Incidental Mutation 'R7255:Dip2b'
| ID |
564227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
045316-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R7255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100038664-100219473 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100209627 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 1407
(D1407N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
|
| AlphaFold |
Q3UH60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023768
AA Change: D1173N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: D1173N
| 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 |
probably benign
Transcript: ENSMUST00000100203
AA Change: D1407N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: D1407N
| 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 |
|
| Meta Mutation Damage Score |
0.3081 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (66/68) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
A |
G |
19: 20,714,728 (GRCm38) |
S234P |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 67,853,004 (GRCm38) |
H650R |
probably damaging |
Het |
| Asic1 |
A |
G |
15: 99,697,457 (GRCm38) |
D355G |
probably damaging |
Het |
| Atp8b1 |
T |
A |
18: 64,556,868 (GRCm38) |
S598C |
probably damaging |
Het |
| Bcat1 |
C |
A |
6: 145,032,785 (GRCm38) |
E237* |
probably null |
Het |
| Btbd16 |
A |
T |
7: 130,785,992 (GRCm38) |
I114F |
probably benign |
Het |
| Casp2 |
A |
G |
6: 42,268,907 (GRCm38) |
D166G |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,606,555 (GRCm38) |
|
probably null |
Het |
| Cpsf1 |
G |
A |
15: 76,597,543 (GRCm38) |
T1099M |
probably damaging |
Het |
| Crisp4 |
C |
A |
1: 18,130,231 (GRCm38) |
A116S |
probably damaging |
Het |
| Cyb5r3 |
A |
G |
15: 83,160,165 (GRCm38) |
I168T |
probably damaging |
Het |
| Dnajc8 |
A |
G |
4: 132,551,573 (GRCm38) |
K201R |
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,543,099 (GRCm38) |
|
probably null |
Het |
| Dop1b |
C |
A |
16: 93,770,146 (GRCm38) |
H1272N |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,097,273 (GRCm38) |
R325Q |
probably benign |
Het |
| Enpp1 |
A |
T |
10: 24,645,315 (GRCm38) |
I838K |
possibly damaging |
Het |
| Fcna |
T |
G |
2: 25,626,028 (GRCm38) |
D159A |
probably damaging |
Het |
| Flnc |
G |
T |
6: 29,445,766 (GRCm38) |
G840C |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,580,406 (GRCm38) |
A1024T |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,246,255 (GRCm38) |
K207R |
probably null |
Het |
| Gbp2b |
T |
A |
3: 142,608,117 (GRCm38) |
L386Q |
probably damaging |
Het |
| Gm8297 |
T |
A |
14: 4,984,874 (GRCm38) |
N48K |
probably damaging |
Het |
| Gm9639 |
G |
A |
10: 77,794,538 (GRCm38) |
P180L |
unknown |
Het |
| Inpp5a |
A |
G |
7: 139,511,448 (GRCm38) |
N116S |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,385,988 (GRCm38) |
E984G |
probably benign |
Het |
| Klra4 |
A |
G |
6: 130,059,642 (GRCm38) |
F145L |
probably damaging |
Het |
| Lag3 |
A |
G |
6: 124,910,235 (GRCm38) |
L123P |
probably benign |
Het |
| Lyz3 |
T |
C |
10: 117,234,422 (GRCm38) |
H150R |
probably benign |
Het |
| Med7 |
T |
A |
11: 46,440,995 (GRCm38) |
M139K |
probably damaging |
Het |
| Mfsd2a |
A |
C |
4: 122,952,021 (GRCm38) |
L153R |
possibly damaging |
Het |
| Mup9 |
A |
G |
4: 60,421,337 (GRCm38) |
V71A |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,499,169 (GRCm38) |
Q927L |
unknown |
Het |
| Myo9b |
T |
C |
8: 71,290,891 (GRCm38) |
Y199H |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,116,000 (GRCm38) |
F406L |
probably benign |
Het |
| Or10ag2 |
T |
A |
2: 87,418,942 (GRCm38) |
L296Q |
probably damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,829,952 (GRCm38) |
F162I |
probably benign |
Het |
| Pamr1 |
T |
C |
2: 102,611,584 (GRCm38) |
F173L |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,796,667 (GRCm38) |
D1205E |
probably benign |
Het |
| Plxna2 |
T |
G |
1: 194,752,103 (GRCm38) |
F646V |
probably benign |
Het |
| Pnrc1 |
C |
T |
4: 33,248,045 (GRCm38) |
G118D |
probably benign |
Het |
| Ppp1r16b |
T |
C |
2: 158,761,391 (GRCm38) |
F412S |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,870,091 (GRCm38) |
V192E |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,794,048 (GRCm38) |
Y257H |
probably benign |
Het |
| Rfx7 |
T |
G |
9: 72,619,828 (GRCm38) |
S1433R |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 33,934,990 (GRCm38) |
F457L |
possibly damaging |
Het |
| Sanbr |
G |
A |
11: 23,620,465 (GRCm38) |
P145L |
probably benign |
Het |
| Sbspon |
G |
T |
1: 15,883,797 (GRCm38) |
C86* |
probably null |
Het |
| Sdhb |
A |
G |
4: 140,977,418 (GRCm38) |
E230G |
possibly damaging |
Het |
| Sema6b |
T |
C |
17: 56,125,336 (GRCm38) |
T581A |
probably benign |
Het |
| Shkbp1 |
G |
T |
7: 27,342,748 (GRCm38) |
T594K |
possibly damaging |
Het |
| Shpk |
A |
G |
11: 73,199,660 (GRCm38) |
S48G |
probably benign |
Het |
| Slc1a3 |
A |
G |
15: 8,642,999 (GRCm38) |
V332A |
possibly damaging |
Het |
| Slc25a25 |
T |
C |
2: 32,421,372 (GRCm38) |
E135G |
possibly damaging |
Het |
| Slc5a8 |
A |
T |
10: 88,909,631 (GRCm38) |
D367V |
probably damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,569,325 (GRCm38) |
T649A |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,376,800 (GRCm38) |
R180G |
probably benign |
Het |
| Spats1 |
T |
A |
17: 45,454,205 (GRCm38) |
D163V |
probably damaging |
Het |
| Ssh2 |
T |
A |
11: 77,425,593 (GRCm38) |
M304K |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,859,008 (GRCm38) |
D166E |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,333,446 (GRCm38) |
S1540P |
probably damaging |
Het |
| Tcf7l1 |
A |
T |
6: 72,627,347 (GRCm38) |
|
probably null |
Het |
| Tet1 |
A |
T |
10: 62,822,636 (GRCm38) |
M1477K |
probably benign |
Het |
| Tlr5 |
T |
C |
1: 182,974,316 (GRCm38) |
F395S |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,858,954 (GRCm38) |
L3847P |
probably damaging |
Het |
| Tsks |
C |
T |
7: 44,952,688 (GRCm38) |
S276L |
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,146,106 (GRCm38) |
E1519G |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,654,339 (GRCm38) |
|
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,974,282 (GRCm38) |
V2768A |
|
Het |
| Wdr26 |
A |
C |
1: 181,181,324 (GRCm38) |
I627R |
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,025,487 (GRCm38) |
S100T |
probably benign |
Het |
|
| Other mutations in Dip2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Dip2b
|
APN |
15 |
100,174,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01716:Dip2b
|
APN |
15 |
100,209,636 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01893:Dip2b
|
APN |
15 |
100,171,220 (GRCm38) |
splice site |
probably benign |
|
|
IGL01915:Dip2b
|
APN |
15 |
100,178,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02125:Dip2b
|
APN |
15 |
100,186,250 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
IGL02200:Dip2b
|
APN |
15 |
100,151,202 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02506:Dip2b
|
APN |
15 |
100,157,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02571:Dip2b
|
APN |
15 |
100,157,885 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02706:Dip2b
|
APN |
15 |
100,215,311 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02983:Dip2b
|
APN |
15 |
100,132,022 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL03120:Dip2b
|
APN |
15 |
100,203,127 (GRCm38) |
splice site |
probably benign |
|
|
IGL03181:Dip2b
|
APN |
15 |
100,215,207 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03229:Dip2b
|
APN |
15 |
100,207,838 (GRCm38) |
splice site |
probably benign |
|
|
IGL03399:Dip2b
|
APN |
15 |
100,175,327 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
PIT4131001:Dip2b
|
UTSW |
15 |
100,202,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0009:Dip2b
|
UTSW |
15 |
100,169,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0058:Dip2b
|
UTSW |
15 |
100,215,240 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0058:Dip2b
|
UTSW |
15 |
100,215,240 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0092:Dip2b
|
UTSW |
15 |
100,202,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0201:Dip2b
|
UTSW |
15 |
100,186,147 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0359:Dip2b
|
UTSW |
15 |
100,211,993 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0390:Dip2b
|
UTSW |
15 |
100,193,913 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0564:Dip2b
|
UTSW |
15 |
100,162,719 (GRCm38) |
nonsense |
probably null |
|
|
R0730:Dip2b
|
UTSW |
15 |
100,171,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1144:Dip2b
|
UTSW |
15 |
100,154,250 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1200:Dip2b
|
UTSW |
15 |
100,209,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1506:Dip2b
|
UTSW |
15 |
100,183,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1750:Dip2b
|
UTSW |
15 |
100,178,466 (GRCm38) |
missense |
probably benign |
|
|
R1760:Dip2b
|
UTSW |
15 |
100,212,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1773:Dip2b
|
UTSW |
15 |
100,193,961 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1812:Dip2b
|
UTSW |
15 |
100,198,938 (GRCm38) |
splice site |
probably null |
|
|
R2264:Dip2b
|
UTSW |
15 |
100,203,216 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3105:Dip2b
|
UTSW |
15 |
100,142,137 (GRCm38) |
nonsense |
probably null |
|
|
R4029:Dip2b
|
UTSW |
15 |
100,186,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4030:Dip2b
|
UTSW |
15 |
100,186,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4296:Dip2b
|
UTSW |
15 |
100,181,336 (GRCm38) |
missense |
probably benign |
|
|
R4392:Dip2b
|
UTSW |
15 |
100,162,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4480:Dip2b
|
UTSW |
15 |
100,186,301 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4564:Dip2b
|
UTSW |
15 |
100,157,258 (GRCm38) |
nonsense |
probably null |
|
|
R4605:Dip2b
|
UTSW |
15 |
100,209,636 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4606:Dip2b
|
UTSW |
15 |
100,215,329 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4634:Dip2b
|
UTSW |
15 |
100,160,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4667:Dip2b
|
UTSW |
15 |
100,151,360 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4739:Dip2b
|
UTSW |
15 |
100,207,777 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4826:Dip2b
|
UTSW |
15 |
100,169,281 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4870:Dip2b
|
UTSW |
15 |
100,195,784 (GRCm38) |
splice site |
probably null |
|
|
R4877:Dip2b
|
UTSW |
15 |
100,160,529 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4932:Dip2b
|
UTSW |
15 |
100,171,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5009:Dip2b
|
UTSW |
15 |
100,195,784 (GRCm38) |
splice site |
probably null |
|
|
R5169:Dip2b
|
UTSW |
15 |
100,205,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5216:Dip2b
|
UTSW |
15 |
100,211,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5218:Dip2b
|
UTSW |
15 |
100,154,296 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5274:Dip2b
|
UTSW |
15 |
100,212,104 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R5370:Dip2b
|
UTSW |
15 |
100,211,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5420:Dip2b
|
UTSW |
15 |
100,205,173 (GRCm38) |
intron |
probably benign |
|
|
R5447:Dip2b
|
UTSW |
15 |
100,211,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5670:Dip2b
|
UTSW |
15 |
100,190,104 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5768:Dip2b
|
UTSW |
15 |
100,157,945 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5908:Dip2b
|
UTSW |
15 |
100,151,184 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5957:Dip2b
|
UTSW |
15 |
100,209,694 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5987:Dip2b
|
UTSW |
15 |
100,190,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6260:Dip2b
|
UTSW |
15 |
100,162,702 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6325:Dip2b
|
UTSW |
15 |
100,154,282 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6367:Dip2b
|
UTSW |
15 |
100,115,914 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6391:Dip2b
|
UTSW |
15 |
100,151,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6422:Dip2b
|
UTSW |
15 |
100,199,011 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6818:Dip2b
|
UTSW |
15 |
100,193,954 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6922:Dip2b
|
UTSW |
15 |
100,193,843 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7002:Dip2b
|
UTSW |
15 |
100,160,465 (GRCm38) |
missense |
probably benign |
0.43 |
|
R7076:Dip2b
|
UTSW |
15 |
100,157,972 (GRCm38) |
splice site |
probably null |
|
|
R7176:Dip2b
|
UTSW |
15 |
100,169,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7463:Dip2b
|
UTSW |
15 |
100,154,157 (GRCm38) |
missense |
probably benign |
|
|
R7513:Dip2b
|
UTSW |
15 |
100,207,748 (GRCm38) |
splice site |
probably null |
|
|
R7876:Dip2b
|
UTSW |
15 |
100,191,041 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8368:Dip2b
|
UTSW |
15 |
100,154,243 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9289:Dip2b
|
UTSW |
15 |
100,173,271 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9405:Dip2b
|
UTSW |
15 |
100,195,876 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9477:Dip2b
|
UTSW |
15 |
100,038,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9485:Dip2b
|
UTSW |
15 |
100,155,043 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9533:Dip2b
|
UTSW |
15 |
100,175,297 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9581:Dip2b
|
UTSW |
15 |
100,181,374 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9666:Dip2b
|
UTSW |
15 |
100,209,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0064:Dip2b
|
UTSW |
15 |
100,115,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAAGCCAGTTAAGTCCCTC -3'
(R):5'- TGATGTGAACAGGCAGCTG -3'
Sequencing Primer
(F):5'- AACTCACTTTGTAGACCAGGCTGG -3'
(R):5'- CAGGCAGCTGGGAGAGAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation