Incidental Mutation 'IGL02741:Mbd6'
| ID |
305924 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mbd6
|
| Ensembl Gene |
ENSMUSG00000025409 |
| Gene Name |
methyl-CpG binding domain protein 6 |
| Synonyms |
D10Wsu93e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02741
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127117825-127124887 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 127123263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026475]
[ENSMUST00000026476]
[ENSMUST00000119078]
[ENSMUST00000139091]
[ENSMUST00000156208]
[ENSMUST00000172567]
[ENSMUST00000230446]
|
| AlphaFold |
Q3TY92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026475
|
| SMART Domains |
Protein: ENSMUSP00000026475
Gene: ENSMUSG00000025408
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
BRLZ
|
94 |
160 |
1.23e-5 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026476
|
| SMART Domains |
Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
| 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 null
Transcript: ENSMUST00000119078
|
| SMART Domains |
Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
| 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 |
probably benign
Transcript: ENSMUST00000126243
|
| SMART Domains |
Protein: ENSMUSP00000115238
Gene: ENSMUSG00000025409
| 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 |
noncoding transcript
Transcript: ENSMUST00000134686
|
| 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: ENSMUST00000139091
|
| SMART Domains |
Protein: ENSMUSP00000118339
Gene: ENSMUSG00000025408
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
BRLZ
|
94 |
160 |
1.23e-5 |
SMART |
|
| Predicted Effect |
probably null
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: 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: 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 |
probably benign
Transcript: ENSMUST00000230446
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
T |
C |
2: 18,032,007 (GRCm39) |
Y37C |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,759,945 (GRCm39) |
C599S |
probably benign |
Het |
| Bcl6b |
C |
A |
11: 70,119,942 (GRCm39) |
R15L |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,406,530 (GRCm39) |
D2262N |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,604,553 (GRCm39) |
M1007V |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,959,152 (GRCm39) |
K1032R |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,839,230 (GRCm39) |
M1583K |
probably benign |
Het |
| Gjc3 |
A |
T |
5: 137,955,726 (GRCm39) |
C186* |
probably null |
Het |
| Gm14496 |
A |
G |
2: 181,633,136 (GRCm39) |
R40G |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,608,665 (GRCm39) |
R416G |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,355,294 (GRCm39) |
F385L |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,341,700 (GRCm39) |
S304P |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,935,114 (GRCm39) |
F183S |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,312,316 (GRCm39) |
T334S |
probably damaging |
Het |
| Pigw |
C |
T |
11: 84,769,192 (GRCm39) |
V46I |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,701,631 (GRCm39) |
E1435G |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,290,253 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,570,590 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,051,521 (GRCm39) |
I247N |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,471 (GRCm39) |
Q923R |
possibly damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rps6ka2 |
T |
A |
17: 7,563,415 (GRCm39) |
F608I |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,150,707 (GRCm39) |
|
probably null |
Het |
| Slc6a20b |
C |
T |
9: 123,436,667 (GRCm39) |
V249M |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,401,961 (GRCm39) |
I783V |
possibly damaging |
Het |
| Swap70 |
G |
T |
7: 109,873,856 (GRCm39) |
M401I |
probably benign |
Het |
| Tmco4 |
A |
T |
4: 138,757,188 (GRCm39) |
I407F |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 44,967,912 (GRCm39) |
S340C |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,848,943 (GRCm39) |
E79G |
probably damaging |
Het |
| Ubr1 |
A |
C |
2: 120,771,572 (GRCm39) |
S439A |
probably benign |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,710 (GRCm39) |
V176A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,568,077 (GRCm39) |
D67N |
probably benign |
Het |
| Wasf1 |
C |
T |
10: 40,806,705 (GRCm39) |
T116M |
probably damaging |
Het |
| Zkscan3 |
A |
T |
13: 21,578,164 (GRCm39) |
M241K |
probably benign |
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 |
|
|
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 |
|
|
R3742:Mbd6
|
UTSW |
10 |
127,120,812 (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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation