Incidental Mutation 'R7876:Dip2b'
| ID |
608457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
045928-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R7876 (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 100191041 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1031
(I1031V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
|
| AlphaFold |
Q3UH60 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023768
AA Change: I797V
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: I797V
| 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: I1031V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: I1031V
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (56/56) |
| 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 |
|---|
| Acvr2a |
A |
G |
2: 48,870,427 (GRCm38) |
K65R |
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,223,509 (GRCm38) |
D1083G |
probably benign |
Het |
| Aox1 |
C |
T |
1: 58,062,171 (GRCm38) |
Q434* |
probably null |
Het |
| Atp13a5 |
T |
A |
16: 29,321,748 (GRCm38) |
N330I |
possibly damaging |
Het |
| Brd8 |
A |
G |
18: 34,606,687 (GRCm38) |
F678L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,517,725 (GRCm38) |
E316K |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,446,429 (GRCm38) |
|
probably null |
Het |
| Cacna1h |
A |
T |
17: 25,375,251 (GRCm38) |
I2311K |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,273,343 (GRCm38) |
S237R |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,363,307 (GRCm38) |
T187A |
probably benign |
Het |
| Efna5 |
T |
C |
17: 62,650,934 (GRCm38) |
N109S |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,311,220 (GRCm38) |
S343T |
probably benign |
Het |
| Fubp1 |
T |
C |
3: 152,232,291 (GRCm38) |
Y654H |
unknown |
Het |
| Gbe1 |
G |
A |
16: 70,441,171 (GRCm38) |
V282I |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,923,233 (GRCm38) |
K719E |
|
Het |
| Grm6 |
A |
T |
11: 50,859,630 (GRCm38) |
Y540F |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,744,971 (GRCm38) |
V1163I |
probably benign |
Het |
| Igkv4-53 |
T |
A |
6: 69,649,003 (GRCm38) |
Q60L |
possibly damaging |
Het |
| Igkv4-59 |
A |
T |
6: 69,438,353 (GRCm38) |
S73T |
probably damaging |
Het |
| Il1a |
A |
C |
2: 129,300,842 (GRCm38) |
W228G |
probably damaging |
Het |
| Klk13 |
A |
G |
7: 43,720,979 (GRCm38) |
D22G |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,775,787 (GRCm38) |
C602S |
probably damaging |
Het |
| Kras |
T |
C |
6: 145,225,122 (GRCm38) |
K176E |
probably benign |
Het |
| Krtap5-4 |
G |
A |
7: 142,303,848 (GRCm38) |
C85Y |
unknown |
Het |
| Map3k13 |
A |
G |
16: 21,922,319 (GRCm38) |
T799A |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 35,589,543 (GRCm38) |
Y391H |
probably damaging |
Het |
| Morf4l1 |
G |
A |
9: 90,093,806 (GRCm38) |
A311V |
possibly damaging |
Het |
| Ms4a8a |
T |
A |
19: 11,079,484 (GRCm38) |
Q78L |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,809,303 (GRCm38) |
G2117A |
unknown |
Het |
| Nav3 |
T |
C |
10: 109,853,498 (GRCm38) |
N306S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 27,045,223 (GRCm38) |
|
probably null |
Het |
| Nrg2 |
T |
A |
18: 36,197,087 (GRCm38) |
Y25F |
unknown |
Het |
| Nup153 |
C |
T |
13: 46,681,608 (GRCm38) |
S1407N |
probably benign |
Het |
| Olfr1185-ps1 |
A |
G |
2: 88,499,655 (GRCm38) |
Y190C |
probably damaging |
Het |
| Olfr1487 |
A |
G |
19: 13,619,264 (GRCm38) |
Y34C |
probably damaging |
Het |
| Olfr15 |
T |
A |
16: 3,838,794 (GRCm38) |
|
probably null |
Het |
| Pcf11 |
A |
C |
7: 92,661,326 (GRCm38) |
S485A |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 81,324,071 (GRCm38) |
D592G |
probably damaging |
Het |
| Perm1 |
G |
A |
4: 156,217,589 (GRCm38) |
G197R |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,020,671 (GRCm38) |
M757K |
probably benign |
Het |
| Pls1 |
G |
A |
9: 95,785,505 (GRCm38) |
Q117* |
probably null |
Het |
| Plscr2 |
T |
C |
9: 92,287,728 (GRCm38) |
V77A |
probably benign |
Het |
| Polm |
T |
C |
11: 5,831,695 (GRCm38) |
E267G |
probably benign |
Het |
| Pomgnt1 |
A |
T |
4: 116,157,909 (GRCm38) |
K519M |
probably damaging |
Het |
| Ralyl |
G |
A |
3: 14,039,790 (GRCm38) |
|
probably null |
Het |
| Rhbdd3 |
C |
T |
11: 5,105,832 (GRCm38) |
T338I |
possibly damaging |
Het |
| Rnf31 |
T |
C |
14: 55,593,077 (GRCm38) |
|
probably null |
Het |
| Slc51a |
A |
T |
16: 32,478,783 (GRCm38) |
S99T |
probably benign |
Het |
| Sorbs1 |
A |
T |
19: 40,296,588 (GRCm38) |
L700H |
probably damaging |
Het |
| Tdrd7 |
G |
A |
4: 46,025,684 (GRCm38) |
V835I |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,578,535 (GRCm38) |
V64A |
probably benign |
Het |
| Tmprss5 |
A |
G |
9: 49,109,091 (GRCm38) |
S140G |
probably benign |
Het |
| Tspan11 |
G |
T |
6: 127,923,666 (GRCm38) |
V67F |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,721,671 (GRCm38) |
T252A |
probably damaging |
Het |
| Vmn2r97 |
A |
T |
17: 18,929,064 (GRCm38) |
E238V |
probably damaging |
Het |
| Wdpcp |
T |
A |
11: 21,711,486 (GRCm38) |
W253R |
probably benign |
Het |
| Zdhhc23 |
A |
T |
16: 43,969,300 (GRCm38) |
V375E |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,220,866 (GRCm38) |
H726P |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 127,047,703 (GRCm38) |
M964K |
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 |
|
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 |
|
R7463:Dip2b
|
UTSW |
15 |
100,154,157 (GRCm38) |
missense |
probably benign |
|
|
R7513:Dip2b
|
UTSW |
15 |
100,207,748 (GRCm38) |
splice site |
probably null |
|
|
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'- GCCGATAATTCAGCCAGAAGC -3'
(R):5'- TGCTTGACTCAGGGTACAGC -3'
Sequencing Primer
(F):5'- AGCCAAGCCTGTTGAGTG -3'
(R):5'- CACGTTTGGTGTAGGAACATGCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation