Incidental Mutation 'R6293:Mbtd1'
ID |
508568 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mbtd1
|
Ensembl Gene |
ENSMUSG00000059474 |
Gene Name |
mbt domain containing 1 |
Synonyms |
hemp |
MMRRC Submission |
044462-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6293 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
93776678-93837811 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 93823058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 493
(H493Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063645]
[ENSMUST00000063718]
[ENSMUST00000107852]
[ENSMUST00000107853]
[ENSMUST00000107854]
|
AlphaFold |
Q6P5G3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063645
|
SMART Domains |
Protein: ENSMUSP00000070248 Gene: ENSMUSG00000059474
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 |
possibly damaging
Transcript: ENSMUST00000063718
AA Change: H515Y
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000065442 Gene: ENSMUSG00000059474 AA Change: H515Y
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: ENSMUST00000107852
|
SMART Domains |
Protein: ENSMUSP00000103484 Gene: ENSMUSG00000059474
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 |
possibly damaging
Transcript: ENSMUST00000107853
AA Change: H493Y
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103485 Gene: ENSMUSG00000059474 AA Change: H493Y
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 |
possibly damaging
Transcript: ENSMUST00000107854
AA Change: H493Y
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103486 Gene: ENSMUSG00000059474 AA Change: H493Y
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: ENSMUST00000150237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155518
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155841
|
Meta Mutation Damage Score |
0.1237 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
Validation Efficiency |
98% (54/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,935,395 (GRCm39) |
D323G |
probably damaging |
Het |
Abcb1b |
T |
C |
5: 8,903,493 (GRCm39) |
I1048T |
probably benign |
Het |
Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
Alkbh8 |
G |
T |
9: 3,347,841 (GRCm39) |
L211F |
possibly damaging |
Het |
Ankrd27 |
T |
C |
7: 35,307,885 (GRCm39) |
S375P |
possibly damaging |
Het |
Apoc1 |
T |
A |
7: 19,425,817 (GRCm39) |
T68S |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,715,508 (GRCm39) |
Y1318N |
possibly damaging |
Het |
Camsap2 |
C |
A |
1: 136,215,658 (GRCm39) |
R345L |
probably damaging |
Het |
Ccdc38 |
C |
T |
10: 93,398,659 (GRCm39) |
Q46* |
probably null |
Het |
Cdk12 |
T |
A |
11: 98,115,379 (GRCm39) |
M840K |
unknown |
Het |
Cfap251 |
A |
C |
5: 123,460,511 (GRCm39) |
N1158H |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,521,640 (GRCm39) |
N2772K |
probably benign |
Het |
Dthd1 |
A |
G |
5: 63,000,193 (GRCm39) |
D505G |
probably damaging |
Het |
Elf1 |
C |
T |
14: 79,798,226 (GRCm39) |
H38Y |
probably damaging |
Het |
Gcnt2 |
T |
A |
13: 41,072,173 (GRCm39) |
V272D |
probably damaging |
Het |
Gm9964 |
T |
A |
11: 79,187,420 (GRCm39) |
K9M |
unknown |
Het |
Gpr155 |
A |
G |
2: 73,204,341 (GRCm39) |
S158P |
possibly damaging |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,324,543 (GRCm39) |
S4635G |
possibly damaging |
Het |
Lrch2 |
C |
T |
X: 146,263,553 (GRCm39) |
A369T |
probably damaging |
Homo |
Lrrc8c |
A |
G |
5: 105,754,612 (GRCm39) |
Y129C |
probably damaging |
Het |
Mcm3ap |
C |
G |
10: 76,307,312 (GRCm39) |
Y418* |
probably null |
Het |
Mpdz |
A |
G |
4: 81,278,293 (GRCm39) |
L764P |
probably damaging |
Het |
Myt1l |
A |
G |
12: 29,877,627 (GRCm39) |
D426G |
unknown |
Het |
Ndel1 |
C |
T |
11: 68,727,101 (GRCm39) |
R192H |
probably damaging |
Het |
Nudt21 |
T |
C |
8: 94,755,506 (GRCm39) |
D134G |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,022,371 (GRCm39) |
H113L |
probably damaging |
Het |
Nxf1 |
A |
G |
19: 8,746,546 (GRCm39) |
K586E |
probably damaging |
Het |
Or2ag15 |
T |
C |
7: 106,340,613 (GRCm39) |
H176R |
probably damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,624 (GRCm39) |
E171G |
possibly damaging |
Het |
Osbpl8 |
A |
G |
10: 111,108,099 (GRCm39) |
Y365C |
possibly damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,560,497 (GRCm39) |
Y368C |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,515,465 (GRCm39) |
F649L |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,755,798 (GRCm39) |
Y205C |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,232,522 (GRCm39) |
N863S |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,605,019 (GRCm39) |
K2979R |
probably benign |
Het |
Ptk6 |
T |
C |
2: 180,840,253 (GRCm39) |
Y251C |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,525,607 (GRCm39) |
W334R |
probably damaging |
Het |
Rbm11 |
A |
T |
16: 75,393,655 (GRCm39) |
|
probably null |
Het |
Rhbdl1 |
A |
G |
17: 26,053,943 (GRCm39) |
L309P |
probably damaging |
Het |
Rhbg |
G |
A |
3: 88,153,133 (GRCm39) |
R274* |
probably null |
Het |
Rpp30 |
A |
G |
19: 36,081,845 (GRCm39) |
*269W |
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
Slc44a1 |
A |
G |
4: 53,561,099 (GRCm39) |
K605R |
probably damaging |
Het |
Slco2a1 |
A |
G |
9: 102,927,346 (GRCm39) |
S80G |
probably benign |
Het |
Tmem50b |
A |
T |
16: 91,380,164 (GRCm39) |
M71K |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Tyro3 |
A |
G |
2: 119,638,481 (GRCm39) |
T303A |
possibly damaging |
Het |
Uba3 |
A |
T |
6: 97,173,869 (GRCm39) |
D105E |
probably damaging |
Het |
Vmn1r21 |
T |
C |
6: 57,821,255 (GRCm39) |
D63G |
probably benign |
Het |
Vstm2b |
T |
A |
7: 40,549,533 (GRCm39) |
I63N |
probably damaging |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
Zscan22 |
T |
A |
7: 12,640,834 (GRCm39) |
C359* |
probably null |
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 |
|
IGL01140:Mbtd1
|
APN |
11 |
93,815,258 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTAGCATGATCACGACATAAGAGTG -3'
(R):5'- ATAGAGGTCAGGGGACTCAC -3'
Sequencing Primer
(F):5'- CACGACATAAGAGTGGAAATTTTTC -3'
(R):5'- TCAGGGGACTCACAGTCTAC -3'
|
Posted On |
2018-03-15 |