Incidental Mutation 'R0366:Robo1'
ID |
36440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Robo1
|
Ensembl Gene |
ENSMUSG00000022883 |
Gene Name |
roundabout guidance receptor 1 |
Synonyms |
DUTT1 |
MMRRC Submission |
038572-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0366 (G1)
|
Quality Score |
204 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
72105194-72842983 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72539133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 59
(T59A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023600]
[ENSMUST00000231580]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023600
AA Change: T59A
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000023600 Gene: ENSMUSG00000022883 AA Change: T59A
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 |
noncoding transcript
Transcript: ENSMUST00000231265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231474
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231580
AA Change: T77A
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000232205
AA Change: T68A
|
Meta Mutation Damage Score |
0.2198 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
99% (68/69) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
G |
T |
17: 46,635,724 (GRCm39) |
S93* |
probably null |
Het |
Ackr2 |
T |
C |
9: 121,738,426 (GRCm39) |
L267P |
probably damaging |
Het |
Adgre4 |
T |
A |
17: 56,099,001 (GRCm39) |
L169* |
probably null |
Het |
Ankrd12 |
T |
A |
17: 66,291,501 (GRCm39) |
S1311C |
possibly damaging |
Het |
Arid2 |
T |
A |
15: 96,259,601 (GRCm39) |
|
probably benign |
Het |
Atp9b |
A |
T |
18: 80,805,317 (GRCm39) |
V747E |
probably damaging |
Het |
Best1 |
T |
C |
19: 9,969,417 (GRCm39) |
|
probably null |
Het |
Brwd1 |
C |
A |
16: 95,839,164 (GRCm39) |
E836* |
probably null |
Het |
Cachd1 |
A |
G |
4: 100,851,934 (GRCm39) |
S1177G |
possibly damaging |
Het |
Cacna1e |
C |
T |
1: 154,291,884 (GRCm39) |
E1766K |
probably benign |
Het |
Cckar |
A |
G |
5: 53,857,507 (GRCm39) |
I301T |
probably benign |
Het |
Cdc27 |
T |
G |
11: 104,396,474 (GRCm39) |
T816P |
probably damaging |
Het |
Cep162 |
T |
G |
9: 87,102,537 (GRCm39) |
Q708H |
probably damaging |
Het |
Cep250 |
C |
A |
2: 155,830,321 (GRCm39) |
D1301E |
probably benign |
Het |
D430041D05Rik |
G |
A |
2: 104,085,685 (GRCm39) |
H955Y |
probably damaging |
Het |
Dcdc2a |
T |
A |
13: 25,240,417 (GRCm39) |
V55E |
probably damaging |
Het |
Efcab12 |
A |
G |
6: 115,800,209 (GRCm39) |
|
probably benign |
Het |
Ep400 |
A |
G |
5: 110,849,537 (GRCm39) |
V1428A |
unknown |
Het |
Erbb3 |
T |
C |
10: 128,408,439 (GRCm39) |
E825G |
possibly damaging |
Het |
Evl |
A |
T |
12: 108,652,307 (GRCm39) |
|
probably null |
Het |
Fuca2 |
G |
A |
10: 13,381,507 (GRCm39) |
R140H |
probably benign |
Het |
Gm5581 |
T |
C |
6: 131,143,410 (GRCm39) |
|
noncoding transcript |
Het |
Gm7052 |
T |
C |
17: 22,259,498 (GRCm39) |
|
probably benign |
Het |
Gpd1 |
T |
G |
15: 99,617,151 (GRCm39) |
I119S |
probably damaging |
Het |
Gzmc |
A |
T |
14: 56,470,193 (GRCm39) |
Y101* |
probably null |
Het |
Hmcn2 |
G |
T |
2: 31,314,218 (GRCm39) |
A3588S |
possibly damaging |
Het |
Ikbkb |
A |
G |
8: 23,185,276 (GRCm39) |
|
probably benign |
Het |
Itgax |
G |
T |
7: 127,748,261 (GRCm39) |
|
probably benign |
Het |
Kif24 |
C |
A |
4: 41,428,717 (GRCm39) |
S81I |
possibly damaging |
Het |
Lct |
G |
A |
1: 128,214,199 (GRCm39) |
P1858S |
probably benign |
Het |
Map2k1 |
C |
A |
9: 64,100,984 (GRCm39) |
|
probably null |
Het |
Mdga1 |
A |
G |
17: 30,076,682 (GRCm39) |
V30A |
possibly damaging |
Het |
Meiosin |
T |
A |
7: 18,840,964 (GRCm39) |
I57F |
probably damaging |
Het |
Mtcl1 |
G |
A |
17: 66,645,124 (GRCm39) |
P1441L |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,963,739 (GRCm39) |
F596Y |
possibly damaging |
Het |
Notch4 |
A |
T |
17: 34,800,473 (GRCm39) |
|
probably benign |
Het |
Or2l5 |
A |
G |
16: 19,333,598 (GRCm39) |
S263P |
probably benign |
Het |
Or4c12 |
A |
C |
2: 89,774,162 (GRCm39) |
V99G |
possibly damaging |
Het |
Or6c1 |
A |
G |
10: 129,517,840 (GRCm39) |
M256T |
possibly damaging |
Het |
Or8b44 |
T |
A |
9: 38,410,450 (GRCm39) |
C162S |
possibly damaging |
Het |
Or8k25 |
A |
G |
2: 86,244,369 (GRCm39) |
V9A |
possibly damaging |
Het |
Pbld2 |
A |
G |
10: 62,889,736 (GRCm39) |
|
probably benign |
Het |
Phip |
T |
C |
9: 82,808,460 (GRCm39) |
Y505C |
probably damaging |
Het |
Plcb2 |
A |
G |
2: 118,554,928 (GRCm39) |
F58L |
probably benign |
Het |
Plcd1 |
T |
A |
9: 118,910,204 (GRCm39) |
I72F |
probably damaging |
Het |
Ppp5c |
A |
T |
7: 16,756,508 (GRCm39) |
Y63* |
probably null |
Het |
Prdm4 |
T |
C |
10: 85,743,868 (GRCm39) |
D129G |
probably damaging |
Het |
Prkcq |
C |
A |
2: 11,251,649 (GRCm39) |
|
probably benign |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Rab7b |
T |
A |
1: 131,626,242 (GRCm39) |
V90D |
probably damaging |
Het |
Ripk3 |
T |
C |
14: 56,024,292 (GRCm39) |
T193A |
probably damaging |
Het |
Rnf167 |
C |
T |
11: 70,540,143 (GRCm39) |
R88* |
probably null |
Het |
Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
Scg3 |
T |
A |
9: 75,582,620 (GRCm39) |
|
probably benign |
Het |
Sec31a |
A |
T |
5: 100,530,625 (GRCm39) |
L677H |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Setd7 |
T |
C |
3: 51,457,741 (GRCm39) |
T29A |
probably benign |
Het |
Shoc1 |
A |
C |
4: 59,099,410 (GRCm39) |
M94R |
probably benign |
Het |
Slc4a5 |
A |
G |
6: 83,272,854 (GRCm39) |
Y942C |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,599,470 (GRCm39) |
Y1027F |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,882,764 (GRCm39) |
|
probably null |
Het |
Tdrd12 |
T |
C |
7: 35,208,227 (GRCm39) |
Q249R |
probably benign |
Het |
Tmem171 |
T |
A |
13: 98,828,736 (GRCm39) |
D138V |
possibly damaging |
Het |
Ttll10 |
G |
A |
4: 156,119,612 (GRCm39) |
R596W |
probably damaging |
Het |
Usp53 |
G |
T |
3: 122,742,850 (GRCm39) |
N695K |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,800,581 (GRCm39) |
L587* |
probably null |
Het |
Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
probably benign |
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 |
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 |
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'- TGCAAGGATCAGCCTATGGCAC -3'
(R):5'- TCTCCGAGGTAATTCCTAGCCACAC -3'
Sequencing Primer
(F):5'- CACCTGTCCAGGCAGAGTTAAG -3'
(R):5'- GGTAATTCCTAGCCACACAGATGTAG -3'
|
Posted On |
2013-05-09 |