Incidental Mutation 'R4826:Dip2b'
| ID |
374165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
042442-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R4826 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100038664-100219473 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100169281 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 555
(N555D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
[ENSMUST00000108971]
|
| AlphaFold |
Q3UH60 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023768
AA Change: N321D
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: N321D
| 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: N555D
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: N555D
| 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: N321D
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: N321D
| 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 |
0.2314 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110002H16Rik |
G |
T |
18: 12,185,779 (GRCm38) |
|
probably benign |
Het |
| Abca14 |
A |
T |
7: 120,216,247 (GRCm38) |
R239S |
probably damaging |
Het |
| Acin1 |
A |
G |
14: 54,664,617 (GRCm38) |
S573P |
probably damaging |
Het |
| Acta2 |
A |
T |
19: 34,251,823 (GRCm38) |
Y55* |
probably null |
Het |
| Aifm2 |
T |
C |
10: 61,725,989 (GRCm38) |
M38T |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,956,001 (GRCm38) |
V460L |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 5,018,043 (GRCm38) |
S185P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,438,802 (GRCm38) |
Y399C |
probably damaging |
Het |
| Clec2d |
T |
C |
6: 129,184,159 (GRCm38) |
V73A |
probably benign |
Het |
| Cntln |
T |
G |
4: 85,005,044 (GRCm38) |
M582R |
probably benign |
Het |
| Cyp4a10 |
C |
T |
4: 115,518,344 (GRCm38) |
P8L |
probably benign |
Het |
| Dusp4 |
T |
A |
8: 34,818,517 (GRCm38) |
F311I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 138,177,945 (GRCm38) |
V1245A |
possibly damaging |
Het |
| Ephb3 |
G |
A |
16: 21,214,995 (GRCm38) |
R23H |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,762,630 (GRCm38) |
T410A |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,436,531 (GRCm38) |
E124G |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,982,957 (GRCm38) |
V3586E |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,601,297 (GRCm38) |
S611P |
probably damaging |
Het |
| Gcn1l1 |
A |
G |
5: 115,593,693 (GRCm38) |
T956A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,470,785 (GRCm38) |
T107K |
unknown |
Het |
| Gm7102 |
C |
T |
19: 61,175,926 (GRCm38) |
G24R |
unknown |
Het |
| Herc6 |
T |
A |
6: 57,647,087 (GRCm38) |
M614K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,565,395 (GRCm38) |
C4095R |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,576 (GRCm38) |
I463T |
possibly damaging |
Het |
| Icam5 |
C |
T |
9: 21,037,803 (GRCm38) |
A817V |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,701,353 (GRCm38) |
D1366E |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,611,906 (GRCm38) |
V553I |
probably damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,763,275 (GRCm38) |
I92F |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 128,720,308 (GRCm38) |
C435S |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,743,308 (GRCm38) |
M216V |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,680,648 (GRCm38) |
V979A |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,788,946 (GRCm38) |
Y400* |
probably null |
Het |
| Narfl |
A |
G |
17: 25,780,332 (GRCm38) |
H240R |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,251,342 (GRCm38) |
R1033G |
possibly damaging |
Het |
| Nit1 |
T |
C |
1: 171,345,598 (GRCm38) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,242,517 (GRCm38) |
|
noncoding transcript |
Het |
| Nt5c1a |
T |
C |
4: 123,208,572 (GRCm38) |
V97A |
probably damaging |
Het |
| Olfr1154 |
T |
A |
2: 87,903,349 (GRCm38) |
D109V |
probably damaging |
Het |
| Olfr358 |
A |
G |
2: 37,005,333 (GRCm38) |
Y94H |
probably damaging |
Het |
| Olfr43 |
A |
G |
11: 74,206,331 (GRCm38) |
M295T |
possibly damaging |
Het |
| Olfr46 |
T |
A |
7: 140,610,319 (GRCm38) |
M51K |
probably benign |
Het |
| Olfr683 |
G |
T |
7: 105,143,968 (GRCm38) |
N108K |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,192,380 (GRCm38) |
|
probably null |
Het |
| Pkn2 |
T |
C |
3: 142,809,509 (GRCm38) |
K640R |
probably damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,308,679 (GRCm38) |
S263P |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 31,764,606 (GRCm38) |
S73P |
possibly damaging |
Het |
| Prr27 |
A |
C |
5: 87,850,966 (GRCm38) |
|
probably benign |
Het |
| Rad54b |
G |
T |
4: 11,599,753 (GRCm38) |
W319L |
probably damaging |
Het |
| Rassf8 |
T |
A |
6: 145,816,550 (GRCm38) |
L349H |
probably damaging |
Het |
| Rnf113a2 |
T |
A |
12: 84,417,614 (GRCm38) |
N93K |
probably benign |
Het |
| Sapcd2 |
C |
T |
2: 25,372,756 (GRCm38) |
A109V |
probably benign |
Het |
| Slamf9 |
C |
A |
1: 172,476,441 (GRCm38) |
H118N |
probably benign |
Het |
| Slc37a1 |
A |
G |
17: 31,322,173 (GRCm38) |
Y213C |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,159,150 (GRCm38) |
D580G |
probably benign |
Het |
| Slc7a2 |
T |
A |
8: 40,911,046 (GRCm38) |
I432N |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,689,837 (GRCm38) |
L76Q |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,535,115 (GRCm38) |
P391L |
unknown |
Het |
| Tdrd12 |
A |
C |
7: 35,504,157 (GRCm38) |
V314G |
probably benign |
Het |
| Zbtb7b |
A |
G |
3: 89,380,773 (GRCm38) |
L246S |
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 |
|
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 |
|
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'- AGTGTTTCTTCTGTGACCGC -3'
(R):5'- GGGATATAGCCCTTCTCAGATG -3'
Sequencing Primer
(F):5'- TGACCGCATCACACTGTC -3'
(R):5'- AGGGTCTAAACTCAGGTCCTCATG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation