Incidental Mutation 'R5768:Dip2b'
ID |
446403 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dip2b
|
Ensembl Gene |
ENSMUSG00000023026 |
Gene Name |
disco interacting protein 2 homolog B |
Synonyms |
|
MMRRC Submission |
043368-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.615)
|
Stock # |
R5768 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99936545-100117354 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 100055826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 393
(P393T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023768]
[ENSMUST00000100203]
[ENSMUST00000108971]
|
AlphaFold |
Q3UH60 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023768
AA Change: P159T
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000023768 Gene: ENSMUSG00000023026 AA Change: P159T
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: P393T
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000097777 Gene: ENSMUSG00000023026 AA Change: P393T
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 |
probably benign
Transcript: ENSMUST00000108971
AA Change: P159T
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000104599 Gene: ENSMUSG00000023026 AA Change: P159T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230733
|
Meta Mutation Damage Score |
0.0900 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (59/60) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
G |
A |
5: 8,177,426 (GRCm39) |
T561I |
probably benign |
Het |
Akp3 |
T |
C |
1: 87,054,844 (GRCm39) |
I393T |
probably damaging |
Het |
Atxn10 |
A |
T |
15: 85,277,621 (GRCm39) |
I363F |
probably benign |
Het |
BC004004 |
A |
T |
17: 29,501,709 (GRCm39) |
S83C |
probably damaging |
Het |
Bin1 |
T |
A |
18: 32,559,264 (GRCm39) |
|
probably null |
Het |
Cacna1c |
A |
G |
6: 118,674,641 (GRCm39) |
I541T |
probably damaging |
Het |
Cand1 |
A |
G |
10: 119,046,910 (GRCm39) |
V860A |
probably benign |
Het |
Ccdc69 |
T |
C |
11: 54,945,856 (GRCm39) |
N50S |
possibly damaging |
Het |
Cd209d |
T |
A |
8: 3,921,968 (GRCm39) |
T235S |
probably benign |
Het |
Cdhr3 |
G |
T |
12: 33,096,685 (GRCm39) |
T591K |
possibly damaging |
Het |
Cherp |
C |
T |
8: 73,216,957 (GRCm39) |
D658N |
probably damaging |
Het |
Clip4 |
T |
A |
17: 72,113,494 (GRCm39) |
|
probably null |
Het |
Cryzl1 |
C |
T |
16: 91,492,242 (GRCm39) |
V195M |
probably damaging |
Het |
Cst11 |
A |
T |
2: 148,612,387 (GRCm39) |
Y83* |
probably null |
Het |
Ddb2 |
T |
C |
2: 91,042,337 (GRCm39) |
S419G |
possibly damaging |
Het |
Ddi2 |
A |
T |
4: 141,412,901 (GRCm39) |
L4M |
probably damaging |
Het |
Dnmt3a |
G |
A |
12: 3,935,660 (GRCm39) |
|
probably null |
Het |
Elf5 |
C |
T |
2: 103,279,367 (GRCm39) |
S196L |
probably damaging |
Het |
Eps15 |
C |
G |
4: 109,220,373 (GRCm39) |
|
probably null |
Het |
Fra10ac1 |
T |
C |
19: 38,195,734 (GRCm39) |
E163G |
probably benign |
Het |
Gc |
T |
C |
5: 89,589,125 (GRCm39) |
T213A |
probably damaging |
Het |
Grpel1 |
A |
T |
5: 36,622,503 (GRCm39) |
|
probably benign |
Het |
Gsdme |
G |
A |
6: 50,196,280 (GRCm39) |
Q377* |
probably null |
Het |
Hira |
T |
C |
16: 18,753,768 (GRCm39) |
|
probably benign |
Het |
Hsd11b1 |
T |
A |
1: 192,922,554 (GRCm39) |
I168F |
probably damaging |
Het |
Htr6 |
G |
A |
4: 138,789,015 (GRCm39) |
R347W |
probably damaging |
Het |
Ipp |
A |
C |
4: 116,367,967 (GRCm39) |
T67P |
probably damaging |
Het |
Lrfn5 |
G |
A |
12: 61,886,509 (GRCm39) |
R99Q |
probably benign |
Het |
Madd |
T |
A |
2: 90,998,174 (GRCm39) |
I649F |
probably damaging |
Het |
Map2k7 |
T |
A |
8: 4,295,757 (GRCm39) |
D368E |
probably benign |
Het |
Mppe1 |
T |
G |
18: 67,358,889 (GRCm39) |
T360P |
possibly damaging |
Het |
Msi2 |
A |
G |
11: 88,608,564 (GRCm39) |
F2L |
probably damaging |
Het |
Nectin3 |
T |
C |
16: 46,279,180 (GRCm39) |
Q266R |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,532,883 (GRCm39) |
H691R |
probably benign |
Het |
Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
Or4c117 |
T |
C |
2: 88,955,793 (GRCm39) |
E94G |
probably benign |
Het |
Or5ac15 |
TGAAGAAGAA |
TGAAGAA |
16: 58,940,335 (GRCm39) |
|
probably benign |
Het |
Papss2 |
G |
A |
19: 32,638,119 (GRCm39) |
|
probably null |
Het |
Pi4ka |
T |
C |
16: 17,172,736 (GRCm39) |
K549E |
probably benign |
Het |
Plekha6 |
A |
G |
1: 133,208,116 (GRCm39) |
T596A |
probably benign |
Het |
Polr2f |
A |
G |
15: 79,035,845 (GRCm39) |
D117G |
probably damaging |
Het |
Psd |
T |
C |
19: 46,301,178 (GRCm39) |
E381G |
possibly damaging |
Het |
Rfx6 |
G |
A |
10: 51,602,976 (GRCm39) |
R831H |
probably damaging |
Het |
Rpp25l |
A |
T |
4: 41,712,649 (GRCm39) |
L42Q |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,583,442 (GRCm39) |
M2810V |
probably benign |
Het |
Sdk1 |
C |
A |
5: 142,129,626 (GRCm39) |
L1616I |
probably benign |
Het |
Spock2 |
T |
A |
10: 59,962,029 (GRCm39) |
F215I |
probably damaging |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Tchh |
A |
T |
3: 93,353,488 (GRCm39) |
E976V |
unknown |
Het |
Tgfbr3 |
T |
C |
5: 107,297,761 (GRCm39) |
E213G |
probably benign |
Het |
Tmed1 |
T |
C |
9: 21,420,619 (GRCm39) |
D71G |
probably benign |
Het |
Tmtc4 |
T |
A |
14: 123,170,565 (GRCm39) |
K527N |
possibly damaging |
Het |
Zfhx2 |
T |
C |
14: 55,311,822 (GRCm39) |
T291A |
probably benign |
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 |
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'- TAACTCAGCACAGCCGGTTG -3'
(R):5'- ACTGCTGTTGGAACTCTGTC -3'
Sequencing Primer
(F):5'- TGTGACAGCGAGCCTTTCAG -3'
(R):5'- CGACCATTTGTAACTCAAGGTCAGG -3'
|
Posted On |
2016-11-21 |