Incidental Mutation 'R7605:Robo1'
ID |
588272 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Robo1
|
Ensembl Gene |
ENSMUSG00000022883 |
Gene Name |
roundabout guidance receptor 1 |
Synonyms |
DUTT1 |
MMRRC Submission |
045675-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7605 (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 72821189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 1310
(R1310S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023600]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023600
AA Change: R1310S
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000023600 Gene: ENSMUSG00000022883 AA Change: R1310S
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 |
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,881,899 (GRCm39) |
L610P |
probably damaging |
Het |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Asphd2 |
A |
G |
5: 112,539,807 (GRCm39) |
W9R |
probably damaging |
Het |
Blvrb |
T |
A |
7: 27,165,218 (GRCm39) |
H179Q |
probably damaging |
Het |
Capn13 |
A |
T |
17: 73,652,132 (GRCm39) |
|
probably null |
Het |
Casp6 |
A |
T |
3: 129,705,812 (GRCm39) |
M160L |
probably benign |
Het |
Chordc1 |
A |
G |
9: 18,215,668 (GRCm39) |
E140G |
probably benign |
Het |
Col24a1 |
A |
T |
3: 145,244,442 (GRCm39) |
Y1572F |
possibly damaging |
Het |
Cul9 |
A |
G |
17: 46,852,658 (GRCm39) |
S235P |
probably damaging |
Het |
Cyp2u1 |
A |
T |
3: 131,091,602 (GRCm39) |
M306K |
probably damaging |
Het |
Dhx33 |
A |
G |
11: 70,890,299 (GRCm39) |
L240P |
probably damaging |
Het |
Dna2 |
T |
A |
10: 62,796,054 (GRCm39) |
D494E |
probably benign |
Het |
Dnah7c |
C |
T |
1: 46,671,470 (GRCm39) |
R1620C |
probably damaging |
Het |
Dpp8 |
G |
A |
9: 64,962,240 (GRCm39) |
V427M |
probably benign |
Het |
Dpt |
G |
A |
1: 164,624,400 (GRCm39) |
G34S |
unknown |
Het |
Emb |
T |
A |
13: 117,401,046 (GRCm39) |
N198K |
probably damaging |
Het |
Entpd5 |
T |
G |
12: 84,443,482 (GRCm39) |
H62P |
probably damaging |
Het |
Ep300 |
A |
C |
15: 81,505,353 (GRCm39) |
M658L |
unknown |
Het |
Epb41l4a |
T |
A |
18: 33,930,504 (GRCm39) |
D651V |
probably damaging |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Ephb2 |
A |
T |
4: 136,498,419 (GRCm39) |
V220E |
probably damaging |
Het |
Fam187a |
T |
A |
11: 102,776,874 (GRCm39) |
L226H |
possibly damaging |
Het |
Fbxo42 |
G |
A |
4: 140,927,129 (GRCm39) |
A470T |
probably benign |
Het |
Fcgrt |
C |
T |
7: 44,744,675 (GRCm39) |
W264* |
probably null |
Het |
Flt3 |
A |
C |
5: 147,286,386 (GRCm39) |
H733Q |
probably benign |
Het |
Gabrr2 |
A |
G |
4: 33,082,560 (GRCm39) |
D228G |
probably damaging |
Het |
Gars1 |
T |
C |
6: 55,054,735 (GRCm39) |
S681P |
probably damaging |
Het |
Gata2 |
T |
C |
6: 88,177,390 (GRCm39) |
V140A |
possibly damaging |
Het |
Gm8232 |
A |
T |
14: 44,672,384 (GRCm39) |
N100I |
|
Het |
Grik4 |
A |
G |
9: 42,599,367 (GRCm39) |
C37R |
probably damaging |
Het |
Grm8 |
T |
C |
6: 27,618,678 (GRCm39) |
E388G |
probably damaging |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Igsf9b |
C |
T |
9: 27,234,608 (GRCm39) |
T491I |
probably damaging |
Het |
Impa1 |
C |
T |
3: 10,389,147 (GRCm39) |
V105I |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,567,771 (GRCm39) |
T134A |
probably damaging |
Het |
Itgb4 |
T |
A |
11: 115,897,302 (GRCm39) |
V1521E |
probably benign |
Het |
Iws1 |
T |
A |
18: 32,222,540 (GRCm39) |
D623E |
probably benign |
Het |
Lhfpl5 |
T |
C |
17: 28,795,305 (GRCm39) |
S111P |
possibly damaging |
Het |
Lyzl1 |
T |
C |
18: 4,169,244 (GRCm39) |
C83R |
probably damaging |
Het |
Madd |
G |
A |
2: 91,000,055 (GRCm39) |
T617M |
possibly damaging |
Het |
Magi2 |
A |
G |
5: 20,433,383 (GRCm39) |
T163A |
probably damaging |
Het |
Mdn1 |
C |
A |
4: 32,694,599 (GRCm39) |
H1107Q |
probably damaging |
Het |
Mfsd14b |
A |
T |
13: 65,214,591 (GRCm39) |
Y454N |
probably benign |
Het |
Mrgprb3 |
T |
A |
7: 48,292,862 (GRCm39) |
I230F |
probably benign |
Het |
Mroh2b |
C |
T |
15: 4,974,505 (GRCm39) |
L1162F |
probably damaging |
Het |
Or11i1 |
G |
T |
3: 106,729,337 (GRCm39) |
H179Q |
probably damaging |
Het |
Or2aj5 |
T |
C |
16: 19,425,022 (GRCm39) |
Y131C |
probably damaging |
Het |
Or51f23b |
C |
T |
7: 102,402,952 (GRCm39) |
M61I |
probably benign |
Het |
Or51m1 |
T |
C |
7: 103,578,075 (GRCm39) |
L15P |
probably damaging |
Het |
Or5ar1 |
A |
G |
2: 85,671,383 (GRCm39) |
F251L |
probably benign |
Het |
Or9e1 |
A |
G |
11: 58,732,326 (GRCm39) |
I129V |
probably benign |
Het |
Pclo |
T |
C |
5: 14,729,050 (GRCm39) |
L2636P |
unknown |
Het |
Pfkm |
G |
A |
15: 98,019,191 (GRCm39) |
A181T |
probably damaging |
Het |
Pik3r1 |
C |
T |
13: 101,839,346 (GRCm39) |
A169T |
probably benign |
Het |
R3hdml |
T |
A |
2: 163,337,688 (GRCm39) |
M114K |
probably damaging |
Het |
Scnm1 |
A |
T |
3: 95,040,186 (GRCm39) |
N115K |
probably benign |
Het |
Sfn |
A |
G |
4: 133,328,548 (GRCm39) |
V178A |
probably damaging |
Het |
Shank2 |
C |
T |
7: 143,645,516 (GRCm39) |
T366I |
possibly damaging |
Het |
Siah1a |
T |
C |
8: 87,451,953 (GRCm39) |
D177G |
probably damaging |
Het |
Slc37a2 |
A |
C |
9: 37,148,624 (GRCm39) |
I286S |
possibly damaging |
Het |
Smarce1 |
T |
C |
11: 99,119,118 (GRCm39) |
T12A |
probably benign |
Het |
Spata31d1c |
T |
A |
13: 65,183,654 (GRCm39) |
S399T |
probably benign |
Het |
Specc1 |
A |
G |
11: 62,102,506 (GRCm39) |
S942G |
possibly damaging |
Het |
Syt13 |
T |
C |
2: 92,773,478 (GRCm39) |
F164S |
probably benign |
Het |
Topbp1 |
A |
T |
9: 103,209,905 (GRCm39) |
T851S |
probably benign |
Het |
Ttn |
A |
T |
2: 76,800,015 (GRCm39) |
S398T |
unknown |
Het |
Vmn1r12 |
T |
C |
6: 57,136,521 (GRCm39) |
V206A |
probably damaging |
Het |
Vmn1r224 |
G |
A |
17: 20,640,221 (GRCm39) |
W266* |
probably null |
Het |
Vmn2r68 |
T |
C |
7: 84,883,116 (GRCm39) |
D212G |
probably benign |
Het |
Vps13b |
G |
T |
15: 35,770,792 (GRCm39) |
K2078N |
probably damaging |
Het |
Zfp251 |
A |
C |
15: 76,738,557 (GRCm39) |
F179V |
possibly 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 |
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 |
R8191:Robo1
|
UTSW |
16 |
72,730,142 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CTTCAACTTGCCGGTTAGTTATTG -3'
(R):5'- GGGCAAAATCAGCGTCAGTG -3'
Sequencing Primer
(F):5'- TTGTCTTCCTACAGGCGGCAG -3'
(R):5'- CGTCAGTGAAAAAGGAGCCATC -3'
|
Posted On |
2019-10-24 |