Incidental Mutation 'R3742:Mbd6'
| ID |
270416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbd6
|
| Ensembl Gene |
ENSMUSG00000025409 |
| Gene Name |
methyl-CpG binding domain protein 6 |
| Synonyms |
D10Wsu93e |
| MMRRC Submission |
040728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3742 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127117825-127124887 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 127120812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026476]
[ENSMUST00000026479]
[ENSMUST00000119078]
[ENSMUST00000156208]
[ENSMUST00000172567]
|
| AlphaFold |
Q3TY92 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000026476
AA Change: P614S
|
| SMART Domains |
Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
AA Change: P614S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MBD
|
26 |
79 |
8e-10 |
BLAST |
|
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
799 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
890 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
958 |
N/A |
INTRINSIC |
|
low complexity region
|
978 |
1002 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026479
|
| SMART Domains |
Protein: ENSMUSP00000026479
Gene: ENSMUSG00000025410
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynamitin
|
16 |
400 |
7.1e-129 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000119078
AA Change: P614S
|
| SMART Domains |
Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
AA Change: P614S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MBD
|
26 |
79 |
8e-10 |
BLAST |
|
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
851 |
888 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
956 |
N/A |
INTRINSIC |
|
low complexity region
|
976 |
1000 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126243
AA Change: P261S
|
| SMART Domains |
Protein: ENSMUSP00000115238
Gene: ENSMUSG00000025409
AA Change: P261S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
610 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136169
|
| SMART Domains |
Protein: ENSMUSP00000122504
Gene: ENSMUSG00000025409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154851
|
| SMART Domains |
Protein: ENSMUSP00000133835
Gene: ENSMUSG00000025409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156208
|
| SMART Domains |
Protein: ENSMUSP00000114590
Gene: ENSMUSG00000025409
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qk9a_
|
22 |
88 |
6e-5 |
SMART |
|
Blast:MBD
|
26 |
79 |
6e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172591
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172567
|
| SMART Domains |
Protein: ENSMUSP00000134527
Gene: ENSMUSG00000025409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218752
|
| Meta Mutation Damage Score |
0.0626 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,334,828 (GRCm39) |
H41Q |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,982,938 (GRCm39) |
R3605M |
unknown |
Het |
| Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,095,076 (GRCm39) |
M718T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,058 (GRCm39) |
T842S |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,532,973 (GRCm39) |
Q388R |
probably benign |
Het |
| Fbxo6 |
A |
G |
4: 148,234,090 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,930,104 (GRCm39) |
Y281D |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Gtpbp2 |
A |
G |
17: 46,476,808 (GRCm39) |
T329A |
probably benign |
Het |
| Hemgn |
T |
C |
4: 46,396,421 (GRCm39) |
T272A |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,213,812 (GRCm39) |
C22R |
probably damaging |
Het |
| Hoxc13 |
G |
A |
15: 102,829,873 (GRCm39) |
G84D |
possibly damaging |
Het |
| Ing5 |
T |
A |
1: 93,740,398 (GRCm39) |
S106R |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
| Or10ag52 |
A |
G |
2: 87,043,340 (GRCm39) |
I35V |
probably benign |
Het |
| Or5b106 |
A |
G |
19: 13,123,258 (GRCm39) |
F255S |
probably damaging |
Het |
| Or7e168 |
A |
T |
9: 19,720,195 (GRCm39) |
I194F |
probably benign |
Het |
| Or7g25 |
A |
G |
9: 19,159,979 (GRCm39) |
S239P |
possibly damaging |
Het |
| Pde4d |
T |
G |
13: 109,877,013 (GRCm39) |
V53G |
probably benign |
Het |
| Shisa9 |
G |
A |
16: 12,085,528 (GRCm39) |
R379Q |
probably damaging |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,388 (GRCm39) |
D39G |
possibly damaging |
Het |
| Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,170 (GRCm39) |
L296* |
probably null |
Het |
| Zfp605 |
G |
T |
5: 110,276,564 (GRCm39) |
G561W |
probably damaging |
Het |
|
| Other mutations in Mbd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00917:Mbd6
|
APN |
10 |
127,119,988 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01685:Mbd6
|
APN |
10 |
127,120,601 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02741:Mbd6
|
APN |
10 |
127,123,263 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03090:Mbd6
|
APN |
10 |
127,123,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03395:Mbd6
|
APN |
10 |
127,119,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0041:Mbd6
|
UTSW |
10 |
127,122,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Mbd6
|
UTSW |
10 |
127,121,742 (GRCm39) |
unclassified |
probably benign |
|
|
R0507:Mbd6
|
UTSW |
10 |
127,119,389 (GRCm39) |
unclassified |
probably benign |
|
|
R1686:Mbd6
|
UTSW |
10 |
127,123,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3418:Mbd6
|
UTSW |
10 |
127,122,372 (GRCm39) |
missense |
probably null |
0.83 |
|
R3419:Mbd6
|
UTSW |
10 |
127,122,372 (GRCm39) |
missense |
probably null |
0.83 |
|
R3724:Mbd6
|
UTSW |
10 |
127,119,760 (GRCm39) |
unclassified |
probably benign |
|
|
R3731:Mbd6
|
UTSW |
10 |
127,121,637 (GRCm39) |
unclassified |
probably benign |
|
|
R3800:Mbd6
|
UTSW |
10 |
127,121,036 (GRCm39) |
unclassified |
probably benign |
|
|
R5023:Mbd6
|
UTSW |
10 |
127,122,310 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5024:Mbd6
|
UTSW |
10 |
127,122,310 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5053:Mbd6
|
UTSW |
10 |
127,122,310 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5056:Mbd6
|
UTSW |
10 |
127,122,310 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5568:Mbd6
|
UTSW |
10 |
127,119,297 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5656:Mbd6
|
UTSW |
10 |
127,121,155 (GRCm39) |
unclassified |
probably benign |
|
|
R7607:Mbd6
|
UTSW |
10 |
127,121,099 (GRCm39) |
missense |
unknown |
|
|
R9366:Mbd6
|
UTSW |
10 |
127,122,304 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATACCCTGGGTCTTACCTGG -3'
(R):5'- TTCCTTAGCCACAGTTTATTTGGTG -3'
Sequencing Primer
(F):5'- CAGCAGCGCAGAATTTAAAGCTATG -3'
(R):5'- AGCCACAGTTTATTTGGTGTGCTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation