Incidental Mutation 'R3833:Slit3'
ID 275492
Institutional Source Beutler Lab
Gene Symbol Slit3
Ensembl Gene ENSMUSG00000056427
Gene Name slit guidance ligand 3
Synonyms Slit1, b2b2362.1Clo
MMRRC Submission 040888-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R3833 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 35012283-35599334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35579509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 1229 (S1229C)
Ref Sequence ENSEMBL: ENSMUSP00000066857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069837] [ENSMUST00000069837]
AlphaFold Q9WVB4
Predicted Effect probably null
Transcript: ENSMUST00000069837
AA Change: S1229C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066857
Gene: ENSMUSG00000056427
AA Change: S1229C

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
Predicted Effect probably null
Transcript: ENSMUST00000069837
AA Change: S1229C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066857
Gene: ENSMUSG00000056427
AA Change: S1229C

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 0.7421 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 97% (70/72)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik G A 9: 101,820,062 (GRCm39) G161S probably damaging Het
Acp7 T C 7: 28,314,519 (GRCm39) D282G probably benign Het
Atp10d T A 5: 72,396,568 (GRCm39) C258S possibly damaging Het
Atp6ap1 T C X: 73,340,813 (GRCm39) I10T possibly damaging Het
Atp6v0d2 T G 4: 19,922,395 (GRCm39) N35H probably damaging Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Ccn6 T C 10: 39,030,945 (GRCm39) K193E probably benign Het
Ccr1 T C 9: 123,764,324 (GRCm39) T69A possibly damaging Het
Cenpe T G 3: 134,928,083 (GRCm39) probably benign Het
Cps1 G A 1: 67,178,946 (GRCm39) G53R probably damaging Het
Cstb T C 10: 78,263,184 (GRCm39) F70L probably benign Het
Cyb5d2 G T 11: 72,686,349 (GRCm39) S80R possibly damaging Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Cyp8b1 C A 9: 121,745,109 (GRCm39) Q74H probably benign Het
Dennd2a G A 6: 39,483,651 (GRCm39) P403L probably damaging Het
Dennd2a G T 6: 39,483,657 (GRCm39) S401Y probably damaging Het
Dnaaf5 T C 5: 139,167,320 (GRCm39) V447A possibly damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Gcn1 A T 5: 115,730,191 (GRCm39) Q835L probably benign Het
Gtf2b T A 3: 142,477,153 (GRCm39) D8E probably benign Het
Hao1 A T 2: 134,364,925 (GRCm39) V234D probably damaging Het
Hephl1 T C 9: 14,981,044 (GRCm39) E796G probably damaging Het
Herc4 A G 10: 63,081,739 (GRCm39) I21V probably benign Het
Htt T A 5: 34,979,062 (GRCm39) V815D probably benign Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Igsf8 G T 1: 172,145,837 (GRCm39) A315S probably benign Het
Il1a T C 2: 129,148,599 (GRCm39) D37G possibly damaging Het
Iqcb1 T A 16: 36,652,276 (GRCm39) C62* probably null Het
Itgad A T 7: 127,785,405 (GRCm39) T381S probably damaging Het
Itpkb T C 1: 180,161,260 (GRCm39) V462A probably benign Het
Kalrn T A 16: 33,860,259 (GRCm39) R199* probably null Het
Kif24 G T 4: 41,395,064 (GRCm39) A603D probably damaging Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Klrc3 A G 6: 129,620,181 (GRCm39) L24P probably damaging Het
Lmnb1 A C 18: 56,861,598 (GRCm39) D163A probably benign Het
Lrrc9 T C 12: 72,529,765 (GRCm39) L912P probably damaging Het
Mageh1 A T X: 151,820,004 (GRCm39) W111R probably damaging Het
Mapk7 A G 11: 61,380,680 (GRCm39) S641P possibly damaging Het
Mapt A T 11: 104,177,961 (GRCm39) Q38L possibly damaging Het
Med12 C A X: 100,339,498 (GRCm39) P2037Q possibly damaging Het
Med22 A G 2: 26,800,379 (GRCm39) S17P probably damaging Het
Mep1b C T 18: 21,219,296 (GRCm39) T150I possibly damaging Het
Mroh1 C T 15: 76,285,819 (GRCm39) T71I probably benign Het
Nap1l3 A G X: 121,305,995 (GRCm39) V241A possibly damaging Het
Pcdhga6 A T 18: 37,841,479 (GRCm39) N400Y probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P probably damaging Het
Pgap1 A G 1: 54,596,624 (GRCm39) M39T probably damaging Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Phf14 A G 6: 11,933,873 (GRCm39) probably null Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Ppp1r12c T A 7: 4,485,785 (GRCm39) probably benign Het
Pus3 G C 9: 35,477,874 (GRCm39) G369R probably benign Het
Rhbdf2 T A 11: 116,495,250 (GRCm39) D251V probably damaging Het
Rsad1 A G 11: 94,434,130 (GRCm39) V366A probably benign Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scarf1 T C 11: 75,406,078 (GRCm39) C121R probably damaging Het
Scn7a A G 2: 66,528,028 (GRCm39) S821P probably damaging Het
Sco1 T C 11: 66,944,605 (GRCm39) V76A probably damaging Het
Sdsl C A 5: 120,601,183 (GRCm39) A30S probably benign Het
Slc26a6 C T 9: 108,733,117 (GRCm39) T32I possibly damaging Het
Snd1 G T 6: 28,531,403 (GRCm39) probably benign Het
Tdrd3 A G 14: 87,718,221 (GRCm39) T201A probably damaging Het
Tekt1 T C 11: 72,245,645 (GRCm39) N170S probably benign Het
Thsd1 T G 8: 22,733,132 (GRCm39) S60A possibly damaging Het
Tmem121b C T 6: 120,469,841 (GRCm39) G292E probably damaging Het
Trim63 A G 4: 134,048,507 (GRCm39) N172S probably benign Het
Usp24 T C 4: 106,219,209 (GRCm39) probably null Het
Zdhhc16 T A 19: 41,926,553 (GRCm39) probably null Het
Zfp1010 T C 2: 176,956,998 (GRCm39) S167G possibly damaging Het
Zfp709 G A 8: 72,642,906 (GRCm39) V112M 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
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'- CATCTGAAGAGGGTGCTAGG -3'
(R):5'- GTAATGAGGTGTCATCTCCCAC -3'

Sequencing Primer
(F):5'- CTAGGCATGGGTCAGGTGAG -3'
(R):5'- ACATGGGCCTGCCTTCC -3'
Posted On 2015-04-06