Incidental Mutation 'R1144:Dip2b'
| ID |
102325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
039217-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.636)
|
| Stock # |
R1144 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99936545-100117354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100052131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 244
(I244K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
|
| AlphaFold |
Q3UH60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023768
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
| 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: I244K
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: I244K
| 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 |
|
| Meta Mutation Damage Score |
0.0588 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
C |
T |
7: 119,960,083 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,241,188 (GRCm39) |
|
probably benign |
Het |
| Acsl5 |
A |
C |
19: 55,280,275 (GRCm39) |
D516A |
probably damaging |
Het |
| Adcy1 |
G |
A |
11: 7,087,400 (GRCm39) |
A425T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,818,475 (GRCm39) |
T107A |
probably benign |
Het |
| Arhgef33 |
T |
C |
17: 80,662,473 (GRCm39) |
S219P |
probably benign |
Het |
| Atm |
T |
G |
9: 53,422,998 (GRCm39) |
|
probably benign |
Het |
| C1ql2 |
A |
C |
1: 120,270,266 (GRCm39) |
Y276S |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,527,595 (GRCm39) |
|
probably null |
Het |
| Cmbl |
A |
G |
15: 31,582,020 (GRCm39) |
N6D |
probably benign |
Het |
| Cntn3 |
A |
G |
6: 102,219,087 (GRCm39) |
V511A |
possibly damaging |
Het |
| Coq9 |
C |
A |
8: 95,569,251 (GRCm39) |
R28S |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,460,922 (GRCm39) |
F20S |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,623,764 (GRCm39) |
K404E |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,362,238 (GRCm39) |
E3700K |
probably damaging |
Het |
| Dnmt3l |
T |
A |
10: 77,887,739 (GRCm39) |
C110S |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr1 |
T |
G |
8: 26,048,159 (GRCm39) |
V172G |
probably damaging |
Het |
| Frem3 |
C |
A |
8: 81,338,513 (GRCm39) |
Q269K |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,923,942 (GRCm39) |
H67N |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,341,929 (GRCm39) |
T1532A |
possibly damaging |
Het |
| Git2 |
G |
T |
5: 114,891,375 (GRCm39) |
S243R |
probably benign |
Het |
| Grid1 |
A |
G |
14: 35,284,633 (GRCm39) |
|
probably benign |
Het |
| Grp |
A |
G |
18: 66,013,041 (GRCm39) |
D69G |
probably damaging |
Het |
| Hmbox1 |
A |
T |
14: 65,063,132 (GRCm39) |
L347Q |
probably damaging |
Het |
| Hsh2d |
C |
T |
8: 72,947,436 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,333,897 (GRCm39) |
S2018N |
probably benign |
Het |
| Kif13b |
T |
A |
14: 64,951,566 (GRCm39) |
V69D |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lmcd1 |
T |
A |
6: 112,287,712 (GRCm39) |
|
probably benign |
Het |
| Megf9 |
C |
A |
4: 70,452,861 (GRCm39) |
A67S |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,758,658 (GRCm39) |
R213H |
probably damaging |
Het |
| Myo5c |
T |
A |
9: 75,193,730 (GRCm39) |
Y1162N |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,181,103 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
G |
A |
3: 87,688,849 (GRCm39) |
T568I |
probably damaging |
Het |
| Pcmtd1 |
A |
G |
1: 7,190,705 (GRCm39) |
H58R |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,590,695 (GRCm39) |
D74G |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,174,091 (GRCm39) |
I1168N |
possibly damaging |
Het |
| Ppm1h |
A |
G |
10: 122,777,183 (GRCm39) |
D483G |
probably benign |
Het |
| Prdm15 |
G |
A |
16: 97,609,908 (GRCm39) |
R579C |
probably damaging |
Het |
| Prickle1 |
T |
A |
15: 93,410,342 (GRCm39) |
R41W |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,261,081 (GRCm39) |
D235G |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,772,638 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
C |
1: 93,208,298 (GRCm39) |
G785R |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,123,288 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,013,298 (GRCm39) |
F2830I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,963,200 (GRCm39) |
D304G |
possibly damaging |
Het |
| Thsd7a |
G |
A |
6: 12,471,026 (GRCm39) |
|
probably benign |
Het |
| Tmem63b |
T |
A |
17: 45,977,353 (GRCm39) |
K383N |
probably benign |
Het |
| Trp53rka |
C |
A |
2: 165,334,961 (GRCm39) |
|
probably benign |
Het |
| Trub1 |
G |
A |
19: 57,473,563 (GRCm39) |
V207M |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,690,886 (GRCm39) |
C551S |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,573,206 (GRCm39) |
|
probably null |
Het |
| Vmn1r219 |
C |
A |
13: 23,347,383 (GRCm39) |
Q191K |
probably damaging |
Het |
| Vmn2r1 |
A |
T |
3: 63,997,541 (GRCm39) |
D399V |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,312,098 (GRCm39) |
|
probably benign |
Het |
| Wars1 |
A |
T |
12: 108,854,291 (GRCm39) |
L41* |
probably null |
Het |
| Washc2 |
G |
A |
6: 116,201,495 (GRCm39) |
E64K |
probably damaging |
Het |
| Washc4 |
G |
A |
10: 83,416,194 (GRCm39) |
R828Q |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,213,576 (GRCm39) |
M313K |
probably benign |
Het |
| Wscd2 |
G |
A |
5: 113,699,151 (GRCm39) |
|
probably null |
Het |
| Zdhhc20 |
A |
C |
14: 58,094,135 (GRCm39) |
L176V |
probably benign |
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 |
|
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 |
|
|
R7176:Dip2b
|
UTSW |
15 |
100,067,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation