Incidental Mutation 'R1295:Mbtd1'
ID |
158079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mbtd1
|
Ensembl Gene |
ENSMUSG00000059474 |
Gene Name |
mbt domain containing 1 |
Synonyms |
hemp |
MMRRC Submission |
039361-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1295 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
93776678-93837811 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93801185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 122
(Y122C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063645]
[ENSMUST00000063718]
[ENSMUST00000107850]
[ENSMUST00000107852]
[ENSMUST00000107853]
[ENSMUST00000107854]
|
AlphaFold |
Q6P5G3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063645
AA Change: Y122C
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000070248 Gene: ENSMUSG00000059474 AA Change: Y122C
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: Y144C
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000065442 Gene: ENSMUSG00000059474 AA Change: Y144C
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: Y122C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103482 Gene: ENSMUSG00000059474 AA Change: Y122C
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: Y122C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000103484 Gene: ENSMUSG00000059474 AA Change: Y122C
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: Y122C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000103485 Gene: ENSMUSG00000059474 AA Change: Y122C
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: Y122C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000103486 Gene: ENSMUSG00000059474 AA Change: Y122C
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: ENSMUST00000127539
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132739
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140880
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145354
|
Meta Mutation Damage Score |
0.1133 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.1%
- 20x: 82.0%
|
Validation Efficiency |
98% (81/83) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
A |
G |
9: 121,737,783 (GRCm39) |
S53G |
possibly damaging |
Het |
Adgrb1 |
T |
A |
15: 74,421,888 (GRCm39) |
L886Q |
probably damaging |
Het |
Adprhl1 |
G |
A |
8: 13,298,624 (GRCm39) |
T102M |
probably damaging |
Het |
Akap6 |
A |
C |
12: 52,933,812 (GRCm39) |
K435Q |
probably damaging |
Het |
Aldh7a1 |
T |
C |
18: 56,680,022 (GRCm39) |
|
probably null |
Het |
Amfr |
T |
C |
8: 94,701,432 (GRCm39) |
R507G |
probably benign |
Het |
Ap1m1 |
T |
A |
8: 73,005,719 (GRCm39) |
|
probably null |
Het |
Arhgap29 |
A |
G |
3: 121,786,044 (GRCm39) |
H275R |
probably benign |
Het |
Arhgef17 |
C |
A |
7: 100,530,476 (GRCm39) |
E428* |
probably null |
Het |
Atm |
A |
T |
9: 53,367,830 (GRCm39) |
V2431E |
probably damaging |
Het |
Atn1 |
G |
T |
6: 124,724,750 (GRCm39) |
P161Q |
unknown |
Het |
Atp13a2 |
T |
C |
4: 140,721,113 (GRCm39) |
S99P |
probably damaging |
Het |
Ccar1 |
C |
A |
10: 62,619,661 (GRCm39) |
|
probably null |
Het |
Cdk18 |
T |
C |
1: 132,047,698 (GRCm39) |
|
probably benign |
Het |
Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,719,714 (GRCm39) |
F215S |
unknown |
Het |
Decr1 |
T |
C |
4: 15,919,207 (GRCm39) |
N312S |
possibly damaging |
Het |
Diaph3 |
A |
T |
14: 87,244,835 (GRCm39) |
W178R |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,075,752 (GRCm39) |
|
probably benign |
Het |
Ehd3 |
C |
A |
17: 74,135,181 (GRCm39) |
D352E |
probably damaging |
Het |
Enpp6 |
T |
G |
8: 47,518,535 (GRCm39) |
I221S |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,837,670 (GRCm39) |
|
probably benign |
Het |
Gm5435 |
G |
T |
12: 82,542,558 (GRCm39) |
|
noncoding transcript |
Het |
Gpr22 |
A |
C |
12: 31,759,513 (GRCm39) |
I203S |
probably benign |
Het |
Gpr61 |
A |
G |
3: 108,057,797 (GRCm39) |
V288A |
possibly damaging |
Het |
Grik3 |
G |
A |
4: 125,598,357 (GRCm39) |
|
probably benign |
Het |
Gstcd |
T |
C |
3: 132,711,389 (GRCm39) |
N431D |
probably damaging |
Het |
H1f5 |
T |
C |
13: 21,964,169 (GRCm39) |
S186G |
probably benign |
Het |
Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
Ift140 |
G |
T |
17: 25,307,907 (GRCm39) |
|
probably null |
Het |
Ikbke |
A |
G |
1: 131,197,963 (GRCm39) |
V381A |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,611,502 (GRCm39) |
I38N |
probably damaging |
Het |
Ing1 |
A |
C |
8: 11,611,501 (GRCm39) |
I38L |
probably benign |
Het |
Itga4 |
A |
G |
2: 79,153,033 (GRCm39) |
M907V |
possibly damaging |
Het |
Kcnk12 |
C |
T |
17: 88,053,801 (GRCm39) |
G287D |
probably damaging |
Het |
Kmt2e |
A |
C |
5: 23,707,402 (GRCm39) |
H1655P |
probably damaging |
Het |
Mif-ps9 |
T |
A |
19: 56,743,766 (GRCm39) |
|
noncoding transcript |
Het |
Mslnl |
T |
C |
17: 25,962,214 (GRCm39) |
L204P |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
Nav3 |
T |
A |
10: 109,527,963 (GRCm39) |
D2240V |
probably damaging |
Het |
Ndufaf3 |
T |
C |
9: 108,443,892 (GRCm39) |
T9A |
probably damaging |
Het |
Numb |
C |
A |
12: 83,842,935 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
T |
C |
7: 30,193,514 (GRCm39) |
V79A |
probably damaging |
Het |
Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
Rmnd5a |
G |
A |
6: 71,375,439 (GRCm39) |
L80F |
probably benign |
Het |
Rnf19a |
G |
T |
15: 36,244,247 (GRCm39) |
Y604* |
probably null |
Het |
Ros1 |
T |
A |
10: 51,964,028 (GRCm39) |
E1744V |
possibly damaging |
Het |
Rpusd2 |
T |
C |
2: 118,867,408 (GRCm39) |
F219L |
probably benign |
Het |
Sall2 |
T |
C |
14: 52,551,182 (GRCm39) |
N671S |
probably damaging |
Het |
Sele |
T |
A |
1: 163,878,379 (GRCm39) |
S239R |
probably damaging |
Het |
Serpina3b |
T |
C |
12: 104,097,138 (GRCm39) |
F140L |
probably damaging |
Het |
Stxbp1 |
A |
T |
2: 32,684,648 (GRCm39) |
S594T |
probably benign |
Het |
Sufu |
G |
A |
19: 46,443,159 (GRCm39) |
|
probably benign |
Het |
Tbx2 |
A |
G |
11: 85,725,592 (GRCm39) |
E181G |
probably damaging |
Het |
Thumpd2 |
A |
G |
17: 81,363,317 (GRCm39) |
V50A |
probably damaging |
Het |
Tlcd4 |
A |
G |
3: 121,000,940 (GRCm39) |
V231A |
probably benign |
Het |
Ttn |
C |
A |
2: 76,573,589 (GRCm39) |
R17441L |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,334,477 (GRCm39) |
Y1157C |
probably damaging |
Het |
Vmn1r9 |
T |
C |
6: 57,048,522 (GRCm39) |
V199A |
probably damaging |
Het |
Vmn2r6 |
A |
G |
3: 64,445,694 (GRCm39) |
F677S |
probably damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,225,008 (GRCm39) |
A501T |
probably benign |
Het |
Wapl |
C |
T |
14: 34,446,726 (GRCm39) |
P605S |
probably damaging |
Het |
Zfp598 |
A |
G |
17: 24,898,623 (GRCm39) |
N474S |
probably benign |
Het |
Zfyve26 |
A |
G |
12: 79,321,694 (GRCm39) |
L975P |
probably damaging |
Het |
Zp3r |
C |
T |
1: 130,519,181 (GRCm39) |
G255D |
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 |
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 |
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'- AGCATTGCTTTGCAACTGCATGAC -3'
(R):5'- GCACACAGTCTAAATGTGCCAACAG -3'
Sequencing Primer
(F):5'- GCATGACTGAATAACCCTGGTTC -3'
(R):5'- GTCTAAATGTGCCAACAGAAAAC -3'
|
Posted On |
2014-02-18 |