Incidental Mutation 'R8177:Slit3'
ID 634430
Institutional Source Beutler Lab
Gene Symbol Slit3
Ensembl Gene ENSMUSG00000056427
Gene Name slit guidance ligand 3
Synonyms Slit1, b2b2362.1Clo
MMRRC Submission 067602-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R8177 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 35012283-35599334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35469919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 307 (E307G)
Ref Sequence ENSEMBL: ENSMUSP00000066857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069837]
AlphaFold Q9WVB4
Predicted Effect probably damaging
Transcript: ENSMUST00000069837
AA Change: E307G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066857
Gene: ENSMUSG00000056427
AA Change: E307G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,439,174 (GRCm39) Y127* probably null Het
Abcb5 C T 12: 118,836,525 (GRCm39) V1129I possibly damaging Het
Abcc2 A G 19: 43,795,519 (GRCm39) D425G probably damaging Het
Adamts15 T A 9: 30,833,322 (GRCm39) D71V probably damaging Het
Add1 A G 5: 34,774,049 (GRCm39) H435R possibly damaging Het
Akr1c19 A G 13: 4,292,591 (GRCm39) N204S probably benign Het
Ankub1 C A 3: 57,597,837 (GRCm39) R44S possibly damaging Het
Ano3 T A 2: 110,496,801 (GRCm39) N783Y probably damaging Het
Bbs9 A G 9: 22,425,359 (GRCm39) M138V probably benign Het
Ccdc18 G A 5: 108,345,661 (GRCm39) E936K possibly damaging Het
Cit T G 5: 116,126,218 (GRCm39) L1604V probably benign Het
Col2a1 T A 15: 97,874,654 (GRCm39) S1396C unknown Het
Col3a1 G C 1: 45,374,924 (GRCm39) G653R unknown Het
Col6a1 T C 10: 76,560,863 (GRCm39) E45G probably damaging Het
Col9a3 T A 2: 180,249,450 (GRCm39) F271I probably damaging Het
Cyp2g1 C A 7: 26,518,578 (GRCm39) D364E probably damaging Het
Dmbt1 T A 7: 130,708,162 (GRCm39) V1457D possibly damaging Het
Dnah17 A T 11: 118,019,753 (GRCm39) I98N possibly damaging Het
Dyrk1b T A 7: 27,882,601 (GRCm39) M222K possibly damaging Het
Epha8 T C 4: 136,672,974 (GRCm39) D270G probably benign Het
Fbxw17 T C 13: 50,579,660 (GRCm39) L159P probably damaging Het
Fgl2 G A 5: 21,578,307 (GRCm39) probably null Het
Fmnl1 A T 11: 103,080,785 (GRCm39) M309L probably damaging Het
Fn1 T C 1: 71,648,746 (GRCm39) I1479V probably benign Het
Gm11939 A T 11: 99,450,124 (GRCm39) S57T possibly damaging Het
Gm9195 C T 14: 72,697,977 (GRCm39) A1268T possibly damaging Het
Gnpda1 A G 18: 38,466,348 (GRCm39) W90R possibly damaging Het
Igkv5-43 T A 6: 69,800,445 (GRCm39) R81W probably damaging Het
Mapk3 T A 7: 126,362,937 (GRCm39) W230R probably null Het
Mplkip A G 13: 17,870,205 (GRCm39) S46G probably benign Het
Mrs2 T C 13: 25,188,961 (GRCm39) T118A probably benign Het
Mst1r T A 9: 107,784,784 (GRCm39) H147Q probably damaging Het
Muc5ac G C 7: 141,361,068 (GRCm39) G1460R probably damaging Het
Myorg G T 4: 41,497,568 (GRCm39) Y687* probably null Het
Naip1 T C 13: 100,563,911 (GRCm39) H418R probably benign Het
Ncapg A G 5: 45,851,095 (GRCm39) T763A probably benign Het
Nr6a1 T C 2: 38,619,510 (GRCm39) I462V probably benign Het
Nudcd3 T C 11: 6,143,460 (GRCm39) D70G possibly damaging Het
Nup210 A G 6: 90,991,470 (GRCm39) S1858P probably benign Het
Or12e13 T A 2: 87,663,512 (GRCm39) I43N probably benign Het
Or5aq1 C A 2: 86,966,294 (GRCm39) V124L possibly damaging Het
Or6a2 G C 7: 106,600,663 (GRCm39) L135V probably damaging Het
Or6c205 A G 10: 129,086,790 (GRCm39) H129R probably benign Het
Or8k33 T A 2: 86,383,623 (GRCm39) I282F noncoding transcript Het
Pde4dip T C 3: 97,674,848 (GRCm39) T23A probably damaging Het
Pex6 A G 17: 47,024,988 (GRCm39) Q347R probably benign Het
Rbm27 A G 18: 42,457,175 (GRCm39) K694R probably damaging Het
Rnf40 T G 7: 127,195,322 (GRCm39) D549E probably benign Het
Rpl22 A G 4: 152,411,968 (GRCm39) K15E probably damaging Het
Rsph6a T A 7: 18,808,164 (GRCm39) D697E unknown Het
Sec23b C T 2: 144,427,543 (GRCm39) P590L probably benign Het
Semp2l1 T C 1: 32,585,457 (GRCm39) E151G probably benign Het
Slc17a7 T A 7: 44,824,356 (GRCm39) M524K probably benign Het
Slc28a1 G A 7: 80,814,164 (GRCm39) D454N probably benign Het
Slc6a13 C T 6: 121,301,987 (GRCm39) R190* probably null Het
Slc7a9 G A 7: 35,155,558 (GRCm39) V257I probably benign Het
Slco1a6 T A 6: 142,047,460 (GRCm39) M377L probably damaging Het
Smchd1 A G 17: 71,697,448 (GRCm39) M1164T probably benign Het
Stk4 T C 2: 163,930,777 (GRCm39) I126T probably damaging Het
Syndig1 A T 2: 149,741,788 (GRCm39) S125C probably damaging Het
Synm T C 7: 67,383,813 (GRCm39) D1283G probably benign Het
Tmprss6 T C 15: 78,349,327 (GRCm39) M73V probably benign Het
Tmprss9 A G 10: 80,730,882 (GRCm39) I803V probably benign Het
Tmx4 A T 2: 134,485,822 (GRCm39) V35E probably damaging Het
Topbp1 T G 9: 103,197,740 (GRCm39) S440A probably benign Het
Twf1 T C 15: 94,482,276 (GRCm39) I157V possibly damaging Het
Vmn1r205 T C 13: 22,776,415 (GRCm39) N229S probably benign Het
Vmn1r27 T A 6: 58,192,759 (GRCm39) I82L probably benign Het
Vmn2r112 A G 17: 22,822,594 (GRCm39) N424S possibly damaging Het
Vmn2r68 A T 7: 84,871,422 (GRCm39) Y620* probably null Het
Zfp51 A G 17: 21,684,129 (GRCm39) D248G probably benign 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
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
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'- TCAAGCTGCATCTTGGGAAG -3'
(R):5'- CTACACTCTTGACAACTAGGCTG -3'

Sequencing Primer
(F):5'- CTGCATCTTGGGAAGCGAATC -3'
(R):5'- TCTTGACAACTAGGCTGAAGAAAAC -3'
Posted On 2020-07-13