Incidental Mutation 'IGL03395:Mbd6'
| ID |
421210 |
| 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 # |
IGL03395
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127117825-127124887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127119286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 950
(R950C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026476]
[ENSMUST00000026479]
[ENSMUST00000119078]
[ENSMUST00000156208]
[ENSMUST00000172567]
|
| AlphaFold |
Q3TY92 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026476
AA Change: R952C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
AA Change: R952C
| 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 |
probably damaging
Transcript: ENSMUST00000119078
AA Change: R950C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
AA Change: R950C
| 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: R598C
|
| SMART Domains |
Protein: ENSMUSP00000115238
Gene: ENSMUSG00000025409
AA Change: R598C
| 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 |
unknown
Transcript: ENSMUST00000136169
AA Change: R57C
|
| SMART Domains |
Protein: ENSMUSP00000122504
Gene: ENSMUSG00000025409
AA Change: R57C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154851
AA Change: R74C
|
| SMART Domains |
Protein: ENSMUSP00000133835
Gene: ENSMUSG00000025409
AA Change: R74C
| 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: ENSMUST00000218752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218556
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,663,746 (GRCm39) |
D308G |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,761,701 (GRCm39) |
I155F |
probably damaging |
Het |
| Ado |
T |
C |
10: 67,384,368 (GRCm39) |
Y79C |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,107,884 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,734 (GRCm39) |
D165E |
probably damaging |
Het |
| Ccdc124 |
A |
C |
8: 71,321,251 (GRCm39) |
M163R |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,304 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
A |
G |
17: 41,234,449 (GRCm39) |
L247P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,294,978 (GRCm39) |
V479A |
probably benign |
Het |
| Egfr |
T |
C |
11: 16,860,261 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,472,359 (GRCm39) |
Q352L |
probably damaging |
Het |
| Emc9 |
C |
T |
14: 55,822,197 (GRCm39) |
A72T |
probably benign |
Het |
| Fbxo5 |
G |
A |
10: 5,751,935 (GRCm39) |
S226F |
probably benign |
Het |
| Gm42688 |
A |
C |
6: 83,085,352 (GRCm39) |
E737D |
possibly damaging |
Het |
| Got1l1 |
G |
T |
8: 27,690,885 (GRCm39) |
H54Q |
probably benign |
Het |
| Grid2 |
G |
A |
6: 63,886,053 (GRCm39) |
V150I |
possibly damaging |
Het |
| Klc4 |
C |
T |
17: 46,943,789 (GRCm39) |
V506M |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,754,495 (GRCm39) |
N90S |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,681,617 (GRCm39) |
|
probably null |
Het |
| Nol11 |
A |
G |
11: 107,066,548 (GRCm39) |
V414A |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,225,847 (GRCm39) |
M123K |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,272,325 (GRCm39) |
E177G |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,614,262 (GRCm39) |
D396E |
probably benign |
Het |
| Pcyt2 |
A |
T |
11: 120,503,876 (GRCm39) |
|
probably null |
Het |
| Pds5a |
T |
C |
5: 65,809,792 (GRCm39) |
D390G |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,224,999 (GRCm39) |
T155A |
probably benign |
Het |
| Rab31 |
T |
A |
17: 66,003,362 (GRCm39) |
H95L |
probably benign |
Het |
| Rfx5 |
C |
T |
3: 94,865,113 (GRCm39) |
R259* |
probably null |
Het |
| Slc6a17 |
T |
C |
3: 107,384,622 (GRCm39) |
D285G |
probably damaging |
Het |
| Spats2l |
A |
T |
1: 57,977,175 (GRCm39) |
I318F |
probably damaging |
Het |
| Spef1l |
G |
T |
7: 139,556,589 (GRCm39) |
|
probably benign |
Het |
| Tcf12 |
A |
G |
9: 71,783,304 (GRCm39) |
S361P |
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 |
|
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 |
2016-08-02 |
Incidental Mutation