Incidental Mutation 'R9405:Dip2b'
| ID |
711496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dip2b
|
| Ensembl Gene |
ENSMUSG00000023026 |
| Gene Name |
disco interacting protein 2 homolog B |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.615)
|
| Stock # |
R9405 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99936545-100117354 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100093757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1123
(K1123R)
|
| 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: K889R
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: K889R
| 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: K1123R
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: K1123R
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
A |
9: 118,978,506 (GRCm39) |
Q277L |
probably damaging |
Het |
| Adamts18 |
A |
G |
8: 114,430,030 (GRCm39) |
V1135A |
probably damaging |
Het |
| Apobr |
A |
G |
7: 126,184,704 (GRCm39) |
S72G |
possibly damaging |
Het |
| Arl13b |
T |
A |
16: 62,632,260 (GRCm39) |
Q214L |
possibly damaging |
Het |
| Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
| Asah2 |
T |
G |
19: 31,986,045 (GRCm39) |
T542P |
possibly damaging |
Het |
| Asns |
C |
T |
6: 7,689,283 (GRCm39) |
C73Y |
probably damaging |
Het |
| Calhm2 |
T |
A |
19: 47,124,108 (GRCm39) |
T79S |
probably benign |
Het |
| Cd300c2 |
T |
G |
11: 114,891,587 (GRCm39) |
T96P |
probably damaging |
Het |
| Copb1 |
G |
A |
7: 113,822,458 (GRCm39) |
T757I |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,539,187 (GRCm39) |
T1517S |
|
Het |
| Ddx60 |
T |
A |
8: 62,425,248 (GRCm39) |
L679M |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,009,737 (GRCm39) |
S612P |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,272,306 (GRCm39) |
C1037S |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,694,137 (GRCm39) |
I244N |
possibly damaging |
Het |
| Epb41l4a |
C |
A |
18: 33,943,271 (GRCm39) |
|
probably null |
Het |
| Fam83b |
A |
G |
9: 76,398,703 (GRCm39) |
M800T |
possibly damaging |
Het |
| Fcf1 |
T |
G |
12: 85,021,013 (GRCm39) |
C98G |
probably benign |
Het |
| H2bc3 |
T |
C |
13: 23,931,141 (GRCm39) |
Y122H |
probably benign |
Het |
| Hltf |
G |
T |
3: 20,137,094 (GRCm39) |
Q417H |
possibly damaging |
Het |
| Hmg20b |
T |
C |
10: 81,185,258 (GRCm39) |
S35G |
probably benign |
Het |
| Igkv4-57-1 |
T |
G |
6: 69,521,525 (GRCm39) |
Y59S |
probably damaging |
Het |
| Irs2 |
C |
T |
8: 11,055,061 (GRCm39) |
V1124I |
possibly damaging |
Het |
| Kprp |
A |
G |
3: 92,731,560 (GRCm39) |
C497R |
unknown |
Het |
| Krt15 |
A |
T |
11: 100,022,961 (GRCm39) |
V418E |
probably benign |
Het |
| Lce1e |
G |
A |
3: 92,615,312 (GRCm39) |
P12S |
unknown |
Het |
| Lsmem1 |
T |
C |
12: 40,227,113 (GRCm39) |
D124G |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,642,036 (GRCm39) |
F85S |
probably damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,447 (GRCm39) |
V204E |
possibly damaging |
Het |
| Myo7b |
C |
T |
18: 32,109,356 (GRCm39) |
A1172T |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,349,424 (GRCm39) |
I2362N |
probably damaging |
Het |
| Nde1 |
T |
G |
16: 14,006,255 (GRCm39) |
L261R |
probably damaging |
Het |
| Neurl1b |
A |
G |
17: 26,658,265 (GRCm39) |
D401G |
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,839 (GRCm39) |
V303A |
probably damaging |
Het |
| Nlrc5 |
C |
T |
8: 95,199,652 (GRCm39) |
P88S |
probably damaging |
Het |
| Or10ad1b |
T |
A |
15: 98,124,912 (GRCm39) |
I207F |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,460 (GRCm39) |
I212K |
possibly damaging |
Het |
| Or6c203 |
T |
A |
10: 129,010,165 (GRCm39) |
M242L |
probably benign |
Het |
| Pde1c |
T |
A |
6: 56,049,199 (GRCm39) |
K705* |
probably null |
Het |
| Pear1 |
A |
T |
3: 87,659,890 (GRCm39) |
F699I |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Prickle1 |
A |
T |
15: 93,400,861 (GRCm39) |
L541* |
probably null |
Het |
| Prss39 |
G |
A |
1: 34,538,344 (GRCm39) |
G70S |
probably damaging |
Het |
| Prune2 |
T |
G |
19: 17,193,708 (GRCm39) |
N3065K |
probably damaging |
Het |
| Qrfprl |
T |
A |
6: 65,433,078 (GRCm39) |
N299K |
probably benign |
Het |
| Rdh5 |
A |
C |
10: 128,753,937 (GRCm39) |
D127E |
probably benign |
Het |
| Ryr3 |
G |
A |
2: 112,664,612 (GRCm39) |
H1580Y |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,637,994 (GRCm39) |
|
probably benign |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,129 (GRCm39) |
L139Q |
possibly damaging |
Het |
| Six1 |
A |
G |
12: 73,093,095 (GRCm39) |
S36P |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,950,416 (GRCm39) |
I281V |
probably benign |
Het |
| Snai2 |
T |
A |
16: 14,524,589 (GRCm39) |
Y32N |
probably benign |
Het |
| Stat2 |
T |
C |
10: 128,114,634 (GRCm39) |
S244P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,152,030 (GRCm39) |
I5759T |
probably damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,012,985 (GRCm39) |
N329S |
possibly damaging |
Het |
| Tex2 |
A |
T |
11: 106,435,214 (GRCm39) |
S737R |
unknown |
Het |
| Trav13d-3 |
G |
A |
14: 53,270,715 (GRCm39) |
R59H |
probably benign |
Het |
| Tspan9 |
C |
T |
6: 127,944,124 (GRCm39) |
A59T |
probably benign |
Het |
| Usp53 |
G |
A |
3: 122,746,918 (GRCm39) |
A349V |
probably damaging |
Het |
| Vmn1r188 |
T |
C |
13: 22,272,898 (GRCm39) |
L284P |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,215 (GRCm39) |
N374S |
probably damaging |
Het |
| Zfp622 |
A |
T |
15: 25,985,035 (GRCm39) |
I134F |
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 |
|
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 |
|
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'- TATACAACTCAGGATGGTGAGCAGG -3'
(R):5'- CACATTATGGGCTGGTTCTTGGAC -3'
Sequencing Primer
(F):5'- GAGCAGGCTCCTCTTAGCATCAC -3'
(R):5'- GGTAGTACACATTTGCTGGATATC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation