Incidental Mutation 'BB006:Disp1'
ID |
642337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Disp1
|
Ensembl Gene |
ENSMUSG00000030768 |
Gene Name |
dispatched RND transporter family member 1 |
Synonyms |
DispA, 1190008H24Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.929)
|
Stock # |
BB006
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
182867830-183003086 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 182917103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 108
(S108P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003035
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003035]
[ENSMUST00000171366]
[ENSMUST00000194033]
[ENSMUST00000195372]
|
AlphaFold |
Q3TDN0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003035
AA Change: S108P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000003035 Gene: ENSMUSG00000030768 AA Change: S108P
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
35 |
N/A |
INTRINSIC |
low complexity region
|
71 |
89 |
N/A |
INTRINSIC |
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
Pfam:Patched
|
279 |
765 |
6.8e-20 |
PFAM |
Pfam:MMPL
|
496 |
691 |
6.6e-13 |
PFAM |
Pfam:Sterol-sensing
|
518 |
670 |
1.7e-15 |
PFAM |
Pfam:Patched
|
916 |
1130 |
8e-11 |
PFAM |
Pfam:MMPL
|
937 |
1144 |
3.9e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171366
AA Change: S108P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126742 Gene: ENSMUSG00000030768 AA Change: S108P
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
35 |
N/A |
INTRINSIC |
low complexity region
|
71 |
89 |
N/A |
INTRINSIC |
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
Pfam:Patched
|
272 |
766 |
2.6e-20 |
PFAM |
Pfam:MMPL
|
496 |
691 |
6.6e-13 |
PFAM |
Pfam:Sterol-sensing
|
516 |
671 |
2.2e-15 |
PFAM |
Pfam:Patched
|
921 |
1130 |
8.7e-11 |
PFAM |
Pfam:MMPL
|
937 |
1144 |
3.9e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194033
AA Change: S108P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141664 Gene: ENSMUSG00000030768 AA Change: S108P
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
35 |
N/A |
INTRINSIC |
low complexity region
|
71 |
89 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195372
AA Change: S108P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141747 Gene: ENSMUSG00000030768 AA Change: S108P
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
35 |
N/A |
INTRINSIC |
low complexity region
|
71 |
89 |
N/A |
INTRINSIC |
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
Pfam:Patched
|
272 |
766 |
2.6e-20 |
PFAM |
Pfam:MMPL
|
496 |
691 |
6.6e-13 |
PFAM |
Pfam:Sterol-sensing
|
516 |
671 |
2.2e-15 |
PFAM |
Pfam:Patched
|
921 |
1130 |
8.7e-11 |
PFAM |
Pfam:MMPL
|
937 |
1144 |
3.9e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for targeted and chemically induced mutations exhibit a dorsalized neural tube, impaired heart looping, pericardial edema, large forelimbs, and abnormal head shape. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410137M14Rik |
T |
A |
17: 37,289,412 (GRCm39) |
I105F |
possibly damaging |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Adra1d |
G |
T |
2: 131,403,600 (GRCm39) |
C163* |
probably null |
Het |
Ak9 |
A |
G |
10: 41,259,944 (GRCm39) |
D874G |
|
Het |
Akap8 |
A |
T |
17: 32,528,419 (GRCm39) |
S498T |
probably damaging |
Het |
Alyref2 |
C |
G |
1: 171,331,407 (GRCm39) |
F61L |
probably benign |
Het |
Ank1 |
A |
T |
8: 23,606,123 (GRCm39) |
I1172F |
probably damaging |
Het |
Ankrd50 |
A |
T |
3: 38,511,258 (GRCm39) |
F370I |
probably damaging |
Het |
Apip |
A |
C |
2: 102,913,366 (GRCm39) |
T41P |
probably benign |
Het |
Atg4d |
G |
A |
9: 21,178,260 (GRCm39) |
R126Q |
probably null |
Het |
Ccdc86 |
A |
G |
19: 10,926,183 (GRCm39) |
S139P |
unknown |
Het |
Ceacam16 |
A |
G |
7: 19,587,556 (GRCm39) |
L404P |
probably damaging |
Het |
Dennd3 |
G |
T |
15: 73,436,423 (GRCm39) |
V1010L |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,869,554 (GRCm39) |
C238R |
probably damaging |
Het |
Ephb2 |
A |
G |
4: 136,388,195 (GRCm39) |
V635A |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gars1 |
A |
G |
6: 55,040,102 (GRCm39) |
H343R |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,769,772 (GRCm39) |
N593K |
possibly damaging |
Het |
Il18rap |
T |
A |
1: 40,570,740 (GRCm39) |
N227K |
probably damaging |
Het |
Il4ra |
T |
C |
7: 125,174,348 (GRCm39) |
S297P |
probably benign |
Het |
Itprid1 |
G |
A |
6: 55,874,946 (GRCm39) |
V299M |
probably damaging |
Het |
Jak1 |
A |
T |
4: 101,011,842 (GRCm39) |
F1087I |
probably damaging |
Het |
Klf16 |
A |
G |
10: 80,412,698 (GRCm39) |
S113P |
probably benign |
Het |
Klhl30 |
A |
T |
1: 91,283,238 (GRCm39) |
E280V |
possibly damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lama4 |
A |
G |
10: 38,954,843 (GRCm39) |
H1132R |
probably damaging |
Het |
Lmtk3 |
A |
G |
7: 45,444,572 (GRCm39) |
D1085G |
unknown |
Het |
Lrrc9 |
C |
A |
12: 72,533,071 (GRCm39) |
T980K |
possibly damaging |
Het |
Nceh1 |
A |
G |
3: 27,333,396 (GRCm39) |
D164G |
probably benign |
Het |
Nlrp2 |
A |
G |
7: 5,330,498 (GRCm39) |
S633P |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,164,863 (GRCm39) |
V216A |
possibly damaging |
Het |
Odf4 |
A |
T |
11: 68,813,759 (GRCm39) |
V143D |
possibly damaging |
Het |
Or4d6 |
G |
A |
19: 12,086,118 (GRCm39) |
T38I |
unknown |
Het |
Pex12 |
A |
G |
11: 83,188,809 (GRCm39) |
I62T |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Plekhg1 |
G |
A |
10: 3,869,170 (GRCm39) |
D237N |
probably damaging |
Het |
Rxrb |
T |
A |
17: 34,255,645 (GRCm39) |
D377E |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,609,680 (GRCm39) |
D4382V |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,705,181 (GRCm39) |
K2862* |
probably null |
Het |
Ryr3 |
A |
G |
2: 112,664,533 (GRCm39) |
L1606P |
probably benign |
Het |
Samd3 |
A |
G |
10: 26,127,813 (GRCm39) |
K270R |
probably damaging |
Het |
Slc2a5 |
C |
A |
4: 150,223,942 (GRCm39) |
F211L |
probably benign |
Het |
Spata31 |
T |
A |
13: 65,069,532 (GRCm39) |
V560D |
probably benign |
Het |
Tbk1 |
A |
G |
10: 121,393,138 (GRCm39) |
C471R |
probably benign |
Het |
Tbx20 |
A |
T |
9: 24,637,059 (GRCm39) |
S343T |
possibly damaging |
Het |
Tesk2 |
A |
G |
4: 116,659,452 (GRCm39) |
E304G |
probably benign |
Het |
Tle1 |
A |
G |
4: 72,118,239 (GRCm39) |
F2L |
possibly damaging |
Het |
Tle4 |
G |
T |
19: 14,495,244 (GRCm39) |
P162T |
probably benign |
Het |
Ttn |
G |
A |
2: 76,673,816 (GRCm39) |
P11172S |
unknown |
Het |
Tulp1 |
T |
C |
17: 28,572,746 (GRCm39) |
N470S |
possibly damaging |
Het |
Unc13b |
A |
G |
4: 43,174,399 (GRCm39) |
I1742M |
unknown |
Het |
Vmn2r107 |
T |
G |
17: 20,565,706 (GRCm39) |
I7S |
probably null |
Het |
Vmn2r91 |
T |
G |
17: 18,327,906 (GRCm39) |
I500R |
probably damaging |
Het |
Xpnpep3 |
A |
G |
15: 81,311,626 (GRCm39) |
I111V |
probably damaging |
Het |
Zp3r |
T |
A |
1: 130,519,217 (GRCm39) |
E308V |
probably benign |
Het |
|
Other mutations in Disp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
BB016:Disp1
|
UTSW |
1 |
182,917,103 (GRCm39) |
missense |
probably benign |
|
R1120:Disp1
|
UTSW |
1 |
182,880,139 (GRCm39) |
missense |
probably benign |
0.24 |
R1482:Disp1
|
UTSW |
1 |
182,868,038 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1655:Disp1
|
UTSW |
1 |
182,868,568 (GRCm39) |
missense |
probably benign |
0.01 |
R1660:Disp1
|
UTSW |
1 |
182,869,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1816:Disp1
|
UTSW |
1 |
182,880,139 (GRCm39) |
missense |
probably damaging |
0.99 |
R1835:Disp1
|
UTSW |
1 |
182,870,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Disp1
|
UTSW |
1 |
182,870,107 (GRCm39) |
missense |
probably damaging |
0.99 |
R2025:Disp1
|
UTSW |
1 |
182,869,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Disp1
|
UTSW |
1 |
182,869,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R2150:Disp1
|
UTSW |
1 |
182,869,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R2207:Disp1
|
UTSW |
1 |
182,869,906 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2392:Disp1
|
UTSW |
1 |
182,868,731 (GRCm39) |
missense |
probably benign |
|
R2831:Disp1
|
UTSW |
1 |
182,870,883 (GRCm39) |
small deletion |
probably benign |
|
R3111:Disp1
|
UTSW |
1 |
182,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R3116:Disp1
|
UTSW |
1 |
182,870,486 (GRCm39) |
missense |
probably benign |
0.01 |
R3160:Disp1
|
UTSW |
1 |
182,868,806 (GRCm39) |
missense |
probably benign |
0.09 |
R3161:Disp1
|
UTSW |
1 |
182,868,806 (GRCm39) |
missense |
probably benign |
0.09 |
R3162:Disp1
|
UTSW |
1 |
182,868,806 (GRCm39) |
missense |
probably benign |
0.09 |
R3162:Disp1
|
UTSW |
1 |
182,868,806 (GRCm39) |
missense |
probably benign |
0.09 |
R3716:Disp1
|
UTSW |
1 |
182,869,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R3914:Disp1
|
UTSW |
1 |
182,870,666 (GRCm39) |
missense |
probably benign |
0.05 |
R4061:Disp1
|
UTSW |
1 |
182,869,264 (GRCm39) |
missense |
probably damaging |
0.96 |
R4191:Disp1
|
UTSW |
1 |
182,870,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:Disp1
|
UTSW |
1 |
182,870,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4272:Disp1
|
UTSW |
1 |
182,869,208 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4273:Disp1
|
UTSW |
1 |
182,869,208 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4351:Disp1
|
UTSW |
1 |
182,881,542 (GRCm39) |
missense |
probably benign |
0.01 |
R4672:Disp1
|
UTSW |
1 |
182,880,215 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4764:Disp1
|
UTSW |
1 |
182,869,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Disp1
|
UTSW |
1 |
182,917,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R5150:Disp1
|
UTSW |
1 |
182,871,063 (GRCm39) |
missense |
probably damaging |
0.98 |
R5502:Disp1
|
UTSW |
1 |
182,869,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R5616:Disp1
|
UTSW |
1 |
182,869,913 (GRCm39) |
missense |
probably benign |
0.30 |
R5699:Disp1
|
UTSW |
1 |
182,870,119 (GRCm39) |
nonsense |
probably null |
|
R5813:Disp1
|
UTSW |
1 |
182,869,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R5820:Disp1
|
UTSW |
1 |
182,917,151 (GRCm39) |
missense |
probably benign |
0.00 |
R6184:Disp1
|
UTSW |
1 |
182,867,896 (GRCm39) |
missense |
probably benign |
0.00 |
R6228:Disp1
|
UTSW |
1 |
182,880,589 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6306:Disp1
|
UTSW |
1 |
182,868,712 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6505:Disp1
|
UTSW |
1 |
182,868,076 (GRCm39) |
missense |
probably benign |
0.02 |
R6925:Disp1
|
UTSW |
1 |
182,868,042 (GRCm39) |
missense |
probably benign |
|
R7016:Disp1
|
UTSW |
1 |
182,869,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7045:Disp1
|
UTSW |
1 |
182,869,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7046:Disp1
|
UTSW |
1 |
182,869,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7047:Disp1
|
UTSW |
1 |
182,869,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7114:Disp1
|
UTSW |
1 |
182,869,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7123:Disp1
|
UTSW |
1 |
182,869,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7124:Disp1
|
UTSW |
1 |
182,869,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7125:Disp1
|
UTSW |
1 |
182,869,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7161:Disp1
|
UTSW |
1 |
182,869,189 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7510:Disp1
|
UTSW |
1 |
182,869,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R7756:Disp1
|
UTSW |
1 |
182,871,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R7800:Disp1
|
UTSW |
1 |
182,880,550 (GRCm39) |
missense |
probably benign |
0.00 |
R7929:Disp1
|
UTSW |
1 |
182,917,103 (GRCm39) |
missense |
probably benign |
|
R8029:Disp1
|
UTSW |
1 |
182,870,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8036:Disp1
|
UTSW |
1 |
182,870,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R8045:Disp1
|
UTSW |
1 |
182,870,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R8054:Disp1
|
UTSW |
1 |
182,869,812 (GRCm39) |
nonsense |
probably null |
|
R8061:Disp1
|
UTSW |
1 |
182,869,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R8094:Disp1
|
UTSW |
1 |
182,869,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R8130:Disp1
|
UTSW |
1 |
182,917,199 (GRCm39) |
missense |
probably benign |
0.13 |
R8731:Disp1
|
UTSW |
1 |
182,869,072 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9076:Disp1
|
UTSW |
1 |
182,868,799 (GRCm39) |
missense |
possibly damaging |
0.59 |
R9490:Disp1
|
UTSW |
1 |
182,871,092 (GRCm39) |
missense |
probably benign |
0.03 |
R9712:Disp1
|
UTSW |
1 |
182,917,379 (GRCm39) |
missense |
probably damaging |
0.99 |
R9745:Disp1
|
UTSW |
1 |
182,869,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TAATGCTGAAGGCCAACAAGAC -3'
(R):5'- AGCAAGCCCAAATGGATGC -3'
Sequencing Primer
(F):5'- ATCCAGGGTACTCACCTGATGATG -3'
(R):5'- GATGCCTGCAACTTAATGGC -3'
|
Posted On |
2020-08-01 |