Incidental Mutation 'R6295:Mbtd1'
| ID |
508718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbtd1
|
| Ensembl Gene |
ENSMUSG00000059474 |
| Gene Name |
mbt domain containing 1 |
| Synonyms |
hemp |
| MMRRC Submission |
044463-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6295 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
93776678-93837811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93823058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 493
(H493Y)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000063718
AA Change: H515Y
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: H515Y
| 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 |
possibly damaging
Transcript: ENSMUST00000107853
AA Change: H493Y
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: H493Y
| 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 |
possibly damaging
Transcript: ENSMUST00000107854
AA Change: H493Y
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: H493Y
| 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
|
| Meta Mutation Damage Score |
0.1237 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
C |
12: 118,838,379 (GRCm39) |
V1061G |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,781,413 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
A |
G |
7: 105,215,902 (GRCm39) |
F112L |
probably benign |
Het |
| Atg9a |
A |
G |
1: 75,161,702 (GRCm39) |
S615P |
probably benign |
Het |
| Atp8a2 |
G |
A |
14: 60,249,848 (GRCm39) |
R548* |
probably null |
Het |
| Bbof1 |
A |
T |
12: 84,457,942 (GRCm39) |
N69I |
possibly damaging |
Het |
| Bcl2l14 |
T |
A |
6: 134,404,370 (GRCm39) |
V186D |
probably benign |
Het |
| Bmp1 |
T |
G |
14: 70,728,823 (GRCm39) |
Y583S |
possibly damaging |
Het |
| Boc |
A |
C |
16: 44,312,711 (GRCm39) |
S586R |
probably benign |
Het |
| Btbd9 |
A |
T |
17: 30,518,710 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,317,919 (GRCm39) |
M1180V |
probably damaging |
Het |
| Ciao1 |
T |
C |
2: 127,088,376 (GRCm39) |
H149R |
probably damaging |
Het |
| Cops5 |
T |
C |
1: 10,100,920 (GRCm39) |
|
probably benign |
Het |
| Doc2b |
C |
T |
11: 75,671,093 (GRCm39) |
R209Q |
probably damaging |
Het |
| Doc2b |
T |
C |
11: 75,686,451 (GRCm39) |
Y90C |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,901,675 (GRCm39) |
F481L |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,061,229 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
A |
9: 109,277,837 (GRCm39) |
|
probably benign |
Het |
| Fbxw27 |
T |
C |
9: 109,601,154 (GRCm39) |
E17G |
possibly damaging |
Het |
| Gm29735 |
G |
A |
7: 141,710,367 (GRCm39) |
P162S |
unknown |
Het |
| Gypa |
T |
G |
8: 81,222,969 (GRCm39) |
S24R |
unknown |
Het |
| Hdhd5 |
T |
C |
6: 120,495,485 (GRCm39) |
N153D |
probably benign |
Het |
| Ibsp |
C |
A |
5: 104,449,987 (GRCm39) |
|
probably null |
Het |
| Klhdc3 |
C |
T |
17: 46,988,972 (GRCm39) |
V73I |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,388,459 (GRCm39) |
E2322G |
unknown |
Het |
| Lrrtm3 |
T |
C |
10: 63,765,913 (GRCm39) |
H558R |
probably benign |
Het |
| Mphosph9 |
A |
G |
5: 124,458,978 (GRCm39) |
V64A |
possibly damaging |
Het |
| Nthl1 |
C |
T |
17: 24,857,475 (GRCm39) |
R251C |
probably damaging |
Het |
| Numa1 |
G |
A |
7: 101,649,974 (GRCm39) |
R1235H |
probably benign |
Het |
| Opn1sw |
T |
A |
6: 29,379,413 (GRCm39) |
Y197F |
possibly damaging |
Het |
| Or10a3m |
T |
C |
7: 108,312,845 (GRCm39) |
V95A |
probably damaging |
Het |
| Pcca |
A |
T |
14: 122,896,187 (GRCm39) |
I268F |
probably benign |
Het |
| Per2 |
A |
T |
1: 91,377,594 (GRCm39) |
D76E |
unknown |
Het |
| Pfas |
T |
C |
11: 68,888,825 (GRCm39) |
N374S |
probably benign |
Het |
| Pomk |
C |
A |
8: 26,472,955 (GRCm39) |
V333F |
probably damaging |
Het |
| Ptgfr |
T |
C |
3: 151,540,926 (GRCm39) |
E194G |
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,582,997 (GRCm39) |
P615S |
probably damaging |
Het |
| Pyroxd1 |
T |
C |
6: 142,300,479 (GRCm39) |
I203T |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,087,520 (GRCm39) |
N466S |
probably benign |
Het |
| Rpl3l |
G |
A |
17: 24,952,966 (GRCm39) |
V309I |
probably benign |
Het |
| Rtkn2 |
C |
T |
10: 67,815,529 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,318,253 (GRCm39) |
A1613T |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,874,103 (GRCm39) |
T33S |
probably damaging |
Het |
| Slc22a4 |
C |
A |
11: 53,898,634 (GRCm39) |
V153F |
possibly damaging |
Het |
| Stxbp1 |
C |
G |
2: 32,684,621 (GRCm39) |
E603Q |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,559,831 (GRCm39) |
S1291G |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,687,572 (GRCm39) |
L1144M |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,533 (GRCm39) |
V249A |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,888,182 (GRCm39) |
C552S |
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 |
|
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'- AATGGTAGCATGATCACGACATAAG -3'
(R):5'- ATAGAGGTCAGGGGACTCAC -3'
Sequencing Primer
(F):5'- TAGCATGATCACGACATAAGAGTGG -3'
(R):5'- TCAGGGGACTCACAGTCTAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation