Incidental Mutation 'R7463:Dip2b'
| ID |
578586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
045537-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R7463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100038664-100219473 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100154157 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 213
(E213G)
|
| 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: E213G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: E213G
| 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: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,323,772 (GRCm38) |
V435E |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,252,531 (GRCm38) |
T8I |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,730,280 (GRCm38) |
D413G |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,434,396 (GRCm38) |
D727V |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,637,726 (GRCm38) |
Q309* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,569,884 (GRCm38) |
C43* |
probably null |
Het |
| Bpifc |
T |
C |
10: 85,979,334 (GRCm38) |
E256G |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,602,471 (GRCm38) |
S296T |
probably benign |
Het |
| Carmil3 |
C |
T |
14: 55,502,396 (GRCm38) |
P980L |
probably damaging |
Het |
| Coch |
T |
A |
12: 51,593,625 (GRCm38) |
M1K |
probably null |
Het |
| Cpt2 |
A |
T |
4: 107,908,157 (GRCm38) |
F137I |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,295,094 (GRCm38) |
I112V |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,520,476 (GRCm38) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,713,564 (GRCm38) |
I90F |
probably damaging |
Het |
| Cyp4f16 |
C |
T |
17: 32,550,787 (GRCm38) |
A457V |
possibly damaging |
Het |
| Ddx6 |
A |
G |
9: 44,628,729 (GRCm38) |
E318G |
probably damaging |
Het |
| Dlx5 |
T |
C |
6: 6,878,316 (GRCm38) |
H238R |
probably damaging |
Het |
| Dnaic2 |
A |
C |
11: 114,754,406 (GRCm38) |
I556L |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,912,225 (GRCm38) |
V1147M |
possibly damaging |
Het |
| Egf |
G |
T |
3: 129,740,015 (GRCm38) |
Q59K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,646,262 (GRCm38) |
Y109* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,573,601 (GRCm38) |
Y573* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,193,128 (GRCm38) |
L503P |
probably damaging |
Het |
| Gnptab |
T |
G |
10: 88,431,389 (GRCm38) |
I447M |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,578,450 (GRCm38) |
D253N |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,266,277 (GRCm38) |
|
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,710,645 (GRCm38) |
T958A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,498 (GRCm38) |
L67Q |
probably damaging |
Het |
| Kif5a |
A |
G |
10: 127,243,724 (GRCm38) |
V248A |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 100,029,563 (GRCm38) |
I88T |
probably damaging |
Het |
| Lhx2 |
G |
A |
2: 38,351,846 (GRCm38) |
E25K |
possibly damaging |
Het |
| Mex3d |
C |
T |
10: 80,381,698 (GRCm38) |
G562R |
|
Het |
| Myom2 |
A |
T |
8: 15,117,679 (GRCm38) |
Y1088F |
probably null |
Het |
| Ncapg |
T |
A |
5: 45,694,092 (GRCm38) |
|
probably null |
Het |
| Nudc |
A |
C |
4: 133,534,403 (GRCm38) |
V190G |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 59,122,860 (GRCm38) |
R1054S |
probably benign |
Het |
| Olfr1045 |
T |
C |
2: 86,197,838 (GRCm38) |
M305V |
probably benign |
Het |
| Olfr1510 |
A |
G |
14: 52,410,711 (GRCm38) |
W54R |
probably benign |
Het |
| Olfr651 |
T |
C |
7: 104,553,482 (GRCm38) |
S188P |
possibly damaging |
Het |
| Olfr683 |
T |
A |
7: 105,143,937 (GRCm38) |
M119L |
probably benign |
Het |
| Olfr710 |
A |
T |
7: 106,944,173 (GRCm38) |
V276E |
probably damaging |
Het |
| Olfr979 |
A |
G |
9: 40,000,564 (GRCm38) |
V221A |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,383,572 (GRCm38) |
R891S |
possibly damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,631,770 (GRCm38) |
S1873L |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,720,998 (GRCm38) |
K632E |
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,763,427 (GRCm38) |
A517T |
probably damaging |
Het |
| Ptgr2 |
A |
T |
12: 84,292,298 (GRCm38) |
|
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,473,364 (GRCm38) |
D417N |
possibly damaging |
Het |
| Racgap1 |
T |
A |
15: 99,642,958 (GRCm38) |
T4S |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,249,180 (GRCm38) |
H941R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,103,435 (GRCm38) |
H312R |
probably damaging |
Het |
| Rnf166 |
T |
A |
8: 122,467,987 (GRCm38) |
H208L |
probably damaging |
Het |
| Theg |
T |
C |
10: 79,576,715 (GRCm38) |
E314G |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,250,426 (GRCm38) |
S999P |
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,786,256 (GRCm38) |
R118L |
possibly damaging |
Het |
| Tor1aip1 |
A |
T |
1: 156,007,609 (GRCm38) |
H349Q |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,920,460 (GRCm38) |
E3415V |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,676,624 (GRCm38) |
N78Y |
probably damaging |
Het |
| Wdr11 |
A |
T |
7: 129,607,086 (GRCm38) |
D427V |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 30,113,437 (GRCm38) |
|
probably benign |
Het |
| Zfp516 |
T |
A |
18: 82,957,108 (GRCm38) |
M477K |
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 |
|
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 |
|
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'- TCGTGCACTCTGTAAACACG -3'
(R):5'- CTAGCATCTACCAATGGAGCTC -3'
Sequencing Primer
(F):5'- TCGTGCACTCTGTAAACACGTATAC -3'
(R):5'- TGGAGCTCCATACCATCAGCTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation