Incidental Mutation 'R0013:Slit3'
ID 32653
Institutional Source Beutler Lab
Gene Symbol Slit3
Ensembl Gene ENSMUSG00000056427
Gene Name slit guidance ligand 3
Synonyms Slit1, b2b2362.1Clo
MMRRC Submission 038308-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R0013 (G1)
Quality Score 159
Status Validated
Chromosome 11
Chromosomal Location 35012283-35599334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35598745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1450 (M1450V)
Ref Sequence ENSEMBL: ENSMUSP00000066857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069837]
AlphaFold Q9WVB4
Predicted Effect probably benign
Transcript: ENSMUST00000069837
AA Change: M1450V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066857
Gene: ENSMUSG00000056427
AA Change: M1450V

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
LRRNT 33 65 2.12e-8 SMART
LRR 59 83 1.37e2 SMART
LRR_TYP 84 107 1.12e-3 SMART
LRR_TYP 108 131 7.78e-3 SMART
LRR_TYP 132 155 5.42e-2 SMART
LRR 156 179 5.88e0 SMART
LRR 180 203 7.55e-1 SMART
LRRCT 215 264 1.33e-6 SMART
LRRNT 279 311 6.79e-7 SMART
LRR 305 329 1.16e2 SMART
LRR 330 353 1.26e1 SMART
LRR_TYP 354 377 2.79e-4 SMART
LRR 378 401 4.05e-1 SMART
LRR 402 425 4.05e-1 SMART
LRRCT 437 486 7.75e-8 SMART
LRRNT 504 536 1.95e-7 SMART
LRR_TYP 556 579 7.49e-5 SMART
LRR 581 603 6.41e1 SMART
LRR_TYP 604 627 2.53e-2 SMART
LRR 628 651 1.76e-1 SMART
LRRCT 663 712 2.52e-7 SMART
LRRNT 724 756 3e-8 SMART
LRR 774 797 2.14e0 SMART
LRR_TYP 798 821 2.95e-3 SMART
LRR_TYP 822 845 2.43e-4 SMART
LRRCT 857 906 1.12e-13 SMART
EGF 919 953 6.86e-4 SMART
EGF 958 994 8.84e-7 SMART
EGF 999 1032 1.13e-4 SMART
EGF 1037 1072 2.3e-5 SMART
EGF_CA 1074 1110 5.92e-8 SMART
EGF 1122 1155 3.79e-6 SMART
LamG 1178 1314 3.16e-34 SMART
EGF 1331 1365 2.19e-2 SMART
EGF 1371 1403 1.13e-4 SMART
EGF 1411 1444 5.57e-4 SMART
CT 1455 1523 4.56e-5 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 94% (79/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a gene trap allele show congenital diaphragmatic hernia (CDH), variable renal defects and enlarged heart right ventricles. Mice homozygous for either of two reporter alleles show diaphragm dysgenesis and die prematurely; those with end-stage CDH show dyspnea and lung congestion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,293,346 (GRCm39) M156V probably benign Het
Adnp2 A T 18: 80,172,960 (GRCm39) V483D probably damaging Het
Aff1 G T 5: 103,976,350 (GRCm39) E491* probably null Het
Agl A T 3: 116,570,257 (GRCm39) C911* probably null Het
Akt2 A G 7: 27,335,483 (GRCm39) D284G probably damaging Het
Alox15 A G 11: 70,240,461 (GRCm39) M240T possibly damaging Het
Antxr2 A G 5: 98,127,844 (GRCm39) V229A probably damaging Het
Arap2 G A 5: 62,840,827 (GRCm39) L680F probably damaging Het
Btaf1 A G 19: 36,935,773 (GRCm39) T188A probably benign Het
Btnl6 G A 17: 34,734,505 (GRCm39) Q86* probably null Het
C2cd3 T A 7: 100,065,269 (GRCm39) L685H probably damaging Het
Cdh23 T C 10: 60,248,952 (GRCm39) T878A possibly damaging Het
Clec4b2 T C 6: 123,179,108 (GRCm39) Y137H probably damaging Het
Dchs1 T A 7: 105,405,043 (GRCm39) T2500S possibly damaging Het
Def6 A G 17: 28,436,066 (GRCm39) Y75C probably damaging Het
Dhx33 A T 11: 70,884,461 (GRCm39) F448L probably damaging Het
Dner C T 1: 84,472,614 (GRCm39) probably benign Het
Dnmbp G A 19: 43,890,670 (GRCm39) P366S probably benign Het
Eif4g3 T C 4: 137,903,159 (GRCm39) C1160R possibly damaging Het
Elmod1 G A 9: 53,820,185 (GRCm39) probably benign Het
Faah C A 4: 115,861,588 (GRCm39) L305F probably damaging Het
Flt1 A G 5: 147,507,824 (GRCm39) probably benign Het
Fyco1 A T 9: 123,651,471 (GRCm39) N1196K probably benign Het
Galnt18 T C 7: 111,153,664 (GRCm39) N320S probably damaging Het
Garin3 A G 11: 46,297,631 (GRCm39) T312A unknown Het
Glp2r C A 11: 67,600,538 (GRCm39) G437V possibly damaging Het
Gm4884 T C 7: 40,693,716 (GRCm39) S562P probably damaging Het
Gm9936 A G 5: 114,995,408 (GRCm39) probably benign Het
Gpn2 C A 4: 133,312,103 (GRCm39) P112T probably damaging Het
Grm4 A G 17: 27,650,549 (GRCm39) Y816H probably benign Het
Helz2 A T 2: 180,882,752 (GRCm39) S14T probably benign Het
Htt T C 5: 34,977,448 (GRCm39) L778P probably benign Het
Il11ra1 T C 4: 41,765,060 (GRCm39) S129P probably damaging Het
Ints11 T C 4: 155,971,625 (GRCm39) F315S probably damaging Het
Itga11 A T 9: 62,683,895 (GRCm39) N1059Y possibly damaging Het
Jak3 A G 8: 72,136,971 (GRCm39) S716G probably damaging Het
Kcns1 G T 2: 164,010,563 (GRCm39) D65E probably benign Het
Kdm5d A T Y: 941,715 (GRCm39) K1305N probably benign Het
Kif26a G T 12: 112,144,314 (GRCm39) V1523L probably benign Het
Mboat7 A G 7: 3,686,821 (GRCm39) S340P probably damaging Het
Mctp2 T C 7: 71,879,156 (GRCm39) I234V probably benign Het
Mex3c G A 18: 73,723,622 (GRCm39) A572T probably benign Het
Mpp3 C A 11: 101,896,251 (GRCm39) R424L probably benign Het
Mroh4 T A 15: 74,480,086 (GRCm39) probably benign Het
Myo9a A T 9: 59,767,489 (GRCm39) probably benign Het
Myog T A 1: 134,217,973 (GRCm39) H60Q probably damaging Het
Nlrp9a T A 7: 26,270,650 (GRCm39) probably null Het
Notch1 A G 2: 26,363,830 (GRCm39) V868A possibly damaging Het
Or10g9b A T 9: 39,917,651 (GRCm39) I198N probably damaging Het
Or1j20 A G 2: 36,760,172 (GRCm39) N198S probably damaging Het
Or1p1 T A 11: 74,179,877 (GRCm39) I135N possibly damaging Het
Or5d18 T C 2: 87,864,610 (GRCm39) Y291C possibly damaging Het
Pink1 T C 4: 138,044,712 (GRCm39) T342A probably benign Het
Plb1 T A 5: 32,506,959 (GRCm39) probably benign Het
Plec T C 15: 76,062,446 (GRCm39) D2524G probably damaging Het
Plekhg4 G T 8: 106,102,028 (GRCm39) E6* probably null Het
Polq T C 16: 36,882,201 (GRCm39) F1455S possibly damaging Het
Ppm1e A G 11: 87,139,884 (GRCm39) probably benign Het
Prkaca G A 8: 84,714,932 (GRCm39) M119I possibly damaging Het
Prss46 G T 9: 110,679,123 (GRCm39) S108I probably damaging Het
Ptma C T 1: 86,457,498 (GRCm39) probably benign Het
Rab11fip4 C T 11: 79,580,479 (GRCm39) T437M probably benign Het
Rngtt T A 4: 33,379,409 (GRCm39) M437K probably benign Het
Rrn3 T A 16: 13,630,977 (GRCm39) D604E possibly damaging Het
Scn4a A G 11: 106,239,231 (GRCm39) probably benign Het
Sis A G 3: 72,817,809 (GRCm39) L1468P possibly damaging Het
Smg5 T C 3: 88,256,540 (GRCm39) S269P probably benign Het
Sntg1 T C 1: 8,533,686 (GRCm39) T323A probably damaging Het
Son C T 16: 91,448,550 (GRCm39) T37I probably damaging Het
Stk17b T C 1: 53,803,291 (GRCm39) I41M probably benign Het
Tgm5 T A 2: 120,907,363 (GRCm39) Y120F probably damaging Het
Tppp A G 13: 74,169,479 (GRCm39) K73R possibly damaging Het
Ttn C A 2: 76,569,502 (GRCm39) K27130N probably damaging Het
Ttn C T 2: 76,738,096 (GRCm39) V4148I probably benign Het
Tut4 T A 4: 108,388,152 (GRCm39) probably benign Het
Uba7 A T 9: 107,855,448 (GRCm39) Y375F probably damaging Het
Ugcg T C 4: 59,213,931 (GRCm39) L171P possibly damaging Het
Vsig2 T C 9: 37,453,872 (GRCm39) probably benign Het
Zfp839 T A 12: 110,834,820 (GRCm39) S692T possibly damaging Het
Other mutations in Slit3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Slit3 APN 11 35,512,981 (GRCm39) missense probably damaging 1.00
IGL01324:Slit3 APN 11 35,501,529 (GRCm39) missense probably damaging 1.00
IGL01612:Slit3 APN 11 35,591,211 (GRCm39) missense possibly damaging 0.95
IGL02145:Slit3 APN 11 35,520,569 (GRCm39) missense probably damaging 0.99
IGL02146:Slit3 APN 11 35,125,675 (GRCm39) missense possibly damaging 0.71
IGL02430:Slit3 APN 11 35,068,601 (GRCm39) splice site probably null
IGL02528:Slit3 APN 11 35,469,801 (GRCm39) missense probably benign
IGL02530:Slit3 APN 11 35,598,969 (GRCm39) makesense probably null
IGL02640:Slit3 APN 11 35,591,172 (GRCm39) missense probably benign 0.10
IGL02819:Slit3 APN 11 35,062,417 (GRCm39) missense possibly damaging 0.71
IGL02839:Slit3 APN 11 35,539,874 (GRCm39) missense possibly damaging 0.46
IGL03150:Slit3 APN 11 35,399,084 (GRCm39) missense possibly damaging 0.88
IGL03161:Slit3 APN 11 35,591,241 (GRCm39) missense probably benign 0.10
IGL03336:Slit3 APN 11 35,560,928 (GRCm39) missense probably damaging 0.97
Bloated UTSW 11 35,524,779 (GRCm39) missense possibly damaging 0.55
Quellung UTSW 11 35,542,647 (GRCm39) critical splice donor site probably null
IGL02988:Slit3 UTSW 11 35,598,890 (GRCm39) missense probably damaging 0.99
PIT4791001:Slit3 UTSW 11 35,552,072 (GRCm39) missense possibly damaging 0.85
R0013:Slit3 UTSW 11 35,598,745 (GRCm39) missense probably benign
R0334:Slit3 UTSW 11 35,469,928 (GRCm39) missense probably damaging 0.97
R0385:Slit3 UTSW 11 35,591,109 (GRCm39) missense probably damaging 0.98
R0840:Slit3 UTSW 11 35,514,263 (GRCm39) splice site probably benign
R1065:Slit3 UTSW 11 35,012,462 (GRCm39) missense possibly damaging 0.86
R1364:Slit3 UTSW 11 35,560,934 (GRCm39) missense probably benign
R1476:Slit3 UTSW 11 35,577,126 (GRCm39) missense probably damaging 0.97
R1508:Slit3 UTSW 11 35,461,448 (GRCm39) missense probably damaging 1.00
R1665:Slit3 UTSW 11 35,125,733 (GRCm39) missense possibly damaging 0.71
R1692:Slit3 UTSW 11 35,550,171 (GRCm39) missense probably damaging 1.00
R1696:Slit3 UTSW 11 35,566,750 (GRCm39) missense probably damaging 0.99
R1727:Slit3 UTSW 11 35,520,659 (GRCm39) missense probably damaging 1.00
R1752:Slit3 UTSW 11 35,455,480 (GRCm39) missense probably damaging 0.98
R1970:Slit3 UTSW 11 35,521,668 (GRCm39) critical splice acceptor site probably null
R2077:Slit3 UTSW 11 35,435,575 (GRCm39) missense possibly damaging 0.88
R2126:Slit3 UTSW 11 35,579,506 (GRCm39) missense probably damaging 1.00
R2143:Slit3 UTSW 11 35,503,088 (GRCm39) splice site probably null
R2162:Slit3 UTSW 11 35,579,509 (GRCm39) missense probably null 1.00
R2873:Slit3 UTSW 11 35,435,620 (GRCm39) nonsense probably null
R3813:Slit3 UTSW 11 35,566,806 (GRCm39) missense probably damaging 1.00
R3831:Slit3 UTSW 11 35,579,509 (GRCm39) missense probably null 1.00
R3832:Slit3 UTSW 11 35,579,509 (GRCm39) missense probably null 1.00
R3833:Slit3 UTSW 11 35,579,509 (GRCm39) missense probably null 1.00
R3839:Slit3 UTSW 11 35,399,064 (GRCm39) missense probably benign 0.10
R4152:Slit3 UTSW 11 35,589,147 (GRCm39) missense probably damaging 0.98
R4387:Slit3 UTSW 11 35,574,875 (GRCm39) missense probably benign 0.12
R4795:Slit3 UTSW 11 35,542,647 (GRCm39) critical splice donor site probably null
R4910:Slit3 UTSW 11 35,523,549 (GRCm39) missense probably damaging 0.99
R4933:Slit3 UTSW 11 35,579,420 (GRCm39) missense probably damaging 1.00
R5048:Slit3 UTSW 11 35,479,812 (GRCm39) missense probably damaging 1.00
R5106:Slit3 UTSW 11 35,503,194 (GRCm39) missense probably damaging 1.00
R5138:Slit3 UTSW 11 35,479,812 (GRCm39) missense probably damaging 1.00
R5218:Slit3 UTSW 11 35,575,002 (GRCm39) critical splice donor site probably null
R5338:Slit3 UTSW 11 35,512,975 (GRCm39) missense probably benign
R5354:Slit3 UTSW 11 35,566,740 (GRCm39) missense probably damaging 1.00
R5436:Slit3 UTSW 11 35,598,738 (GRCm39) missense probably benign 0.05
R5896:Slit3 UTSW 11 35,598,932 (GRCm39) missense probably damaging 0.99
R5933:Slit3 UTSW 11 35,520,578 (GRCm39) missense probably benign 0.04
R5963:Slit3 UTSW 11 35,591,063 (GRCm39) missense probably damaging 1.00
R5964:Slit3 UTSW 11 35,591,063 (GRCm39) missense probably damaging 1.00
R6125:Slit3 UTSW 11 35,461,560 (GRCm39) critical splice donor site probably null
R6153:Slit3 UTSW 11 35,591,310 (GRCm39) missense possibly damaging 0.69
R6484:Slit3 UTSW 11 35,552,125 (GRCm39) missense probably benign
R6526:Slit3 UTSW 11 35,552,119 (GRCm39) missense probably benign 0.33
R6797:Slit3 UTSW 11 35,524,779 (GRCm39) missense possibly damaging 0.55
R6887:Slit3 UTSW 11 35,435,633 (GRCm39) splice site probably null
R7067:Slit3 UTSW 11 35,399,057 (GRCm39) missense probably benign 0.04
R7150:Slit3 UTSW 11 35,461,546 (GRCm39) missense probably damaging 1.00
R7228:Slit3 UTSW 11 35,490,245 (GRCm39) missense probably damaging 1.00
R7232:Slit3 UTSW 11 35,501,516 (GRCm39) missense possibly damaging 0.87
R7418:Slit3 UTSW 11 35,577,255 (GRCm39) missense possibly damaging 0.64
R7545:Slit3 UTSW 11 35,591,139 (GRCm39) missense possibly damaging 0.52
R7727:Slit3 UTSW 11 35,574,871 (GRCm39) missense probably damaging 1.00
R7820:Slit3 UTSW 11 35,591,235 (GRCm39) missense probably benign 0.23
R8177:Slit3 UTSW 11 35,469,919 (GRCm39) missense probably damaging 0.99
R8179:Slit3 UTSW 11 35,554,903 (GRCm39) missense probably benign 0.31
R8416:Slit3 UTSW 11 35,399,062 (GRCm39) missense probably benign 0.08
R8417:Slit3 UTSW 11 35,501,438 (GRCm39) missense probably damaging 0.99
R8476:Slit3 UTSW 11 35,520,596 (GRCm39) missense possibly damaging 0.70
R8785:Slit3 UTSW 11 35,560,968 (GRCm39) missense probably damaging 0.98
R8955:Slit3 UTSW 11 35,589,207 (GRCm39) missense probably damaging 0.97
R9040:Slit3 UTSW 11 35,594,136 (GRCm39) missense probably damaging 0.98
R9068:Slit3 UTSW 11 35,574,917 (GRCm39) missense probably damaging 1.00
R9088:Slit3 UTSW 11 35,012,463 (GRCm39) missense possibly damaging 0.86
R9266:Slit3 UTSW 11 35,598,808 (GRCm39) missense probably damaging 0.98
R9539:Slit3 UTSW 11 35,589,155 (GRCm39) nonsense probably null
R9636:Slit3 UTSW 11 35,594,088 (GRCm39) missense probably damaging 0.97
X0028:Slit3 UTSW 11 35,455,464 (GRCm39) missense probably damaging 0.99
Z1176:Slit3 UTSW 11 35,598,751 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTTGTGTGTCCCAACATGCCC -3'
(R):5'- GAAGACATATTTCCGCCGCTTGC -3'

Sequencing Primer
(F):5'- tccaggggctgctagac -3'
(R):5'- GCTTGCTTCGAATCGGC -3'
Posted On 2013-05-09