Incidental Mutation 'R7016:Disp1'
| ID |
545288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disp1
|
| Ensembl Gene |
ENSMUSG00000030768 |
| Gene Name |
dispatched RND transporter family member 1 |
| Synonyms |
DispA, 1190008H24Rik |
| MMRRC Submission |
045117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R7016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
182867830-183003086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 182869030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1130
(R1130L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003035]
[ENSMUST00000171366]
[ENSMUST00000195372]
|
| AlphaFold |
Q3TDN0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003035
AA Change: R1130L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003035
Gene: ENSMUSG00000030768
AA Change: R1130L
| 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 damaging
Transcript: ENSMUST00000171366
AA Change: R1130L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126742
Gene: ENSMUSG00000030768
AA Change: R1130L
| 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 damaging
Transcript: ENSMUST00000195372
AA Change: R1130L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141747
Gene: ENSMUSG00000030768
AA Change: R1130L
| 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 |
|
| Meta Mutation Damage Score |
0.1740 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (63/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,986,843 (GRCm39) |
V754D |
probably benign |
Het |
| Actn1 |
T |
A |
12: 80,219,742 (GRCm39) |
M710L |
possibly damaging |
Het |
| Adam1a |
A |
G |
5: 121,659,101 (GRCm39) |
F64S |
probably benign |
Het |
| Aip |
G |
T |
19: 4,171,402 (GRCm39) |
D11E |
probably benign |
Het |
| Ak7 |
T |
A |
12: 105,747,938 (GRCm39) |
Y714* |
probably null |
Het |
| Amhr2 |
A |
G |
15: 102,362,799 (GRCm39) |
E522G |
possibly damaging |
Het |
| Amotl1 |
A |
G |
9: 14,504,995 (GRCm39) |
L108P |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,528,184 (GRCm39) |
S677P |
probably benign |
Het |
| Asph |
T |
C |
4: 9,630,604 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
C |
3: 35,895,185 (GRCm39) |
S908P |
probably benign |
Het |
| Atp13a3 |
C |
A |
16: 30,157,308 (GRCm39) |
V903L |
possibly damaging |
Het |
| Bcam |
G |
A |
7: 19,492,368 (GRCm39) |
R576* |
probably null |
Het |
| Btbd2 |
A |
G |
10: 80,484,449 (GRCm39) |
S141P |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,652,860 (GRCm39) |
N67S |
possibly damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,784,248 (GRCm39) |
T872A |
possibly damaging |
Het |
| Ccdc24 |
T |
A |
4: 117,728,313 (GRCm39) |
I144F |
probably null |
Het |
| Cep44 |
A |
T |
8: 56,997,234 (GRCm39) |
F101L |
possibly damaging |
Het |
| Cfap410 |
T |
A |
10: 77,818,790 (GRCm39) |
C154S |
probably benign |
Het |
| Cimap1d |
T |
C |
10: 79,475,790 (GRCm39) |
Y258C |
probably damaging |
Het |
| Dnajc21 |
G |
T |
15: 10,461,493 (GRCm39) |
Y152* |
probably null |
Het |
| Edem2 |
A |
G |
2: 155,557,992 (GRCm39) |
F214L |
possibly damaging |
Het |
| Fam118b |
G |
A |
9: 35,135,014 (GRCm39) |
R198W |
probably damaging |
Het |
| Fgb |
A |
G |
3: 82,953,371 (GRCm39) |
V133A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,979 (GRCm39) |
T5571A |
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Hnf4a |
T |
A |
2: 163,406,193 (GRCm39) |
Y277N |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,420,583 (GRCm39) |
D143G |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,010,342 (GRCm39) |
N611D |
probably damaging |
Het |
| Ksr1 |
A |
T |
11: 78,918,362 (GRCm39) |
N515K |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,395,836 (GRCm39) |
|
probably null |
Het |
| Map3k20 |
T |
A |
2: 72,208,979 (GRCm39) |
V195D |
probably damaging |
Het |
| Meox2 |
A |
G |
12: 37,159,223 (GRCm39) |
S132G |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nell2 |
T |
A |
15: 95,127,032 (GRCm39) |
N781I |
possibly damaging |
Het |
| Or12d16-ps1 |
G |
A |
17: 37,706,094 (GRCm39) |
G221D |
possibly damaging |
Het |
| Or13a22 |
A |
G |
7: 140,073,153 (GRCm39) |
T201A |
probably benign |
Het |
| Or51m1 |
A |
G |
7: 103,578,737 (GRCm39) |
I236V |
probably benign |
Het |
| Or5e1 |
A |
G |
7: 108,354,918 (GRCm39) |
N285S |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,746,989 (GRCm39) |
Q918L |
probably damaging |
Het |
| Palld |
T |
G |
8: 61,969,032 (GRCm39) |
K1022T |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 117,031,627 (GRCm39) |
S362T |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,817,476 (GRCm39) |
E95G |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,668,994 (GRCm39) |
F76I |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,187,706 (GRCm39) |
|
probably null |
Het |
| Ptdss1 |
A |
C |
13: 67,120,685 (GRCm39) |
M294L |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,804,361 (GRCm39) |
|
probably null |
Het |
| Rilp |
A |
G |
11: 75,401,745 (GRCm39) |
E175G |
probably damaging |
Het |
| Serpina16 |
T |
A |
12: 103,641,630 (GRCm39) |
T32S |
probably benign |
Het |
| Sim1 |
C |
T |
10: 50,860,346 (GRCm39) |
S736L |
probably benign |
Het |
| Smarcc2 |
T |
G |
10: 128,321,198 (GRCm39) |
|
probably null |
Het |
| Smtn |
A |
G |
11: 3,480,368 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,426,098 (GRCm39) |
W98R |
probably damaging |
Het |
| St8sia3 |
A |
T |
18: 64,402,654 (GRCm39) |
I98F |
probably benign |
Het |
| Taf10 |
A |
T |
7: 105,393,205 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
T |
13: 3,626,857 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Tbc1d4 |
T |
A |
14: 101,724,877 (GRCm39) |
N580I |
probably damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,413 (GRCm39) |
C48S |
|
Het |
| Tsc22d1 |
C |
A |
14: 76,654,982 (GRCm39) |
T405K |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,443,977 (GRCm39) |
D2G |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,300,583 (GRCm39) |
E960G |
unknown |
Het |
| Yme1l1 |
T |
A |
2: 23,076,367 (GRCm39) |
|
probably null |
Het |
| Zbtb2 |
G |
C |
10: 4,318,646 (GRCm39) |
P460R |
probably damaging |
Het |
| Zfp62 |
T |
G |
11: 49,106,764 (GRCm39) |
I285S |
probably damaging |
Het |
|
| Other mutations in Disp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB006:Disp1
|
UTSW |
1 |
182,917,103 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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'- AGTCTTCTCCGAGGAAGTGC -3'
(R):5'- TTCTCTCTGAGCCGTATGGG -3'
Sequencing Primer
(F):5'- CGTAAAACTCATGCTCCAGTTGGG -3'
(R):5'- TATGGGCTCTGCGATCGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation