Incidental Mutation 'R7519:Mbtd1'
| ID |
582577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbtd1
|
| Ensembl Gene |
ENSMUSG00000059474 |
| Gene Name |
mbt domain containing 1 |
| Synonyms |
hemp |
| MMRRC Submission |
045591-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7519 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
93776678-93837811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93799725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 106
(S106P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063645]
[ENSMUST00000063718]
[ENSMUST00000107850]
[ENSMUST00000107852]
[ENSMUST00000107853]
[ENSMUST00000107854]
|
| AlphaFold |
Q6P5G3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063645
AA Change: S84P
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
AA Change: S84P
| 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: S106P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: S106P
| 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: S84P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474
AA Change: S84P
| 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: S84P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474
AA Change: S84P
| 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: S84P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: S84P
| 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: S84P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: S84P
| 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 |
|
| Meta Mutation Damage Score |
0.1078 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (54/54) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
G |
A |
7: 27,274,155 (GRCm39) |
R132K |
|
Het |
| Acaca |
T |
C |
11: 84,136,682 (GRCm39) |
S571P |
probably damaging |
Het |
| Adamts20 |
T |
G |
15: 94,223,869 (GRCm39) |
K1286N |
possibly damaging |
Het |
| Adamts7 |
A |
G |
9: 90,079,132 (GRCm39) |
D1477G |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,054,039 (GRCm39) |
T207I |
probably benign |
Het |
| Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGGCGG |
CGGCGGTGGCGG |
17: 5,046,128 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
A |
1: 139,418,074 (GRCm39) |
N2934K |
possibly damaging |
Het |
| Axin2 |
T |
G |
11: 108,833,072 (GRCm39) |
V419G |
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 140,644,257 (GRCm39) |
T108A |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 135,998,494 (GRCm39) |
R174Q |
probably damaging |
Het |
| Cdh18 |
G |
T |
15: 23,474,298 (GRCm39) |
A723S |
possibly damaging |
Het |
| Ces4a |
T |
C |
8: 105,871,851 (GRCm39) |
M307T |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,203,124 (GRCm39) |
I1193F |
probably damaging |
Het |
| Crb2 |
G |
T |
2: 37,683,332 (GRCm39) |
G945W |
probably damaging |
Het |
| Ctnna1 |
T |
G |
18: 35,307,424 (GRCm39) |
I140M |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,390,629 (GRCm39) |
S3213P |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,735,785 (GRCm39) |
S258G |
probably benign |
Het |
| Fbxo15 |
T |
G |
18: 84,982,359 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,785,724 (GRCm39) |
Y387C |
probably damaging |
Het |
| Flt3l |
G |
A |
7: 44,783,269 (GRCm39) |
T176I |
unknown |
Het |
| Galk2 |
G |
A |
2: 125,825,172 (GRCm39) |
R456H |
possibly damaging |
Het |
| Gm10840 |
T |
C |
11: 106,051,716 (GRCm39) |
L14P |
unknown |
Het |
| Gm5591 |
T |
C |
7: 38,220,094 (GRCm39) |
T260A |
possibly damaging |
Het |
| Gm6370 |
T |
A |
5: 146,430,638 (GRCm39) |
D274E |
probably damaging |
Het |
| Grhl2 |
T |
A |
15: 37,336,556 (GRCm39) |
D484E |
probably damaging |
Het |
| Hbp1 |
A |
T |
12: 31,983,374 (GRCm39) |
V360D |
probably damaging |
Het |
| Heatr5b |
G |
T |
17: 79,062,646 (GRCm39) |
Q1968K |
probably benign |
Het |
| Igsf8 |
C |
T |
1: 172,143,874 (GRCm39) |
T72M |
probably benign |
Het |
| Kera |
A |
T |
10: 97,444,884 (GRCm39) |
N81I |
probably damaging |
Het |
| Klhl14 |
C |
T |
18: 21,784,900 (GRCm39) |
V176I |
probably benign |
Het |
| Klrb1 |
A |
T |
6: 128,689,252 (GRCm39) |
V73E |
probably damaging |
Het |
| Krtap31-2 |
T |
C |
11: 99,827,501 (GRCm39) |
L111P |
possibly damaging |
Het |
| Nckap5l |
T |
C |
15: 99,324,128 (GRCm39) |
T792A |
probably benign |
Het |
| Ndufaf4 |
A |
C |
4: 24,901,847 (GRCm39) |
T132P |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,785,348 (GRCm39) |
V1453A |
probably benign |
Het |
| Or5w13 |
T |
C |
2: 87,523,753 (GRCm39) |
I158V |
probably benign |
Het |
| Or6c76 |
A |
C |
10: 129,612,091 (GRCm39) |
I103L |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,139,319 (GRCm39) |
L316* |
probably null |
Het |
| Pcdha7 |
T |
C |
18: 37,109,285 (GRCm39) |
M770T |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,258,984 (GRCm39) |
S253P |
probably damaging |
Het |
| Phtf1 |
T |
C |
3: 103,876,435 (GRCm39) |
Y12H |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,792,268 (GRCm39) |
N508S |
probably benign |
Het |
| Pla1a |
A |
G |
16: 38,235,208 (GRCm39) |
I162T |
possibly damaging |
Het |
| Rb1 |
A |
T |
14: 73,502,048 (GRCm39) |
L446M |
probably damaging |
Het |
| Retn |
A |
T |
8: 3,706,079 (GRCm39) |
S22C |
probably damaging |
Het |
| Snx25 |
A |
G |
8: 46,569,309 (GRCm39) |
L196P |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spata31d1b |
G |
A |
13: 59,864,726 (GRCm39) |
D625N |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 177,988,126 (GRCm39) |
*1501W |
probably null |
Het |
| Tarbp1 |
T |
G |
8: 127,160,639 (GRCm39) |
T1271P |
possibly damaging |
Het |
| Uba1y |
T |
C |
Y: 821,567 (GRCm39) |
F154L |
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,705,925 (GRCm39) |
I1513F |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,804,524 (GRCm39) |
Q132L |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,644,506 (GRCm39) |
T2454S |
|
Het |
| Wdr33 |
C |
A |
18: 32,029,823 (GRCm39) |
F1007L |
unknown |
Het |
| Zfp398 |
A |
G |
6: 47,836,407 (GRCm39) |
H201R |
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 |
|
|
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 |
|
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'- ATCAAGTCCTGGCTGTAACTTTTC -3'
(R):5'- CGTGGCTCATACATTCCTAACAG -3'
Sequencing Primer
(F):5'- CTCTATCATTTGTGTAAGAGATGGG -3'
(R):5'- TACATTCCTAACAGTACAGGCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation