Incidental Mutation 'R6998:Mbtd1'
| ID |
544356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbtd1
|
| Ensembl Gene |
ENSMUSG00000059474 |
| Gene Name |
mbt domain containing 1 |
| Synonyms |
hemp |
| MMRRC Submission |
045010-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
93776678-93837811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93815438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 342
(H342L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103484
(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: H342L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
AA Change: H342L
| 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: H364L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: H364L
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103482
Gene: ENSMUSG00000059474
| 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: H342L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103484
Gene: ENSMUSG00000059474
AA Change: H342L
| 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: H342L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: H342L
| 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: H342L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: H342L
| 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: 99.7%
- 20x: 99.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,070,026 (GRCm39) |
R620G |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,029,026 (GRCm39) |
N259H |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,598,480 (GRCm39) |
R2* |
probably null |
Het |
| Akr1c21 |
A |
G |
13: 4,633,850 (GRCm39) |
I306M |
probably benign |
Het |
| Alg9 |
T |
A |
9: 50,700,921 (GRCm39) |
S230R |
possibly damaging |
Het |
| Armt1 |
T |
A |
10: 4,403,937 (GRCm39) |
C341S |
probably benign |
Het |
| Aspg |
T |
A |
12: 112,078,628 (GRCm39) |
L29M |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,397,210 (GRCm39) |
T934I |
probably damaging |
Het |
| C1rl |
T |
C |
6: 124,485,861 (GRCm39) |
S411P |
probably damaging |
Het |
| Card14 |
A |
G |
11: 119,213,725 (GRCm39) |
E224G |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,883,111 (GRCm39) |
H1587R |
probably damaging |
Het |
| Ccp110 |
A |
G |
7: 118,332,120 (GRCm39) |
T963A |
possibly damaging |
Het |
| Cdk11b |
G |
A |
4: 155,732,800 (GRCm39) |
W546* |
probably null |
Het |
| Cyp8b1 |
T |
C |
9: 121,745,059 (GRCm39) |
N91S |
probably benign |
Het |
| Dab2 |
G |
T |
15: 6,454,130 (GRCm39) |
M213I |
possibly damaging |
Het |
| Decr1 |
A |
G |
4: 15,930,960 (GRCm39) |
V124A |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,748,687 (GRCm39) |
I411F |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,825,611 (GRCm39) |
I164V |
probably null |
Het |
| Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
| Garem2 |
T |
C |
5: 30,319,168 (GRCm39) |
M210T |
possibly damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Ighv1-52 |
C |
A |
12: 115,109,112 (GRCm39) |
A115S |
probably benign |
Het |
| Igkv6-13 |
A |
G |
6: 70,434,573 (GRCm39) |
S91P |
probably damaging |
Het |
| Ints8 |
T |
A |
4: 11,204,537 (GRCm39) |
E973V |
possibly damaging |
Het |
| Itga3 |
T |
C |
11: 94,942,288 (GRCm39) |
K972R |
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,478 (GRCm39) |
F339I |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,846,307 (GRCm39) |
M214V |
probably benign |
Het |
| Lgsn |
A |
T |
1: 31,243,274 (GRCm39) |
H452L |
probably benign |
Het |
| Limd2 |
C |
T |
11: 106,049,516 (GRCm39) |
G124D |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,270,755 (GRCm39) |
S993P |
probably damaging |
Het |
| Maml2 |
C |
T |
9: 13,532,481 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
C |
A |
8: 36,058,510 (GRCm39) |
P995Q |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,372,451 (GRCm39) |
F3399S |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
| Odf2 |
G |
T |
2: 29,802,629 (GRCm39) |
A298S |
probably benign |
Het |
| Or11g7 |
A |
T |
14: 50,690,890 (GRCm39) |
Y127F |
probably benign |
Het |
| Or4s2b |
A |
T |
2: 88,508,852 (GRCm39) |
I218F |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,488 (GRCm39) |
M228K |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,450,476 (GRCm39) |
D1124G |
probably benign |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
T |
G |
1: 133,030,110 (GRCm39) |
I1457S |
probably benign |
Het |
| Pole2 |
T |
C |
12: 69,260,680 (GRCm39) |
T167A |
possibly damaging |
Het |
| Rfx7 |
T |
A |
9: 72,525,787 (GRCm39) |
S992R |
probably damaging |
Het |
| Ryr2 |
G |
T |
13: 11,727,052 (GRCm39) |
S2436R |
probably damaging |
Het |
| Sgo2a |
A |
G |
1: 58,055,799 (GRCm39) |
D661G |
probably damaging |
Het |
| Sh3glb2 |
T |
A |
2: 30,245,333 (GRCm39) |
T49S |
probably damaging |
Het |
| Slc16a10 |
T |
C |
10: 39,932,499 (GRCm39) |
K354R |
possibly damaging |
Het |
| Slc6a6 |
C |
A |
6: 91,729,419 (GRCm39) |
T568K |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,050,633 (GRCm39) |
T2319A |
probably damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,233,454 (GRCm39) |
Y15N |
probably damaging |
Het |
| Thyn1 |
T |
C |
9: 26,917,738 (GRCm39) |
S160P |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,033,966 (GRCm39) |
D147E |
probably benign |
Het |
| Vmn2r50 |
T |
G |
7: 9,771,684 (GRCm39) |
R672S |
probably benign |
Het |
| Zfp663 |
A |
T |
2: 165,195,922 (GRCm39) |
I99N |
possibly 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 |
|
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'- ATCCTTTCAAACCTTGCATGAG -3'
(R):5'- ATGGTCTCATGCATGAATGTTC -3'
Sequencing Primer
(F):5'- CCTTTCAAACCTTGCATGAGAGTAG -3'
(R):5'- GGAAGGAACATAAGGAATTAGTACTC -3'
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| Posted On |
2019-05-13 |
Incidental Mutation