Incidental Mutation 'R5095:Mbtd1'
| ID |
395836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbtd1
|
| Ensembl Gene |
ENSMUSG00000059474 |
| Gene Name |
mbt domain containing 1 |
| Synonyms |
hemp |
| MMRRC Submission |
042684-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5095 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
93776678-93837811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93820497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 431
(S431P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063645]
[ENSMUST00000063718]
[ENSMUST00000107852]
[ENSMUST00000107853]
[ENSMUST00000107854]
|
| AlphaFold |
Q6P5G3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063645
AA Change: S431P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070248
Gene: ENSMUSG00000059474
AA Change: S431P
| 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: S453P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065442
Gene: ENSMUSG00000059474
AA Change: S453P
| 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 |
probably damaging
Transcript: ENSMUST00000107853
AA Change: S431P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103485
Gene: ENSMUSG00000059474
AA Change: S431P
| 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: S431P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103486
Gene: ENSMUSG00000059474
AA Change: S431P
| 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: ENSMUST00000138281
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155518
|
| Meta Mutation Damage Score |
0.2075 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (59/60) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021A07Rik |
G |
C |
10: 21,301,492 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrv1 |
C |
T |
13: 81,243,606 (GRCm39) |
V6265I |
probably benign |
Het |
| Agbl1 |
G |
A |
7: 76,369,881 (GRCm39) |
G660D |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,811,392 (GRCm39) |
Y1140H |
probably damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,679,657 (GRCm39) |
|
probably null |
Het |
| C1rb |
A |
T |
6: 124,557,272 (GRCm39) |
R470W |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,691,564 (GRCm39) |
T1074A |
probably benign |
Het |
| Cdh19 |
T |
A |
1: 110,882,391 (GRCm39) |
T34S |
probably benign |
Het |
| Csnk1a1 |
T |
A |
18: 61,708,547 (GRCm39) |
Y175N |
probably damaging |
Het |
| F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
T |
A |
11: 49,517,986 (GRCm39) |
V342D |
possibly damaging |
Het |
| Frmd5 |
A |
T |
2: 121,379,402 (GRCm39) |
C394S |
possibly damaging |
Het |
| Gm5414 |
T |
G |
15: 101,532,473 (GRCm39) |
N550T |
probably benign |
Het |
| Hcn3 |
C |
A |
3: 89,057,230 (GRCm39) |
R456L |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,981,739 (GRCm39) |
V893A |
possibly damaging |
Het |
| Ift46 |
A |
G |
9: 44,698,146 (GRCm39) |
D203G |
probably damaging |
Het |
| Itga10 |
G |
T |
3: 96,555,480 (GRCm39) |
V145L |
probably benign |
Het |
| Kcnh6 |
A |
G |
11: 105,908,080 (GRCm39) |
D232G |
possibly damaging |
Het |
| Mmp27 |
T |
A |
9: 7,572,159 (GRCm39) |
W120R |
probably damaging |
Het |
| Mmp27 |
A |
T |
9: 7,579,001 (GRCm39) |
D418V |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,059,302 (GRCm39) |
D510G |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,091,671 (GRCm39) |
K1179* |
probably null |
Het |
| Neto1 |
T |
C |
18: 86,416,406 (GRCm39) |
S38P |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,573,916 (GRCm39) |
|
probably benign |
Het |
| Nuggc |
C |
T |
14: 65,872,539 (GRCm39) |
R512* |
probably null |
Het |
| Oas1e |
T |
A |
5: 120,932,329 (GRCm39) |
K105* |
probably null |
Het |
| Omd |
T |
A |
13: 49,743,174 (GRCm39) |
S75T |
possibly damaging |
Het |
| Or10a3m |
T |
C |
7: 108,313,019 (GRCm39) |
F141S |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,754,487 (GRCm39) |
N190S |
probably benign |
Het |
| Picalm |
T |
C |
7: 89,819,841 (GRCm39) |
F85L |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,110,048 (GRCm39) |
V360A |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,423,841 (GRCm39) |
D1017G |
probably damaging |
Het |
| Prss56 |
G |
C |
1: 87,115,833 (GRCm39) |
R569P |
probably damaging |
Het |
| Rab6b |
G |
A |
9: 103,017,583 (GRCm39) |
G25R |
probably damaging |
Het |
| Rdh10 |
A |
G |
1: 16,201,609 (GRCm39) |
T332A |
probably benign |
Het |
| Rheb |
A |
T |
5: 25,012,639 (GRCm39) |
M115K |
probably benign |
Het |
| Rnf149 |
A |
T |
1: 39,594,737 (GRCm39) |
D321E |
probably benign |
Het |
| Rps28 |
C |
T |
17: 34,042,177 (GRCm39) |
|
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,424,119 (GRCm39) |
V616A |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,305,169 (GRCm39) |
K300R |
probably damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Spata31h1 |
G |
T |
10: 82,119,501 (GRCm39) |
A4503E |
probably damaging |
Het |
| Srp68 |
C |
T |
11: 116,139,573 (GRCm39) |
V459M |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,439,801 (GRCm39) |
V346I |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,999,600 (GRCm39) |
D2331G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,564,536 (GRCm39) |
Y28534N |
probably damaging |
Het |
| Usp44 |
A |
T |
10: 93,682,707 (GRCm39) |
I386F |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,436,317 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,061 (GRCm39) |
L834F |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,923,348 (GRCm39) |
I3741K |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,348,232 (GRCm39) |
T2204A |
possibly damaging |
Het |
| Zfp607b |
T |
A |
7: 27,393,061 (GRCm39) |
|
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 |
|
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'- CCAAGCATCTTAAGTCATCCCTTTG -3'
(R):5'- CGTACAACAACTAAGATTAGGGC -3'
Sequencing Primer
(F):5'- GCATCTTAAGTCATCCCTTTGTAAAC -3'
(R):5'- TTAGGGCTATGTTAAATGTAAGCAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation