Incidental Mutation 'R4435:Mbtd1'
| ID |
500623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbtd1
|
| Ensembl Gene |
ENSMUSG00000059474 |
| Gene Name |
mbt domain containing 1 |
| Synonyms |
hemp |
| MMRRC Submission |
041149-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4435 (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 A
at 93823048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 489
(D489E)
|
| 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 |
probably benign
Transcript: ENSMUST00000063718
AA Change: D511E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: D511E
| 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 |
probably benign
Transcript: ENSMUST00000107853
AA Change: D489E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: D489E
| 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 benign
Transcript: ENSMUST00000107854
AA Change: D489E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: D489E
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,039,461 (GRCm39) |
R574S |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,439,920 (GRCm39) |
I576V |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,597,981 (GRCm39) |
V1283D |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,232 (GRCm39) |
|
probably null |
Het |
| Asrgl1 |
C |
T |
19: 9,096,563 (GRCm39) |
V125I |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,320,942 (GRCm39) |
R239G |
probably benign |
Het |
| Cdyl |
T |
C |
13: 36,042,233 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
C |
7: 55,549,789 (GRCm39) |
I650T |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,716,312 (GRCm39) |
Q506K |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,588 (GRCm39) |
D1313G |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Gm5134 |
T |
G |
10: 75,831,658 (GRCm39) |
S366A |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,111,623 (GRCm39) |
Y713H |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,476,234 (GRCm39) |
L14P |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,519,875 (GRCm39) |
N2078K |
possibly damaging |
Het |
| Maf |
T |
A |
8: 116,433,592 (GRCm39) |
E4V |
unknown |
Het |
| Myrip |
C |
T |
9: 120,164,680 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,345,896 (GRCm39) |
D816G |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,414,764 (GRCm39) |
V934A |
possibly damaging |
Het |
| Or2a12 |
T |
A |
6: 42,905,023 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,229 (GRCm39) |
M81V |
probably benign |
Het |
| Psd |
A |
T |
19: 46,302,933 (GRCm39) |
I158N |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,520,916 (GRCm39) |
V752A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Senp2 |
T |
A |
16: 21,832,991 (GRCm39) |
V93E |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,906,899 (GRCm39) |
S280G |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,661,473 (GRCm39) |
E666G |
possibly damaging |
Het |
| Strip2 |
T |
C |
6: 29,925,049 (GRCm39) |
V129A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,219 (GRCm39) |
E4610G |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,223,636 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc3h18 |
T |
C |
8: 123,140,691 (GRCm39) |
|
probably null |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGATCACGACATAAGAGTG -3'
(R):5'- ATAGAGGTCAGGGGACTCAC -3'
Sequencing Primer
(F):5'- CACGACATAAGAGTGGAAATTTTTC -3'
(R):5'- TCAGGGGACTCACAGTCTAC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation