |
1: 179,558,818 (GRCm39) |
V297F |
probably damaging |
Het |
Krt12 |
T |
C |
11: 99,308,771 (GRCm39) |
Y422C |
probably damaging |
Het |
Lig1 |
T |
A |
7: 13,043,122 (GRCm39) |
W856R |
probably damaging |
Het |
Liph |
C |
T |
16: 21,786,730 (GRCm39) |
|
probably null |
Het |
Lrig3 |
T |
A |
10: 125,849,317 (GRCm39) |
C1012* |
probably null |
Het |
Lrit1 |
A |
G |
14: 36,782,182 (GRCm39) |
E285G |
probably damaging |
Het |
Lrrc31 |
A |
G |
3: 30,743,377 (GRCm39) |
V196A |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,712,363 (GRCm39) |
T487A |
probably benign |
Het |
Mrpl50 |
A |
T |
4: 49,514,515 (GRCm39) |
V52E |
probably damaging |
Het |
Mthfd1l |
T |
C |
10: 4,006,766 (GRCm39) |
V676A |
probably damaging |
Het |
Ncl |
C |
T |
1: 86,284,362 (GRCm39) |
D245N |
possibly damaging |
Het |
Neil1 |
A |
T |
9: 57,054,065 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
A |
G |
8: 106,818,827 (GRCm39) |
E515G |
probably damaging |
Het |
Nlrp4b |
A |
G |
7: 10,449,108 (GRCm39) |
E70G |
possibly damaging |
Het |
Nme3 |
A |
T |
17: 25,115,491 (GRCm39) |
I2F |
possibly damaging |
Het |
Nup210 |
G |
A |
6: 91,051,292 (GRCm39) |
H364Y |
probably benign |
Het |
Nxpe3 |
T |
A |
16: 55,686,898 (GRCm39) |
T37S |
probably benign |
Het |
Olfm1 |
T |
A |
2: 28,102,554 (GRCm39) |
M76K |
probably benign |
Het |
Pgbd5 |
A |
T |
8: 125,160,771 (GRCm39) |
V32E |
probably damaging |
Het |
Plcb4 |
T |
C |
2: 135,810,339 (GRCm39) |
M646T |
probably damaging |
Het |
Plekha7 |
G |
A |
7: 115,757,255 (GRCm39) |
P565L |
probably damaging |
Het |
Poc5 |
A |
G |
13: 96,535,374 (GRCm39) |
D213G |
probably null |
Het |
Poli |
A |
G |
18: 70,656,452 (GRCm39) |
I125T |
probably benign |
Het |
Ppm1f |
T |
C |
16: 16,721,254 (GRCm39) |
M1T |
probably null |
Het |
Psmd7 |
T |
C |
8: 108,307,523 (GRCm39) |
K320R |
unknown |
Het |
Rabggtb |
A |
G |
3: 153,615,954 (GRCm39) |
V128A |
probably damaging |
Het |
Rasa2 |
A |
T |
9: 96,454,012 (GRCm39) |
L308H |
probably damaging |
Het |
Serpina1d |
C |
T |
12: 103,730,034 (GRCm39) |
V383M |
probably benign |
Het |
Sipa1l1 |
T |
C |
12: 82,431,530 (GRCm39) |
|
probably null |
Het |
Sos1 |
T |
C |
17: 80,715,740 (GRCm39) |
T1006A |
probably benign |
Het |
Sugp1 |
T |
A |
8: 70,522,658 (GRCm39) |
Y453N |
probably damaging |
Het |
Taf3 |
A |
T |
2: 10,047,455 (GRCm39) |
D64E |
probably benign |
Het |
Tcf19 |
A |
T |
17: 35,826,801 (GRCm39) |
|
probably null |
Het |
Trim60 |
T |
A |
8: 65,453,868 (GRCm39) |
H127L |
probably damaging |
Het |
Tubb4a |
C |
T |
17: 57,387,770 (GRCm39) |
V419M |
probably damaging |
Het |
Vmn2r22 |
G |
T |
6: 123,614,684 (GRCm39) |
T302K |
probably damaging |
Het |
Vmn2r68 |
T |
G |
7: 84,870,884 (GRCm39) |
T800P |
possibly damaging |
Het |
Zfhx2 |
A |
C |
14: 55,300,965 (GRCm39) |
V2262G |
probably 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 |
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 |
R6352:Mllt10
|
UTSW |
2 |
18,128,604 (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'- GCGAAGTGACAGTTACACTCACACC -3'
(R):5'- GCAAACTTCCATTCCTGAGCAGCG -3'
Sequencing Primer
(F):5'- GTTACACTCACACCCAGCAG -3'
(R):5'- GAAGACTAGAGCTTGTTACACTTCC -3'
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Posted On |
2013-05-09 |