Incidental Mutation 'R2098:Mllt10'
| ID |
230348 |
| 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 |
040102-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
R2098 (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 C
at 18167464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 385
(V385A)
|
| 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: V463A
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028076
Gene: ENSMUSG00000026743
AA Change: V463A
| 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 |
possibly damaging
Transcript: ENSMUST00000114671
AA Change: V385A
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110319
Gene: ENSMUSG00000026743
AA Change: V385A
| 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: V463A
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110328
Gene: ENSMUSG00000026743
AA Change: V463A
| 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: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,927,405 (GRCm39) |
E1316G |
probably damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,171,207 (GRCm39) |
T1329K |
probably damaging |
Het |
| Arhgef10l |
G |
C |
4: 140,306,743 (GRCm39) |
L104V |
probably damaging |
Het |
| Bend3 |
T |
C |
10: 43,386,500 (GRCm39) |
S298P |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,540,558 (GRCm39) |
V1385M |
probably damaging |
Het |
| Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
| Cd84 |
G |
A |
1: 171,713,148 (GRCm39) |
C291Y |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,863,457 (GRCm39) |
I113V |
probably benign |
Het |
| Cfap206 |
G |
A |
4: 34,719,053 (GRCm39) |
Q318* |
probably null |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Cyth1 |
T |
A |
11: 118,084,479 (GRCm39) |
I25F |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,609,832 (GRCm39) |
S203P |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,216,279 (GRCm39) |
N1208K |
probably benign |
Het |
| Ehbp1l1 |
G |
T |
19: 5,758,686 (GRCm39) |
T1652K |
possibly damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,935,705 (GRCm39) |
|
probably null |
Het |
| Fam3d |
T |
C |
14: 8,361,479 (GRCm38) |
I47V |
probably benign |
Het |
| Gm10250 |
A |
G |
15: 5,150,296 (GRCm39) |
|
probably benign |
Het |
| Gm9772 |
T |
C |
17: 22,225,618 (GRCm39) |
H94R |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,247,420 (GRCm39) |
G1184D |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,906,043 (GRCm39) |
D255V |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,932,064 (GRCm39) |
H1651R |
probably benign |
Het |
| Mmp1b |
G |
A |
9: 7,386,984 (GRCm39) |
S76L |
probably benign |
Het |
| Mrps2 |
C |
A |
2: 28,358,327 (GRCm39) |
T39K |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,188,808 (GRCm39) |
Y715H |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,441,055 (GRCm39) |
E392G |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,960,817 (GRCm39) |
E3374K |
probably damaging |
Het |
| Or2a20 |
G |
A |
6: 43,194,437 (GRCm39) |
V197I |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,215 (GRCm39) |
I89F |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,478 (GRCm39) |
V137A |
probably benign |
Het |
| Or5w13 |
A |
T |
2: 87,524,073 (GRCm39) |
M51K |
probably benign |
Het |
| Pkd2 |
C |
T |
5: 104,626,768 (GRCm39) |
P317S |
probably damaging |
Het |
| Prl5a1 |
T |
C |
13: 28,329,488 (GRCm39) |
S56P |
probably damaging |
Het |
| Psmd1 |
A |
G |
1: 86,009,823 (GRCm39) |
|
probably null |
Het |
| Ptchd3 |
T |
C |
11: 121,733,305 (GRCm39) |
C732R |
probably damaging |
Het |
| Rad51c |
A |
T |
11: 87,293,589 (GRCm39) |
V71E |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,621,560 (GRCm39) |
I619K |
possibly damaging |
Het |
| Sgpp1 |
T |
G |
12: 75,763,284 (GRCm39) |
D299A |
probably damaging |
Het |
| Slc16a4 |
C |
A |
3: 107,208,163 (GRCm39) |
Y224* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,378,175 (GRCm39) |
S167L |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,595,315 (GRCm39) |
I559T |
probably damaging |
Het |
| Spire1 |
A |
G |
18: 67,636,536 (GRCm39) |
F364L |
probably damaging |
Het |
| Srek1 |
G |
A |
13: 103,881,363 (GRCm39) |
T421I |
unknown |
Het |
| St8sia4 |
T |
C |
1: 95,581,253 (GRCm39) |
H163R |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,104,087 (GRCm39) |
|
probably null |
Het |
| Tas2r103 |
T |
C |
6: 133,013,560 (GRCm39) |
T169A |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,073,823 (GRCm39) |
S308P |
probably damaging |
Het |
| V1rd19 |
C |
T |
7: 23,703,160 (GRCm39) |
L209F |
probably damaging |
Het |
| Zfp267 |
T |
A |
3: 36,220,289 (GRCm39) |
S771T |
probably benign |
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 |
|
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'- GCGAAGTGACAGTTACACTCAC -3'
(R):5'- ATTCCTGAGCAGCGTAGGAG -3'
Sequencing Primer
(F):5'- GTGACAGTTACACTCACACCCAG -3'
(R):5'- CCTGAGCAGCGTAGGAGATTTC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation