Incidental Mutation 'R9602:Mllt10'
| ID |
723709 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
R9602 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
18060048-18217199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18211850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 921
(V921A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028076]
[ENSMUST00000091418]
[ENSMUST00000114669]
[ENSMUST00000114671]
[ENSMUST00000114680]
|
| AlphaFold |
O54826 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028076
AA Change: V921A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028076
Gene: ENSMUSG00000026743
AA Change: V921A
| 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: V378A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110317
Gene: ENSMUSG00000026743
AA Change: V378A
| 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: V843A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110319
Gene: ENSMUSG00000026743
AA Change: V843A
| 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: V921A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110328
Gene: ENSMUSG00000026743
AA Change: V921A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,910,261 (GRCm39) |
S125L |
possibly damaging |
Het |
| Abca3 |
T |
C |
17: 24,617,378 (GRCm39) |
V1025A |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,303,402 (GRCm39) |
K175R |
probably damaging |
Het |
| Arhgap39 |
A |
C |
15: 76,610,954 (GRCm39) |
S885R |
probably damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,895,676 (GRCm39) |
Y951H |
probably damaging |
Het |
| Bbs1 |
G |
A |
19: 4,941,083 (GRCm39) |
L544F |
probably damaging |
Het |
| Bcar1 |
C |
T |
8: 112,440,498 (GRCm39) |
E499K |
probably benign |
Het |
| Brinp3 |
C |
T |
1: 146,622,234 (GRCm39) |
T212I |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,868,823 (GRCm39) |
I105F |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,801,049 (GRCm39) |
E123G |
probably damaging |
Het |
| Col14a1 |
C |
A |
15: 55,351,345 (GRCm39) |
D1557E |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,731,497 (GRCm39) |
N1585K |
probably benign |
Het |
| Cox6a1 |
G |
A |
5: 115,486,934 (GRCm39) |
P26S |
unknown |
Het |
| Epb41l1 |
G |
T |
2: 156,367,068 (GRCm39) |
D646Y |
probably damaging |
Het |
| Fbxw10 |
G |
T |
11: 62,750,782 (GRCm39) |
R455L |
possibly damaging |
Het |
| Fmnl2 |
T |
C |
2: 53,013,587 (GRCm39) |
|
probably null |
Het |
| Gata3 |
T |
A |
2: 9,863,297 (GRCm39) |
I406F |
possibly damaging |
Het |
| Gm14406 |
C |
T |
2: 177,261,028 (GRCm39) |
G417D |
probably damaging |
Het |
| Gpr31b |
C |
T |
17: 13,270,771 (GRCm39) |
G133S |
possibly damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,456,219 (GRCm39) |
D196E |
possibly damaging |
Het |
| Hcn2 |
A |
G |
10: 79,562,128 (GRCm39) |
I375V |
probably benign |
Het |
| Kctd20 |
T |
C |
17: 29,180,442 (GRCm39) |
M72T |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,205,696 (GRCm39) |
F408L |
probably damaging |
Het |
| Mn1 |
A |
T |
5: 111,565,449 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,708,284 (GRCm39) |
D488E |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,417,211 (GRCm39) |
D3386Y |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,769,269 (GRCm39) |
|
probably null |
Het |
| Nudt7 |
T |
C |
8: 114,878,499 (GRCm39) |
F176L |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,981,385 (GRCm39) |
Y1878H |
probably damaging |
Het |
| Or6c5b |
A |
T |
10: 129,245,802 (GRCm39) |
D189V |
probably damaging |
Het |
| Pabpn1l |
T |
A |
8: 123,347,101 (GRCm39) |
T250S |
probably benign |
Het |
| Prr11 |
C |
T |
11: 86,987,998 (GRCm39) |
D302N |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,445 (GRCm39) |
V1121D |
possibly damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,096,448 (GRCm39) |
V215A |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,681,844 (GRCm39) |
D35G |
probably benign |
Het |
| Rbm5 |
A |
G |
9: 107,629,152 (GRCm39) |
S348P |
probably benign |
Het |
| Rmdn2 |
G |
A |
17: 79,975,440 (GRCm39) |
G310R |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,353,162 (GRCm39) |
C144* |
probably null |
Het |
| Rreb1 |
T |
C |
13: 38,114,477 (GRCm39) |
I612T |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,071,353 (GRCm39) |
D1181V |
probably damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,609,356 (GRCm39) |
M324K |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc22a6 |
G |
T |
19: 8,598,560 (GRCm39) |
E206* |
probably null |
Het |
| Smg5 |
T |
C |
3: 88,250,214 (GRCm39) |
C109R |
probably damaging |
Het |
| Socs7 |
A |
G |
11: 97,267,837 (GRCm39) |
T323A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,183 (GRCm39) |
N1148S |
unknown |
Het |
| Tek |
C |
G |
4: 94,715,968 (GRCm39) |
I463M |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,163 (GRCm39) |
D206G |
probably damaging |
Het |
| Upk3a |
C |
T |
15: 84,905,464 (GRCm39) |
P191L |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,780 (GRCm39) |
L592* |
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,214,880 (GRCm39) |
I288V |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,651,189 (GRCm39) |
S168T |
|
Het |
| Wnt5a |
C |
A |
14: 28,240,295 (GRCm39) |
N148K |
probably benign |
Het |
| Yipf5 |
T |
C |
18: 40,345,134 (GRCm39) |
Y82C |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,181,473 (GRCm39) |
C444S |
probably benign |
Het |
| Zpr1 |
A |
G |
9: 46,184,663 (GRCm39) |
N57D |
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 |
|
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 |
|
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'- AGCACCAGCAGTTCTTCTG -3'
(R):5'- AAGCAATCCATGAGTAGCTAGC -3'
Sequencing Primer
(F):5'- TCAGCAGAGCTCTGGAGTCAG -3'
(R):5'- GACAACACTAATAACATGTTGCATG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation