Incidental Mutation 'R5274:Dip2b'
| ID |
403847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
042837-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.615)
|
| Stock # |
R5274 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99936545-100117354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100109985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1490
(E1490G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
[ENSMUST00000108971]
|
| AlphaFold |
Q3UH60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023768
AA Change: E1256G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: E1256G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
109 |
584 |
9.5e-26 |
PFAM |
|
Pfam:AMP-binding
|
760 |
1235 |
1.2e-52 |
PFAM |
|
low complexity region
|
1299 |
1311 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100203
AA Change: E1490G
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: E1490G
| Domain | Start | End | E-Value | Type |
|---|
|
DMAP_binding
|
12 |
130 |
1e-42 |
SMART |
|
low complexity region
|
152 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
341 |
817 |
2e-26 |
PFAM |
|
Pfam:AMP-binding
|
993 |
1468 |
1.8e-64 |
PFAM |
|
low complexity region
|
1532 |
1544 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108971
AA Change: E1256G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: E1256G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
108 |
583 |
9.5e-26 |
PFAM |
|
Pfam:AMP-binding
|
759 |
1234 |
1.2e-52 |
PFAM |
|
low complexity region
|
1298 |
1310 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 98.0%
- 20x: 96.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,092,856 (GRCm39) |
R155H |
probably benign |
Het |
| Ace |
T |
C |
11: 105,858,863 (GRCm39) |
M19T |
probably benign |
Het |
| Agl |
A |
G |
3: 116,566,135 (GRCm39) |
L995P |
probably damaging |
Het |
| AY761185 |
T |
C |
8: 21,433,889 (GRCm39) |
N90S |
unknown |
Het |
| Brca2 |
T |
C |
5: 150,463,154 (GRCm39) |
S973P |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,576,250 (GRCm39) |
T66A |
probably damaging |
Het |
| Cbarp |
T |
C |
10: 79,967,649 (GRCm39) |
S531G |
possibly damaging |
Het |
| Cby2 |
A |
G |
14: 75,820,666 (GRCm39) |
V362A |
probably benign |
Het |
| Cd96 |
G |
T |
16: 45,890,066 (GRCm39) |
T319K |
possibly damaging |
Het |
| Ceacam23 |
T |
C |
7: 17,649,642 (GRCm39) |
|
probably null |
Het |
| Chil5 |
A |
C |
3: 105,936,169 (GRCm39) |
F41C |
probably damaging |
Het |
| Col24a1 |
A |
C |
3: 145,190,433 (GRCm39) |
E1239D |
probably benign |
Het |
| Dync1li1 |
T |
C |
9: 114,544,273 (GRCm39) |
V315A |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,116,540 (GRCm39) |
S99G |
probably benign |
Het |
| Dynlt5 |
A |
T |
4: 102,859,768 (GRCm39) |
T103S |
possibly damaging |
Het |
| E2f8 |
C |
T |
7: 48,516,925 (GRCm39) |
R818H |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,309,597 (GRCm39) |
V250A |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,200,350 (GRCm39) |
T615A |
probably benign |
Het |
| Fbxo38 |
A |
T |
18: 62,648,140 (GRCm39) |
D799E |
probably damaging |
Het |
| Fdft1 |
A |
G |
14: 63,389,792 (GRCm39) |
F288S |
probably damaging |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Gm4871 |
C |
G |
5: 144,967,180 (GRCm39) |
E185Q |
probably damaging |
Het |
| Gm5901 |
C |
A |
7: 105,026,655 (GRCm39) |
P141Q |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,306,691 (GRCm39) |
I933N |
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,442,062 (GRCm39) |
Q385R |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,518 (GRCm39) |
E634G |
probably damaging |
Het |
| Klk6 |
C |
G |
7: 43,478,553 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
G |
15: 98,752,111 (GRCm39) |
|
probably benign |
Het |
| Lig3 |
T |
A |
11: 82,688,118 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,234,456 (GRCm39) |
D310G |
probably null |
Het |
| Mroh6 |
A |
G |
15: 75,756,849 (GRCm39) |
V571A |
possibly damaging |
Het |
| Olfm5 |
A |
G |
7: 103,809,190 (GRCm39) |
S132P |
probably damaging |
Het |
| Or52n20 |
T |
C |
7: 104,320,733 (GRCm39) |
S275P |
probably damaging |
Het |
| Or5p64 |
A |
T |
7: 107,854,842 (GRCm39) |
F168I |
probably benign |
Het |
| Pacc1 |
T |
C |
1: 191,080,665 (GRCm39) |
V295A |
probably damaging |
Het |
| Patj |
G |
C |
4: 98,407,218 (GRCm39) |
S4T |
probably damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,899,475 (GRCm39) |
C102* |
probably null |
Het |
| Pik3ap1 |
T |
C |
19: 41,270,391 (GRCm39) |
D766G |
possibly damaging |
Het |
| Plch2 |
A |
T |
4: 155,083,411 (GRCm39) |
L408Q |
probably damaging |
Het |
| Pnma2 |
G |
T |
14: 67,154,209 (GRCm39) |
R211L |
probably damaging |
Het |
| Prkg2 |
T |
A |
5: 99,117,850 (GRCm39) |
H468L |
probably damaging |
Het |
| Rad1 |
T |
A |
15: 10,488,059 (GRCm39) |
|
probably null |
Het |
| Rims3 |
A |
G |
4: 120,748,571 (GRCm39) |
D264G |
probably damaging |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rrm2 |
T |
A |
12: 24,760,406 (GRCm39) |
Y75* |
probably null |
Het |
| Sall3 |
T |
C |
18: 81,013,052 (GRCm39) |
N1128S |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,018,899 (GRCm39) |
T610A |
possibly damaging |
Het |
| Snx29 |
G |
T |
16: 11,556,268 (GRCm39) |
E766D |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,111 (GRCm39) |
V298A |
possibly damaging |
Het |
| Ss18 |
G |
A |
18: 14,774,106 (GRCm39) |
Q228* |
probably null |
Het |
| Tas2r121 |
A |
G |
6: 132,677,811 (GRCm39) |
S54P |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,066,627 (GRCm39) |
E342G |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,920,037 (GRCm39) |
Y818H |
probably damaging |
Het |
| Usp15 |
C |
A |
10: 123,004,256 (GRCm39) |
R166I |
probably damaging |
Het |
| Vmn1r34 |
T |
G |
6: 66,614,123 (GRCm39) |
H205P |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,627,593 (GRCm39) |
M1K |
probably null |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zdhhc1 |
T |
C |
8: 106,210,402 (GRCm39) |
N5S |
probably benign |
Het |
| Zfp758 |
T |
A |
17: 22,594,836 (GRCm39) |
C441S |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,737,315 (GRCm39) |
E291G |
possibly damaging |
Het |
|
| Other mutations in Dip2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Dip2b
|
APN |
15 |
100,072,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01716:Dip2b
|
APN |
15 |
100,107,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01893:Dip2b
|
APN |
15 |
100,069,101 (GRCm39) |
splice site |
probably benign |
|
|
IGL01915:Dip2b
|
APN |
15 |
100,076,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Dip2b
|
APN |
15 |
100,084,131 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02200:Dip2b
|
APN |
15 |
100,049,083 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02506:Dip2b
|
APN |
15 |
100,055,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02571:Dip2b
|
APN |
15 |
100,055,766 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02706:Dip2b
|
APN |
15 |
100,113,192 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02983:Dip2b
|
APN |
15 |
100,029,903 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03120:Dip2b
|
APN |
15 |
100,101,008 (GRCm39) |
splice site |
probably benign |
|
|
IGL03181:Dip2b
|
APN |
15 |
100,113,088 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03229:Dip2b
|
APN |
15 |
100,105,719 (GRCm39) |
splice site |
probably benign |
|
|
IGL03399:Dip2b
|
APN |
15 |
100,073,208 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
PIT4131001:Dip2b
|
UTSW |
15 |
100,100,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Dip2b
|
UTSW |
15 |
100,067,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Dip2b
|
UTSW |
15 |
100,113,121 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0058:Dip2b
|
UTSW |
15 |
100,113,121 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0092:Dip2b
|
UTSW |
15 |
100,100,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Dip2b
|
UTSW |
15 |
100,084,028 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0359:Dip2b
|
UTSW |
15 |
100,109,874 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0390:Dip2b
|
UTSW |
15 |
100,091,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0564:Dip2b
|
UTSW |
15 |
100,060,600 (GRCm39) |
nonsense |
probably null |
|
|
R0730:Dip2b
|
UTSW |
15 |
100,069,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1144:Dip2b
|
UTSW |
15 |
100,052,131 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1200:Dip2b
|
UTSW |
15 |
100,107,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1506:Dip2b
|
UTSW |
15 |
100,080,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Dip2b
|
UTSW |
15 |
100,076,347 (GRCm39) |
missense |
probably benign |
|
|
R1760:Dip2b
|
UTSW |
15 |
100,109,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Dip2b
|
UTSW |
15 |
100,091,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1812:Dip2b
|
UTSW |
15 |
100,096,819 (GRCm39) |
splice site |
probably null |
|
|
R2264:Dip2b
|
UTSW |
15 |
100,101,097 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3105:Dip2b
|
UTSW |
15 |
100,040,018 (GRCm39) |
nonsense |
probably null |
|
|
R4029:Dip2b
|
UTSW |
15 |
100,084,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4030:Dip2b
|
UTSW |
15 |
100,084,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Dip2b
|
UTSW |
15 |
100,079,217 (GRCm39) |
missense |
probably benign |
|
|
R4392:Dip2b
|
UTSW |
15 |
100,059,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4480:Dip2b
|
UTSW |
15 |
100,084,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4564:Dip2b
|
UTSW |
15 |
100,055,139 (GRCm39) |
nonsense |
probably null |
|
|
R4605:Dip2b
|
UTSW |
15 |
100,107,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4606:Dip2b
|
UTSW |
15 |
100,113,210 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4634:Dip2b
|
UTSW |
15 |
100,058,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Dip2b
|
UTSW |
15 |
100,049,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4739:Dip2b
|
UTSW |
15 |
100,105,658 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4826:Dip2b
|
UTSW |
15 |
100,067,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4870:Dip2b
|
UTSW |
15 |
100,093,665 (GRCm39) |
splice site |
probably null |
|
|
R4877:Dip2b
|
UTSW |
15 |
100,058,410 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4932:Dip2b
|
UTSW |
15 |
100,069,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5009:Dip2b
|
UTSW |
15 |
100,093,665 (GRCm39) |
splice site |
probably null |
|
|
R5169:Dip2b
|
UTSW |
15 |
100,102,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5216:Dip2b
|
UTSW |
15 |
100,109,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5218:Dip2b
|
UTSW |
15 |
100,052,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5370:Dip2b
|
UTSW |
15 |
100,109,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Dip2b
|
UTSW |
15 |
100,103,054 (GRCm39) |
intron |
probably benign |
|
|
R5447:Dip2b
|
UTSW |
15 |
100,109,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Dip2b
|
UTSW |
15 |
100,087,985 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5768:Dip2b
|
UTSW |
15 |
100,055,826 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5908:Dip2b
|
UTSW |
15 |
100,049,065 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5957:Dip2b
|
UTSW |
15 |
100,107,575 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5987:Dip2b
|
UTSW |
15 |
100,087,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Dip2b
|
UTSW |
15 |
100,060,583 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6325:Dip2b
|
UTSW |
15 |
100,052,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6367:Dip2b
|
UTSW |
15 |
100,013,795 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6391:Dip2b
|
UTSW |
15 |
100,049,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6422:Dip2b
|
UTSW |
15 |
100,096,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6818:Dip2b
|
UTSW |
15 |
100,091,835 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6922:Dip2b
|
UTSW |
15 |
100,091,724 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7002:Dip2b
|
UTSW |
15 |
100,058,346 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7076:Dip2b
|
UTSW |
15 |
100,055,853 (GRCm39) |
splice site |
probably null |
|
|
R7176:Dip2b
|
UTSW |
15 |
100,067,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Dip2b
|
UTSW |
15 |
100,107,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7463:Dip2b
|
UTSW |
15 |
100,052,038 (GRCm39) |
missense |
probably benign |
|
|
R7513:Dip2b
|
UTSW |
15 |
100,105,629 (GRCm39) |
splice site |
probably null |
|
|
R7876:Dip2b
|
UTSW |
15 |
100,088,922 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8368:Dip2b
|
UTSW |
15 |
100,052,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9289:Dip2b
|
UTSW |
15 |
100,071,152 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9405:Dip2b
|
UTSW |
15 |
100,093,757 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9477:Dip2b
|
UTSW |
15 |
99,936,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Dip2b
|
UTSW |
15 |
100,052,924 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9533:Dip2b
|
UTSW |
15 |
100,073,178 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9581:Dip2b
|
UTSW |
15 |
100,079,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9666:Dip2b
|
UTSW |
15 |
100,107,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Dip2b
|
UTSW |
15 |
100,013,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTCTTAATGCCAACACC -3'
(R):5'- AGATTGAATGTCAGGGCGC -3'
Sequencing Primer
(F):5'- GCCAACACCTTATTGAACGTGTGG -3'
(R):5'- GTAACGCACACTTGATTGAGAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation