Incidental Mutation 'R6844:Mllt10'
| ID |
534654 |
| 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 |
044950-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
R6844 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
18060048-18217199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18164294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 197
(I197V)
|
| 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: I275V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000028076
Gene: ENSMUSG00000026743
AA Change: I275V
| 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: 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 benign
Transcript: ENSMUST00000114671
AA Change: I197V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000110319
Gene: ENSMUSG00000026743
AA Change: I197V
| 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: I275V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000110328
Gene: ENSMUSG00000026743
AA Change: I275V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
92% (36/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap18 |
G |
A |
10: 26,648,682 (GRCm39) |
A35T |
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,886,116 (GRCm39) |
S354P |
probably benign |
Het |
| Casq2 |
A |
T |
3: 102,017,578 (GRCm39) |
H86L |
possibly damaging |
Het |
| Ccdc188 |
G |
A |
16: 18,036,074 (GRCm39) |
G83E |
probably damaging |
Het |
| Cd22 |
G |
T |
7: 30,572,856 (GRCm39) |
|
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,122 (GRCm39) |
I178N |
probably damaging |
Het |
| Cyp4a31 |
T |
A |
4: 115,420,989 (GRCm39) |
C26S |
probably null |
Het |
| Eif3h |
T |
C |
15: 51,728,729 (GRCm39) |
D42G |
possibly damaging |
Het |
| Elovl4 |
T |
A |
9: 83,672,164 (GRCm39) |
I52L |
probably benign |
Het |
| Fgfbp3 |
C |
A |
19: 36,896,280 (GRCm39) |
A113S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,813,969 (GRCm39) |
K3429N |
possibly damaging |
Het |
| Gemin5 |
T |
C |
11: 58,054,730 (GRCm39) |
D224G |
probably benign |
Het |
| Gm3415 |
T |
C |
5: 146,494,811 (GRCm39) |
I158T |
probably benign |
Het |
| Gpr22 |
C |
A |
12: 31,759,951 (GRCm39) |
R20L |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,581,455 (GRCm39) |
K232E |
possibly damaging |
Het |
| Itgax |
T |
A |
7: 127,747,106 (GRCm39) |
|
probably null |
Het |
| Jag2 |
T |
C |
12: 112,880,334 (GRCm39) |
Y310C |
probably damaging |
Het |
| Lce1j |
A |
G |
3: 92,696,656 (GRCm39) |
S41P |
unknown |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
T |
A |
10: 88,372,243 (GRCm39) |
I796F |
possibly damaging |
Het |
| Nr2c1 |
T |
A |
10: 94,007,029 (GRCm39) |
L289* |
probably null |
Het |
| Omp |
T |
A |
7: 97,794,283 (GRCm39) |
M115L |
probably benign |
Het |
| Pdcd1 |
C |
T |
1: 93,967,106 (GRCm39) |
R264H |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,476,136 (GRCm39) |
F1119L |
probably benign |
Het |
| Ralyl |
A |
G |
3: 13,841,938 (GRCm39) |
T25A |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,064,970 (GRCm39) |
T656A |
probably damaging |
Het |
| Ripor3 |
C |
T |
2: 167,835,253 (GRCm39) |
|
probably null |
Het |
| Samd8 |
T |
C |
14: 21,825,205 (GRCm39) |
S54P |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,670,616 (GRCm39) |
I35F |
probably damaging |
Het |
| Shisa8 |
T |
C |
15: 82,096,310 (GRCm39) |
S102G |
probably damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,684,822 (GRCm39) |
S153T |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,376,831 (GRCm39) |
D1028E |
probably damaging |
Het |
| Slc6a13 |
T |
A |
6: 121,302,012 (GRCm39) |
I198N |
probably damaging |
Het |
| Sst |
C |
T |
16: 23,708,592 (GRCm39) |
D80N |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,026,081 (GRCm39) |
K47E |
probably damaging |
Het |
| Tal1 |
C |
T |
4: 114,920,464 (GRCm39) |
P46L |
probably benign |
Het |
| Top2b |
A |
T |
14: 16,429,383 (GRCm38) |
N1541I |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,877,736 (GRCm39) |
N2903K |
probably benign |
Het |
| Zfp949 |
A |
G |
9: 88,451,464 (GRCm39) |
T345A |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,395,644 (GRCm39) |
Y288H |
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 |
|
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 |
|
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'- TCCTGGAGATTGCAAAACAACC -3'
(R):5'- TGGATTTCTTCCTGCACCAG -3'
Sequencing Primer
(F):5'- CCCAAAAGGGTTGAAGTTGACTTC -3'
(R):5'- GCACCAGGCTTCCTTCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation