Incidental Mutation 'R5561:Mllt10'
ID |
436575 |
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 |
043118-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.704)
|
Stock # |
R5561 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
18060048-18217199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18114656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 120
(M120K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028076]
[ENSMUST00000114671]
[ENSMUST00000114680]
|
AlphaFold |
O54826 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028076
AA Change: M120K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000028076 Gene: ENSMUSG00000026743 AA Change: M120K
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 |
possibly damaging
Transcript: ENSMUST00000114671
AA Change: M42K
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000110319 Gene: ENSMUSG00000026743 AA Change: M42K
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 damaging
Transcript: ENSMUST00000114680
AA Change: M120K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110328 Gene: ENSMUSG00000026743 AA Change: M120K
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: ENSMUST00000150422
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153279
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154041
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.4%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630095N17Rik |
T |
C |
1: 75,197,181 (GRCm39) |
|
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,624,683 (GRCm39) |
L3762P |
probably damaging |
Het |
Amn1 |
G |
A |
6: 149,086,522 (GRCm39) |
R4W |
probably damaging |
Het |
Atxn1 |
G |
T |
13: 45,720,347 (GRCm39) |
T516N |
possibly damaging |
Het |
Atxn7 |
A |
T |
14: 14,089,260 (GRCm38) |
T259S |
probably benign |
Het |
Bsn |
C |
G |
9: 107,982,710 (GRCm39) |
R3681P |
unknown |
Het |
C8b |
T |
C |
4: 104,641,645 (GRCm39) |
Y194H |
possibly damaging |
Het |
Ccdc110 |
T |
G |
8: 46,393,646 (GRCm39) |
S119R |
probably benign |
Het |
Ccdc202 |
C |
A |
14: 96,119,807 (GRCm39) |
A188E |
probably benign |
Het |
Ceacam20 |
A |
T |
7: 19,704,318 (GRCm39) |
Q123L |
possibly damaging |
Het |
Clip3 |
A |
G |
7: 29,998,274 (GRCm39) |
D240G |
possibly damaging |
Het |
Col24a1 |
T |
C |
3: 145,004,588 (GRCm39) |
F22S |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,227,860 (GRCm39) |
M354L |
probably benign |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dnase1l3 |
A |
G |
14: 7,967,847 (GRCm38) |
V282A |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,364,028 (GRCm39) |
G4127S |
probably damaging |
Het |
Eed |
G |
A |
7: 89,617,001 (GRCm39) |
R165W |
probably damaging |
Het |
Ephb2 |
C |
T |
4: 136,388,717 (GRCm39) |
V627M |
probably damaging |
Het |
Fancc |
T |
C |
13: 63,465,201 (GRCm39) |
E502G |
possibly damaging |
Het |
Fbf1 |
T |
C |
11: 116,048,646 (GRCm39) |
D105G |
probably damaging |
Het |
Fer |
T |
A |
17: 64,344,580 (GRCm39) |
Y246* |
probably null |
Het |
Fer1l6 |
A |
G |
15: 58,532,674 (GRCm39) |
K1792E |
probably damaging |
Het |
Foxi2 |
A |
G |
7: 135,013,376 (GRCm39) |
D202G |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
H2-DMb2 |
G |
T |
17: 34,364,445 (GRCm39) |
|
probably null |
Het |
Helq |
G |
T |
5: 100,934,916 (GRCm39) |
D491E |
probably benign |
Het |
Hgsnat |
A |
G |
8: 26,436,362 (GRCm39) |
V564A |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hs3st5 |
T |
A |
10: 36,709,425 (GRCm39) |
V320D |
probably damaging |
Het |
Ifit1bl1 |
A |
T |
19: 34,571,197 (GRCm39) |
L420* |
probably null |
Het |
Ift80 |
T |
G |
3: 68,875,196 (GRCm39) |
N178T |
probably benign |
Het |
Ing4 |
C |
T |
6: 125,024,023 (GRCm39) |
T89I |
possibly damaging |
Het |
Lcp1 |
G |
A |
14: 75,449,948 (GRCm39) |
D386N |
probably benign |
Het |
Mdc1 |
T |
A |
17: 36,159,438 (GRCm39) |
I606K |
probably benign |
Het |
Morc1 |
G |
T |
16: 48,269,711 (GRCm39) |
L89F |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Nav3 |
C |
A |
10: 109,552,413 (GRCm39) |
D1810Y |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,926,919 (GRCm39) |
T5532M |
probably damaging |
Het |
Opn3 |
C |
T |
1: 175,493,153 (GRCm39) |
R137H |
probably damaging |
Het |
Or12j2 |
C |
T |
7: 139,916,065 (GRCm39) |
Q97* |
probably null |
Het |
Or2d36 |
A |
G |
7: 106,747,297 (GRCm39) |
N258S |
probably benign |
Het |
Palld |
G |
A |
8: 61,969,619 (GRCm39) |
A993V |
probably damaging |
Het |
Ppp1r12c |
A |
T |
7: 4,489,355 (GRCm39) |
|
probably null |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
A |
T |
3: 78,995,950 (GRCm39) |
|
probably null |
Het |
Ring1 |
T |
C |
17: 34,240,432 (GRCm39) |
E382G |
possibly damaging |
Het |
Rpl22l1 |
T |
A |
3: 28,860,969 (GRCm39) |
N61K |
probably benign |
Het |
Rpp14 |
A |
G |
14: 8,090,558 (GRCm38) |
|
probably null |
Het |
Rusc2 |
C |
T |
4: 43,415,932 (GRCm39) |
Q413* |
probably null |
Het |
Slco3a1 |
A |
G |
7: 73,968,247 (GRCm39) |
I491T |
possibly damaging |
Het |
Smtnl1 |
C |
T |
2: 84,648,739 (GRCm39) |
V172I |
probably benign |
Het |
Spats2l |
T |
A |
1: 57,939,780 (GRCm39) |
|
probably null |
Het |
Spire1 |
T |
A |
18: 67,639,716 (GRCm39) |
N266Y |
probably damaging |
Het |
Stox2 |
T |
C |
8: 47,646,041 (GRCm39) |
H473R |
probably damaging |
Het |
Syne2 |
C |
T |
12: 76,141,232 (GRCm39) |
R121* |
probably null |
Het |
Synrg |
G |
A |
11: 83,893,066 (GRCm39) |
|
probably null |
Het |
Tm9sf1 |
C |
T |
14: 55,875,554 (GRCm39) |
V397M |
probably damaging |
Het |
Trabd |
T |
C |
15: 88,966,187 (GRCm39) |
M48T |
probably benign |
Het |
Ttn |
T |
A |
2: 76,537,577 (GRCm39) |
I26457F |
possibly damaging |
Het |
Uggt2 |
C |
T |
14: 119,278,939 (GRCm39) |
R856Q |
probably benign |
Het |
Ugt1a5 |
T |
A |
1: 88,094,039 (GRCm39) |
M89K |
probably benign |
Het |
Vmn2r53 |
A |
T |
7: 12,335,347 (GRCm39) |
S104R |
probably damaging |
Het |
Zdhhc12 |
A |
T |
2: 29,982,496 (GRCm39) |
L53Q |
probably null |
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 |
|
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'- CAGCAGCCAGAGTTTTATTACGG -3'
(R):5'- GCAAGAGGTCAGTAAATCTTCAAAG -3'
Sequencing Primer
(F):5'- CAGCCAGAGTTTTATTACGGTTTTG -3'
(R):5'- GGCTCAAGATGGTAACTATTTTTCTC -3'
|
Posted On |
2016-10-24 |