Incidental Mutation 'R4756:Slit1'
ID 358057
Institutional Source Beutler Lab
Gene Symbol Slit1
Ensembl Gene ENSMUSG00000025020
Gene Name slit guidance ligand 1
Synonyms Slil1
MMRRC Submission 041972-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4756 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 41588696-41732104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41637452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 329 (F329L)
Ref Sequence ENSEMBL: ENSMUSP00000129034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025993] [ENSMUST00000166496] [ENSMUST00000169141] [ENSMUST00000171586]
AlphaFold Q80TR4
Predicted Effect probably damaging
Transcript: ENSMUST00000025993
AA Change: F329L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: F329L

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
LRRNT 33 65 5.68e-9 SMART
LRR 59 83 4.58e1 SMART
LRR 84 107 4.7e0 SMART
LRR_TYP 108 131 1.95e-3 SMART
LRR 133 155 6.05e0 SMART
LRR 157 179 3.98e1 SMART
LRR_TYP 180 203 3.44e-4 SMART
LRRCT 215 264 3.51e-6 SMART
LRRNT 281 313 3e-8 SMART
LRR 307 331 6.41e1 SMART
LRR_TYP 332 355 8.22e-2 SMART
LRR_TYP 356 379 9.08e-4 SMART
LRR 380 403 2.82e0 SMART
LRR_TYP 404 427 5.42e-2 SMART
LRRCT 439 488 5.78e-7 SMART
LRRNT 512 544 1.04e-7 SMART
LRR_TYP 564 587 3.39e-3 SMART
LRR 589 611 2.08e1 SMART
LRR_TYP 612 635 1.56e-2 SMART
LRR_TYP 636 659 4.11e-2 SMART
LRRCT 671 720 2.89e-7 SMART
LRRNT 733 765 4.87e-8 SMART
LRR 783 806 1.22e1 SMART
LRR_TYP 807 830 9.73e-4 SMART
LRR_TYP 831 854 9.58e-3 SMART
LRRCT 866 915 5.6e-14 SMART
EGF 928 962 5.08e-7 SMART
EGF 967 1003 1.74e-5 SMART
EGF_CA 1005 1041 1.05e-8 SMART
EGF 1046 1081 1.21e-4 SMART
EGF_CA 1083 1119 3.64e-8 SMART
FOLN 1086 1108 8.44e0 SMART
FOLN 1127 1149 1.4e0 SMART
EGF 1127 1160 1.78e-2 SMART
LamG 1183 1319 4.43e-38 SMART
EGF 1338 1371 6.76e-3 SMART
EGF 1377 1410 3.38e-3 SMART
FOLN 1418 1440 2.25e1 SMART
EGF 1418 1451 1.28e-3 SMART
CT 1462 1531 3.15e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166496
AA Change: F329L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: F329L

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
LRRNT 33 65 5.68e-9 SMART
LRR 59 83 4.58e1 SMART
LRR 84 107 4.7e0 SMART
LRR_TYP 108 131 1.95e-3 SMART
LRR 133 155 6.05e0 SMART
LRR 157 179 3.98e1 SMART
LRR_TYP 180 203 3.44e-4 SMART
LRRCT 215 264 3.51e-6 SMART
LRRNT 281 313 3e-8 SMART
LRR 307 331 6.41e1 SMART
LRR_TYP 332 355 8.22e-2 SMART
LRR_TYP 356 379 9.08e-4 SMART
LRR 380 403 2.82e0 SMART
LRR_TYP 404 427 5.42e-2 SMART
LRRCT 439 488 5.78e-7 SMART
LRRNT 512 544 1.04e-7 SMART
LRR_TYP 564 587 3.39e-3 SMART
LRR 589 611 2.08e1 SMART
LRR_TYP 612 635 1.56e-2 SMART
LRR_TYP 636 659 4.11e-2 SMART
LRRCT 671 720 2.89e-7 SMART
LRRNT 733 765 4.87e-8 SMART
LRR 783 806 1.22e1 SMART
LRR_TYP 807 830 9.73e-4 SMART
LRR_TYP 831 854 9.58e-3 SMART
LRRCT 866 915 5.6e-14 SMART
EGF 928 962 5.08e-7 SMART
EGF 967 1003 1.74e-5 SMART
EGF_CA 1005 1041 1.05e-8 SMART
EGF 1046 1081 1.21e-4 SMART
EGF_CA 1083 1119 3.64e-8 SMART
FOLN 1086 1108 8.44e0 SMART
FOLN 1127 1149 1.4e0 SMART
EGF 1127 1160 1.78e-2 SMART
LamG 1183 1319 4.43e-38 SMART
EGF 1338 1371 6.76e-3 SMART
EGF 1377 1410 3.38e-3 SMART
low complexity region 1437 1458 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169141
AA Change: F329L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: F329L

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
LRRNT 33 65 5.68e-9 SMART
LRR 59 83 4.58e1 SMART
LRR 84 107 4.7e0 SMART
LRR_TYP 108 131 1.95e-3 SMART
LRR 133 155 6.05e0 SMART
LRR 157 179 3.98e1 SMART
LRR_TYP 180 203 3.44e-4 SMART
LRRCT 215 264 3.51e-6 SMART
LRRNT 281 313 3e-8 SMART
LRR 307 331 6.41e1 SMART
LRR_TYP 332 355 8.22e-2 SMART
LRR_TYP 356 379 9.08e-4 SMART
LRR 380 403 2.82e0 SMART
LRR_TYP 404 427 5.42e-2 SMART
LRRCT 439 488 5.78e-7 SMART
LRRNT 512 544 1.04e-7 SMART
LRR_TYP 564 587 3.39e-3 SMART
LRR 589 611 2.08e1 SMART
LRR_TYP 612 635 1.56e-2 SMART
LRR_TYP 636 659 4.11e-2 SMART
LRRCT 671 720 2.89e-7 SMART
LRRNT 733 765 4.87e-8 SMART
LRR 783 806 1.22e1 SMART
LRR_TYP 807 830 9.73e-4 SMART
LRR_TYP 831 854 9.58e-3 SMART
LRRCT 866 915 5.6e-14 SMART
EGF 928 962 5.08e-7 SMART
EGF 967 1003 1.74e-5 SMART
EGF_CA 1005 1041 1.05e-8 SMART
EGF 1046 1081 1.21e-4 SMART
EGF_CA 1083 1119 3.64e-8 SMART
FOLN 1086 1108 8.44e0 SMART
FOLN 1127 1149 1.4e0 SMART
EGF 1127 1160 1.78e-2 SMART
LamG 1183 1319 4.43e-38 SMART
EGF 1338 1371 6.76e-3 SMART
EGF 1377 1410 3.38e-3 SMART
FOLN 1418 1440 2.25e1 SMART
EGF 1418 1451 1.28e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171586
AA Change: F305L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126139
Gene: ENSMUSG00000025020
AA Change: F305L

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
LRRNT 33 65 5.68e-9 SMART
LRR 59 83 4.58e1 SMART
LRR 84 107 4.7e0 SMART
LRR_TYP 108 131 2.24e-3 SMART
LRR 133 155 3.98e1 SMART
LRR_TYP 156 179 3.44e-4 SMART
LRRCT 191 240 3.51e-6 SMART
LRRNT 257 289 3e-8 SMART
LRR 283 307 6.41e1 SMART
LRR_TYP 308 331 8.22e-2 SMART
LRR_TYP 332 355 9.08e-4 SMART
LRR 356 379 2.82e0 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a reporter allele exhibit normal interneuron numbers and morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,336,830 (GRCm39) M45L probably benign Het
Acss2 T C 2: 155,403,063 (GRCm39) F627L probably damaging Het
Akap8 A G 17: 32,535,184 (GRCm39) S277P probably damaging Het
Akap9 T A 5: 4,051,418 (GRCm39) M1395K probably damaging Het
Ank1 A G 8: 23,612,893 (GRCm39) D1468G probably benign Het
Apoe A G 7: 19,430,846 (GRCm39) V121A probably benign Het
Aqp9 A T 9: 71,070,331 (GRCm39) L12H probably damaging Het
Atp2b4 G A 1: 133,639,529 (GRCm39) A1115V probably benign Het
Atp2b4 G A 1: 133,667,134 (GRCm39) P139L probably benign Het
B430218F22Rik T C 13: 118,523,980 (GRCm39) probably benign Het
Bltp2 T A 11: 78,154,854 (GRCm39) L122H probably damaging Het
Brsk1 A G 7: 4,711,866 (GRCm39) E572G possibly damaging Het
C6 T C 15: 4,811,394 (GRCm39) I414T probably benign Het
C8b T A 4: 104,644,083 (GRCm39) M250K probably benign Het
Camk1g T A 1: 193,044,393 (GRCm39) E7V probably benign Het
Clcc1 A G 3: 108,580,236 (GRCm39) probably null Het
Col4a3 G T 1: 82,694,018 (GRCm39) probably null Het
Cox5b T A 1: 36,732,310 (GRCm39) W104R probably damaging Het
Cyp2c55 A C 19: 39,019,815 (GRCm39) H251P probably damaging Het
Cyp2c67 G A 19: 39,632,188 (GRCm39) T60I probably benign Het
Defb42 T A 14: 63,285,824 (GRCm39) V68E probably benign Het
Ercc4 T A 16: 12,941,287 (GRCm39) I225N probably damaging Het
Fam120b G T 17: 15,622,658 (GRCm39) C212F probably damaging Het
Fgf10 T C 13: 118,918,045 (GRCm39) V111A probably benign Het
Fn1 G T 1: 71,629,967 (GRCm39) T2186K probably damaging Het
Fras1 T C 5: 96,929,518 (GRCm39) V3974A probably benign Het
Galnt4 T C 10: 98,944,362 (GRCm39) V29A probably benign Het
Gpr26 T C 7: 131,569,230 (GRCm39) Y192H probably damaging Het
Heatr9 A T 11: 83,407,475 (GRCm39) L236Q probably damaging Het
Hivep3 C A 4: 119,955,020 (GRCm39) P1112H probably damaging Het
Hnf4g A G 3: 3,708,069 (GRCm39) Y106C possibly damaging Het
Hnrnpdl A T 5: 100,185,783 (GRCm39) Y69* probably null Het
Itgb1 G A 8: 129,443,703 (GRCm39) A320T probably damaging Het
Kcna2 T C 3: 107,012,733 (GRCm39) I438T probably benign Het
Kif24 A G 4: 41,397,545 (GRCm39) probably null Het
Klhl1 G A 14: 96,389,402 (GRCm39) T584I probably benign Het
Ltbp1 A G 17: 75,532,199 (GRCm39) D91G probably damaging Het
Mdga2 T C 12: 66,844,427 (GRCm39) I190M probably damaging Het
Meis2 G A 2: 115,830,686 (GRCm39) R276C probably damaging Het
Mob4 C T 1: 55,191,855 (GRCm39) R190W probably damaging Het
Mrgpra2a A G 7: 47,077,114 (GRCm39) I48T possibly damaging Het
Mst1 T C 9: 107,960,826 (GRCm39) V481A probably benign Het
Mttp A T 3: 137,821,832 (GRCm39) V245E possibly damaging Het
Nbn T A 4: 15,981,470 (GRCm39) S521T probably benign Het
Neb G T 2: 52,083,243 (GRCm39) T5654N probably damaging Het
Nlrp9a A T 7: 26,256,866 (GRCm39) K161N probably damaging Het
Nod2 T G 8: 89,390,902 (GRCm39) F388C possibly damaging Het
Or3a1 G T 11: 74,225,402 (GRCm39) F218L probably benign Het
Or4a75 G T 2: 89,447,814 (GRCm39) H241N possibly damaging Het
Or4f58 A G 2: 111,851,332 (GRCm39) F289S possibly damaging Het
Or52e2 A T 7: 102,804,332 (GRCm39) N207K probably benign Het
Or7a38 T A 10: 78,753,361 (GRCm39) I229N probably damaging Het
Or7g25 G A 9: 19,160,153 (GRCm39) L181F possibly damaging Het
P2ry1 A G 3: 60,911,898 (GRCm39) S346G probably benign Het
Polr1f T A 12: 33,487,679 (GRCm39) probably null Het
Prkcd A G 14: 30,321,623 (GRCm39) F524L probably benign Het
Qrfprl T C 6: 65,429,898 (GRCm39) I198T probably benign Het
Ramp3 A T 11: 6,624,843 (GRCm39) M46L probably benign Het
Rint1 T C 5: 24,014,791 (GRCm39) Y278H probably damaging Het
Skint11 C T 4: 114,051,874 (GRCm39) T74I probably benign Het
Slc10a7 T C 8: 79,433,579 (GRCm39) probably null Het
Slc45a2 T A 15: 11,028,016 (GRCm39) Y528* probably null Het
Sltm A T 9: 70,498,892 (GRCm39) M989L possibly damaging Het
Smad9 A T 3: 54,701,874 (GRCm39) T372S possibly damaging Het
Snrpc T A 17: 28,061,306 (GRCm39) Y38* probably null Het
Spag17 A G 3: 100,010,701 (GRCm39) K2065R possibly damaging Het
Stxbp4 T A 11: 90,498,197 (GRCm39) K87N probably damaging Het
Tbc1d23 AT ATT 16: 57,019,258 (GRCm39) probably null Het
Tgfb1i1 A T 7: 127,848,571 (GRCm39) M96L probably damaging Het
Tnc T A 4: 63,885,580 (GRCm39) I1841F probably damaging Het
Ubap2 G T 4: 41,211,771 (GRCm39) H63Q probably damaging Het
Vps13a T C 19: 16,632,580 (GRCm39) N2592S probably benign Het
Xdh G A 17: 74,193,381 (GRCm39) P1305L probably benign Het
Xrn1 G A 9: 95,921,862 (GRCm39) R1425K probably benign Het
Zfp418 G A 7: 7,185,762 (GRCm39) R575Q possibly damaging Het
Zfp608 T A 18: 55,027,544 (GRCm39) Q1424H probably damaging Het
Zfp839 C A 12: 110,821,635 (GRCm39) L150I possibly damaging Het
Other mutations in Slit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Slit1 APN 19 41,639,274 (GRCm39) missense probably damaging 1.00
IGL00515:Slit1 APN 19 41,612,940 (GRCm39) missense probably damaging 0.97
IGL00909:Slit1 APN 19 41,590,694 (GRCm39) missense possibly damaging 0.89
IGL00953:Slit1 APN 19 41,590,739 (GRCm39) missense probably damaging 1.00
IGL01116:Slit1 APN 19 41,594,824 (GRCm39) missense possibly damaging 0.93
IGL01457:Slit1 APN 19 41,599,483 (GRCm39) missense probably damaging 1.00
IGL01688:Slit1 APN 19 41,717,545 (GRCm39) missense probably damaging 1.00
IGL01720:Slit1 APN 19 41,622,653 (GRCm39) missense probably benign 0.01
IGL01925:Slit1 APN 19 41,596,817 (GRCm39) missense probably damaging 0.98
IGL02008:Slit1 APN 19 41,634,579 (GRCm39) missense probably damaging 0.99
IGL02312:Slit1 APN 19 41,590,119 (GRCm39) missense possibly damaging 0.66
IGL02398:Slit1 APN 19 41,590,676 (GRCm39) missense probably damaging 1.00
IGL02542:Slit1 APN 19 41,615,687 (GRCm39) missense probably damaging 1.00
IGL02559:Slit1 APN 19 41,709,524 (GRCm39) missense probably benign 0.01
IGL02609:Slit1 APN 19 41,590,743 (GRCm39) missense probably damaging 0.99
IGL02623:Slit1 APN 19 41,640,122 (GRCm39) missense probably damaging 0.98
IGL02729:Slit1 APN 19 41,591,773 (GRCm39) missense probably damaging 1.00
IGL03230:Slit1 APN 19 41,717,524 (GRCm39) missense probably damaging 1.00
IGL03387:Slit1 APN 19 41,591,881 (GRCm39) missense possibly damaging 0.57
PIT4576001:Slit1 UTSW 19 41,612,988 (GRCm39) missense possibly damaging 0.52
R0366:Slit1 UTSW 19 41,599,470 (GRCm39) missense probably damaging 1.00
R0432:Slit1 UTSW 19 41,731,732 (GRCm39) missense probably damaging 0.98
R0496:Slit1 UTSW 19 41,596,750 (GRCm39) splice site probably benign
R0722:Slit1 UTSW 19 41,596,874 (GRCm39) missense probably damaging 1.00
R1468:Slit1 UTSW 19 41,596,823 (GRCm39) missense probably damaging 1.00
R1468:Slit1 UTSW 19 41,596,823 (GRCm39) missense probably damaging 1.00
R1488:Slit1 UTSW 19 41,596,824 (GRCm39) missense probably damaging 1.00
R1615:Slit1 UTSW 19 41,639,110 (GRCm39) splice site probably benign
R1694:Slit1 UTSW 19 41,626,031 (GRCm39) missense possibly damaging 0.69
R1762:Slit1 UTSW 19 41,591,774 (GRCm39) missense probably damaging 1.00
R1842:Slit1 UTSW 19 41,709,477 (GRCm39) critical splice donor site probably null
R1844:Slit1 UTSW 19 41,614,012 (GRCm39) missense probably damaging 1.00
R1940:Slit1 UTSW 19 41,619,215 (GRCm39) missense probably damaging 1.00
R2087:Slit1 UTSW 19 41,625,922 (GRCm39) missense probably benign 0.00
R2094:Slit1 UTSW 19 41,594,819 (GRCm39) missense probably damaging 0.99
R2095:Slit1 UTSW 19 41,594,819 (GRCm39) missense probably damaging 0.99
R2104:Slit1 UTSW 19 41,590,686 (GRCm39) missense possibly damaging 0.69
R2305:Slit1 UTSW 19 41,599,455 (GRCm39) missense probably benign 0.03
R2972:Slit1 UTSW 19 41,599,455 (GRCm39) missense probably benign 0.03
R2973:Slit1 UTSW 19 41,599,455 (GRCm39) missense probably benign 0.03
R2974:Slit1 UTSW 19 41,599,455 (GRCm39) missense probably benign 0.03
R3159:Slit1 UTSW 19 41,592,812 (GRCm39) missense probably benign
R3752:Slit1 UTSW 19 41,635,406 (GRCm39) critical splice donor site probably null
R4095:Slit1 UTSW 19 41,596,925 (GRCm39) intron probably benign
R4282:Slit1 UTSW 19 41,602,856 (GRCm39) missense probably benign
R4417:Slit1 UTSW 19 41,602,908 (GRCm39) missense probably damaging 1.00
R4607:Slit1 UTSW 19 41,605,232 (GRCm39) missense probably benign 0.10
R4729:Slit1 UTSW 19 41,635,459 (GRCm39) missense probably damaging 1.00
R4764:Slit1 UTSW 19 41,709,483 (GRCm39) nonsense probably null
R4849:Slit1 UTSW 19 41,637,983 (GRCm39) missense probably benign 0.17
R4874:Slit1 UTSW 19 41,717,493 (GRCm39) critical splice donor site probably null
R5581:Slit1 UTSW 19 41,605,102 (GRCm39) critical splice donor site probably null
R5699:Slit1 UTSW 19 41,613,959 (GRCm39) critical splice donor site probably null
R5888:Slit1 UTSW 19 41,731,735 (GRCm39) missense probably damaging 1.00
R5906:Slit1 UTSW 19 41,594,813 (GRCm39) missense probably damaging 1.00
R6176:Slit1 UTSW 19 41,626,034 (GRCm39) missense probably damaging 1.00
R6277:Slit1 UTSW 19 41,588,948 (GRCm39) missense possibly damaging 0.81
R6702:Slit1 UTSW 19 41,603,309 (GRCm39) missense possibly damaging 0.95
R6860:Slit1 UTSW 19 41,605,154 (GRCm39) missense probably benign 0.10
R7015:Slit1 UTSW 19 41,618,325 (GRCm39) nonsense probably null
R7172:Slit1 UTSW 19 41,623,105 (GRCm39) missense probably damaging 1.00
R7512:Slit1 UTSW 19 41,589,074 (GRCm39) missense probably damaging 1.00
R7568:Slit1 UTSW 19 41,590,074 (GRCm39) missense probably damaging 1.00
R7614:Slit1 UTSW 19 41,622,639 (GRCm39) missense probably damaging 1.00
R7650:Slit1 UTSW 19 41,618,363 (GRCm39) missense probably damaging 1.00
R7687:Slit1 UTSW 19 41,639,128 (GRCm39) missense probably benign 0.03
R7732:Slit1 UTSW 19 41,592,847 (GRCm39) missense probably benign 0.01
R7947:Slit1 UTSW 19 41,599,248 (GRCm39) missense probably benign
R7947:Slit1 UTSW 19 41,599,247 (GRCm39) missense probably damaging 1.00
R8171:Slit1 UTSW 19 41,715,512 (GRCm39) missense probably damaging 0.97
R8217:Slit1 UTSW 19 41,612,959 (GRCm39) missense possibly damaging 0.60
R8355:Slit1 UTSW 19 41,634,473 (GRCm39) missense probably damaging 1.00
R9025:Slit1 UTSW 19 41,612,968 (GRCm39) missense probably benign 0.01
R9124:Slit1 UTSW 19 41,594,951 (GRCm39) missense probably benign 0.02
R9288:Slit1 UTSW 19 41,613,144 (GRCm39) intron probably benign
R9343:Slit1 UTSW 19 41,615,737 (GRCm39) missense probably damaging 1.00
R9435:Slit1 UTSW 19 41,591,764 (GRCm39) critical splice donor site probably null
R9563:Slit1 UTSW 19 41,596,874 (GRCm39) missense probably damaging 1.00
R9564:Slit1 UTSW 19 41,591,861 (GRCm39) missense probably benign 0.16
R9595:Slit1 UTSW 19 41,637,851 (GRCm39) missense probably damaging 1.00
R9667:Slit1 UTSW 19 41,731,832 (GRCm39) nonsense probably null
X0023:Slit1 UTSW 19 41,590,079 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGCAGCTTCGAACATGAGCC -3'
(R):5'- GGGGCTCAAATCACAGCATG -3'

Sequencing Primer
(F):5'- CATGAGCCAGGCTTGAACTTG -3'
(R):5'- GTGTCCATCTCCTTAACAAACATTGG -3'
Posted On 2015-11-11