Incidental Mutation 'R8191:Robo1'
ID |
635183 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Robo1
|
Ensembl Gene |
ENSMUSG00000022883 |
Gene Name |
roundabout guidance receptor 1 |
Synonyms |
DUTT1 |
MMRRC Submission |
067614-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8191 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
72105194-72842983 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 72730142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 194
(S194R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023600]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023600
AA Change: S194R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000023600 Gene: ENSMUSG00000022883 AA Change: S194R
Domain | Start | End | E-Value | Type |
IGc2
|
41 |
115 |
3.15e-10 |
SMART |
IGc2
|
143 |
208 |
2.52e-9 |
SMART |
IGc2
|
235 |
298 |
3.85e-14 |
SMART |
IGv
|
328 |
391 |
3.71e-7 |
SMART |
IGc2
|
428 |
493 |
2.46e-12 |
SMART |
FN3
|
522 |
604 |
3.17e-13 |
SMART |
FN3
|
634 |
721 |
1.66e0 |
SMART |
FN3
|
736 |
822 |
4.28e-10 |
SMART |
low complexity region
|
1108 |
1125 |
N/A |
INTRINSIC |
low complexity region
|
1148 |
1157 |
N/A |
INTRINSIC |
low complexity region
|
1186 |
1197 |
N/A |
INTRINSIC |
low complexity region
|
1249 |
1269 |
N/A |
INTRINSIC |
low complexity region
|
1282 |
1298 |
N/A |
INTRINSIC |
low complexity region
|
1345 |
1357 |
N/A |
INTRINSIC |
low complexity region
|
1362 |
1380 |
N/A |
INTRINSIC |
low complexity region
|
1442 |
1449 |
N/A |
INTRINSIC |
low complexity region
|
1563 |
1576 |
N/A |
INTRINSIC |
low complexity region
|
1602 |
1611 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] PHENOTYPE: Mice homozygous for a reporter allele show altered axon guidance. Mice homozygous for a null allele die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for another null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700037C18Rik |
G |
A |
16: 3,724,918 (GRCm39) |
R49W |
probably damaging |
Het |
Adamts4 |
T |
C |
1: 171,080,292 (GRCm39) |
S282P |
|
Het |
Aqp4 |
A |
G |
18: 15,531,222 (GRCm39) |
S180P |
probably benign |
Het |
Armc2 |
T |
G |
10: 41,839,747 (GRCm39) |
E406A |
probably benign |
Het |
Atp13a3 |
A |
T |
16: 30,168,598 (GRCm39) |
Y464N |
probably damaging |
Het |
B3gnt3 |
C |
A |
8: 72,146,122 (GRCm39) |
V136L |
probably benign |
Het |
Cacna1s |
C |
T |
1: 136,035,893 (GRCm39) |
H1378Y |
probably damaging |
Het |
Ccnk |
A |
T |
12: 108,159,933 (GRCm39) |
E138D |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,957,375 (GRCm39) |
K1878E |
probably benign |
Het |
Cep57l1 |
T |
A |
10: 41,616,955 (GRCm39) |
I111L |
probably damaging |
Het |
Cfap298 |
G |
T |
16: 90,727,889 (GRCm39) |
N100K |
probably damaging |
Het |
Copg2 |
T |
C |
6: 30,790,665 (GRCm39) |
I509V |
probably benign |
Het |
Cux2 |
T |
A |
5: 122,012,217 (GRCm39) |
D406V |
probably benign |
Het |
Cyp2a12 |
G |
T |
7: 26,730,529 (GRCm39) |
A165S |
probably benign |
Het |
Dnaaf5 |
T |
G |
5: 139,167,250 (GRCm39) |
S719A |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,646,618 (GRCm39) |
I1220V |
possibly damaging |
Het |
Dnai3 |
G |
T |
3: 145,800,066 (GRCm39) |
P158H |
probably damaging |
Het |
Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
Dusp10 |
T |
A |
1: 183,769,749 (GRCm39) |
D238E |
possibly damaging |
Het |
Dync1li1 |
C |
A |
9: 114,538,253 (GRCm39) |
D203E |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,872,587 (GRCm39) |
|
probably null |
Het |
Eif5b |
T |
C |
1: 38,075,283 (GRCm39) |
S587P |
probably damaging |
Het |
Ephb2 |
G |
A |
4: 136,386,256 (GRCm39) |
T832I |
probably damaging |
Het |
Exoc1 |
T |
A |
5: 76,707,674 (GRCm39) |
|
probably null |
Het |
Fam193a |
T |
A |
5: 34,597,917 (GRCm39) |
N571K |
probably damaging |
Het |
Fem1a |
T |
A |
17: 56,565,356 (GRCm39) |
I483N |
probably damaging |
Het |
Fgf20 |
C |
A |
8: 40,761,361 (GRCm39) |
|
probably benign |
Het |
Fkbp1a |
C |
T |
2: 151,399,356 (GRCm39) |
P98S |
|
Het |
Gpsm3 |
A |
T |
17: 34,809,451 (GRCm39) |
D19V |
probably benign |
Het |
Ido2 |
C |
A |
8: 25,023,696 (GRCm39) |
G381W |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,579,226 (GRCm39) |
T540A |
possibly damaging |
Het |
Isl1 |
A |
T |
13: 116,441,954 (GRCm39) |
M93K |
probably benign |
Het |
Map3k10 |
T |
A |
7: 27,362,671 (GRCm39) |
S472C |
probably damaging |
Het |
Mcrs1 |
A |
T |
15: 99,141,206 (GRCm39) |
V432E |
probably damaging |
Het |
Metap2 |
A |
G |
10: 93,701,267 (GRCm39) |
|
probably null |
Het |
Muc5b |
A |
G |
7: 141,421,421 (GRCm39) |
S4304G |
probably benign |
Het |
Myef2l |
G |
T |
3: 10,153,914 (GRCm39) |
V228F |
probably damaging |
Het |
Nell1 |
T |
C |
7: 50,098,622 (GRCm39) |
V308A |
unknown |
Het |
Or10g1b |
A |
G |
14: 52,627,987 (GRCm39) |
V81A |
probably benign |
Het |
Or4d5 |
A |
T |
9: 40,012,767 (GRCm39) |
H6Q |
probably benign |
Het |
Plxna4 |
C |
A |
6: 32,493,885 (GRCm39) |
V244F |
possibly damaging |
Het |
Pnpla6 |
T |
C |
8: 3,592,382 (GRCm39) |
S1224P |
probably benign |
Het |
Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
Rnpep |
T |
C |
1: 135,200,172 (GRCm39) |
E261G |
possibly damaging |
Het |
Rpusd1 |
C |
G |
17: 25,947,611 (GRCm39) |
Y99* |
probably null |
Het |
Scarf1 |
T |
C |
11: 75,413,065 (GRCm39) |
M437T |
probably benign |
Het |
Sh3tc2 |
G |
T |
18: 62,106,429 (GRCm39) |
D153Y |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,927,599 (GRCm39) |
Y69C |
probably damaging |
Het |
Slc25a34 |
T |
C |
4: 141,347,895 (GRCm39) |
Y262C |
probably damaging |
Het |
Srrm2 |
T |
A |
17: 24,039,219 (GRCm39) |
N1954K |
probably damaging |
Het |
St6galnac2 |
T |
C |
11: 116,572,748 (GRCm39) |
Y236C |
probably damaging |
Het |
Stac3 |
T |
A |
10: 127,344,068 (GRCm39) |
I322N |
probably damaging |
Het |
Tcaf1 |
T |
C |
6: 42,652,190 (GRCm39) |
Q764R |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,737,606 (GRCm39) |
R1282* |
probably null |
Het |
Tlr2 |
T |
A |
3: 83,743,821 (GRCm39) |
K754M |
probably damaging |
Het |
Tlr2 |
T |
G |
3: 83,743,822 (GRCm39) |
K754Q |
probably damaging |
Het |
Tnn |
C |
T |
1: 159,953,088 (GRCm39) |
V651M |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,701,083 (GRCm39) |
H9622R |
unknown |
Het |
Tubgcp6 |
C |
T |
15: 89,004,843 (GRCm39) |
G259S |
probably damaging |
Het |
Ubr5 |
C |
A |
15: 38,006,751 (GRCm39) |
C1174F |
|
Het |
Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
Vit |
C |
T |
17: 78,853,828 (GRCm39) |
H25Y |
probably benign |
Het |
Vmn1r177 |
G |
A |
7: 23,565,736 (GRCm39) |
Q47* |
probably null |
Het |
Vmn2r104 |
A |
T |
17: 20,250,465 (GRCm39) |
V602D |
possibly damaging |
Het |
Vmn2r115 |
A |
G |
17: 23,578,530 (GRCm39) |
T668A |
probably damaging |
Het |
Vmn2r125 |
T |
G |
4: 156,703,709 (GRCm39) |
C362W |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,238,712 (GRCm39) |
T267A |
probably damaging |
Het |
Xpa |
C |
A |
4: 46,183,225 (GRCm39) |
R188L |
possibly damaging |
Het |
Zfp143 |
C |
T |
7: 109,676,364 (GRCm39) |
T249I |
probably damaging |
Het |
Zfp607a |
A |
G |
7: 27,578,868 (GRCm39) |
E646G |
possibly damaging |
Het |
Zfp729a |
A |
T |
13: 67,769,838 (GRCm39) |
S130R |
probably benign |
Het |
Zswim3 |
C |
A |
2: 164,662,128 (GRCm39) |
Q203K |
probably damaging |
Het |
|
Other mutations in Robo1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01766:Robo1
|
APN |
16 |
72,801,553 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01937:Robo1
|
APN |
16 |
72,759,114 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01945:Robo1
|
APN |
16 |
72,759,114 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02151:Robo1
|
APN |
16 |
72,786,504 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02232:Robo1
|
APN |
16 |
72,768,872 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02282:Robo1
|
APN |
16 |
72,539,026 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02590:Robo1
|
APN |
16 |
72,840,020 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02874:Robo1
|
APN |
16 |
72,809,806 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02974:Robo1
|
APN |
16 |
72,803,750 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03233:Robo1
|
APN |
16 |
72,767,081 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4378001:Robo1
|
UTSW |
16 |
72,801,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R0079:Robo1
|
UTSW |
16 |
72,730,230 (GRCm39) |
splice site |
probably benign |
|
R0254:Robo1
|
UTSW |
16 |
72,461,058 (GRCm39) |
missense |
probably benign |
0.00 |
R0366:Robo1
|
UTSW |
16 |
72,539,133 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0410:Robo1
|
UTSW |
16 |
72,768,872 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0511:Robo1
|
UTSW |
16 |
72,810,013 (GRCm39) |
critical splice donor site |
probably null |
|
R0563:Robo1
|
UTSW |
16 |
72,769,174 (GRCm39) |
missense |
probably benign |
0.01 |
R0637:Robo1
|
UTSW |
16 |
72,798,839 (GRCm39) |
missense |
probably benign |
0.29 |
R1239:Robo1
|
UTSW |
16 |
72,821,430 (GRCm39) |
splice site |
probably null |
|
R1773:Robo1
|
UTSW |
16 |
72,801,399 (GRCm39) |
missense |
probably benign |
0.00 |
R1777:Robo1
|
UTSW |
16 |
72,801,555 (GRCm39) |
missense |
probably benign |
|
R1901:Robo1
|
UTSW |
16 |
72,757,092 (GRCm39) |
missense |
probably null |
1.00 |
R1902:Robo1
|
UTSW |
16 |
72,757,092 (GRCm39) |
missense |
probably null |
1.00 |
R1903:Robo1
|
UTSW |
16 |
72,757,092 (GRCm39) |
missense |
probably null |
1.00 |
R1996:Robo1
|
UTSW |
16 |
72,767,067 (GRCm39) |
missense |
probably benign |
0.40 |
R2040:Robo1
|
UTSW |
16 |
72,730,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R2266:Robo1
|
UTSW |
16 |
72,775,660 (GRCm39) |
missense |
probably benign |
|
R2269:Robo1
|
UTSW |
16 |
72,775,660 (GRCm39) |
missense |
probably benign |
|
R2433:Robo1
|
UTSW |
16 |
72,767,127 (GRCm39) |
missense |
probably benign |
0.01 |
R3084:Robo1
|
UTSW |
16 |
72,801,625 (GRCm39) |
missense |
probably benign |
0.02 |
R3085:Robo1
|
UTSW |
16 |
72,798,898 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3150:Robo1
|
UTSW |
16 |
72,767,157 (GRCm39) |
missense |
possibly damaging |
0.57 |
R3418:Robo1
|
UTSW |
16 |
72,832,805 (GRCm39) |
missense |
probably benign |
0.00 |
R3610:Robo1
|
UTSW |
16 |
72,780,658 (GRCm39) |
missense |
probably benign |
0.00 |
R3940:Robo1
|
UTSW |
16 |
72,806,631 (GRCm39) |
missense |
probably benign |
|
R3953:Robo1
|
UTSW |
16 |
72,821,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R4692:Robo1
|
UTSW |
16 |
72,757,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R4726:Robo1
|
UTSW |
16 |
72,768,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R4814:Robo1
|
UTSW |
16 |
72,768,923 (GRCm39) |
missense |
probably benign |
0.11 |
R4884:Robo1
|
UTSW |
16 |
72,701,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R4992:Robo1
|
UTSW |
16 |
72,776,756 (GRCm39) |
missense |
probably damaging |
0.98 |
R5150:Robo1
|
UTSW |
16 |
72,769,192 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5183:Robo1
|
UTSW |
16 |
72,539,038 (GRCm39) |
missense |
probably benign |
0.03 |
R5360:Robo1
|
UTSW |
16 |
72,732,665 (GRCm39) |
missense |
probably damaging |
0.96 |
R5629:Robo1
|
UTSW |
16 |
72,780,598 (GRCm39) |
missense |
probably benign |
0.33 |
R5804:Robo1
|
UTSW |
16 |
72,840,077 (GRCm39) |
critical splice donor site |
probably null |
|
R6107:Robo1
|
UTSW |
16 |
72,780,717 (GRCm39) |
missense |
probably benign |
0.00 |
R6127:Robo1
|
UTSW |
16 |
72,809,956 (GRCm39) |
missense |
probably benign |
|
R6128:Robo1
|
UTSW |
16 |
72,809,956 (GRCm39) |
missense |
probably benign |
|
R6129:Robo1
|
UTSW |
16 |
72,809,956 (GRCm39) |
missense |
probably benign |
|
R6191:Robo1
|
UTSW |
16 |
72,730,696 (GRCm39) |
missense |
probably benign |
0.00 |
R6357:Robo1
|
UTSW |
16 |
72,767,190 (GRCm39) |
missense |
probably benign |
0.00 |
R6408:Robo1
|
UTSW |
16 |
72,768,934 (GRCm39) |
missense |
probably benign |
0.00 |
R6516:Robo1
|
UTSW |
16 |
72,821,241 (GRCm39) |
missense |
probably benign |
0.14 |
R6600:Robo1
|
UTSW |
16 |
72,786,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R6802:Robo1
|
UTSW |
16 |
72,730,201 (GRCm39) |
missense |
probably benign |
0.17 |
R7105:Robo1
|
UTSW |
16 |
72,539,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R7189:Robo1
|
UTSW |
16 |
72,757,039 (GRCm39) |
nonsense |
probably null |
|
R7290:Robo1
|
UTSW |
16 |
72,801,408 (GRCm39) |
missense |
probably benign |
0.03 |
R7296:Robo1
|
UTSW |
16 |
72,786,519 (GRCm39) |
nonsense |
probably null |
|
R7576:Robo1
|
UTSW |
16 |
72,767,069 (GRCm39) |
missense |
probably damaging |
0.99 |
R7605:Robo1
|
UTSW |
16 |
72,821,189 (GRCm39) |
missense |
probably benign |
0.14 |
R7607:Robo1
|
UTSW |
16 |
72,360,626 (GRCm39) |
missense |
|
|
R7634:Robo1
|
UTSW |
16 |
72,839,866 (GRCm39) |
splice site |
probably null |
|
R7636:Robo1
|
UTSW |
16 |
72,360,615 (GRCm39) |
missense |
|
|
R7857:Robo1
|
UTSW |
16 |
72,767,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R7966:Robo1
|
UTSW |
16 |
72,780,760 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7997:Robo1
|
UTSW |
16 |
72,701,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R8101:Robo1
|
UTSW |
16 |
72,775,469 (GRCm39) |
missense |
probably benign |
0.03 |
R8218:Robo1
|
UTSW |
16 |
72,786,678 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8228:Robo1
|
UTSW |
16 |
72,809,768 (GRCm39) |
missense |
probably benign |
0.30 |
R8292:Robo1
|
UTSW |
16 |
72,769,420 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8298:Robo1
|
UTSW |
16 |
72,769,020 (GRCm39) |
intron |
probably benign |
|
R8332:Robo1
|
UTSW |
16 |
72,775,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R8402:Robo1
|
UTSW |
16 |
72,821,385 (GRCm39) |
missense |
probably benign |
0.16 |
R8492:Robo1
|
UTSW |
16 |
72,809,911 (GRCm39) |
missense |
probably benign |
0.06 |
R8730:Robo1
|
UTSW |
16 |
72,786,495 (GRCm39) |
missense |
probably benign |
0.08 |
R8774:Robo1
|
UTSW |
16 |
72,832,719 (GRCm39) |
missense |
probably benign |
0.00 |
R8774-TAIL:Robo1
|
UTSW |
16 |
72,832,719 (GRCm39) |
missense |
probably benign |
0.00 |
R8776:Robo1
|
UTSW |
16 |
72,821,141 (GRCm39) |
nonsense |
probably null |
|
R8776-TAIL:Robo1
|
UTSW |
16 |
72,821,141 (GRCm39) |
nonsense |
probably null |
|
R8905:Robo1
|
UTSW |
16 |
72,539,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R8913:Robo1
|
UTSW |
16 |
72,701,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R9003:Robo1
|
UTSW |
16 |
72,539,002 (GRCm39) |
splice site |
probably benign |
|
R9246:Robo1
|
UTSW |
16 |
72,769,178 (GRCm39) |
missense |
probably benign |
|
R9451:Robo1
|
UTSW |
16 |
72,803,718 (GRCm39) |
missense |
probably benign |
0.10 |
R9509:Robo1
|
UTSW |
16 |
72,759,167 (GRCm39) |
missense |
probably damaging |
0.96 |
R9652:Robo1
|
UTSW |
16 |
72,821,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9653:Robo1
|
UTSW |
16 |
72,821,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9749:Robo1
|
UTSW |
16 |
72,105,257 (GRCm39) |
start gained |
probably benign |
|
Z1176:Robo1
|
UTSW |
16 |
72,774,688 (GRCm39) |
missense |
probably benign |
0.16 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGGTTAGGAGACTTTTAATCACTG -3'
(R):5'- AAGATGCTTTGCAGTTCCTTC -3'
Sequencing Primer
(F):5'- TCACTGTTACTATTTCAAGTGAAGG -3'
(R):5'- CCACATACTGGATTATGGGTATTTC -3'
|
Posted On |
2020-07-13 |