Incidental Mutation 'R3419:Mbd6'
| ID |
266977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbd6
|
| Ensembl Gene |
ENSMUSG00000025409 |
| Gene Name |
methyl-CpG binding domain protein 6 |
| Synonyms |
D10Wsu93e |
| MMRRC Submission |
040637-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127117825-127124887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 127122372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 152
(R152P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026475]
[ENSMUST00000026476]
[ENSMUST00000026479]
[ENSMUST00000119078]
[ENSMUST00000172567]
[ENSMUST00000156208]
[ENSMUST00000139091]
[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
AA Change: R152P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026476
Gene: ENSMUSG00000025409
AA Change: R152P
| 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 null
Transcript: ENSMUST00000119078
AA Change: R152P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112805
Gene: ENSMUSG00000025409
AA Change: R152P
| 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 |
noncoding transcript
Transcript: ENSMUST00000174141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218556
|
| Predicted Effect |
probably null
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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000218752
|
| Predicted Effect |
probably null
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: ENSMUST00000230446
|
| Meta Mutation Damage Score |
0.0886 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,512,068 (GRCm39) |
L518P |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,993,684 (GRCm39) |
K181E |
probably benign |
Het |
| Bend3 |
T |
C |
10: 43,385,978 (GRCm39) |
S124P |
probably damaging |
Het |
| Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
| Dmbx1 |
G |
C |
4: 115,777,873 (GRCm39) |
R64G |
probably benign |
Het |
| Dpy19l2 |
T |
C |
9: 24,492,501 (GRCm39) |
E699G |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,188,597 (GRCm39) |
V666I |
probably benign |
Het |
| Eef2k |
T |
A |
7: 120,485,093 (GRCm39) |
M320K |
probably damaging |
Het |
| Exoc5 |
A |
T |
14: 49,260,735 (GRCm39) |
N377K |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
| Fchsd2 |
T |
A |
7: 100,927,867 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
A |
G |
12: 95,747,378 (GRCm39) |
Y572C |
probably damaging |
Het |
| Gm17093 |
A |
G |
14: 44,759,047 (GRCm39) |
I190V |
unknown |
Het |
| Gsto1 |
T |
C |
19: 47,846,344 (GRCm39) |
F64L |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,013,440 (GRCm39) |
S401P |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,522,921 (GRCm39) |
K200E |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lacc1 |
T |
G |
14: 77,272,321 (GRCm39) |
E158D |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
| Mapk6 |
T |
C |
9: 75,305,039 (GRCm39) |
E126G |
probably damaging |
Het |
| Or2h1b |
A |
T |
17: 37,462,242 (GRCm39) |
V53E |
probably damaging |
Het |
| Or52e15 |
A |
G |
7: 104,645,727 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8g17 |
C |
T |
9: 38,930,372 (GRCm39) |
C155Y |
probably benign |
Het |
| P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
| Paqr3 |
A |
G |
5: 97,247,559 (GRCm39) |
L183P |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
| Pik3r1 |
T |
C |
13: 101,828,723 (GRCm39) |
D25G |
probably benign |
Het |
| Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
| Polr3a |
A |
G |
14: 24,517,103 (GRCm39) |
L716P |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,413 (GRCm39) |
D500E |
probably benign |
Het |
| Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
| Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
| Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
| Sel1l |
A |
G |
12: 91,776,776 (GRCm39) |
W689R |
probably damaging |
Het |
| Serpinb13 |
T |
C |
1: 106,926,657 (GRCm39) |
S218P |
probably damaging |
Het |
| Serpini1 |
A |
G |
3: 75,547,589 (GRCm39) |
Y367C |
probably damaging |
Het |
| Snrnp48 |
G |
A |
13: 38,405,335 (GRCm39) |
D248N |
possibly damaging |
Het |
| St6galnac4 |
A |
G |
2: 32,485,743 (GRCm39) |
T217A |
probably damaging |
Het |
| Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
| Tmem30c |
A |
G |
16: 57,098,031 (GRCm39) |
V130A |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
| Tulp2 |
T |
A |
7: 45,168,176 (GRCm39) |
M196K |
possibly damaging |
Het |
| Unc5b |
G |
A |
10: 60,614,593 (GRCm39) |
R235W |
probably damaging |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,075 (GRCm39) |
M184K |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,320 (GRCm39) |
F754I |
probably benign |
Het |
| Vmn2r9 |
A |
C |
5: 108,994,299 (GRCm39) |
M450R |
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 |
|
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'- AGGCATCGCTACAGTGGAAG -3'
(R):5'- GAAAGGACATGGTTGTGACTTG -3'
Sequencing Primer
(F):5'- CACCAGGTTGGATCGGAG -3'
(R):5'- ACTTGTGGGCACTGGGAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation