Incidental Mutation 'R4589:Mbtd1'
| ID |
342691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbtd1
|
| Ensembl Gene |
ENSMUSG00000059474 |
| Gene Name |
mbt domain containing 1 |
| Synonyms |
hemp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4589 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
93776678-93837811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93812245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 183
(V183A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063645]
[ENSMUST00000063718]
[ENSMUST00000107850]
[ENSMUST00000107852]
[ENSMUST00000107853]
[ENSMUST00000107854]
|
| AlphaFold |
Q6P5G3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063645
AA Change: V183A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
AA Change: V183A
| 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: V205A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: V205A
| 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 damaging
Transcript: ENSMUST00000107850
AA Change: V183A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474
AA Change: V183A
| 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: V183A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474
AA Change: V183A
| 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: V183A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: V183A
| 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: V183A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: V183A
| 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: ENSMUST00000155518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155841
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
T |
16: 14,211,895 (GRCm39) |
V157L |
probably benign |
Het |
| Actn1 |
G |
A |
12: 80,218,573 (GRCm39) |
T737I |
possibly damaging |
Het |
| Ada |
T |
C |
2: 163,574,868 (GRCm39) |
K90E |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,223,837 (GRCm39) |
L184* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,521,947 (GRCm39) |
D693G |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,116,738 (GRCm39) |
I277F |
probably damaging |
Het |
| Armh4 |
A |
G |
14: 50,011,039 (GRCm39) |
S223P |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,467,855 (GRCm39) |
S67G |
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,539 (GRCm39) |
F47L |
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,117,862 (GRCm39) |
C302* |
probably null |
Het |
| Cyth1 |
C |
T |
11: 118,075,811 (GRCm39) |
V142I |
possibly damaging |
Het |
| Ddx59 |
T |
A |
1: 136,367,480 (GRCm39) |
|
probably null |
Het |
| Def6 |
G |
T |
17: 28,447,121 (GRCm39) |
R584L |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,553,743 (GRCm39) |
Y340* |
probably null |
Het |
| Eif2ak4 |
T |
G |
2: 118,247,819 (GRCm39) |
C173W |
probably damaging |
Het |
| Gm14403 |
C |
T |
2: 177,200,428 (GRCm39) |
H125Y |
probably benign |
Het |
| Grk3 |
T |
C |
5: 113,089,584 (GRCm39) |
I323V |
possibly damaging |
Het |
| Homez |
G |
T |
14: 55,094,487 (GRCm39) |
T407K |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,037,910 (GRCm39) |
T763A |
probably damaging |
Het |
| Ighg2b |
A |
T |
12: 113,270,104 (GRCm39) |
W305R |
unknown |
Het |
| Il27ra |
G |
T |
8: 84,763,038 (GRCm39) |
N296K |
probably damaging |
Het |
| Lzic |
G |
T |
4: 149,572,561 (GRCm39) |
L50F |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,287,693 (GRCm39) |
D731E |
probably benign |
Het |
| Mocos |
T |
C |
18: 24,787,095 (GRCm39) |
L38P |
probably damaging |
Het |
| Mrps18a |
T |
C |
17: 46,428,899 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 87,987,460 (GRCm39) |
V200D |
possibly damaging |
Het |
| Mug1 |
A |
T |
6: 121,834,310 (GRCm39) |
I364F |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,414,749 (GRCm39) |
S2554R |
probably benign |
Het |
| Nat10 |
A |
G |
2: 103,584,415 (GRCm39) |
C121R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,805,705 (GRCm39) |
D183E |
probably damaging |
Het |
| Odr4 |
C |
T |
1: 150,260,238 (GRCm39) |
V127I |
probably benign |
Het |
| Or4d10c |
T |
C |
19: 12,065,305 (GRCm39) |
I284V |
possibly damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,639 (GRCm39) |
F282L |
probably damaging |
Het |
| Or52h1 |
C |
A |
7: 103,828,636 (GRCm39) |
|
probably null |
Het |
| Or5d14 |
T |
C |
2: 87,880,823 (GRCm39) |
I48M |
probably benign |
Het |
| Pak6 |
T |
A |
2: 118,527,021 (GRCm39) |
I672K |
probably damaging |
Het |
| Pan3 |
A |
T |
5: 147,479,983 (GRCm39) |
I830F |
probably damaging |
Het |
| Pcdh9 |
A |
T |
14: 94,125,628 (GRCm39) |
L181I |
probably damaging |
Het |
| Pigg |
G |
A |
5: 108,480,556 (GRCm39) |
A447T |
probably benign |
Het |
| Pitpnb |
T |
A |
5: 111,519,214 (GRCm39) |
S165T |
probably damaging |
Het |
| Pla2g2a |
A |
G |
4: 138,560,590 (GRCm39) |
Y67C |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,688,928 (GRCm39) |
I80T |
probably damaging |
Het |
| Pnma1 |
A |
G |
12: 84,194,235 (GRCm39) |
I156T |
probably benign |
Het |
| Prss21 |
G |
T |
17: 24,091,796 (GRCm39) |
D255Y |
possibly damaging |
Het |
| Prune1 |
T |
A |
3: 95,169,642 (GRCm39) |
I187F |
possibly damaging |
Het |
| Rab7b |
T |
C |
1: 131,633,385 (GRCm39) |
F78L |
probably benign |
Het |
| Riok3 |
T |
A |
18: 12,269,844 (GRCm39) |
Y92N |
probably benign |
Het |
| Rpap2 |
T |
C |
5: 107,768,361 (GRCm39) |
S400P |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,705,478 (GRCm39) |
G792V |
probably damaging |
Het |
| Septin3 |
A |
G |
15: 82,170,092 (GRCm39) |
E206G |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,840,679 (GRCm39) |
S454P |
probably damaging |
Het |
| Tdh |
A |
T |
14: 63,733,326 (GRCm39) |
L140Q |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,047,401 (GRCm39) |
H159Q |
probably damaging |
Het |
| Tmed6 |
C |
T |
8: 107,790,793 (GRCm39) |
V85I |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,454,204 (GRCm39) |
L290* |
probably null |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,596 (GRCm39) |
S90P |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,404,822 (GRCm39) |
T194A |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,192,548 (GRCm39) |
I42F |
probably damaging |
Het |
| Vps35 |
G |
A |
8: 86,014,331 (GRCm39) |
P106L |
probably damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,906,661 (GRCm39) |
Y69N |
probably damaging |
Het |
| Zbtb14 |
C |
T |
17: 69,695,465 (GRCm39) |
P388S |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,817,261 (GRCm39) |
A902V |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGAATTTGATCCTGACTCTGGC -3'
(R):5'- CTGGCTGGCTTGGAATACTG -3'
Sequencing Primer
(F):5'- TCTTTACAAGGAATGGAAACTATGC -3'
(R):5'- GTGACAGCTTTATGAGACAGACTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation