Incidental Mutation 'R0487:Mllt10'
| ID |
42320 |
| 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 |
038686-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.701)
|
| Stock # |
R0487 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
18060048-18217199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18211948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 411
(T411A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028076]
[ENSMUST00000091418]
[ENSMUST00000114669]
[ENSMUST00000114671]
[ENSMUST00000114680]
|
| AlphaFold |
O54826 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028076
AA Change: T954A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028076
Gene: ENSMUSG00000026743
AA Change: T954A
| 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: ENSMUST00000091418
|
| SMART Domains |
Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
43 |
N/A |
INTRINSIC |
|
DnaJ
|
60 |
117 |
5.73e-23 |
SMART |
|
transmembrane domain
|
149 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
|
SANT
|
324 |
375 |
2.06e-6 |
SMART |
|
low complexity region
|
416 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
451 |
N/A |
INTRINSIC |
|
SANT
|
491 |
543 |
3.56e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114669
AA Change: T411A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110317
Gene: ENSMUSG00000026743
AA Change: T411A
| 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 benign
Transcript: ENSMUST00000114671
AA Change: T876A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110319
Gene: ENSMUSG00000026743
AA Change: T876A
| 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: T954A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110328
Gene: ENSMUSG00000026743
AA Change: T954A
| 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: ENSMUST00000148401
|
| SMART Domains |
Protein: ENSMUSP00000132289
Gene: ENSMUSG00000026740
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
2 |
49 |
1.74e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172210
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,281,687 (GRCm39) |
M3190L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,637,154 (GRCm39) |
L3429H |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,984,515 (GRCm39) |
N1933S |
probably benign |
Het |
| Amacr |
A |
G |
15: 10,984,835 (GRCm39) |
D151G |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,687,762 (GRCm39) |
H255Q |
possibly damaging |
Het |
| Asphd2 |
A |
T |
5: 112,539,501 (GRCm39) |
Y111N |
possibly damaging |
Het |
| Cage1 |
T |
A |
13: 38,209,334 (GRCm39) |
K214N |
probably benign |
Het |
| Cdkn2c |
A |
G |
4: 109,518,606 (GRCm39) |
L116P |
probably damaging |
Het |
| Cltc |
C |
T |
11: 86,624,490 (GRCm39) |
R148H |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,582,176 (GRCm39) |
N58D |
probably damaging |
Het |
| Cpa6 |
T |
C |
1: 10,479,487 (GRCm39) |
T249A |
possibly damaging |
Het |
| Cpsf1 |
T |
A |
15: 76,481,202 (GRCm39) |
N1218I |
probably damaging |
Het |
| Csf2rb |
T |
C |
15: 78,232,531 (GRCm39) |
S613P |
probably benign |
Het |
| Ctnnd1 |
A |
G |
2: 84,439,411 (GRCm39) |
S761P |
probably damaging |
Het |
| Cxcr6 |
A |
C |
9: 123,639,463 (GRCm39) |
I155L |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,819,155 (GRCm39) |
V1265A |
probably damaging |
Het |
| Fam216a |
A |
G |
5: 122,508,576 (GRCm39) |
|
probably null |
Het |
| Fgf10 |
T |
A |
13: 118,918,147 (GRCm39) |
|
probably null |
Het |
| Fgf17 |
T |
C |
14: 70,875,996 (GRCm39) |
T79A |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gm1527 |
G |
T |
3: 28,980,828 (GRCm39) |
V643L |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,276,689 (GRCm39) |
Q1556L |
possibly damaging |
Het |
| Hspa4l |
C |
T |
3: 40,738,758 (GRCm39) |
T616I |
possibly damaging |
Het |
| Irag2 |
A |
G |
6: 145,110,986 (GRCm39) |
S264G |
probably benign |
Het |
| Irgm1 |
T |
C |
11: 48,757,154 (GRCm39) |
D219G |
probably damaging |
Het |
| Jcad |
A |
G |
18: 4,673,243 (GRCm39) |
D335G |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,641,084 (GRCm39) |
F455S |
probably damaging |
Het |
| Khdrbs3 |
T |
C |
15: 68,889,210 (GRCm39) |
Y120H |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,493,939 (GRCm39) |
T507S |
probably null |
Het |
| Lepr |
G |
T |
4: 101,625,290 (GRCm39) |
E482* |
probably null |
Het |
| Mcemp1 |
T |
A |
8: 3,717,507 (GRCm39) |
M146K |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,192,837 (GRCm39) |
I1543L |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,797,258 (GRCm39) |
S147P |
probably damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Or5j1 |
C |
T |
2: 86,878,837 (GRCm39) |
V248I |
probably damaging |
Het |
| Plaat1 |
G |
A |
16: 29,039,331 (GRCm39) |
|
probably null |
Het |
| Plch2 |
G |
A |
4: 155,093,469 (GRCm39) |
R57C |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,626 (GRCm39) |
G872R |
probably damaging |
Het |
| Retsat |
A |
T |
6: 72,583,414 (GRCm39) |
I373F |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,446,056 (GRCm39) |
F297L |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,031,204 (GRCm39) |
M479K |
possibly damaging |
Het |
| Rubcnl |
T |
A |
14: 75,273,521 (GRCm39) |
N244K |
probably benign |
Het |
| Samhd1 |
A |
G |
2: 156,952,535 (GRCm39) |
F406L |
probably damaging |
Het |
| Sdsl |
A |
T |
5: 120,597,533 (GRCm39) |
V258D |
probably damaging |
Het |
| Sec24c |
C |
G |
14: 20,733,467 (GRCm39) |
P166A |
probably benign |
Het |
| Sele |
C |
A |
1: 163,881,184 (GRCm39) |
Y461* |
probably null |
Het |
| Slc22a1 |
G |
T |
17: 12,881,487 (GRCm39) |
S334* |
probably null |
Het |
| Spem1 |
T |
G |
11: 69,712,691 (GRCm39) |
|
probably null |
Het |
| Stat3 |
T |
C |
11: 100,794,469 (GRCm39) |
E280G |
probably damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,483,186 (GRCm39) |
H280R |
probably benign |
Het |
| Tas2r129 |
G |
A |
6: 132,928,906 (GRCm39) |
C281Y |
probably benign |
Het |
| Tas2r129 |
T |
G |
6: 132,928,907 (GRCm39) |
C281W |
probably benign |
Het |
| Tcp11 |
T |
A |
17: 28,298,897 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
G |
A |
15: 80,764,876 (GRCm39) |
V793M |
probably benign |
Het |
| Vmn2r59 |
A |
C |
7: 41,696,528 (GRCm39) |
Y71* |
probably null |
Het |
| Wdr35 |
T |
C |
12: 9,062,743 (GRCm39) |
|
probably null |
Het |
| Zan |
A |
G |
5: 137,411,620 (GRCm39) |
|
probably null |
Het |
| Zap70 |
G |
T |
1: 36,818,365 (GRCm39) |
V351L |
probably damaging |
Het |
| Zfp609 |
G |
T |
9: 65,609,916 (GRCm39) |
Q1016K |
unknown |
Het |
| Zfp641 |
C |
A |
15: 98,187,060 (GRCm39) |
V188L |
probably benign |
Het |
| Zpld2 |
A |
T |
4: 133,930,089 (GRCm39) |
L72Q |
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 |
|
R0348:Mllt10
|
UTSW |
2 |
18,167,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTGACCTCCAGTGGACAAAGCACC -3'
(R):5'- TGTGCTGTTCAAATGTGAGGAGCC -3'
Sequencing Primer
(F):5'- AAGCACCAGCAGTTCTTCTG -3'
(R):5'- GTTTGATATCCCAGATCAGGACCG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation