Incidental Mutation 'R4726:Robo1'
ID |
358497 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Robo1
|
Ensembl Gene |
ENSMUSG00000022883 |
Gene Name |
roundabout guidance receptor 1 |
Synonyms |
DUTT1 |
MMRRC Submission |
041989-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4726 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
72105194-72842983 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 72768931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 499
(A499T)
|
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: A499T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023600 Gene: ENSMUSG00000022883 AA Change: A499T
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: A508T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232545
|
Meta Mutation Damage Score |
0.5075 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
99% (74/75) |
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 |
4930583I09Rik |
T |
C |
17: 65,141,448 (GRCm39) |
S52G |
probably null |
Het |
Abcc2 |
T |
C |
19: 43,820,553 (GRCm39) |
S1351P |
probably benign |
Het |
Acp2 |
T |
A |
2: 91,034,622 (GRCm39) |
L87Q |
probably damaging |
Het |
Adgrl3 |
C |
A |
5: 81,794,425 (GRCm39) |
T550K |
possibly damaging |
Het |
Amotl2 |
A |
G |
9: 102,601,018 (GRCm39) |
R329G |
probably benign |
Het |
Angel1 |
T |
C |
12: 86,768,649 (GRCm39) |
N278S |
probably damaging |
Het |
Ankrd12 |
A |
C |
17: 66,277,319 (GRCm39) |
M1985R |
probably damaging |
Het |
Apob |
T |
A |
12: 8,040,267 (GRCm39) |
F535I |
probably damaging |
Het |
Art3 |
A |
G |
5: 92,559,002 (GRCm39) |
K313R |
probably benign |
Het |
Asxl2 |
C |
T |
12: 3,551,872 (GRCm39) |
H1205Y |
possibly damaging |
Het |
Bsph1 |
A |
T |
7: 13,206,920 (GRCm39) |
M99L |
probably benign |
Het |
Ccdc153 |
T |
C |
9: 44,154,963 (GRCm39) |
|
probably null |
Het |
Cdh16 |
A |
T |
8: 105,342,664 (GRCm39) |
M28K |
probably damaging |
Het |
Cdhr2 |
T |
C |
13: 54,866,352 (GRCm39) |
F353L |
probably damaging |
Het |
Chrna2 |
G |
T |
14: 66,386,345 (GRCm39) |
V164L |
possibly damaging |
Het |
Cip2a |
A |
G |
16: 48,834,433 (GRCm39) |
T672A |
probably benign |
Het |
Ckmt1 |
T |
C |
2: 121,191,712 (GRCm39) |
|
probably null |
Het |
Col25a1 |
A |
T |
3: 130,313,430 (GRCm39) |
E280V |
possibly damaging |
Het |
Dnajc12 |
A |
G |
10: 63,233,087 (GRCm39) |
D76G |
probably damaging |
Het |
Drd3 |
G |
T |
16: 43,643,164 (GRCm39) |
E467* |
probably null |
Het |
Ecpas |
A |
G |
4: 58,844,191 (GRCm39) |
V525A |
probably damaging |
Het |
Ehbp1l1 |
C |
A |
19: 5,769,204 (GRCm39) |
A700S |
possibly damaging |
Het |
Gab1 |
T |
C |
8: 81,515,682 (GRCm39) |
D212G |
possibly damaging |
Het |
Gm26996 |
A |
G |
6: 130,557,134 (GRCm39) |
|
noncoding transcript |
Het |
Gm28113 |
A |
G |
15: 75,198,577 (GRCm39) |
|
noncoding transcript |
Het |
Has3 |
T |
C |
8: 107,604,718 (GRCm39) |
F308S |
probably damaging |
Het |
Ifit3b |
T |
A |
19: 34,588,860 (GRCm39) |
I12N |
probably benign |
Het |
Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
Ints3 |
A |
G |
3: 90,301,084 (GRCm39) |
S840P |
probably damaging |
Het |
Itih4 |
T |
C |
14: 30,611,792 (GRCm39) |
V132A |
probably damaging |
Het |
Itprid2 |
T |
A |
2: 79,493,101 (GRCm39) |
I1216N |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,196,639 (GRCm39) |
Y51C |
probably damaging |
Het |
Klk1b24 |
G |
A |
7: 43,839,820 (GRCm39) |
V60I |
probably damaging |
Het |
Klra14-ps |
C |
A |
6: 130,134,626 (GRCm39) |
|
noncoding transcript |
Het |
Krt6b |
A |
G |
15: 101,586,520 (GRCm39) |
I323T |
probably damaging |
Het |
Lilra5 |
A |
C |
7: 4,240,957 (GRCm39) |
Q17P |
probably benign |
Het |
Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,451,851 (GRCm39) |
N1479S |
possibly damaging |
Het |
Mbd3l2 |
A |
T |
9: 18,356,256 (GRCm39) |
I194F |
probably damaging |
Het |
Megf10 |
T |
C |
18: 57,420,864 (GRCm39) |
I834T |
probably benign |
Het |
Mterf4 |
G |
A |
1: 93,229,471 (GRCm39) |
T251M |
probably damaging |
Het |
Mtmr3 |
A |
T |
11: 4,457,634 (GRCm39) |
D170E |
probably damaging |
Het |
Myom3 |
C |
T |
4: 135,534,586 (GRCm39) |
|
probably null |
Het |
Nemp1 |
G |
A |
10: 127,530,462 (GRCm39) |
V305I |
probably benign |
Het |
Nlrp1b |
G |
T |
11: 71,072,232 (GRCm39) |
T537K |
probably benign |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Or5b3 |
T |
A |
19: 13,388,469 (GRCm39) |
C179S |
probably damaging |
Het |
Or6c206 |
A |
G |
10: 129,097,045 (GRCm39) |
T72A |
possibly damaging |
Het |
Or8k28 |
A |
G |
2: 86,286,580 (GRCm39) |
F12L |
possibly damaging |
Het |
Pias1 |
A |
G |
9: 62,827,771 (GRCm39) |
V212A |
probably damaging |
Het |
Plscr1 |
T |
A |
9: 92,145,221 (GRCm39) |
V77D |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,299,798 (GRCm39) |
N1657S |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,069,414 (GRCm39) |
V1551A |
possibly damaging |
Het |
Ptprn2 |
C |
A |
12: 117,211,393 (GRCm39) |
Y857* |
probably null |
Het |
Puf60 |
A |
T |
15: 75,944,183 (GRCm39) |
|
probably null |
Het |
Rnf20 |
C |
T |
4: 49,654,579 (GRCm39) |
R879* |
probably null |
Het |
Slc39a14 |
A |
G |
14: 70,551,048 (GRCm39) |
|
probably null |
Het |
Smarcad1 |
A |
T |
6: 65,052,025 (GRCm39) |
H6L |
probably damaging |
Het |
Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
Stk39 |
T |
A |
2: 68,093,647 (GRCm39) |
D488V |
probably damaging |
Het |
Stx19 |
A |
G |
16: 62,642,495 (GRCm39) |
N104D |
probably benign |
Het |
Tcstv1b |
A |
T |
13: 120,635,173 (GRCm39) |
S152C |
possibly damaging |
Het |
Tmem222 |
T |
C |
4: 133,004,975 (GRCm39) |
M21V |
probably benign |
Het |
Trim43b |
T |
A |
9: 88,971,538 (GRCm39) |
N205I |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,209,890 (GRCm39) |
H5017N |
possibly damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,536,960 (GRCm39) |
T548A |
probably damaging |
Het |
Vps8 |
G |
A |
16: 21,267,154 (GRCm39) |
|
probably null |
Het |
Wasl |
A |
G |
6: 24,633,110 (GRCm39) |
V176A |
probably benign |
Het |
Wbp2nl |
T |
A |
15: 82,190,255 (GRCm39) |
V61E |
probably damaging |
Het |
Zfp959 |
T |
A |
17: 56,205,260 (GRCm39) |
|
probably null |
Het |
Zmiz1 |
T |
C |
14: 25,644,098 (GRCm39) |
|
probably null |
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 |
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'- AGGGGCATTTCTGGTTCAAAG -3'
(R):5'- CATCTGTAACTTCGGGCTTTGAG -3'
Sequencing Primer
(F):5'- TTTTCCAGCCCAGAAAGG -3'
(R):5'- GGTTGAACTGGAACCCCAAATTC -3'
|
Posted On |
2015-11-11 |