Incidental Mutation 'R0009:Dip2b'
| ID |
40500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
038304-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R0009 (G1)
|
| Quality Score |
153 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100038664-100219473 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100169312 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 565
(L565Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
[ENSMUST00000108971]
|
| AlphaFold |
Q3UH60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023768
AA Change: L331Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: L331Q
| 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: L565Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: L565Q
| 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 damaging
Transcript: ENSMUST00000108971
AA Change: L331Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: L331Q
| 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 |
0.7050 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (68/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,919,633 (GRCm38) |
|
probably benign |
Het |
| Abcg4 |
T |
G |
9: 44,277,649 (GRCm38) |
|
probably benign |
Het |
| Afm |
C |
A |
5: 90,545,384 (GRCm38) |
|
probably benign |
Het |
| Ahrr |
G |
A |
13: 74,283,024 (GRCm38) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 85,137,276 (GRCm38) |
|
probably null |
Het |
| Arih2 |
T |
A |
9: 108,611,727 (GRCm38) |
H264L |
probably damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,579,835 (GRCm38) |
I886N |
possibly damaging |
Het |
| Bmf |
A |
T |
2: 118,549,622 (GRCm38) |
V14E |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 17,144,039 (GRCm38) |
E15G |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,135,965 (GRCm38) |
N427D |
possibly damaging |
Het |
| Cfap53 |
A |
G |
18: 74,299,176 (GRCm38) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,349,906 (GRCm38) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,516,180 (GRCm38) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,701,413 (GRCm38) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,463,759 (GRCm38) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 119,020,046 (GRCm38) |
|
probably null |
Het |
| Dip2c |
T |
A |
13: 9,621,903 (GRCm38) |
C1004S |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,045,522 (GRCm38) |
I2135N |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,769,407 (GRCm38) |
|
probably benign |
Het |
| Dnase1 |
T |
C |
16: 4,038,946 (GRCm38) |
V147A |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 142,082,054 (GRCm38) |
|
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,662,787 (GRCm38) |
Y1828H |
probably damaging |
Het |
| Flvcr1 |
A |
G |
1: 191,008,191 (GRCm38) |
V544A |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,687,209 (GRCm38) |
V311A |
probably benign |
Het |
| Glud1 |
G |
A |
14: 34,334,268 (GRCm38) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,630,486 (GRCm38) |
V433I |
probably benign |
Het |
| Gstm3 |
T |
G |
3: 107,967,840 (GRCm38) |
Y62S |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,862,435 (GRCm38) |
P151S |
probably benign |
Het |
| Herc2 |
T |
C |
7: 56,207,812 (GRCm38) |
S4048P |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 138,221,683 (GRCm38) |
I19K |
probably benign |
Het |
| Htr7 |
C |
A |
19: 36,041,540 (GRCm38) |
|
probably benign |
Het |
| Il1a |
C |
T |
2: 129,309,074 (GRCm38) |
D10N |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,624,458 (GRCm38) |
N39I |
probably damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,379,255 (GRCm38) |
C267R |
possibly damaging |
Het |
| Larp1 |
A |
G |
11: 58,055,473 (GRCm38) |
K879R |
possibly damaging |
Het |
| Lcn5 |
T |
A |
2: 25,661,405 (GRCm38) |
|
probably benign |
Het |
| Lep |
T |
A |
6: 29,068,972 (GRCm38) |
C7* |
probably null |
Het |
| Magi2 |
A |
T |
5: 20,611,055 (GRCm38) |
Y747F |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,742,058 (GRCm38) |
T1223A |
probably damaging |
Het |
| Mcc |
C |
T |
18: 44,445,933 (GRCm38) |
E803K |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,611,508 (GRCm38) |
I796T |
probably benign |
Het |
| Myef2 |
A |
T |
2: 125,108,978 (GRCm38) |
D312E |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,767,929 (GRCm38) |
D119A |
probably damaging |
Het |
| Myo19 |
T |
A |
11: 84,888,169 (GRCm38) |
|
probably null |
Het |
| Naa15 |
T |
G |
3: 51,470,219 (GRCm38) |
H763Q |
probably damaging |
Het |
| Pde5a |
C |
T |
3: 122,824,902 (GRCm38) |
|
probably benign |
Het |
| Plpp2 |
C |
T |
10: 79,527,244 (GRCm38) |
R184H |
probably benign |
Het |
| Rab19 |
T |
G |
6: 39,389,687 (GRCm38) |
L179V |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,534,966 (GRCm38) |
M1087K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,489,367 (GRCm38) |
D361E |
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,226,293 (GRCm38) |
V123E |
probably damaging |
Het |
| Slc35e1 |
A |
T |
8: 72,484,709 (GRCm38) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,763,602 (GRCm38) |
E604V |
probably benign |
Het |
| Srp72 |
T |
C |
5: 76,987,885 (GRCm38) |
S221P |
probably damaging |
Het |
| Tbx19 |
A |
T |
1: 165,160,520 (GRCm38) |
S15T |
possibly damaging |
Het |
| Tcea2 |
A |
G |
2: 181,685,817 (GRCm38) |
T112A |
probably benign |
Het |
| Tesk1 |
T |
A |
4: 43,445,368 (GRCm38) |
D230E |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,510,712 (GRCm38) |
A179V |
probably damaging |
Het |
| Tnr |
G |
T |
1: 159,852,416 (GRCm38) |
G320V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,503,320 (GRCm38) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,914,446 (GRCm38) |
Y885N |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,002,879 (GRCm38) |
C505S |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,265,717 (GRCm38) |
A182T |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,204,786 (GRCm38) |
|
probably benign |
Het |
| Zfp637 |
C |
A |
6: 117,845,668 (GRCm38) |
H252Q |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,880,731 (GRCm38) |
D693E |
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 |
|
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 |
|
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'- TGTCACCATCCTCCAGCCAGTC -3'
(R):5'- GGGTAGGGGTAGAGATTACACTAGATGC -3'
Sequencing Primer
(F):5'- TCCAGCCAGTCTGTAGGG -3'
(R):5'- agagagagaaagagaggggg -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation