Incidental Mutation 'R3085:Robo1'
| ID |
265609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Robo1
|
| Ensembl Gene |
ENSMUSG00000022883 |
| Gene Name |
roundabout guidance receptor 1 |
| Synonyms |
DUTT1 |
| MMRRC Submission |
040574-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
72105194-72842983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72798898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 953
(I953V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023600]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023600
AA Change: I953V
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023600
Gene: ENSMUSG00000022883
AA Change: I953V
| 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 |
unknown
Transcript: ENSMUST00000232205
AA Change: I962V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232432
|
| Meta Mutation Damage Score |
0.0805 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,270,536 (GRCm39) |
|
probably benign |
Het |
| Adrm1 |
T |
C |
2: 179,816,094 (GRCm39) |
|
probably null |
Het |
| Aldh18a1 |
T |
C |
19: 40,562,813 (GRCm39) |
I76V |
probably benign |
Het |
| Atp1b2 |
T |
C |
11: 69,493,705 (GRCm39) |
K125E |
possibly damaging |
Het |
| Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,923,018 (GRCm39) |
T293A |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,185,476 (GRCm39) |
V345D |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,628,979 (GRCm39) |
E131G |
unknown |
Het |
| Col4a4 |
C |
T |
1: 82,507,285 (GRCm39) |
|
probably null |
Het |
| Creb3l1 |
G |
T |
2: 91,825,789 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,341,445 (GRCm39) |
D601G |
probably benign |
Het |
| Dipk1a |
G |
T |
5: 108,062,290 (GRCm39) |
D28E |
probably damaging |
Het |
| Dnaaf4 |
T |
A |
9: 72,879,688 (GRCm39) |
N289K |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,759,332 (GRCm39) |
E807G |
probably damaging |
Het |
| Exog |
C |
A |
9: 119,291,518 (GRCm39) |
T241K |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,344,314 (GRCm39) |
D109G |
probably benign |
Het |
| Fat2 |
C |
T |
11: 55,142,997 (GRCm39) |
R4284H |
possibly damaging |
Het |
| Fbxw13 |
C |
A |
9: 109,013,299 (GRCm39) |
G130* |
probably null |
Het |
| Fcrl5 |
A |
G |
3: 87,353,771 (GRCm39) |
Y372C |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,835,526 (GRCm39) |
S435P |
probably damaging |
Het |
| Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
| Havcr1 |
C |
T |
11: 46,647,052 (GRCm39) |
T162I |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,039,340 (GRCm39) |
F947S |
probably damaging |
Het |
| Irx1 |
G |
T |
13: 72,111,411 (GRCm39) |
A66E |
probably damaging |
Het |
| Klf11 |
T |
C |
12: 24,705,490 (GRCm39) |
S315P |
probably benign |
Het |
| Kynu |
A |
G |
2: 43,492,312 (GRCm39) |
M190V |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,297,479 (GRCm39) |
T3161A |
probably benign |
Het |
| Macrod1 |
G |
T |
19: 7,173,859 (GRCm39) |
A208S |
probably damaging |
Het |
| Mamdc2 |
G |
A |
19: 23,288,296 (GRCm39) |
H581Y |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
| Mthfd1l |
G |
A |
10: 4,040,007 (GRCm39) |
R806H |
probably benign |
Het |
| Nags |
T |
A |
11: 102,036,810 (GRCm39) |
V133D |
probably damaging |
Het |
| Nrg3 |
C |
A |
14: 38,092,906 (GRCm39) |
D560Y |
probably damaging |
Het |
| Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
| Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
| Or4p23 |
A |
G |
2: 88,576,488 (GRCm39) |
F248S |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,708,553 (GRCm39) |
S240P |
probably damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pde6d |
T |
C |
1: 86,475,248 (GRCm39) |
|
probably null |
Het |
| Plekhf1 |
T |
C |
7: 37,921,001 (GRCm39) |
E189G |
probably benign |
Het |
| Ppm1b |
A |
T |
17: 85,321,288 (GRCm39) |
I477L |
probably benign |
Het |
| Rad51ap2 |
C |
A |
12: 11,506,758 (GRCm39) |
Q227K |
possibly damaging |
Het |
| Rnf125 |
T |
C |
18: 21,110,787 (GRCm39) |
V15A |
probably benign |
Het |
| Rnps1 |
C |
T |
17: 24,631,393 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,618,186 (GRCm39) |
|
probably null |
Het |
| Smarcc2 |
T |
C |
10: 128,324,028 (GRCm39) |
|
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,584,672 (GRCm39) |
E224V |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,221,356 (GRCm39) |
V357A |
probably benign |
Het |
| Synpo2l |
T |
C |
14: 20,712,248 (GRCm39) |
D350G |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,064,913 (GRCm39) |
N1448Y |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,273,227 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
| Tmem40 |
T |
C |
6: 115,718,576 (GRCm39) |
D43G |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,725,871 (GRCm39) |
C156S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,077 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,081 (GRCm39) |
M419V |
probably benign |
Het |
| Wdr73 |
G |
A |
7: 80,550,990 (GRCm39) |
|
probably benign |
Het |
| Zc3hc1 |
C |
T |
6: 30,374,763 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,682,664 (GRCm39) |
Y3368H |
unknown |
Het |
| Zfp263 |
G |
A |
16: 3,567,580 (GRCm39) |
E632K |
probably damaging |
Het |
| Zfp266 |
A |
G |
9: 20,412,240 (GRCm39) |
L111P |
probably damaging |
Het |
| Zfp626 |
T |
A |
7: 27,517,587 (GRCm39) |
S189R |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,206,699 (GRCm39) |
R331G |
possibly damaging |
Het |
| Zkscan5 |
G |
A |
5: 145,157,889 (GRCm39) |
C797Y |
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 |
|
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'- AGCTCGGCAGATTATGGTGAG -3'
(R):5'- GAAGATATTTGAGCAGGCTAGTTAG -3'
Sequencing Primer
(F):5'- GATTAGTCAAATGAAACGCTTGCTGG -3'
(R):5'- CCTGGTAAGGCTGATGAT -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation