Incidental Mutation 'IGL01140:Mbtd1'
ID |
52376 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mbtd1
|
Ensembl Gene |
ENSMUSG00000059474 |
Gene Name |
mbt domain containing 1 |
Synonyms |
hemp |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01140
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
93776678-93837811 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93815258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 282
(E282G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103484
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063645]
[ENSMUST00000063718]
[ENSMUST00000107850]
[ENSMUST00000107852]
[ENSMUST00000107853]
[ENSMUST00000107854]
|
AlphaFold |
Q6P5G3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063645
AA Change: E282G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000070248 Gene: ENSMUSG00000059474 AA Change: E282G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
PDB:2W0T|A
|
52 |
74 |
7e-6 |
PDB |
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
MBT
|
144 |
248 |
3.11e-22 |
SMART |
MBT
|
256 |
357 |
1.28e-41 |
SMART |
MBT
|
361 |
459 |
1.61e-38 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063718
AA Change: E304G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000065442 Gene: ENSMUSG00000059474 AA Change: E304G
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
46 |
N/A |
INTRINSIC |
PDB:2W0T|A
|
74 |
96 |
7e-6 |
PDB |
low complexity region
|
97 |
112 |
N/A |
INTRINSIC |
low complexity region
|
136 |
152 |
N/A |
INTRINSIC |
MBT
|
166 |
270 |
3.11e-22 |
SMART |
MBT
|
278 |
379 |
1.28e-41 |
SMART |
MBT
|
383 |
481 |
1.61e-38 |
SMART |
MBT
|
489 |
585 |
4.11e-54 |
SMART |
low complexity region
|
586 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107850
|
SMART Domains |
Protein: ENSMUSP00000103482 Gene: ENSMUSG00000059474
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
Blast:MBT
|
25 |
52 |
2e-9 |
BLAST |
PDB:2W0T|A
|
52 |
74 |
2e-6 |
PDB |
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
PDB:4C5I|B
|
131 |
201 |
5e-37 |
PDB |
Blast:MBT
|
144 |
201 |
1e-35 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107852
AA Change: E282G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103484 Gene: ENSMUSG00000059474 AA Change: E282G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
PDB:2W0T|A
|
52 |
74 |
5e-6 |
PDB |
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
MBT
|
144 |
248 |
3.11e-22 |
SMART |
MBT
|
256 |
357 |
1.28e-41 |
SMART |
MBT
|
361 |
433 |
1.29e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107853
AA Change: E282G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103485 Gene: ENSMUSG00000059474 AA Change: E282G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
PDB:2W0T|A
|
52 |
74 |
1e-6 |
PDB |
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
MBT
|
144 |
248 |
1.2e-24 |
SMART |
MBT
|
256 |
357 |
4.8e-44 |
SMART |
MBT
|
361 |
459 |
6.1e-41 |
SMART |
MBT
|
467 |
563 |
1.6e-56 |
SMART |
low complexity region
|
564 |
592 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107854
AA Change: E282G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103486 Gene: ENSMUSG00000059474 AA Change: E282G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
PDB:2W0T|A
|
52 |
74 |
1e-6 |
PDB |
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
low complexity region
|
114 |
130 |
N/A |
INTRINSIC |
MBT
|
144 |
248 |
1.2e-24 |
SMART |
MBT
|
256 |
357 |
4.9e-44 |
SMART |
MBT
|
361 |
459 |
6.2e-41 |
SMART |
MBT
|
467 |
563 |
1.6e-56 |
SMART |
low complexity region
|
564 |
592 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138281
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155841
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155518
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140880
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality and severe abnormalities in hematopoietic stem cell function and skeletal formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afm |
A |
G |
5: 90,672,726 (GRCm39) |
E187G |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,256,317 (GRCm39) |
V205A |
probably damaging |
Het |
Atg16l1 |
A |
G |
1: 87,702,575 (GRCm39) |
I279V |
probably benign |
Het |
Atp2b2 |
C |
T |
6: 113,766,932 (GRCm39) |
V436I |
possibly damaging |
Het |
Cald1 |
T |
A |
6: 34,739,196 (GRCm39) |
S640T |
possibly damaging |
Het |
Cdc23 |
A |
G |
18: 34,769,385 (GRCm39) |
Y460H |
probably benign |
Het |
Cenpk |
T |
A |
13: 104,372,742 (GRCm39) |
|
probably benign |
Het |
Ctss |
A |
G |
3: 95,446,036 (GRCm39) |
E52G |
probably damaging |
Het |
Cuzd1 |
A |
T |
7: 130,913,523 (GRCm39) |
C365S |
probably damaging |
Het |
Cyp2c55 |
T |
C |
19: 39,007,093 (GRCm39) |
L163P |
probably benign |
Het |
Cyp4f37 |
T |
C |
17: 32,848,027 (GRCm39) |
S182P |
probably benign |
Het |
Flt4 |
G |
T |
11: 49,525,770 (GRCm39) |
E740* |
probably null |
Het |
Galntl6 |
T |
A |
8: 58,411,356 (GRCm39) |
R291S |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,124,694 (GRCm39) |
V568I |
probably benign |
Het |
Ift70a1 |
A |
G |
2: 75,810,259 (GRCm39) |
V608A |
probably benign |
Het |
Kcnab3 |
A |
G |
11: 69,220,705 (GRCm39) |
K145R |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,109,928 (GRCm39) |
V2183A |
probably benign |
Het |
Lrmda |
C |
T |
14: 22,646,585 (GRCm39) |
A75V |
possibly damaging |
Het |
Muc19 |
A |
T |
15: 91,783,593 (GRCm39) |
|
noncoding transcript |
Het |
Mug1 |
A |
G |
6: 121,859,693 (GRCm39) |
T1231A |
probably benign |
Het |
Nkpd1 |
A |
G |
7: 19,257,387 (GRCm39) |
T389A |
possibly damaging |
Het |
Nudt19 |
A |
G |
7: 35,247,336 (GRCm39) |
*358Q |
probably null |
Het |
Nup160 |
G |
T |
2: 90,530,909 (GRCm39) |
M522I |
possibly damaging |
Het |
Obsl1 |
T |
A |
1: 75,466,400 (GRCm39) |
|
probably benign |
Het |
Or4m1 |
T |
A |
14: 50,557,732 (GRCm39) |
I187F |
probably damaging |
Het |
Or5ak24 |
T |
C |
2: 85,260,484 (GRCm39) |
T230A |
probably benign |
Het |
Or5b119 |
G |
A |
19: 13,457,151 (GRCm39) |
T137I |
possibly damaging |
Het |
Osbpl10 |
C |
T |
9: 115,005,070 (GRCm39) |
P341S |
probably benign |
Het |
Papola |
C |
A |
12: 105,775,856 (GRCm39) |
C7* |
probably null |
Het |
Pld1 |
C |
A |
3: 28,132,386 (GRCm39) |
L525I |
probably benign |
Het |
Prom2 |
T |
C |
2: 127,373,125 (GRCm39) |
|
probably benign |
Het |
Psmb5 |
G |
A |
14: 54,855,264 (GRCm39) |
T62I |
possibly damaging |
Het |
Sag |
A |
G |
1: 87,751,086 (GRCm39) |
E184G |
probably benign |
Het |
Slc16a10 |
T |
C |
10: 39,952,921 (GRCm39) |
Y191C |
probably damaging |
Het |
Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
Ssx2ip |
A |
G |
3: 146,133,598 (GRCm39) |
Y231C |
probably benign |
Het |
Trib1 |
A |
G |
15: 59,523,476 (GRCm39) |
Y170C |
probably damaging |
Het |
Trmt10a |
G |
A |
3: 137,862,459 (GRCm39) |
|
probably benign |
Het |
Troap |
G |
T |
15: 98,980,027 (GRCm39) |
Q402H |
probably damaging |
Het |
Vmn2r70 |
G |
A |
7: 85,214,379 (GRCm39) |
Q258* |
probably null |
Het |
Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
Zmym1 |
A |
G |
4: 126,943,435 (GRCm39) |
F318L |
probably damaging |
Het |
Zswim2 |
A |
G |
2: 83,745,672 (GRCm39) |
S589P |
probably benign |
Het |
|
Other mutations in Mbtd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00814:Mbtd1
|
APN |
11 |
93,834,666 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00819:Mbtd1
|
APN |
11 |
93,822,637 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01553:Mbtd1
|
APN |
11 |
93,814,040 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01893:Mbtd1
|
APN |
11 |
93,812,238 (GRCm39) |
missense |
probably null |
|
IGL02218:Mbtd1
|
APN |
11 |
93,822,629 (GRCm39) |
splice site |
probably benign |
|
IGL02406:Mbtd1
|
APN |
11 |
93,799,684 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03002:Mbtd1
|
APN |
11 |
93,815,316 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03347:Mbtd1
|
APN |
11 |
93,814,005 (GRCm39) |
missense |
probably benign |
0.01 |
R0027:Mbtd1
|
UTSW |
11 |
93,815,375 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0027:Mbtd1
|
UTSW |
11 |
93,815,375 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0311:Mbtd1
|
UTSW |
11 |
93,812,183 (GRCm39) |
splice site |
probably null |
|
R0513:Mbtd1
|
UTSW |
11 |
93,823,038 (GRCm39) |
splice site |
probably null |
|
R0646:Mbtd1
|
UTSW |
11 |
93,796,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R0734:Mbtd1
|
UTSW |
11 |
93,813,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R0835:Mbtd1
|
UTSW |
11 |
93,822,665 (GRCm39) |
missense |
probably benign |
0.23 |
R1295:Mbtd1
|
UTSW |
11 |
93,801,185 (GRCm39) |
missense |
probably damaging |
0.99 |
R1296:Mbtd1
|
UTSW |
11 |
93,801,185 (GRCm39) |
missense |
probably damaging |
0.99 |
R1996:Mbtd1
|
UTSW |
11 |
93,823,222 (GRCm39) |
frame shift |
probably null |
|
R2157:Mbtd1
|
UTSW |
11 |
93,801,214 (GRCm39) |
missense |
probably benign |
0.20 |
R3977:Mbtd1
|
UTSW |
11 |
93,796,001 (GRCm39) |
missense |
probably benign |
|
R4435:Mbtd1
|
UTSW |
11 |
93,823,048 (GRCm39) |
missense |
probably benign |
|
R4589:Mbtd1
|
UTSW |
11 |
93,812,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R4647:Mbtd1
|
UTSW |
11 |
93,815,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R4824:Mbtd1
|
UTSW |
11 |
93,816,528 (GRCm39) |
missense |
probably benign |
0.00 |
R4919:Mbtd1
|
UTSW |
11 |
93,813,974 (GRCm39) |
splice site |
probably null |
|
R5045:Mbtd1
|
UTSW |
11 |
93,822,641 (GRCm39) |
missense |
probably benign |
0.26 |
R5095:Mbtd1
|
UTSW |
11 |
93,820,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R5227:Mbtd1
|
UTSW |
11 |
93,815,474 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5619:Mbtd1
|
UTSW |
11 |
93,820,705 (GRCm39) |
splice site |
probably null |
|
R6057:Mbtd1
|
UTSW |
11 |
93,820,485 (GRCm39) |
missense |
probably damaging |
0.99 |
R6293:Mbtd1
|
UTSW |
11 |
93,823,058 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6294:Mbtd1
|
UTSW |
11 |
93,823,058 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6295:Mbtd1
|
UTSW |
11 |
93,823,058 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6297:Mbtd1
|
UTSW |
11 |
93,823,058 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6998:Mbtd1
|
UTSW |
11 |
93,815,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R7423:Mbtd1
|
UTSW |
11 |
93,834,622 (GRCm39) |
missense |
probably benign |
0.38 |
R7519:Mbtd1
|
UTSW |
11 |
93,799,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R8250:Mbtd1
|
UTSW |
11 |
93,801,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9180:Mbtd1
|
UTSW |
11 |
93,823,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R9181:Mbtd1
|
UTSW |
11 |
93,803,241 (GRCm39) |
missense |
probably benign |
|
R9215:Mbtd1
|
UTSW |
11 |
93,834,628 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9446:Mbtd1
|
UTSW |
11 |
93,834,508 (GRCm39) |
missense |
unknown |
|
R9474:Mbtd1
|
UTSW |
11 |
93,816,511 (GRCm39) |
missense |
probably benign |
|
R9575:Mbtd1
|
UTSW |
11 |
93,799,764 (GRCm39) |
critical splice donor site |
probably null |
|
R9696:Mbtd1
|
UTSW |
11 |
93,823,218 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Mbtd1
|
UTSW |
11 |
93,815,375 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1177:Mbtd1
|
UTSW |
11 |
93,803,285 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-06-21 |