Incidental Mutation 'R9181:Mbtd1'
| ID |
697040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbtd1
|
| Ensembl Gene |
ENSMUSG00000059474 |
| Gene Name |
mbt domain containing 1 |
| Synonyms |
hemp |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9181 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
93776678-93837811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93803241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 173
(N173S)
|
| 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: N151S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
AA Change: N151S
| 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: N173S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: N173S
| 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
AA Change: N151S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474
AA Change: N151S
| 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 benign
Transcript: ENSMUST00000107852
AA Change: N151S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474
AA Change: N151S
| 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: N151S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: N151S
| 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: N151S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: N151S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| 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 |
|---|
| Abcg3 |
G |
T |
5: 105,121,962 (GRCm39) |
D138E |
probably benign |
Het |
| Acvr2a |
T |
A |
2: 48,760,307 (GRCm39) |
I21K |
probably damaging |
Het |
| Adam30 |
C |
G |
3: 98,070,194 (GRCm39) |
P676A |
probably benign |
Het |
| Ankrd28 |
A |
C |
14: 31,470,627 (GRCm39) |
H145Q |
probably damaging |
Het |
| Ap3m2 |
A |
G |
8: 23,289,774 (GRCm39) |
Y110H |
probably damaging |
Het |
| Apoc4 |
A |
G |
7: 19,412,665 (GRCm39) |
S27P |
possibly damaging |
Het |
| Bbs1 |
A |
C |
19: 4,941,070 (GRCm39) |
L548R |
possibly damaging |
Het |
| Cfap99 |
A |
T |
5: 34,471,602 (GRCm39) |
D346V |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,189,870 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,703,612 (GRCm39) |
K436E |
possibly damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,462,206 (GRCm39) |
V105A |
possibly damaging |
Het |
| Disp2 |
T |
A |
2: 118,617,393 (GRCm39) |
V129E |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,181,194 (GRCm39) |
V1027A |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,231,818 (GRCm39) |
I3137N |
probably benign |
Het |
| F5 |
A |
G |
1: 164,019,895 (GRCm39) |
D790G |
probably benign |
Het |
| Fan1 |
A |
G |
7: 64,016,400 (GRCm39) |
S575P |
probably damaging |
Het |
| Gemin5 |
C |
T |
11: 58,021,035 (GRCm39) |
A1051T |
probably benign |
Het |
| Gsta4 |
A |
G |
9: 78,105,597 (GRCm39) |
Y9C |
probably damaging |
Het |
| H2-M3 |
C |
A |
17: 37,583,172 (GRCm39) |
A211E |
probably damaging |
Het |
| Ifna1 |
A |
T |
4: 88,768,453 (GRCm39) |
M44L |
probably benign |
Het |
| Ildr2 |
A |
T |
1: 166,122,283 (GRCm39) |
D242V |
probably damaging |
Het |
| Kif27 |
G |
T |
13: 58,492,543 (GRCm39) |
Q199K |
probably damaging |
Het |
| Lmf1 |
T |
A |
17: 25,804,718 (GRCm39) |
L132H |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,835,392 (GRCm39) |
|
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,225,123 (GRCm39) |
N446Y |
probably benign |
Het |
| Minar1 |
A |
G |
9: 89,485,394 (GRCm39) |
M1T |
probably null |
Het |
| Mocs1 |
T |
A |
17: 49,756,801 (GRCm39) |
M261K |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,524,108 (GRCm39) |
F457L |
probably damaging |
Het |
| Nlrp4e |
C |
T |
7: 23,061,270 (GRCm39) |
R954* |
probably null |
Het |
| Or4s2 |
T |
C |
2: 88,473,348 (GRCm39) |
M79T |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,141,109 (GRCm39) |
I261M |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,318 (GRCm39) |
I1576N |
probably damaging |
Het |
| Plekhg6 |
A |
C |
6: 125,355,854 (GRCm39) |
|
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,283,365 (GRCm39) |
L388P |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,104,421 (GRCm39) |
I818N |
probably damaging |
Het |
| Pramel46 |
A |
T |
5: 95,418,414 (GRCm39) |
V194D |
probably benign |
Het |
| Radil |
A |
G |
5: 142,480,722 (GRCm39) |
Y578H |
probably damaging |
Het |
| Retnlb |
A |
G |
16: 48,639,084 (GRCm39) |
D95G |
probably damaging |
Het |
| Rufy2 |
A |
T |
10: 62,836,166 (GRCm39) |
Y365F |
possibly damaging |
Het |
| Ssc5d |
A |
G |
7: 4,945,814 (GRCm39) |
T949A |
possibly damaging |
Het |
| Svil |
C |
A |
18: 5,090,833 (GRCm39) |
R1312S |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,063,994 (GRCm39) |
T7142A |
probably damaging |
Het |
| Tert |
A |
T |
13: 73,785,294 (GRCm39) |
|
probably benign |
Het |
| Tpbgl |
A |
T |
7: 99,274,776 (GRCm39) |
D360E |
probably damaging |
Het |
| Traj13 |
G |
A |
14: 54,443,248 (GRCm39) |
V17I |
unknown |
Het |
| Trim13 |
G |
A |
14: 61,842,046 (GRCm39) |
R21Q |
possibly damaging |
Het |
| Wdr36 |
T |
C |
18: 32,981,382 (GRCm39) |
V357A |
possibly damaging |
Het |
| Xdh |
G |
A |
17: 74,232,006 (GRCm39) |
R235C |
probably damaging |
Het |
| Zfp971 |
T |
C |
2: 177,674,736 (GRCm39) |
F112L |
probably damaging |
Het |
| Znfx1 |
C |
T |
2: 166,879,738 (GRCm39) |
C1546Y |
probably damaging |
Het |
| Znfx1 |
T |
A |
2: 166,880,137 (GRCm39) |
E1413V |
probably benign |
Het |
| Zscan4c |
A |
G |
7: 10,743,741 (GRCm39) |
M447V |
probably benign |
Het |
| Zyx |
T |
A |
6: 42,334,818 (GRCm39) |
D541E |
probably damaging |
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 |
|
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 |
|
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'- GGTTTCCTAGTAACAGCAGAAAC -3'
(R):5'- ATCACCTGTCCCTAAGCTATAATAC -3'
Sequencing Primer
(F):5'- TCCTAGTAACAGCAGAAACATATGAG -3'
(R):5'- TGTCCCTAAGCTATAATACCAAAAGC -3'
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| Posted On |
2022-02-07 |
Incidental Mutation