Incidental Mutation 'R4606:Dip2b'
| ID |
346044 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
041817-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R4606 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
100038664-100219473 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100215329 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1542
(V1542I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
[ENSMUST00000108971]
|
| AlphaFold |
Q3UH60 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023768
AA Change: V1308I
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: V1308I
| 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 |
possibly damaging
Transcript: ENSMUST00000100203
AA Change: V1542I
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: V1542I
| 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 |
possibly damaging
Transcript: ENSMUST00000108971
AA Change: V1308I
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: V1308I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
108 |
583 |
9.5e-26 |
PFAM |
|
Pfam:AMP-binding
|
759 |
1234 |
1.2e-52 |
PFAM |
|
low complexity region
|
1298 |
1310 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3520 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (69/72) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
T |
8: 79,210,745 |
W178R |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,932,610 |
|
probably null |
Het |
| Akr1b3 |
C |
A |
6: 34,306,664 |
|
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,687,323 |
F1199S |
unknown |
Het |
| Atp4b |
A |
G |
8: 13,389,998 |
F116S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,752,461 |
S127P |
probably damaging |
Het |
| Blk |
C |
T |
14: 63,374,203 |
V428I |
probably benign |
Het |
| C87414 |
A |
T |
5: 93,636,602 |
D137E |
probably damaging |
Het |
| Ccser1 |
T |
C |
6: 61,311,584 |
S244P |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,474,526 |
I235F |
probably damaging |
Het |
| Cyp2g1 |
T |
A |
7: 26,814,154 |
Y173N |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 170,001,852 |
I278F |
probably benign |
Het |
| Degs1 |
T |
C |
1: 182,276,823 |
D299G |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,962,181 |
S2942R |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,316,590 |
|
probably benign |
Het |
| Ephb6 |
A |
G |
6: 41,616,574 |
Y518C |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 72,373,916 |
F606I |
possibly damaging |
Het |
| Extl1 |
A |
C |
4: 134,371,380 |
D113E |
probably benign |
Het |
| Extl1 |
A |
G |
4: 134,371,379 |
S114P |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 44,950,683 |
V157A |
possibly damaging |
Het |
| Fcho1 |
A |
T |
8: 71,712,480 |
D444E |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,296,560 |
D71V |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,988,209 |
D316E |
possibly damaging |
Het |
| Gys2 |
A |
T |
6: 142,454,484 |
F334I |
possibly damaging |
Het |
| Ik |
G |
T |
18: 36,753,555 |
R360L |
possibly damaging |
Het |
| Kazn |
A |
C |
4: 142,118,288 |
|
probably null |
Het |
| Kmt2d |
A |
T |
15: 98,839,716 |
|
probably benign |
Het |
| Krr1 |
T |
C |
10: 111,975,677 |
|
probably benign |
Het |
| Krt83 |
C |
T |
15: 101,487,049 |
E389K |
probably benign |
Het |
| Lrrc4c |
T |
C |
2: 97,630,313 |
V428A |
probably benign |
Het |
| Lvrn |
C |
A |
18: 46,864,765 |
T260K |
possibly damaging |
Het |
| Mcc |
C |
T |
18: 44,468,421 |
E614K |
probably damaging |
Het |
| Msrb3 |
A |
T |
10: 120,849,997 |
V81D |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,934,383 |
|
noncoding transcript |
Het |
| Myadm |
T |
A |
7: 3,297,400 |
L226* |
probably null |
Het |
| Myof |
C |
T |
19: 37,967,099 |
V526M |
probably damaging |
Het |
| Nckap5l |
A |
G |
15: 99,429,323 |
|
probably benign |
Het |
| Olfr1010 |
T |
A |
2: 85,753,940 |
|
probably benign |
Het |
| Olfr1260 |
C |
A |
2: 89,978,006 |
A76D |
possibly damaging |
Het |
| Olfr1270 |
G |
T |
2: 90,148,816 |
|
probably benign |
Het |
| Olfr398 |
A |
G |
11: 73,983,892 |
S239P |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,654,050 |
V307A |
probably benign |
Het |
| Pcdhb1 |
T |
G |
18: 37,265,528 |
Y177* |
probably null |
Het |
| Pcdhb4 |
T |
A |
18: 37,308,652 |
D338E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 70,772,136 |
R199* |
probably null |
Het |
| Pla2g4f |
C |
T |
2: 120,313,986 |
R24Q |
probably benign |
Het |
| Pnma2 |
T |
C |
14: 66,916,232 |
I35T |
probably benign |
Het |
| Podn |
C |
A |
4: 108,017,867 |
A568S |
probably benign |
Het |
| Pou3f1 |
A |
T |
4: 124,658,836 |
E377V |
probably damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,485,192 |
D494G |
probably damaging |
Het |
| Ptpn9 |
A |
T |
9: 57,022,211 |
T71S |
possibly damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,487 |
P1192L |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,468,999 |
L57F |
probably damaging |
Het |
| Rnf217 |
T |
A |
10: 31,517,476 |
K370* |
probably null |
Het |
| Rpap2 |
G |
A |
5: 107,601,795 |
V62I |
possibly damaging |
Het |
| Scaper |
A |
T |
9: 55,655,903 |
|
probably null |
Het |
| Sos2 |
T |
C |
12: 69,614,606 |
|
probably benign |
Het |
| Sptbn5 |
C |
T |
2: 120,067,446 |
|
probably null |
Het |
| Sumo1 |
A |
G |
1: 59,644,509 |
|
probably benign |
Het |
| Syne2 |
C |
A |
12: 75,989,253 |
N3771K |
probably damaging |
Het |
| Tbx18 |
T |
C |
9: 87,730,769 |
I26V |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,978,624 |
M1140K |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,963,357 |
|
probably null |
Het |
| Wdr7 |
C |
T |
18: 63,779,945 |
Q946* |
probably null |
Het |
| Ythdf1 |
T |
C |
2: 180,912,182 |
D46G |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 170,119,750 |
N219S |
possibly damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,393,783 |
I256T |
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 |
|
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 |
|
|
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'- TGTCATTGGCATTTCAGTGC -3'
(R):5'- ACAGAAATCCCCTTTCCTGGG -3'
Sequencing Primer
(F):5'- CTGTGTTCACGTGGACCAAC -3'
(R):5'- GTTCTGTGACGTCAGAGTCCCAC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation