Incidental Mutation 'R4696:Disp2'
| ID |
355675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp2
|
| Ensembl Gene |
ENSMUSG00000040035 |
| Gene Name |
dispatched RND transporter family member 2 |
| Synonyms |
B230210L08Rik, DispB |
| MMRRC Submission |
041946-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
R4696 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 118622165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 966
(E966*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037547]
[ENSMUST00000063975]
[ENSMUST00000110843]
[ENSMUST00000110846]
|
| AlphaFold |
Q8CIP5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037547
AA Change: E966*
|
| SMART Domains |
Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: E966*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
Pfam:MMPL
|
435 |
635 |
9.7e-8 |
PFAM |
|
Pfam:Sterol-sensing
|
458 |
611 |
9.1e-9 |
PFAM |
|
transmembrane domain
|
657 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
761 |
N/A |
INTRINSIC |
|
transmembrane domain
|
914 |
936 |
N/A |
INTRINSIC |
|
transmembrane domain
|
943 |
965 |
N/A |
INTRINSIC |
|
transmembrane domain
|
975 |
997 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1018 |
1040 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063975
|
| SMART Domains |
Protein: ENSMUSP00000070031
Gene: ENSMUSG00000040035
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110843
|
| SMART Domains |
Protein: ENSMUSP00000106467
Gene: ENSMUSG00000040035
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110846
|
| SMART Domains |
Protein: ENSMUSP00000106470
Gene: ENSMUSG00000040035
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
123 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142072
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
99% (74/75) |
| MGI Phenotype |
FUNCTION: The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,241,817 (GRCm39) |
S1405G |
probably benign |
Het |
| Acaca |
T |
C |
11: 84,171,261 (GRCm39) |
V1165A |
possibly damaging |
Het |
| Acin1 |
C |
A |
14: 54,880,474 (GRCm39) |
|
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,340,312 (GRCm39) |
V159I |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,597,504 (GRCm39) |
Y777H |
probably damaging |
Het |
| Cblc |
C |
A |
7: 19,530,407 (GRCm39) |
G101C |
probably damaging |
Het |
| Cdc42ep5 |
G |
A |
7: 4,154,614 (GRCm39) |
P58L |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,987,908 (GRCm39) |
N1532S |
probably benign |
Het |
| Cipc |
T |
A |
12: 86,999,714 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,617,146 (GRCm39) |
I835V |
probably benign |
Het |
| Cntrob |
C |
T |
11: 69,211,714 (GRCm39) |
G170D |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,235,998 (GRCm39) |
Q304R |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,777,364 (GRCm39) |
T1181A |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,413,834 (GRCm39) |
F994L |
probably damaging |
Het |
| Ddx42 |
C |
A |
11: 106,138,529 (GRCm39) |
A776D |
probably benign |
Het |
| Dmpk |
A |
T |
7: 18,822,139 (GRCm39) |
N366Y |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,580,674 (GRCm39) |
Y362C |
possibly damaging |
Het |
| Dock10 |
C |
T |
1: 80,493,330 (GRCm39) |
G1880D |
possibly damaging |
Het |
| Dzip1l |
A |
G |
9: 99,545,664 (GRCm39) |
R638G |
possibly damaging |
Het |
| Dzip3 |
T |
A |
16: 48,746,332 (GRCm39) |
|
probably benign |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Eno4 |
T |
C |
19: 58,934,068 (GRCm39) |
S90P |
probably damaging |
Het |
| Epn2 |
C |
G |
11: 61,426,129 (GRCm39) |
A283P |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,397,543 (GRCm39) |
Y67* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,175,841 (GRCm39) |
N1624S |
probably benign |
Het |
| Fez1 |
T |
A |
9: 36,781,766 (GRCm39) |
|
probably null |
Het |
| Fgfr1 |
T |
C |
8: 26,053,504 (GRCm39) |
S260P |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,293,220 (GRCm39) |
S532G |
probably benign |
Het |
| Gm15455 |
A |
T |
1: 33,876,874 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
A |
G |
5: 143,377,131 (GRCm39) |
|
probably benign |
Het |
| Guca2b |
C |
A |
4: 119,513,996 (GRCm39) |
G129V |
probably damaging |
Het |
| Hes3 |
T |
C |
4: 152,372,124 (GRCm39) |
E65G |
probably damaging |
Het |
| Itgbl1 |
T |
C |
14: 124,204,120 (GRCm39) |
C404R |
probably damaging |
Het |
| Kansl1 |
C |
T |
11: 104,247,593 (GRCm39) |
V586I |
possibly damaging |
Het |
| Krt18 |
A |
G |
15: 101,940,293 (GRCm39) |
D390G |
probably benign |
Het |
| Laptm5 |
T |
C |
4: 130,660,982 (GRCm39) |
|
probably benign |
Het |
| Lgals3bp |
C |
T |
11: 118,288,977 (GRCm39) |
E116K |
probably benign |
Het |
| Lrrc39 |
C |
T |
3: 116,363,769 (GRCm39) |
S114F |
probably damaging |
Het |
| Mfap3 |
T |
C |
11: 57,419,117 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,899,931 (GRCm39) |
H481R |
probably benign |
Het |
| Ntm |
T |
C |
9: 29,090,501 (GRCm39) |
T73A |
possibly damaging |
Het |
| Or5m13b |
T |
A |
2: 85,749,215 (GRCm39) |
|
probably null |
Het |
| Or8g4 |
T |
A |
9: 39,662,024 (GRCm39) |
M114K |
probably damaging |
Het |
| Pbk |
G |
A |
14: 66,049,386 (GRCm39) |
C21Y |
probably benign |
Het |
| Pglyrp1 |
A |
G |
7: 18,618,871 (GRCm39) |
E74G |
probably benign |
Het |
| R3hdm1 |
G |
T |
1: 128,164,503 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,633,375 (GRCm39) |
T599A |
probably damaging |
Het |
| Rigi |
A |
G |
4: 40,203,798 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
A |
T |
1: 22,358,836 (GRCm39) |
M1273K |
probably damaging |
Het |
| Sbf1 |
G |
A |
15: 89,187,315 (GRCm39) |
R721* |
probably null |
Het |
| Slc17a1 |
T |
C |
13: 24,064,700 (GRCm39) |
I388T |
probably damaging |
Het |
| Sprn |
A |
C |
7: 139,733,469 (GRCm39) |
|
probably benign |
Het |
| Tango6 |
T |
C |
8: 107,426,863 (GRCm39) |
V459A |
possibly damaging |
Het |
| Tert |
C |
T |
13: 73,775,939 (GRCm39) |
T230I |
probably benign |
Het |
| Thada |
T |
C |
17: 84,733,614 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,302,743 (GRCm39) |
R76Q |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,851,549 (GRCm39) |
N838K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,597,997 (GRCm39) |
W19639R |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,135,983 (GRCm39) |
S924T |
probably benign |
Het |
| Upb1 |
A |
G |
10: 75,250,861 (GRCm39) |
E110G |
probably benign |
Het |
| Vegfa |
C |
T |
17: 46,339,272 (GRCm39) |
|
probably null |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,901 (GRCm39) |
K5E |
possibly damaging |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,168 (GRCm39) |
I130F |
probably benign |
Het |
| Wscd2 |
T |
A |
5: 113,689,240 (GRCm39) |
V82E |
probably benign |
Het |
| Zfp462 |
A |
G |
4: 55,008,612 (GRCm39) |
T193A |
probably benign |
Het |
| Zfp467 |
A |
G |
6: 48,416,291 (GRCm39) |
|
probably benign |
Het |
| Zfp619 |
T |
C |
7: 39,186,412 (GRCm39) |
L814P |
probably benign |
Het |
|
| Other mutations in Disp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Disp2
|
APN |
2 |
118,616,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00970:Disp2
|
APN |
2 |
118,622,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01790:Disp2
|
APN |
2 |
118,621,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Disp2
|
APN |
2 |
118,617,745 (GRCm39) |
splice site |
probably benign |
|
|
IGL02069:Disp2
|
APN |
2 |
118,621,161 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02140:Disp2
|
APN |
2 |
118,621,350 (GRCm39) |
missense |
probably benign |
|
|
IGL02143:Disp2
|
APN |
2 |
118,620,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02155:Disp2
|
APN |
2 |
118,622,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Disp2
|
APN |
2 |
118,618,032 (GRCm39) |
splice site |
probably benign |
|
|
IGL03113:Disp2
|
APN |
2 |
118,621,259 (GRCm39) |
splice site |
probably null |
|
|
IGL03194:Disp2
|
APN |
2 |
118,618,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Disp2
|
UTSW |
2 |
118,618,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0109:Disp2
|
UTSW |
2 |
118,622,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Disp2
|
UTSW |
2 |
118,620,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0603:Disp2
|
UTSW |
2 |
118,622,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Disp2
|
UTSW |
2 |
118,622,717 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0639:Disp2
|
UTSW |
2 |
118,621,325 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0673:Disp2
|
UTSW |
2 |
118,621,325 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0755:Disp2
|
UTSW |
2 |
118,620,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0781:Disp2
|
UTSW |
2 |
118,620,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Disp2
|
UTSW |
2 |
118,620,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Disp2
|
UTSW |
2 |
118,636,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1148:Disp2
|
UTSW |
2 |
118,636,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1243:Disp2
|
UTSW |
2 |
118,622,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Disp2
|
UTSW |
2 |
118,622,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Disp2
|
UTSW |
2 |
118,622,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Disp2
|
UTSW |
2 |
118,621,778 (GRCm39) |
nonsense |
probably null |
|
|
R1781:Disp2
|
UTSW |
2 |
118,623,042 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1918:Disp2
|
UTSW |
2 |
118,622,408 (GRCm39) |
missense |
probably benign |
|
|
R1956:Disp2
|
UTSW |
2 |
118,622,704 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2167:Disp2
|
UTSW |
2 |
118,622,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Disp2
|
UTSW |
2 |
118,622,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4031:Disp2
|
UTSW |
2 |
118,622,361 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4617:Disp2
|
UTSW |
2 |
118,620,643 (GRCm39) |
missense |
probably benign |
|
|
R4656:Disp2
|
UTSW |
2 |
118,621,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Disp2
|
UTSW |
2 |
118,623,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Disp2
|
UTSW |
2 |
118,622,165 (GRCm39) |
nonsense |
probably null |
|
|
R4738:Disp2
|
UTSW |
2 |
118,620,807 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4834:Disp2
|
UTSW |
2 |
118,622,985 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4914:Disp2
|
UTSW |
2 |
118,620,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4915:Disp2
|
UTSW |
2 |
118,620,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4918:Disp2
|
UTSW |
2 |
118,620,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5045:Disp2
|
UTSW |
2 |
118,622,543 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5208:Disp2
|
UTSW |
2 |
118,622,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5303:Disp2
|
UTSW |
2 |
118,641,329 (GRCm39) |
unclassified |
probably benign |
|
|
R5350:Disp2
|
UTSW |
2 |
118,618,056 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5355:Disp2
|
UTSW |
2 |
118,617,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6011:Disp2
|
UTSW |
2 |
118,621,301 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6031:Disp2
|
UTSW |
2 |
118,620,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6031:Disp2
|
UTSW |
2 |
118,620,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6139:Disp2
|
UTSW |
2 |
118,621,143 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6169:Disp2
|
UTSW |
2 |
118,622,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Disp2
|
UTSW |
2 |
118,622,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6209:Disp2
|
UTSW |
2 |
118,617,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6250:Disp2
|
UTSW |
2 |
118,621,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6392:Disp2
|
UTSW |
2 |
118,621,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Disp2
|
UTSW |
2 |
118,617,361 (GRCm39) |
missense |
probably benign |
|
|
R7156:Disp2
|
UTSW |
2 |
118,622,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Disp2
|
UTSW |
2 |
118,622,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7400:Disp2
|
UTSW |
2 |
118,622,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Disp2
|
UTSW |
2 |
118,620,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Disp2
|
UTSW |
2 |
118,621,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Disp2
|
UTSW |
2 |
118,621,599 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7728:Disp2
|
UTSW |
2 |
118,621,961 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7757:Disp2
|
UTSW |
2 |
118,621,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Disp2
|
UTSW |
2 |
118,622,360 (GRCm39) |
missense |
probably benign |
|
|
R7945:Disp2
|
UTSW |
2 |
118,623,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Disp2
|
UTSW |
2 |
118,620,163 (GRCm39) |
nonsense |
probably null |
|
|
R8085:Disp2
|
UTSW |
2 |
118,617,452 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8179:Disp2
|
UTSW |
2 |
118,623,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8288:Disp2
|
UTSW |
2 |
118,620,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Disp2
|
UTSW |
2 |
118,641,284 (GRCm39) |
missense |
unknown |
|
|
R8385:Disp2
|
UTSW |
2 |
118,620,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8700:Disp2
|
UTSW |
2 |
118,620,340 (GRCm39) |
nonsense |
probably null |
|
|
R8808:Disp2
|
UTSW |
2 |
118,620,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Disp2
|
UTSW |
2 |
118,621,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Disp2
|
UTSW |
2 |
118,617,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Disp2
|
UTSW |
2 |
118,621,179 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9181:Disp2
|
UTSW |
2 |
118,617,393 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9660:Disp2
|
UTSW |
2 |
118,620,627 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Disp2
|
UTSW |
2 |
118,621,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Disp2
|
UTSW |
2 |
118,620,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTCACCAGCAACTTGGAG -3'
(R):5'- GCAGCATGATCACACCAGAG -3'
Sequencing Primer
(F):5'- CCAGCAACTTGGAGCTGTACAG -3'
(R):5'- AACAACACTCCAGTCGTCATCG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation