Incidental Mutation 'PIT4504001:Mllt3'
| ID |
556003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mllt3
|
| Ensembl Gene |
ENSMUSG00000028496 |
| Gene Name |
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3 |
| Synonyms |
Af9, D4Ertd321e, 2610012I03Rik, 3830408D16Rik, 2210011H10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4504001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
87769925-88033364 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87774087 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 546
(F546L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078090]
[ENSMUST00000126353]
[ENSMUST00000148059]
[ENSMUST00000149357]
|
| AlphaFold |
A2AM29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078090
AA Change: F546L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
AA Change: F546L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:YEATS
|
29 |
110 |
2.3e-29 |
PFAM |
|
SCOP:d1l9ha_
|
126 |
173 |
9e-3 |
SMART |
|
internal_repeat_1
|
195 |
214 |
9.17e-5 |
PROSPERO |
|
internal_repeat_1
|
206 |
225 |
9.17e-5 |
PROSPERO |
|
low complexity region
|
226 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
314 |
N/A |
INTRINSIC |
|
SCOP:d1qbkb_
|
315 |
467 |
7e-4 |
SMART |
|
PDB:2LM0|A
|
485 |
569 |
3e-48 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126353
AA Change: F115L
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129523
Gene: ENSMUSG00000028496
AA Change: F115L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
PDB:2LM0|A
|
76 |
138 |
1e-29 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148059
AA Change: F31L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131095
Gene: ENSMUSG00000028496
AA Change: F31L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LM0|A
|
1 |
54 |
6e-34 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149357
AA Change: F139L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128366
Gene: ENSMUSG00000028496
AA Change: F139L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
65 |
N/A |
INTRINSIC |
|
PDB:2LM0|A
|
76 |
162 |
4e-54 |
PDB |
|
| Coding Region Coverage |
- 1x: 92.8%
- 3x: 90.6%
- 10x: 84.7%
- 20x: 71.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: About 50% of homozygous null mice die perinatally while the remaining 50% become runted and die within two weeks of birth with severe defects of the axial skeleton, including anterior homeotic transformation of the cervical and thoracic regions, a deformed atlas and an extra cervical vertebra. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
A |
2: 103,717,192 (GRCm38) |
C970* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,559,352 (GRCm38) |
P1312S |
probably damaging |
Het |
| Als2cr12 |
T |
A |
1: 58,659,099 (GRCm38) |
I348F |
probably benign |
Het |
| Arid5a |
T |
C |
1: 36,317,625 (GRCm38) |
I116T |
probably damaging |
Het |
| Bank1 |
C |
A |
3: 136,100,419 (GRCm38) |
D485Y |
probably damaging |
Het |
| Cbln3 |
C |
T |
14: 55,883,499 (GRCm38) |
V122M |
probably damaging |
Het |
| Cox10 |
C |
T |
11: 63,964,216 (GRCm38) |
C413Y |
possibly damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,801,009 (GRCm38) |
D44V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 131,309,800 (GRCm38) |
N483K |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,534,011 (GRCm38) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 61,958,113 (GRCm38) |
T470A |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,040,004 (GRCm38) |
V44A |
probably benign |
Het |
| Dusp16 |
C |
A |
6: 134,739,883 (GRCm38) |
V154F |
possibly damaging |
Het |
| Ect2 |
G |
A |
3: 27,126,948 (GRCm38) |
R586* |
probably null |
Het |
| Ermard |
T |
A |
17: 15,058,822 (GRCm38) |
C460* |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,256,110 (GRCm38) |
G4020D |
possibly damaging |
Het |
| Galnt16 |
G |
T |
12: 80,592,417 (GRCm38) |
E402* |
probably null |
Het |
| Gm5414 |
T |
G |
15: 101,625,823 (GRCm38) |
D282A |
probably damaging |
Het |
| Gm6741 |
C |
T |
17: 91,236,916 (GRCm38) |
Q36* |
probably null |
Het |
| Gm7356 |
A |
T |
17: 14,001,458 (GRCm38) |
L103Q |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 117,975,875 (GRCm38) |
T792A |
possibly damaging |
Het |
| Hemgn |
T |
C |
4: 46,395,863 (GRCm38) |
N458D |
probably benign |
Het |
| Hesx1 |
C |
A |
14: 27,001,881 (GRCm38) |
D140E |
probably benign |
Het |
| Hfe2 |
A |
T |
3: 96,528,497 (GRCm38) |
D357V |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,663,097 (GRCm38) |
I163T |
possibly damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm38) |
T249A |
possibly damaging |
Het |
| Il33 |
A |
T |
19: 29,952,739 (GRCm38) |
H78L |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,041,935 (GRCm38) |
D691V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,229,871 (GRCm38) |
N1945I |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,579,027 (GRCm38) |
V122A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,475,403 (GRCm38) |
D2938G |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,608,537 (GRCm38) |
Y726F |
probably benign |
Het |
| Magi3 |
G |
T |
3: 104,015,526 (GRCm38) |
Q1292K |
probably benign |
Het |
| Mrpl14 |
A |
G |
17: 45,698,221 (GRCm38) |
K82R |
probably benign |
Het |
| Noxred1 |
A |
G |
12: 87,224,879 (GRCm38) |
V172A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 59,133,122 (GRCm38) |
I574N |
probably damaging |
Het |
| Olfr133 |
A |
G |
17: 38,149,169 (GRCm38) |
T194A |
probably benign |
Het |
| Olfr175-ps1 |
T |
A |
16: 58,824,308 (GRCm38) |
T134S |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,234,494 (GRCm38) |
V649D |
probably benign |
Het |
| Pdlim2 |
G |
T |
14: 70,166,130 (GRCm38) |
P278T |
probably benign |
Het |
| Pm20d2 |
A |
C |
4: 33,183,152 (GRCm38) |
L223V |
probably damaging |
Het |
| Pmpcb |
G |
T |
5: 21,743,390 (GRCm38) |
R223L |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,209,985 (GRCm38) |
Y255* |
probably null |
Het |
| Rims1 |
T |
A |
1: 22,397,460 (GRCm38) |
I317L |
|
Het |
| Scnn1g |
C |
A |
7: 121,742,331 (GRCm38) |
H239N |
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,103,110 (GRCm38) |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,293,657 (GRCm38) |
F1038I |
probably damaging |
Het |
| Tshz2 |
T |
C |
2: 169,886,051 (GRCm38) |
F856L |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,306,682 (GRCm38) |
S715P |
unknown |
Het |
| Usp13 |
A |
C |
3: 32,905,430 (GRCm38) |
S557R |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,492,970 (GRCm38) |
S43T |
probably benign |
Het |
| Vmn2r7 |
A |
T |
3: 64,715,976 (GRCm38) |
Y308N |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,198,621 (GRCm38) |
D32G |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,476,881 (GRCm38) |
|
probably null |
Het |
| Zfr |
A |
G |
15: 12,166,158 (GRCm38) |
E838G |
possibly damaging |
Het |
|
| Other mutations in Mllt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01074:Mllt3
|
APN |
4 |
87,791,881 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01078:Mllt3
|
APN |
4 |
87,880,060 (GRCm38) |
splice site |
probably benign |
|
|
IGL01337:Mllt3
|
APN |
4 |
87,840,820 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02664:Mllt3
|
APN |
4 |
88,031,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0226:Mllt3
|
UTSW |
4 |
87,840,732 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0415:Mllt3
|
UTSW |
4 |
87,841,339 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0540:Mllt3
|
UTSW |
4 |
87,841,044 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0618:Mllt3
|
UTSW |
4 |
87,841,267 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0932:Mllt3
|
UTSW |
4 |
87,789,384 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1713:Mllt3
|
UTSW |
4 |
87,783,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4748:Mllt3
|
UTSW |
4 |
87,840,781 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4928:Mllt3
|
UTSW |
4 |
87,782,405 (GRCm38) |
splice site |
probably null |
|
|
R5086:Mllt3
|
UTSW |
4 |
87,789,298 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5186:Mllt3
|
UTSW |
4 |
87,840,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5359:Mllt3
|
UTSW |
4 |
87,840,927 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5371:Mllt3
|
UTSW |
4 |
87,840,856 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R5713:Mllt3
|
UTSW |
4 |
87,841,211 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5787:Mllt3
|
UTSW |
4 |
87,840,820 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6346:Mllt3
|
UTSW |
4 |
87,841,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6462:Mllt3
|
UTSW |
4 |
87,774,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6621:Mllt3
|
UTSW |
4 |
87,840,797 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6629:Mllt3
|
UTSW |
4 |
87,841,267 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R7380:Mllt3
|
UTSW |
4 |
87,791,943 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7600:Mllt3
|
UTSW |
4 |
87,841,219 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8045:Mllt3
|
UTSW |
4 |
87,841,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8871:Mllt3
|
UTSW |
4 |
87,841,315 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R9281:Mllt3
|
UTSW |
4 |
87,789,329 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9300:Mllt3
|
UTSW |
4 |
87,774,047 (GRCm38) |
nonsense |
probably null |
|
|
R9341:Mllt3
|
UTSW |
4 |
87,873,931 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9343:Mllt3
|
UTSW |
4 |
87,873,931 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9544:Mllt3
|
UTSW |
4 |
87,841,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGGATTTCCTTGCAGAG -3'
(R):5'- CAGGTAGTTTGGAAATAGTATAGCC -3'
Sequencing Primer
(F):5'- GGTAACCTCTCCTTTATCAAGAGATG -3'
(R):5'- AGTTTGGAAATAGTATAGCCTTGTTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation