Incidental Mutation 'R5420:Dip2b'
| ID |
428016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
042988-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.636)
|
| Stock # |
R5420 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99936545-100117354 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 100103054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
| 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 |
noncoding transcript
Transcript: ENSMUST00000135658
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
97% (66/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
TGCGCAGC |
T |
19: 4,915,372 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
A |
T |
16: 85,596,497 (GRCm39) |
C117* |
probably null |
Het |
| Adgrg6 |
A |
T |
10: 14,302,730 (GRCm39) |
Y894* |
probably null |
Het |
| Alas1 |
G |
T |
9: 106,111,358 (GRCm39) |
L603I |
probably benign |
Het |
| Arhgap21 |
G |
T |
2: 20,885,897 (GRCm39) |
R427S |
probably damaging |
Het |
| Arhgef25 |
A |
T |
10: 127,023,143 (GRCm39) |
V88D |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,202,551 (GRCm39) |
Q691R |
possibly damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,831,250 (GRCm39) |
I272N |
probably damaging |
Het |
| Cacybp |
T |
C |
1: 160,035,914 (GRCm39) |
|
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,325,777 (GRCm39) |
|
probably benign |
Het |
| Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
| Cideb |
A |
C |
14: 55,995,748 (GRCm39) |
M1R |
probably null |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,925,322 (GRCm39) |
R760H |
probably damaging |
Het |
| Cyp2c23 |
A |
C |
19: 44,004,103 (GRCm39) |
|
probably null |
Het |
| Cyp3a13 |
T |
G |
5: 137,897,243 (GRCm39) |
D357A |
probably damaging |
Het |
| Ecm2 |
A |
T |
13: 49,681,210 (GRCm39) |
R448S |
possibly damaging |
Het |
| Edil3 |
T |
C |
13: 89,279,891 (GRCm39) |
Y190H |
probably damaging |
Het |
| Eps8l1 |
T |
G |
7: 4,473,160 (GRCm39) |
|
probably null |
Het |
| Eps8l3 |
A |
T |
3: 107,791,301 (GRCm39) |
K280* |
probably null |
Het |
| Fam184a |
A |
G |
10: 53,509,753 (GRCm39) |
F1137L |
probably damaging |
Het |
| Fmn2 |
A |
T |
1: 174,526,344 (GRCm39) |
R1388* |
probably null |
Het |
| Glt8d2 |
T |
C |
10: 82,488,516 (GRCm39) |
K318R |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,853,578 (GRCm39) |
K3690I |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,308,599 (GRCm39) |
I466F |
possibly damaging |
Het |
| Jade2 |
T |
C |
11: 51,709,434 (GRCm39) |
K525R |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,759,633 (GRCm39) |
F772I |
probably damaging |
Het |
| Lipi |
A |
G |
16: 75,352,757 (GRCm39) |
V360A |
possibly damaging |
Het |
| Mbl1 |
C |
T |
14: 40,879,153 (GRCm39) |
S108L |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mrpl23 |
A |
G |
7: 142,089,874 (GRCm39) |
T25A |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,360,109 (GRCm39) |
M199K |
probably benign |
Het |
| Nes |
A |
T |
3: 87,884,309 (GRCm39) |
N812I |
probably damaging |
Het |
| Nfkbie |
T |
A |
17: 45,871,132 (GRCm39) |
D261E |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,355 (GRCm39) |
Y293C |
probably damaging |
Het |
| Pakap |
G |
A |
4: 57,856,062 (GRCm39) |
V505I |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,856,434 (GRCm39) |
Y588N |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,772,754 (GRCm39) |
I114V |
possibly damaging |
Het |
| Pappa |
T |
G |
4: 65,254,017 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
T |
A |
5: 57,877,529 (GRCm39) |
D361E |
probably damaging |
Het |
| Pick1 |
A |
G |
15: 79,133,040 (GRCm39) |
T367A |
probably benign |
Het |
| Plbd2 |
A |
G |
5: 120,632,547 (GRCm39) |
Y152H |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,671,562 (GRCm39) |
E424D |
possibly damaging |
Het |
| Rab7b |
C |
T |
1: 131,626,164 (GRCm39) |
T64I |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,434,249 (GRCm38) |
I310F |
possibly damaging |
Het |
| Rdh16f2 |
C |
T |
10: 127,712,943 (GRCm39) |
P314S |
possibly damaging |
Het |
| Rpain |
A |
T |
11: 70,868,516 (GRCm39) |
|
probably null |
Het |
| Rufy3 |
T |
C |
5: 88,788,518 (GRCm39) |
*488Q |
probably null |
Het |
| Sash1 |
G |
A |
10: 8,621,950 (GRCm39) |
T398I |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scrn1 |
T |
A |
6: 54,489,048 (GRCm39) |
I358F |
probably benign |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Thbs1 |
G |
T |
2: 117,943,636 (GRCm39) |
D85Y |
possibly damaging |
Het |
| Thoc2l |
T |
A |
5: 104,666,225 (GRCm39) |
I249N |
probably damaging |
Het |
| Trp53 |
T |
C |
11: 69,479,146 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,675 (GRCm39) |
R90G |
probably benign |
Het |
| Zfp521 |
A |
T |
18: 13,977,144 (GRCm39) |
Y1090N |
probably damaging |
Het |
| Zfp677 |
T |
C |
17: 21,618,175 (GRCm39) |
C411R |
probably damaging |
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 |
|
R1144:Dip2b
|
UTSW |
15 |
100,052,131 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
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 |
PCR Primer
(F):5'- AAGTGAGAATGAGCTCTCCGAC -3'
(R):5'- ACAAACTGGGGTTTCAAATCCTAC -3'
Sequencing Primer
(F):5'- GACAGCAGACATTTCCCATTTGTGG -3'
(R):5'- AACTGGGGTTTCAAATCCTACTCCAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation