Incidental Mutation 'R6260:Dip2b'
ID |
506650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dip2b
|
Ensembl Gene |
ENSMUSG00000023026 |
Gene Name |
disco interacting protein 2 homolog B |
Synonyms |
|
MMRRC Submission |
044377-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.596)
|
Stock # |
R6260 (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 T
at 100162702 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 253
(V253L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
[ENSMUST00000108971]
|
AlphaFold |
Q3UH60 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023768
AA Change: V253L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000023768 Gene: ENSMUSG00000023026 AA Change: V253L
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: V487L
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000097777 Gene: ENSMUSG00000023026 AA Change: V487L
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: V253L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000104599 Gene: ENSMUSG00000023026 AA Change: V253L
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (77/78) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 80,008,987 (GRCm38) |
N1514K |
probably damaging |
Het |
Abcb4 |
G |
T |
5: 8,934,219 (GRCm38) |
G650* |
probably null |
Het |
Acsbg1 |
T |
A |
9: 54,628,467 (GRCm38) |
|
probably null |
Het |
Alms1 |
A |
T |
6: 85,628,735 (GRCm38) |
K2456* |
probably null |
Het |
Alppl2 |
A |
T |
1: 87,088,462 (GRCm38) |
M225K |
probably damaging |
Het |
Ank2 |
C |
T |
3: 126,943,557 (GRCm38) |
V2806I |
probably benign |
Het |
Atxn10 |
A |
T |
15: 85,462,411 (GRCm38) |
I457F |
probably benign |
Het |
Cad |
G |
T |
5: 31,066,800 (GRCm38) |
M800I |
probably null |
Het |
Carmil3 |
T |
A |
14: 55,500,432 (GRCm38) |
L815Q |
probably damaging |
Het |
Ccz1 |
A |
G |
5: 144,004,041 (GRCm38) |
|
probably null |
Het |
Cdc73 |
G |
A |
1: 143,691,473 (GRCm38) |
T104I |
probably benign |
Het |
Cfap52 |
A |
T |
11: 67,938,954 (GRCm38) |
C330S |
possibly damaging |
Het |
Clec16a |
C |
T |
16: 10,694,848 (GRCm38) |
|
probably benign |
Het |
Cntn3 |
A |
G |
6: 102,277,217 (GRCm38) |
|
probably null |
Het |
Crocc2 |
A |
G |
1: 93,213,638 (GRCm38) |
K1171R |
possibly damaging |
Het |
Ctsa |
T |
C |
2: 164,834,361 (GRCm38) |
V86A |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,731,751 (GRCm38) |
A524V |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 25,752,117 (GRCm38) |
F244L |
probably benign |
Het |
Ddn |
A |
G |
15: 98,805,854 (GRCm38) |
V519A |
possibly damaging |
Het |
Dnah17 |
C |
A |
11: 118,126,322 (GRCm38) |
W197C |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 118,126,323 (GRCm38) |
W197* |
probably null |
Het |
Dnah17 |
A |
T |
11: 118,126,324 (GRCm38) |
W197R |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,557,856 (GRCm38) |
D609E |
probably benign |
Het |
Erg |
C |
A |
16: 95,380,241 (GRCm38) |
R147L |
probably damaging |
Het |
Fbxo41 |
A |
T |
6: 85,478,555 (GRCm38) |
L549H |
probably damaging |
Het |
Foxd4 |
A |
G |
19: 24,899,604 (GRCm38) |
S411P |
probably benign |
Het |
Gaa |
C |
A |
11: 119,281,171 (GRCm38) |
A700D |
probably benign |
Het |
Galntl6 |
T |
A |
8: 57,884,481 (GRCm38) |
D135V |
probably damaging |
Het |
Gm1043 |
G |
C |
5: 37,174,472 (GRCm38) |
G832A |
probably benign |
Het |
Gm14085 |
A |
T |
2: 122,523,482 (GRCm38) |
I530F |
probably damaging |
Het |
Gm21103 |
C |
T |
14: 6,303,847 (GRCm38) |
E68K |
probably damaging |
Het |
Gm340 |
A |
T |
19: 41,582,370 (GRCm38) |
S1C |
probably null |
Het |
Gm340 |
G |
T |
19: 41,582,371 (GRCm38) |
S1I |
possibly damaging |
Het |
Gpam |
A |
G |
19: 55,083,406 (GRCm38) |
V301A |
probably benign |
Het |
H2-M10.1 |
T |
A |
17: 36,324,102 (GRCm38) |
I304F |
unknown |
Het |
Itgb4 |
C |
T |
11: 115,984,157 (GRCm38) |
R447W |
probably benign |
Het |
Jak3 |
C |
A |
8: 71,679,310 (GRCm38) |
Q177K |
probably benign |
Het |
Kcnu1 |
G |
A |
8: 25,851,891 (GRCm38) |
R88H |
probably damaging |
Het |
Kng1 |
A |
T |
16: 23,058,621 (GRCm38) |
I60F |
possibly damaging |
Het |
Krt77 |
A |
T |
15: 101,864,372 (GRCm38) |
Y257* |
probably null |
Het |
Lgr6 |
C |
T |
1: 134,994,010 (GRCm38) |
A199T |
probably damaging |
Het |
Map4k5 |
C |
A |
12: 69,831,562 (GRCm38) |
R355L |
probably benign |
Het |
Mefv |
C |
T |
16: 3,713,034 (GRCm38) |
R498H |
probably benign |
Het |
Mical3 |
A |
T |
6: 121,009,030 (GRCm38) |
L150Q |
probably damaging |
Het |
Mtcl1 |
T |
A |
17: 66,343,541 (GRCm38) |
Q1340L |
probably damaging |
Het |
Nfic |
A |
T |
10: 81,420,517 (GRCm38) |
C126* |
probably null |
Het |
Nisch |
T |
A |
14: 31,177,128 (GRCm38) |
|
probably benign |
Het |
Nt5dc3 |
A |
G |
10: 86,811,531 (GRCm38) |
Y130C |
probably damaging |
Het |
Olfr1309 |
C |
T |
2: 111,984,051 (GRCm38) |
V8I |
probably benign |
Het |
Olfr694 |
A |
T |
7: 106,688,872 (GRCm38) |
N286K |
probably damaging |
Het |
Olfr808 |
C |
A |
10: 129,767,520 (GRCm38) |
T8K |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,436,839 (GRCm38) |
V346A |
probably benign |
Het |
Pla2g4a |
A |
G |
1: 149,857,487 (GRCm38) |
S504P |
probably benign |
Het |
Plin2 |
G |
T |
4: 86,657,289 (GRCm38) |
A341D |
probably damaging |
Het |
Plxnb2 |
A |
T |
15: 89,165,291 (GRCm38) |
I575N |
probably benign |
Het |
Pnmal2 |
T |
G |
7: 16,946,233 (GRCm38) |
W381G |
probably benign |
Het |
Psma8 |
A |
G |
18: 14,721,267 (GRCm38) |
D68G |
probably damaging |
Het |
Rcor3 |
G |
A |
1: 192,124,259 (GRCm38) |
H207Y |
probably benign |
Het |
Rwdd2b |
C |
A |
16: 87,434,468 (GRCm38) |
G266V |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,660,104 (GRCm38) |
F3795S |
probably damaging |
Het |
Sord |
T |
A |
2: 122,259,132 (GRCm38) |
|
probably null |
Het |
Spdl1 |
T |
A |
11: 34,819,886 (GRCm38) |
N345I |
probably damaging |
Het |
St8sia2 |
T |
A |
7: 73,976,693 (GRCm38) |
R42S |
possibly damaging |
Het |
Syt9 |
G |
T |
7: 107,436,510 (GRCm38) |
V245F |
possibly damaging |
Het |
Tbpl2 |
T |
A |
2: 24,094,886 (GRCm38) |
N82I |
possibly damaging |
Het |
Tcerg1 |
T |
A |
18: 42,553,465 (GRCm38) |
Y696N |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,667,918 (GRCm38) |
T492A |
probably benign |
Het |
Timm13 |
A |
C |
10: 80,900,301 (GRCm38) |
|
probably benign |
Het |
Trdmt1 |
T |
A |
2: 13,520,059 (GRCm38) |
Q195L |
probably benign |
Het |
Ttc27 |
T |
A |
17: 74,858,091 (GRCm38) |
V764D |
probably damaging |
Het |
Ttc39d |
C |
A |
17: 80,216,647 (GRCm38) |
S245* |
probably null |
Het |
Ttc41 |
A |
T |
10: 86,733,707 (GRCm38) |
T650S |
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,731,159 (GRCm38) |
E563G |
probably benign |
Het |
U2surp |
A |
C |
9: 95,476,157 (GRCm38) |
L723R |
probably damaging |
Het |
Ubqln3 |
G |
A |
7: 104,142,317 (GRCm38) |
Q189* |
probably null |
Het |
Vezf1 |
A |
G |
11: 88,081,500 (GRCm38) |
N229S |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 87,037,157 (GRCm38) |
M582K |
probably benign |
Het |
Zfp518a |
A |
G |
19: 40,914,123 (GRCm38) |
D832G |
probably benign |
Het |
Zfyve28 |
T |
C |
5: 34,198,872 (GRCm38) |
N762D |
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 |
|
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 |
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'- TCAAAGAAGCTGTGACTGGTG -3'
(R):5'- CTGTTCATAAACGCCAACTCTG -3'
Sequencing Primer
(F):5'- AAGAAGCTGTGACTGGTGATTTATC -3'
(R):5'- CGAAGGTCCATTACAAGACATTTAC -3'
|
Posted On |
2018-03-15 |