Incidental Mutation 'R4877:Dip2b'
| ID |
375015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
042486-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R4877 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100038664-100219473 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100160529 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 196
(I196L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
[ENSMUST00000108971]
|
| AlphaFold |
Q3UH60 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023768
AA Change: I196L
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: I196L
| 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: I430L
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: I430L
| 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 |
possibly damaging
Transcript: ENSMUST00000108971
AA Change: I196L
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: I196L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230733
|
| Meta Mutation Damage Score |
0.1792 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (76/76) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,367,595 (GRCm38) |
Y475H |
probably damaging |
Het |
| Adamts12 |
G |
T |
15: 11,327,701 (GRCm38) |
G1388V |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm38) |
G601S |
probably damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,296,929 (GRCm38) |
|
probably null |
Het |
| Atp7b |
T |
A |
8: 22,028,601 (GRCm38) |
I74F |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,819,994 (GRCm38) |
Y1326H |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,885,877 (GRCm38) |
S690G |
probably damaging |
Het |
| Cbx3 |
A |
G |
6: 51,482,560 (GRCm38) |
E169G |
possibly damaging |
Het |
| Cd28 |
A |
T |
1: 60,769,702 (GRCm38) |
M192L |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 161,029,299 (GRCm38) |
|
probably benign |
Het |
| Cyp2c69 |
C |
T |
19: 39,877,612 (GRCm38) |
C179Y |
probably damaging |
Het |
| Cyp7b1 |
A |
T |
3: 18,097,293 (GRCm38) |
V252E |
probably damaging |
Het |
| Dcp2 |
G |
T |
18: 44,417,592 (GRCm38) |
G378C |
probably benign |
Het |
| Erbin |
G |
A |
13: 103,850,838 (GRCm38) |
P405S |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,831,293 (GRCm38) |
|
probably null |
Het |
| F830104G03Rik |
T |
G |
3: 56,890,496 (GRCm38) |
K33T |
unknown |
Het |
| Fbln2 |
C |
A |
6: 91,233,495 (GRCm38) |
H140Q |
probably damaging |
Het |
| Fxr1 |
A |
G |
3: 34,047,698 (GRCm38) |
T109A |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 89,897,349 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9949 |
C |
T |
18: 62,184,069 (GRCm38) |
|
probably benign |
Het |
| Grin2d |
A |
G |
7: 45,854,615 (GRCm38) |
L604P |
probably damaging |
Het |
| Gstcd |
A |
T |
3: 133,005,553 (GRCm38) |
|
probably benign |
Het |
| Ifna16 |
A |
G |
4: 88,676,444 (GRCm38) |
V138A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,325,205 (GRCm38) |
N1314I |
probably damaging |
Het |
| Kitl |
T |
C |
10: 100,080,866 (GRCm38) |
V177A |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,948,568 (GRCm38) |
Q185L |
probably damaging |
Het |
| Lhx9 |
T |
A |
1: 138,838,354 (GRCm38) |
N232I |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,628,123 (GRCm38) |
R111G |
probably benign |
Het |
| Lrrc41 |
A |
G |
4: 116,079,405 (GRCm38) |
I72M |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,234,038 (GRCm38) |
D39V |
possibly damaging |
Het |
| Lyrm7 |
A |
G |
11: 54,841,110 (GRCm38) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,683,149 (GRCm38) |
Y2508N |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,602,871 (GRCm38) |
Y70F |
probably benign |
Het |
| Mc4r |
T |
C |
18: 66,859,338 (GRCm38) |
I235V |
probably benign |
Het |
| Med12l |
G |
A |
3: 59,244,793 (GRCm38) |
V1000M |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,138,738 (GRCm38) |
H20R |
probably benign |
Het |
| Ms4a1 |
A |
T |
19: 11,254,493 (GRCm38) |
S173T |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,337,651 (GRCm38) |
D339A |
probably damaging |
Het |
| Nars1 |
A |
T |
18: 64,500,572 (GRCm38) |
Y542* |
probably null |
Het |
| Nectin2 |
G |
A |
7: 19,717,720 (GRCm38) |
T463I |
possibly damaging |
Het |
| Nrg4 |
A |
G |
9: 55,259,395 (GRCm38) |
F64L |
probably benign |
Het |
| Nrxn1 |
T |
A |
17: 91,088,177 (GRCm38) |
I184F |
probably benign |
Het |
| Nxph2 |
C |
T |
2: 23,399,834 (GRCm38) |
P66L |
probably benign |
Het |
| Or10ag2 |
C |
T |
2: 87,418,563 (GRCm38) |
Q170* |
probably null |
Het |
| Or2v1 |
C |
A |
11: 49,134,781 (GRCm38) |
F196L |
probably damaging |
Het |
| Pard3 |
A |
T |
8: 127,388,537 (GRCm38) |
T579S |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,569,058 (GRCm38) |
I48V |
possibly damaging |
Het |
| Paxbp1 |
T |
C |
16: 91,044,311 (GRCm38) |
|
probably benign |
Het |
| Pou2f3 |
A |
T |
9: 43,139,323 (GRCm38) |
N235K |
possibly damaging |
Het |
| Ppp2r2c |
A |
G |
5: 36,868,870 (GRCm38) |
D17G |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,692,887 (GRCm38) |
|
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,148,750 (GRCm38) |
V42A |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,026,171 (GRCm38) |
R247G |
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,535,733 (GRCm38) |
V156D |
probably damaging |
Het |
| Slc22a2 |
T |
A |
17: 12,614,815 (GRCm38) |
Y461N |
possibly damaging |
Het |
| Spag6l |
T |
C |
16: 16,781,758 (GRCm38) |
K280R |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,702,523 (GRCm38) |
L597P |
probably damaging |
Het |
| Srr |
G |
T |
11: 74,907,780 (GRCm38) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,864 (GRCm38) |
Q265H |
unknown |
Het |
| Tgif1 |
A |
C |
17: 70,849,705 (GRCm38) |
|
probably null |
Het |
| Tle3 |
A |
T |
9: 61,373,499 (GRCm38) |
|
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,189,862 (GRCm38) |
T439A |
probably benign |
Het |
| Twist1 |
C |
T |
12: 33,958,351 (GRCm38) |
T125M |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 71,658,616 (GRCm38) |
D317V |
possibly damaging |
Het |
| Vmn1r227 |
T |
A |
17: 20,735,145 (GRCm38) |
|
noncoding transcript |
Het |
| Vps72 |
G |
T |
3: 95,118,187 (GRCm38) |
|
probably benign |
Het |
| Zfp184 |
T |
C |
13: 21,960,328 (GRCm38) |
S735P |
possibly damaging |
Het |
| Zfp42 |
A |
T |
8: 43,295,688 (GRCm38) |
C259S |
possibly damaging |
Het |
| Zmiz2 |
A |
G |
11: 6,403,251 (GRCm38) |
H678R |
probably damaging |
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 |
|
|
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 |
|
R7255:Dip2b
|
UTSW |
15 |
100,209,627 (GRCm38) |
missense |
probably benign |
0.00 |
|
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'- GTTCATGGGGCTCTTACCAG -3'
(R):5'- CGTTCATAGGTTCGGAAAGTAAAGTTG -3'
Sequencing Primer
(F):5'- AGTCACTTAATTTCCTTCAGAGCAC -3'
(R):5'- GCAGGACCTACTATGTCA -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation