Incidental Mutation 'IGL00090:Robo4'
ID 1333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Robo4
Ensembl Gene ENSMUSG00000032125
Gene Name roundabout guidance receptor 4
Synonyms Magic roundabout, 1200012D01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # IGL00090
Quality Score
Status
Chromosome 9
Chromosomal Location 37313198-37325319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37322400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 844 (S844G)
Ref Sequence ENSEMBL: ENSMUSP00000110698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034643] [ENSMUST00000102895] [ENSMUST00000115038] [ENSMUST00000115046] [ENSMUST00000115048] [ENSMUST00000156972] [ENSMUST00000214185]
AlphaFold Q8C310
Predicted Effect probably benign
Transcript: ENSMUST00000034643
SMART Domains Protein: ENSMUSP00000034643
Gene: ENSMUSG00000032128

DomainStartEndE-ValueType
IGc2 54 128 9.7e-11 SMART
IGc2 156 221 1.44e-4 SMART
IGc2 248 311 1.89e-13 SMART
IGc2 337 409 9.84e-12 SMART
IGc2 441 506 2.09e-15 SMART
FN3 534 616 4.24e-14 SMART
FN3 648 731 3.06e0 SMART
FN3 747 832 1.97e-9 SMART
low complexity region 870 890 N/A INTRINSIC
low complexity region 1055 1082 N/A INTRINSIC
low complexity region 1131 1149 N/A INTRINSIC
low complexity region 1155 1169 N/A INTRINSIC
low complexity region 1193 1206 N/A INTRINSIC
low complexity region 1245 1256 N/A INTRINSIC
low complexity region 1268 1281 N/A INTRINSIC
low complexity region 1336 1376 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102895
AA Change: S785G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099959
Gene: ENSMUSG00000032125
AA Change: S785G

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
IG 48 144 2.51e0 SMART
IGc2 160 225 6.86e-11 SMART
FN3 263 343 2.05e0 SMART
FN3 358 440 1.27e-3 SMART
low complexity region 488 494 N/A INTRINSIC
low complexity region 544 562 N/A INTRINSIC
low complexity region 720 733 N/A INTRINSIC
low complexity region 748 762 N/A INTRINSIC
low complexity region 775 799 N/A INTRINSIC
low complexity region 855 866 N/A INTRINSIC
low complexity region 871 880 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115038
SMART Domains Protein: ENSMUSP00000110690
Gene: ENSMUSG00000032128

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
IGc2 76 150 9.7e-11 SMART
IGc2 178 243 1.44e-4 SMART
IGc2 270 333 1.89e-13 SMART
IGc2 359 431 9.84e-12 SMART
IGc2 463 528 2.09e-15 SMART
FN3 556 638 4.24e-14 SMART
FN3 670 753 3.06e0 SMART
FN3 769 854 1.97e-9 SMART
low complexity region 892 912 N/A INTRINSIC
low complexity region 1077 1104 N/A INTRINSIC
low complexity region 1153 1171 N/A INTRINSIC
low complexity region 1177 1191 N/A INTRINSIC
low complexity region 1215 1228 N/A INTRINSIC
low complexity region 1267 1278 N/A INTRINSIC
low complexity region 1290 1303 N/A INTRINSIC
low complexity region 1358 1398 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115046
AA Change: S844G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110698
Gene: ENSMUSG00000032125
AA Change: S844G

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
IG 48 144 2.51e0 SMART
IGc2 160 225 6.86e-11 SMART
FN3 263 343 2.05e0 SMART
FN3 358 440 1.27e-3 SMART
low complexity region 484 500 N/A INTRINSIC
low complexity region 540 546 N/A INTRINSIC
low complexity region 596 614 N/A INTRINSIC
low complexity region 747 756 N/A INTRINSIC
low complexity region 779 792 N/A INTRINSIC
low complexity region 807 821 N/A INTRINSIC
low complexity region 834 858 N/A INTRINSIC
low complexity region 914 925 N/A INTRINSIC
low complexity region 930 939 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115048
AA Change: S681G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110700
Gene: ENSMUSG00000032125
AA Change: S681G

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
IG 48 144 2.51e0 SMART
IGc2 160 225 6.86e-11 SMART
FN3 263 343 2.05e0 SMART
FN3 358 440 1.27e-3 SMART
low complexity region 488 494 N/A INTRINSIC
low complexity region 544 562 N/A INTRINSIC
low complexity region 695 704 N/A INTRINSIC
low complexity region 727 740 N/A INTRINSIC
low complexity region 755 769 N/A INTRINSIC
low complexity region 782 806 N/A INTRINSIC
low complexity region 862 873 N/A INTRINSIC
low complexity region 878 887 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171467
Predicted Effect probably damaging
Transcript: ENSMUST00000214185
AA Change: S792G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215777
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a reporter/null allele display enhanced VEGF-induced endothelial migration, tube formation and vascular permeability, and show increased pathologic angiogenesis and vascular leak in models of oxygen-induced retinopathy and choroidal neovascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Robo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Robo4 APN 9 37,319,525 (GRCm39) missense probably damaging 1.00
IGL00491:Robo4 APN 9 37,317,231 (GRCm39) missense possibly damaging 0.52
IGL00792:Robo4 APN 9 37,319,507 (GRCm39) missense probably damaging 1.00
IGL01062:Robo4 APN 9 37,317,296 (GRCm39) missense probably benign 0.08
IGL01287:Robo4 APN 9 37,324,336 (GRCm39) missense possibly damaging 0.96
IGL02289:Robo4 APN 9 37,319,496 (GRCm39) missense probably damaging 1.00
IGL02486:Robo4 APN 9 37,319,670 (GRCm39) missense probably damaging 1.00
IGL02851:Robo4 APN 9 37,324,678 (GRCm39) missense probably damaging 0.96
IGL02898:Robo4 APN 9 37,319,472 (GRCm39) missense probably damaging 0.99
IGL02965:Robo4 APN 9 37,321,765 (GRCm39) missense possibly damaging 0.82
IGL03071:Robo4 APN 9 37,315,580 (GRCm39) splice site probably benign
IGL03102:Robo4 APN 9 37,315,481 (GRCm39) missense probably damaging 1.00
H8562:Robo4 UTSW 9 37,317,106 (GRCm39) intron probably benign
PIT4305001:Robo4 UTSW 9 37,322,687 (GRCm39) missense probably damaging 1.00
R0056:Robo4 UTSW 9 37,315,773 (GRCm39) missense probably benign 0.03
R0068:Robo4 UTSW 9 37,315,773 (GRCm39) missense probably benign 0.03
R0233:Robo4 UTSW 9 37,313,977 (GRCm39) missense probably damaging 1.00
R0233:Robo4 UTSW 9 37,313,977 (GRCm39) missense probably damaging 1.00
R0416:Robo4 UTSW 9 37,316,062 (GRCm39) splice site probably benign
R1005:Robo4 UTSW 9 37,319,547 (GRCm39) missense probably damaging 1.00
R1174:Robo4 UTSW 9 37,324,348 (GRCm39) missense probably damaging 1.00
R1183:Robo4 UTSW 9 37,319,348 (GRCm39) missense probably damaging 1.00
R1254:Robo4 UTSW 9 37,322,136 (GRCm39) critical splice donor site probably null
R1398:Robo4 UTSW 9 37,319,372 (GRCm39) critical splice donor site probably null
R1505:Robo4 UTSW 9 37,314,523 (GRCm39) missense probably damaging 0.98
R1701:Robo4 UTSW 9 37,314,739 (GRCm39) missense probably benign 0.44
R1834:Robo4 UTSW 9 37,324,355 (GRCm39) missense probably benign 0.09
R1899:Robo4 UTSW 9 37,315,366 (GRCm39) splice site probably benign
R2203:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R2204:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R2351:Robo4 UTSW 9 37,322,956 (GRCm39) missense probably benign 0.01
R2448:Robo4 UTSW 9 37,313,958 (GRCm39) missense possibly damaging 0.96
R2847:Robo4 UTSW 9 37,315,772 (GRCm39) nonsense probably null
R2851:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R2852:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R2877:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R3123:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R3124:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R3125:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R3805:Robo4 UTSW 9 37,315,734 (GRCm39) missense possibly damaging 0.73
R3806:Robo4 UTSW 9 37,315,734 (GRCm39) missense possibly damaging 0.73
R3892:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R3905:Robo4 UTSW 9 37,314,801 (GRCm39) nonsense probably null
R3938:Robo4 UTSW 9 37,313,313 (GRCm39) start gained probably benign
R4261:Robo4 UTSW 9 37,316,877 (GRCm39) missense probably benign 0.04
R4434:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R4435:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R4561:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R4562:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R4568:Robo4 UTSW 9 37,316,118 (GRCm39) missense possibly damaging 0.59
R4695:Robo4 UTSW 9 37,314,495 (GRCm39) missense probably damaging 1.00
R4921:Robo4 UTSW 9 37,313,856 (GRCm39) missense probably benign
R5000:Robo4 UTSW 9 37,319,664 (GRCm39) missense probably benign 0.02
R5056:Robo4 UTSW 9 37,316,102 (GRCm39) missense probably benign 0.00
R5125:Robo4 UTSW 9 37,319,256 (GRCm39) missense probably damaging 1.00
R5178:Robo4 UTSW 9 37,319,256 (GRCm39) missense probably damaging 1.00
R5278:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5279:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5285:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5347:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5348:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5361:Robo4 UTSW 9 37,324,674 (GRCm39) missense probably benign 0.01
R5403:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5404:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5488:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5489:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5490:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5494:Robo4 UTSW 9 37,322,786 (GRCm39) frame shift probably null
R5629:Robo4 UTSW 9 37,319,658 (GRCm39) missense probably damaging 1.00
R5736:Robo4 UTSW 9 37,316,093 (GRCm39) missense possibly damaging 0.63
R5796:Robo4 UTSW 9 37,322,970 (GRCm39) missense probably benign 0.00
R5987:Robo4 UTSW 9 37,322,696 (GRCm39) missense probably damaging 1.00
R6178:Robo4 UTSW 9 37,316,926 (GRCm39) nonsense probably null
R6189:Robo4 UTSW 9 37,314,829 (GRCm39) missense probably benign 0.35
R6365:Robo4 UTSW 9 37,322,008 (GRCm39) missense probably benign 0.34
R6528:Robo4 UTSW 9 37,315,664 (GRCm39) missense possibly damaging 0.92
R6887:Robo4 UTSW 9 37,313,363 (GRCm39) missense possibly damaging 0.82
R7196:Robo4 UTSW 9 37,314,001 (GRCm39) missense possibly damaging 0.92
R7408:Robo4 UTSW 9 37,322,277 (GRCm39) missense probably benign 0.09
R7419:Robo4 UTSW 9 37,314,105 (GRCm39) missense probably benign 0.18
R7486:Robo4 UTSW 9 37,316,870 (GRCm39) missense probably damaging 0.99
R7707:Robo4 UTSW 9 37,324,418 (GRCm39) missense probably damaging 1.00
R7839:Robo4 UTSW 9 37,322,055 (GRCm39) missense probably damaging 1.00
R8079:Robo4 UTSW 9 37,313,931 (GRCm39) missense possibly damaging 0.82
R8081:Robo4 UTSW 9 37,316,936 (GRCm39) missense probably damaging 0.99
R8280:Robo4 UTSW 9 37,315,372 (GRCm39) missense probably benign 0.00
R8526:Robo4 UTSW 9 37,314,801 (GRCm39) nonsense probably null
R8547:Robo4 UTSW 9 37,315,674 (GRCm39) missense possibly damaging 0.69
R8735:Robo4 UTSW 9 37,319,577 (GRCm39) missense possibly damaging 0.92
R8836:Robo4 UTSW 9 37,317,130 (GRCm39) missense unknown
R8889:Robo4 UTSW 9 37,314,601 (GRCm39) missense probably benign 0.00
R9018:Robo4 UTSW 9 37,315,520 (GRCm39) missense probably benign 0.00
R9182:Robo4 UTSW 9 37,313,206 (GRCm39) start gained probably benign
R9375:Robo4 UTSW 9 37,316,158 (GRCm39) missense probably damaging 1.00
R9621:Robo4 UTSW 9 37,317,509 (GRCm39) missense probably damaging 1.00
Posted On 2011-07-12