Incidental Mutation 'R0041:Mbd6'
| ID |
201496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbd6
|
| Ensembl Gene |
ENSMUSG00000025409 |
| Gene Name |
methyl-CpG binding domain protein 6 |
| Synonyms |
D10Wsu93e |
| MMRRC Submission |
038335-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0041 (G1)
|
| Quality Score |
63 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127117825-127124887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127122741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 103
(C103R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026475]
[ENSMUST00000026476]
[ENSMUST00000026479]
[ENSMUST00000119078]
[ENSMUST00000156208]
[ENSMUST00000230446]
[ENSMUST00000172567]
[ENSMUST00000139091]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000026476
AA Change: C103R
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
AA Change: C103R
| 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 |
possibly damaging
Transcript: ENSMUST00000119078
AA Change: C103R
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
AA Change: C103R
| 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 damaging
Transcript: ENSMUST00000156208
AA Change: C103R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114590
Gene: ENSMUSG00000025409
AA Change: C103R
| 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: ENSMUST00000172591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174167
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230446
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.8036 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
G |
2: 26,873,986 (GRCm39) |
R412G |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,832,326 (GRCm39) |
N927Y |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
| Agpat3 |
C |
A |
10: 78,123,881 (GRCm39) |
|
probably benign |
Het |
| AI182371 |
T |
A |
2: 34,975,733 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,845,342 (GRCm39) |
L170Q |
possibly damaging |
Het |
| Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
| Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
| Bspry |
G |
C |
4: 62,404,791 (GRCm39) |
A196P |
probably damaging |
Het |
| Cacna1c |
T |
A |
6: 118,570,988 (GRCm39) |
L2095F |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,651 (GRCm39) |
S908C |
probably damaging |
Het |
| Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
| Dynap |
A |
G |
18: 70,375,105 (GRCm39) |
S37P |
possibly damaging |
Het |
| Efna5 |
A |
T |
17: 62,914,467 (GRCm39) |
|
probably benign |
Het |
| Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
| Fbxw16 |
T |
A |
9: 109,277,232 (GRCm39) |
S37C |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,944,374 (GRCm39) |
Y33C |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
| Krt71 |
C |
A |
15: 101,647,753 (GRCm39) |
E222D |
probably damaging |
Het |
| Ltf |
T |
A |
9: 110,858,636 (GRCm39) |
D461E |
possibly damaging |
Het |
| Mapk4 |
A |
T |
18: 74,068,109 (GRCm39) |
L274Q |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,321,030 (GRCm39) |
N2047S |
probably benign |
Het |
| Nefh |
C |
T |
11: 4,895,184 (GRCm39) |
S335N |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 58,934,803 (GRCm39) |
H4715N |
probably damaging |
Het |
| Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
| Or6d13 |
G |
A |
6: 116,518,295 (GRCm39) |
V294I |
possibly damaging |
Het |
| Or8g34 |
T |
A |
9: 39,372,772 (GRCm39) |
F12Y |
probably benign |
Het |
| Pck1 |
A |
G |
2: 172,997,003 (GRCm39) |
E215G |
probably benign |
Het |
| Peg12 |
T |
A |
7: 62,113,308 (GRCm39) |
E263V |
unknown |
Het |
| Phkg1 |
T |
A |
5: 129,903,103 (GRCm39) |
T15S |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,914,076 (GRCm39) |
L1120* |
probably null |
Het |
| Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
| Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
| Rnf112 |
T |
A |
11: 61,343,181 (GRCm39) |
R165W |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,293,401 (GRCm39) |
T51A |
probably benign |
Het |
| Rnf220 |
A |
G |
4: 117,130,481 (GRCm39) |
L293P |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,414,851 (GRCm39) |
V2087A |
probably benign |
Het |
| Rpl7a |
A |
G |
2: 26,801,563 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
| Skor1 |
T |
G |
9: 63,053,133 (GRCm39) |
T279P |
probably damaging |
Het |
| Son |
A |
T |
16: 91,456,221 (GRCm39) |
E1656V |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
| Treh |
T |
C |
9: 44,594,910 (GRCm39) |
V262A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,954,370 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
T |
C |
3: 125,708,739 (GRCm39) |
I124V |
probably benign |
Het |
| Wdr53 |
T |
C |
16: 32,075,473 (GRCm39) |
V226A |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGCTGTCTTCTCCAGTCCCAG -3'
(R):5'- TGCCAGAGACTCAATGCATAAGCC -3'
Sequencing Primer
(F):5'- GTCCCAGTGCCCACAAGTC -3'
(R):5'- GAGACTCAATGCATAAGCCAATTAC -3'
|
| Posted On |
2014-06-13 |
Incidental Mutation