Incidental Mutation 'R7176:Dip2b'
| ID |
558641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
045267-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.615)
|
| Stock # |
R7176 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99936545-100117354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100067199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 567
(H567R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
|
| AlphaFold |
Q3UH60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023768
AA Change: H333R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: H333R
| 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 damaging
Transcript: ENSMUST00000100203
AA Change: H567R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: H567R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
T |
17: 46,635,203 (GRCm39) |
H267N |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,539,720 (GRCm39) |
D695G |
probably benign |
Het |
| Adam21 |
C |
T |
12: 81,607,022 (GRCm39) |
D247N |
possibly damaging |
Het |
| Adnp |
T |
C |
2: 168,024,578 (GRCm39) |
N906D |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,416,594 (GRCm39) |
H1079Q |
probably damaging |
Het |
| Aqp3 |
T |
A |
4: 41,095,202 (GRCm39) |
N60Y |
probably damaging |
Het |
| Art4 |
T |
G |
6: 136,834,166 (GRCm39) |
T26P |
probably benign |
Het |
| Arvcf |
T |
C |
16: 18,218,477 (GRCm39) |
L553P |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,243,908 (GRCm39) |
I1487N |
probably damaging |
Het |
| Capn3 |
A |
T |
2: 120,334,973 (GRCm39) |
Y820F |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,401,941 (GRCm39) |
T39A |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,099,506 (GRCm39) |
S531T |
probably benign |
Het |
| Ccdc18 |
T |
A |
5: 108,315,972 (GRCm39) |
C481S |
probably benign |
Het |
| Ccnf |
A |
G |
17: 24,468,376 (GRCm39) |
I7T |
possibly damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cdkl4 |
A |
T |
17: 80,851,221 (GRCm39) |
Y160* |
probably null |
Het |
| Celsr3 |
C |
T |
9: 108,722,961 (GRCm39) |
P2783S |
probably benign |
Het |
| Cisd3 |
A |
T |
11: 97,576,959 (GRCm39) |
D11V |
probably benign |
Het |
| Daxx |
A |
T |
17: 34,132,292 (GRCm39) |
H512L |
unknown |
Het |
| Dnah7c |
C |
A |
1: 46,469,969 (GRCm39) |
A18E |
probably benign |
Het |
| Eif3d |
A |
T |
15: 77,847,434 (GRCm39) |
V268D |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,004,162 (GRCm39) |
M625V |
unknown |
Het |
| Foxn1 |
T |
C |
11: 78,251,693 (GRCm39) |
R513G |
possibly damaging |
Het |
| Gemin5 |
C |
T |
11: 58,056,828 (GRCm39) |
V134I |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,433 (GRCm39) |
R161G |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,772,525 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
T |
C |
1: 40,485,766 (GRCm39) |
Y306H |
probably damaging |
Het |
| Kbtbd7 |
A |
T |
14: 79,665,194 (GRCm39) |
E342V |
possibly damaging |
Het |
| Kyat3 |
A |
T |
3: 142,443,600 (GRCm39) |
K404N |
possibly damaging |
Het |
| Lins1 |
T |
C |
7: 66,363,553 (GRCm39) |
W483R |
probably benign |
Het |
| Lipo2 |
A |
G |
19: 33,723,207 (GRCm39) |
I194T |
possibly damaging |
Het |
| Mcm8 |
G |
T |
2: 132,661,992 (GRCm39) |
A137S |
probably benign |
Het |
| Mdm1 |
C |
A |
10: 117,978,770 (GRCm39) |
Q12K |
probably damaging |
Het |
| Mrgprb5 |
C |
A |
7: 47,818,059 (GRCm39) |
L225F |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,033,690 (GRCm39) |
H1068L |
|
Het |
| Ngef |
A |
T |
1: 87,408,417 (GRCm39) |
V550E |
possibly damaging |
Het |
| Nrg1 |
G |
A |
8: 32,458,064 (GRCm39) |
Q84* |
probably null |
Het |
| Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
| Ocln |
C |
A |
13: 100,651,590 (GRCm39) |
G327C |
probably damaging |
Het |
| Ocln |
A |
C |
13: 100,651,591 (GRCm39) |
N326K |
probably benign |
Het |
| Or10ag55-ps1 |
C |
T |
2: 87,115,378 (GRCm39) |
A248V |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,614,772 (GRCm39) |
D1960G |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,987,331 (GRCm39) |
D530G |
possibly damaging |
Het |
| Plod1 |
A |
T |
4: 147,997,744 (GRCm39) |
M655K |
probably benign |
Het |
| Ppp4r3b |
A |
G |
11: 29,148,904 (GRCm39) |
N449D |
probably damaging |
Het |
| Ppp6r3 |
G |
T |
19: 3,521,989 (GRCm39) |
T563K |
probably damaging |
Het |
| Prepl |
T |
A |
17: 85,376,454 (GRCm39) |
L533F |
probably benign |
Het |
| Rbl1 |
G |
A |
2: 157,030,245 (GRCm39) |
R421W |
probably damaging |
Het |
| Rrp15 |
G |
A |
1: 186,453,730 (GRCm39) |
S239L |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,530,944 (GRCm39) |
S815P |
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,506,632 (GRCm39) |
T1419I |
probably damaging |
Het |
| Setdb1 |
A |
G |
3: 95,244,458 (GRCm39) |
|
probably null |
Het |
| Shpk |
A |
G |
11: 73,113,814 (GRCm39) |
H409R |
probably benign |
Het |
| Slamf6 |
A |
C |
1: 171,761,858 (GRCm39) |
N93T |
probably benign |
Het |
| Slc27a4 |
A |
G |
2: 29,701,238 (GRCm39) |
N343S |
probably benign |
Het |
| Slc35g1 |
T |
A |
19: 38,391,771 (GRCm39) |
V351E |
probably damaging |
Het |
| Smcr8 |
A |
T |
11: 60,669,772 (GRCm39) |
I307F |
probably damaging |
Het |
| Spats2l |
T |
C |
1: 57,977,077 (GRCm39) |
I305T |
possibly damaging |
Het |
| Speer4c1 |
T |
C |
5: 15,916,536 (GRCm39) |
T144A |
probably benign |
Het |
| Tbl3 |
G |
A |
17: 24,919,732 (GRCm39) |
T774I |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,269,925 (GRCm39) |
H1724R |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,837,055 (GRCm39) |
S2830P |
probably benign |
Het |
| Vmn2r27 |
T |
A |
6: 124,168,995 (GRCm39) |
I712F |
probably benign |
Het |
| Wdr59 |
T |
G |
8: 112,219,388 (GRCm39) |
Q223P |
|
Het |
| Zfp28 |
T |
A |
7: 6,386,456 (GRCm39) |
C22S |
possibly damaging |
Het |
| Zfp536 |
T |
G |
7: 37,180,276 (GRCm39) |
|
probably null |
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 |
|
R5274:Dip2b
|
UTSW |
15 |
100,109,985 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
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 |
|
|
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'- TCTCAGCATCAGGGAGACACTG -3'
(R):5'- GGGATATAGCCCTTCTCAGATG -3'
Sequencing Primer
(F):5'- CATCAGGGAGACACTGATCTAATTG -3'
(R):5'- ACAGATGTGCACTACTGTACCTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation