Incidental Mutation 'R8492:Robo1'
| ID |
658080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Robo1
|
| Ensembl Gene |
ENSMUSG00000022883 |
| Gene Name |
roundabout guidance receptor 1 |
| Synonyms |
DUTT1 |
| MMRRC Submission |
067934-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8492 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
72105194-72842983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72809911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1220
(S1220P)
|
| 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: S1220P
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: S1220P
| 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: 99.1%
|
| Validation Efficiency |
100% (68/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
A |
10: 29,094,243 (GRCm39) |
R43K |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,793,410 (GRCm39) |
Y354F |
probably benign |
Het |
| Aloxe3 |
A |
T |
11: 69,017,301 (GRCm39) |
T25S |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,250,503 (GRCm39) |
K414E |
probably damaging |
Het |
| Ankmy2 |
A |
T |
12: 36,226,590 (GRCm39) |
I95F |
probably damaging |
Het |
| Ankrd35 |
T |
G |
3: 96,589,529 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
A |
G |
13: 94,531,294 (GRCm39) |
N91S |
possibly damaging |
Het |
| Apip |
T |
A |
2: 102,922,866 (GRCm39) |
L228H |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,365,847 (GRCm39) |
Y488C |
probably damaging |
Het |
| Asah2 |
G |
A |
19: 31,983,659 (GRCm39) |
T595M |
probably benign |
Het |
| Ccdc174 |
G |
C |
6: 91,865,138 (GRCm39) |
R132T |
probably benign |
Het |
| Ccng2 |
A |
C |
5: 93,419,313 (GRCm39) |
H233P |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,622,422 (GRCm39) |
F586L |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,390,926 (GRCm39) |
S969P |
probably damaging |
Het |
| Cep170b |
G |
A |
12: 112,711,134 (GRCm39) |
D1505N |
probably damaging |
Het |
| Colec12 |
T |
A |
18: 9,876,980 (GRCm39) |
|
probably null |
Het |
| Cytip |
A |
G |
2: 58,027,869 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,167,525 (GRCm39) |
S1026T |
probably damaging |
Het |
| Disc1 |
T |
A |
8: 125,817,177 (GRCm39) |
D372E |
probably damaging |
Het |
| Dlgap2 |
A |
T |
8: 14,828,271 (GRCm39) |
M560L |
possibly damaging |
Het |
| Dync2li1 |
C |
A |
17: 84,957,134 (GRCm39) |
|
probably null |
Het |
| Eif3c |
C |
T |
7: 126,162,282 (GRCm39) |
G180D |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| G6pc2 |
A |
G |
2: 69,050,586 (GRCm39) |
I70M |
probably damaging |
Het |
| Gm5145 |
A |
T |
17: 20,790,681 (GRCm39) |
I20F |
probably damaging |
Het |
| Hba-x |
T |
A |
11: 32,227,921 (GRCm39) |
F128L |
probably benign |
Het |
| Hspb1 |
G |
A |
5: 135,918,222 (GRCm39) |
E190K |
possibly damaging |
Het |
| Ift122 |
T |
A |
6: 115,863,966 (GRCm39) |
S246T |
probably benign |
Het |
| Inppl1 |
A |
T |
7: 101,475,985 (GRCm39) |
S828T |
probably damaging |
Het |
| Krt84 |
C |
A |
15: 101,438,051 (GRCm39) |
Q301H |
probably damaging |
Het |
| Malrd1 |
T |
G |
2: 15,614,934 (GRCm39) |
S250A |
|
Het |
| Mettl21e |
A |
G |
1: 44,245,553 (GRCm39) |
I231T |
probably damaging |
Het |
| Miip |
T |
C |
4: 147,945,881 (GRCm39) |
D341G |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,313,473 (GRCm39) |
D1287G |
probably damaging |
Het |
| Ndufb5 |
T |
G |
3: 32,805,377 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,203,224 (GRCm39) |
E309G |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,299,248 (GRCm39) |
F199I |
probably benign |
Het |
| Or12k7 |
T |
A |
2: 36,958,695 (GRCm39) |
I126N |
probably damaging |
Het |
| Pcdhgc3 |
T |
A |
18: 37,940,347 (GRCm39) |
Y249* |
probably null |
Het |
| Plekhg3 |
G |
T |
12: 76,622,790 (GRCm39) |
V677L |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,733,042 (GRCm39) |
Y25H |
probably damaging |
Het |
| Prok2 |
A |
T |
6: 99,691,437 (GRCm39) |
H75Q |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,184,524 (GRCm39) |
H1494Q |
possibly damaging |
Het |
| Rapgef6 |
T |
G |
11: 54,581,063 (GRCm39) |
I1277S |
probably damaging |
Het |
| Rhob |
G |
T |
12: 8,549,531 (GRCm39) |
Y34* |
probably null |
Het |
| Rnf141 |
T |
G |
7: 110,436,407 (GRCm39) |
D7A |
probably benign |
Het |
| Rpl13a |
A |
G |
7: 44,775,945 (GRCm39) |
V48A |
possibly damaging |
Het |
| Serpinb9f |
C |
A |
13: 33,518,587 (GRCm39) |
H362Q |
probably damaging |
Het |
| Shld2 |
T |
A |
14: 33,967,189 (GRCm39) |
K122N |
probably damaging |
Het |
| Slc22a8 |
G |
T |
19: 8,571,595 (GRCm39) |
V109L |
probably damaging |
Het |
| Slc5a10 |
A |
G |
11: 61,564,809 (GRCm39) |
V390A |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,263,869 (GRCm39) |
N839D |
possibly damaging |
Het |
| Taf1c |
G |
A |
8: 120,325,456 (GRCm39) |
T802I |
probably benign |
Het |
| Tdh |
C |
A |
14: 63,730,269 (GRCm39) |
D337Y |
probably damaging |
Het |
| Tmem156 |
A |
T |
5: 65,222,438 (GRCm39) |
Y255N |
possibly damaging |
Het |
| Tmpo |
C |
A |
10: 90,997,720 (GRCm39) |
R689L |
probably benign |
Het |
| Trim56 |
A |
C |
5: 137,141,783 (GRCm39) |
C578G |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Trpv3 |
G |
A |
11: 73,179,035 (GRCm39) |
W481* |
probably null |
Het |
| Tssk3 |
T |
C |
4: 129,383,445 (GRCm39) |
M76V |
probably benign |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,056 (GRCm39) |
Y32F |
possibly damaging |
Het |
| Vmn1r53 |
A |
G |
6: 90,200,394 (GRCm39) |
I310T |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,821,470 (GRCm39) |
T148A |
probably benign |
Het |
| Zdhhc14 |
G |
A |
17: 5,762,689 (GRCm39) |
V198I |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,927,499 (GRCm39) |
R637G |
possibly damaging |
Het |
| Zic5 |
G |
T |
14: 122,702,474 (GRCm39) |
Q86K |
unknown |
Het |
| Zzef1 |
T |
A |
11: 72,777,572 (GRCm39) |
M1801K |
probably damaging |
Het |
| Zzef1 |
T |
G |
11: 72,763,430 (GRCm39) |
V1359G |
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 |
|
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 |
|
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'- GCACGTTCTTGTCATCTGTCATAG -3'
(R):5'- CCACTATCTGTATGGGCTAGTAGC -3'
Sequencing Primer
(F):5'- GCTATGATCAAGAAATGCCCTGTC -3'
(R):5'- AATTGTTTCGTGGCACAACGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation