Incidental Mutation 'R0109:Disp2'
| ID |
17759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp2
|
| Ensembl Gene |
ENSMUSG00000040035 |
| Gene Name |
dispatched RND transporter family member 2 |
| Synonyms |
B230210L08Rik, DispB |
| MMRRC Submission |
038395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
R0109 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
118610183-118625656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118622297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1010
(S1010P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037547]
[ENSMUST00000063975]
[ENSMUST00000110843]
[ENSMUST00000110846]
|
| AlphaFold |
Q8CIP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037547
AA Change: S1010P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: S1010P
| 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 |
0.5390 |
| Coding Region Coverage |
- 1x: 90.6%
- 3x: 88.5%
- 10x: 83.8%
- 20x: 77.5%
|
| Validation Efficiency |
90% (95/106) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,262 (GRCm39) |
H710Q |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,917,985 (GRCm39) |
K1496* |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,476,613 (GRCm39) |
R1335L |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,305,605 (GRCm39) |
S203T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,491,674 (GRCm39) |
T41I |
possibly damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,743,949 (GRCm39) |
Y1184N |
possibly damaging |
Het |
| Avil |
A |
G |
10: 126,849,513 (GRCm39) |
N603S |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,421,916 (GRCm39) |
D149G |
possibly damaging |
Het |
| Car14 |
C |
A |
3: 95,806,763 (GRCm39) |
A234S |
probably benign |
Het |
| Cep164 |
A |
C |
9: 45,682,885 (GRCm39) |
L935R |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,268,577 (GRCm39) |
V1435A |
possibly damaging |
Het |
| Csmd2 |
T |
G |
4: 128,438,536 (GRCm39) |
S3038R |
probably benign |
Het |
| Cyp2j6 |
A |
T |
4: 96,406,394 (GRCm39) |
I459N |
probably damaging |
Het |
| Cyth1 |
T |
C |
11: 118,073,132 (GRCm39) |
E242G |
probably damaging |
Het |
| Dclk3 |
T |
G |
9: 111,296,738 (GRCm39) |
L94R |
possibly damaging |
Het |
| Dlec1 |
G |
A |
9: 118,934,892 (GRCm39) |
R145H |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,673,191 (GRCm39) |
V954A |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,111,487 (GRCm39) |
D309V |
probably damaging |
Het |
| Fam13b |
A |
G |
18: 34,584,361 (GRCm39) |
I601T |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,216 (GRCm39) |
M325K |
possibly damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,279,340 (GRCm39) |
E688D |
probably benign |
Het |
| Gabrb1 |
C |
T |
5: 72,279,289 (GRCm39) |
|
probably benign |
Het |
| Gm6590 |
A |
T |
6: 130,461,869 (GRCm39) |
|
noncoding transcript |
Het |
| Gse1 |
T |
A |
8: 121,294,524 (GRCm39) |
S284T |
probably damaging |
Het |
| Ipo13 |
C |
T |
4: 117,762,213 (GRCm39) |
R387Q |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,392,204 (GRCm39) |
E264G |
probably benign |
Het |
| Krt73 |
A |
T |
15: 101,704,830 (GRCm39) |
L352* |
probably null |
Het |
| Mapk15 |
A |
T |
15: 75,867,926 (GRCm39) |
K153* |
probably null |
Het |
| Mcemp1 |
C |
A |
8: 3,717,055 (GRCm39) |
Y65* |
probably null |
Het |
| Mcoln2 |
C |
G |
3: 145,881,473 (GRCm39) |
R210G |
probably damaging |
Het |
| Miox |
G |
A |
15: 89,219,784 (GRCm39) |
V91I |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,453,594 (GRCm39) |
E6G |
possibly damaging |
Het |
| Ncapg |
A |
G |
5: 45,851,090 (GRCm39) |
|
probably null |
Het |
| Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,147 (GRCm39) |
F111L |
probably benign |
Het |
| Or52d1 |
T |
C |
7: 103,755,812 (GRCm39) |
S109P |
probably damaging |
Het |
| Or5b94 |
C |
A |
19: 12,652,224 (GRCm39) |
F218L |
probably benign |
Het |
| Osbp2 |
A |
C |
11: 3,661,791 (GRCm39) |
S754A |
probably benign |
Het |
| Pard3 |
C |
T |
8: 128,125,147 (GRCm39) |
R712C |
probably damaging |
Het |
| Parp9 |
T |
C |
16: 35,768,711 (GRCm39) |
I64T |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,710,974 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Pcnt |
G |
A |
10: 76,225,030 (GRCm39) |
P1825S |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,827,957 (GRCm39) |
V43A |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,533,984 (GRCm39) |
V643E |
probably damaging |
Het |
| Pip5k1a |
T |
C |
3: 94,972,753 (GRCm39) |
T433A |
probably benign |
Het |
| Pip5k1b |
T |
A |
19: 24,356,411 (GRCm39) |
M176L |
probably benign |
Het |
| Polg2 |
T |
C |
11: 106,667,958 (GRCm39) |
|
probably benign |
Het |
| Pomp |
T |
A |
5: 147,812,323 (GRCm39) |
H136Q |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,251,955 (GRCm39) |
|
probably null |
Het |
| Prdx2 |
G |
A |
8: 85,696,880 (GRCm39) |
G4S |
probably benign |
Het |
| Rbm28 |
C |
T |
6: 29,160,104 (GRCm39) |
G70D |
probably benign |
Het |
| Rdh10 |
T |
A |
1: 16,176,489 (GRCm39) |
I83N |
probably damaging |
Het |
| Rin3 |
A |
G |
12: 102,279,340 (GRCm39) |
I50V |
possibly damaging |
Het |
| Rnf122 |
T |
C |
8: 31,614,877 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,810,775 (GRCm39) |
M447T |
possibly damaging |
Het |
| Sla2 |
A |
G |
2: 156,725,507 (GRCm39) |
|
probably null |
Het |
| Slc51a |
T |
A |
16: 32,296,425 (GRCm39) |
I192L |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,367,329 (GRCm39) |
|
probably benign |
Het |
| Spata16 |
T |
A |
3: 26,967,416 (GRCm39) |
F389I |
probably damaging |
Het |
| Srebf1 |
G |
A |
11: 60,092,630 (GRCm39) |
A793V |
probably benign |
Het |
| Tbc1d9b |
T |
C |
11: 50,049,261 (GRCm39) |
V736A |
probably benign |
Het |
| Tbx15 |
C |
A |
3: 99,259,182 (GRCm39) |
T351N |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,089,373 (GRCm39) |
|
probably null |
Het |
| Tmed11 |
T |
A |
5: 108,925,278 (GRCm39) |
D178V |
probably damaging |
Het |
| Traf7 |
A |
G |
17: 24,732,900 (GRCm39) |
F110L |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,799,399 (GRCm39) |
V33M |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,826,192 (GRCm39) |
|
probably null |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,217 (GRCm39) |
Y278C |
probably damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,954,044 (GRCm39) |
F298L |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,572,265 (GRCm39) |
T961A |
probably benign |
Het |
| Wdr48 |
G |
A |
9: 119,747,634 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
G |
A |
4: 19,641,725 (GRCm39) |
|
probably benign |
Het |
| Zfp1001 |
A |
T |
2: 150,165,761 (GRCm39) |
|
probably benign |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp839 |
G |
A |
12: 110,827,308 (GRCm39) |
E400K |
possibly damaging |
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 |
|
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 |
|
R4696:Disp2
|
UTSW |
2 |
118,622,165 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2013-01-31 |
Incidental Mutation