Incidental Mutation 'R7002:Dip2b'
| ID |
544628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
045107-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.615)
|
| Stock # |
R7002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99936545-100117354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100058346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 408
(N408K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
|
| AlphaFold |
Q3UH60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023768
AA Change: N174K
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: N174K
| 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: N408K
PolyPhen 2
Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: N408K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,832,390 (GRCm39) |
S1308P |
probably damaging |
Het |
| Abl2 |
A |
T |
1: 156,386,703 (GRCm39) |
R29W |
probably damaging |
Het |
| Adam6b |
C |
A |
12: 113,453,327 (GRCm39) |
S48* |
probably null |
Het |
| Adamts18 |
T |
A |
8: 114,501,922 (GRCm39) |
D313V |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,882,810 (GRCm39) |
S229G |
probably benign |
Het |
| Apol10a |
G |
A |
15: 77,369,046 (GRCm39) |
R15H |
possibly damaging |
Het |
| Bend4 |
T |
A |
5: 67,555,602 (GRCm39) |
T535S |
probably benign |
Het |
| Blm |
T |
C |
7: 80,119,501 (GRCm39) |
K1024R |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,463,383 (GRCm39) |
V1049A |
probably benign |
Het |
| Cerk |
T |
C |
15: 86,040,795 (GRCm39) |
Y188C |
possibly damaging |
Het |
| Cic |
C |
T |
7: 24,971,621 (GRCm39) |
R451C |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 77,002,177 (GRCm39) |
V10E |
unknown |
Het |
| Cplx1 |
T |
A |
5: 108,668,182 (GRCm39) |
K58M |
probably damaging |
Het |
| Crybg1 |
T |
A |
10: 43,874,831 (GRCm39) |
D759V |
probably damaging |
Het |
| Cwc25 |
A |
T |
11: 97,638,897 (GRCm39) |
N342K |
probably damaging |
Het |
| Dab2 |
A |
T |
15: 6,464,846 (GRCm39) |
T566S |
probably benign |
Het |
| Depdc5 |
G |
A |
5: 33,034,502 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,598,955 (GRCm39) |
I3631T |
probably damaging |
Het |
| Dnase1 |
A |
G |
16: 3,857,410 (GRCm39) |
I236V |
possibly damaging |
Het |
| Duox1 |
C |
T |
2: 122,150,358 (GRCm39) |
Q196* |
probably null |
Het |
| Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
| Erich5 |
C |
T |
15: 34,471,508 (GRCm39) |
L246F |
probably damaging |
Het |
| Frmpd1 |
C |
T |
4: 45,284,200 (GRCm39) |
A1007V |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,819,687 (GRCm39) |
I5140N |
possibly damaging |
Het |
| Gan |
T |
C |
8: 117,922,586 (GRCm39) |
C440R |
possibly damaging |
Het |
| Garnl3 |
T |
A |
2: 32,944,205 (GRCm39) |
H73L |
possibly damaging |
Het |
| Gid8 |
T |
G |
2: 180,355,096 (GRCm39) |
M34R |
possibly damaging |
Het |
| Gjd4 |
C |
A |
18: 9,280,960 (GRCm39) |
L39F |
possibly damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grhpr |
T |
C |
4: 44,990,427 (GRCm39) |
S306P |
probably damaging |
Het |
| H2bc21 |
A |
G |
3: 96,128,689 (GRCm39) |
I70V |
probably benign |
Het |
| Hdac4 |
T |
G |
1: 91,896,083 (GRCm39) |
K729T |
possibly damaging |
Het |
| Igfbp2 |
C |
T |
1: 72,888,804 (GRCm39) |
H85Y |
probably damaging |
Het |
| Igkv4-61 |
T |
G |
6: 69,394,373 (GRCm39) |
I13L |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,514,013 (GRCm39) |
S73N |
probably benign |
Het |
| Immt |
T |
C |
6: 71,838,024 (GRCm39) |
V244A |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,265,981 (GRCm39) |
Y745C |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,329,554 (GRCm39) |
V1526A |
probably benign |
Het |
| Jrkl |
A |
T |
9: 13,245,526 (GRCm39) |
I45K |
probably damaging |
Het |
| Lamp3 |
G |
T |
16: 19,474,172 (GRCm39) |
Q401K |
possibly damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,180 (GRCm39) |
H528Q |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,220,361 (GRCm39) |
D245E |
probably benign |
Het |
| Mmut |
T |
A |
17: 41,252,274 (GRCm39) |
I272N |
possibly damaging |
Het |
| Mnat1 |
T |
C |
12: 73,277,479 (GRCm39) |
|
probably benign |
Het |
| Mprip |
A |
C |
11: 59,652,016 (GRCm39) |
M1907L |
probably benign |
Het |
| Nfu1 |
C |
A |
6: 86,993,254 (GRCm39) |
H131Q |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,213,580 (GRCm39) |
S670R |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,039 (GRCm39) |
N111D |
probably benign |
Het |
| Or8k40 |
T |
C |
2: 86,585,025 (GRCm39) |
D19G |
probably benign |
Het |
| Pals2 |
C |
T |
6: 50,139,642 (GRCm39) |
P116L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,839,861 (GRCm39) |
V523E |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,786,777 (GRCm39) |
D631E |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,591,481 (GRCm39) |
|
probably null |
Het |
| Rnf13 |
A |
G |
3: 57,741,033 (GRCm39) |
N274S |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,560,381 (GRCm39) |
Y486F |
probably damaging |
Het |
| Sec14l3 |
A |
T |
11: 4,025,263 (GRCm39) |
H291L |
possibly damaging |
Het |
| Senp5 |
A |
G |
16: 31,802,593 (GRCm39) |
S532P |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,804,550 (GRCm39) |
|
probably null |
Het |
| Serpina1e |
T |
C |
12: 103,914,338 (GRCm39) |
I329V |
probably benign |
Het |
| Slc10a4-ps |
T |
A |
5: 72,743,763 (GRCm39) |
|
probably null |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,773 (GRCm39) |
|
unknown |
Het |
| Smc5 |
A |
G |
19: 23,209,247 (GRCm39) |
V639A |
probably benign |
Het |
| Speg |
T |
A |
1: 75,399,912 (GRCm39) |
V2453E |
probably damaging |
Het |
| Syt2 |
T |
A |
1: 134,671,842 (GRCm39) |
F207I |
probably damaging |
Het |
| Tchp |
C |
T |
5: 114,846,857 (GRCm39) |
S48L |
probably benign |
Het |
| Trim12a |
A |
G |
7: 103,953,383 (GRCm39) |
S243P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,628,561 (GRCm39) |
E14533G |
probably damaging |
Het |
| Vmn1r50 |
T |
A |
6: 90,084,819 (GRCm39) |
M188K |
probably benign |
Het |
| Vps11 |
G |
A |
9: 44,266,376 (GRCm39) |
T437I |
probably damaging |
Het |
| Xrn1 |
C |
T |
9: 95,929,843 (GRCm39) |
T1498I |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
Het |
| Zfp316 |
T |
C |
5: 143,249,110 (GRCm39) |
D175G |
unknown |
Het |
| Zmynd11 |
A |
G |
13: 9,744,366 (GRCm39) |
L256P |
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 |
|
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 |
|
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'- TTCATGGGGCTCTTACCAGAC -3'
(R):5'- ACGTTCATAGGTTCGGAAAGTAAAG -3'
Sequencing Primer
(F):5'- ATGGGGCTCTTACCAGACTTTTTC -3'
(R):5'- TCATAGGTTCGGAAAGTAAAGTTGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation