Incidental Mutation 'R7172:Slit1'
ID 558388
Institutional Source Beutler Lab
Gene Symbol Slit1
Ensembl Gene ENSMUSG00000025020
Gene Name slit guidance ligand 1
Synonyms Slil1
MMRRC Submission 045264-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7172 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 41588696-41732104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41623105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 644 (L644P)
Ref Sequence ENSEMBL: ENSMUSP00000025993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025993] [ENSMUST00000166496] [ENSMUST00000169141]
AlphaFold Q80TR4
Predicted Effect probably damaging
Transcript: ENSMUST00000025993
AA Change: L644P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: L644P

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: L644P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: L644P

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: L644P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: L644P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (74/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA467197 A T 2: 122,480,238 (GRCm39) Y33F probably damaging Het
Abca4 C T 3: 121,897,189 (GRCm39) Q623* probably null Het
Abcb1a A T 5: 8,752,399 (GRCm39) I457F probably benign Het
Abcb9 G A 5: 124,200,869 (GRCm39) Q716* probably null Het
Abhd15 T C 11: 77,406,122 (GRCm39) V33A probably benign Het
Abl2 A G 1: 156,450,157 (GRCm39) D108G probably damaging Het
Adamts3 G A 5: 90,030,860 (GRCm39) probably benign Het
Atmin G T 8: 117,683,281 (GRCm39) V314L probably damaging Het
Axl G T 7: 25,486,399 (GRCm39) Q102K probably benign Het
Cdhr5 A G 7: 140,851,841 (GRCm39) S488P possibly damaging Het
Cnn1 C A 9: 22,016,790 (GRCm39) A126D probably damaging Het
Col25a1 A T 3: 130,363,981 (GRCm39) K537* probably null Het
Cxcl2 A G 5: 91,051,879 (GRCm39) T26A probably benign Het
Dcc T C 18: 71,511,755 (GRCm39) T887A probably benign Het
Dhx36 T C 3: 62,408,436 (GRCm39) D134G probably benign Het
Dnah17 T A 11: 117,931,957 (GRCm39) K3672* probably null Het
Fadd G T 7: 144,135,908 (GRCm39) H73Q probably benign Het
Fancm A G 12: 65,152,828 (GRCm39) N1095D possibly damaging Het
Fhod3 T C 18: 25,218,603 (GRCm39) S789P probably damaging Het
Glis2 G A 16: 4,431,339 (GRCm39) V289I probably benign Het
Gm17728 A C 17: 9,641,220 (GRCm39) D110A probably damaging Het
Gm9602 T A 14: 15,933,429 (GRCm39) S45T possibly damaging Het
Gpr137 A G 19: 6,917,049 (GRCm39) S161P possibly damaging Het
Gpr89 C T 3: 96,787,385 (GRCm39) probably null Het
Gps2 C T 11: 69,807,262 (GRCm39) T306I probably benign Het
Hmcn1 A G 1: 150,629,450 (GRCm39) Y936H possibly damaging Het
Hoxa5 A G 6: 52,181,276 (GRCm39) Y19H probably damaging Het
Ifit2 G T 19: 34,550,894 (GRCm39) A145S probably benign Het
Impdh2 G T 9: 108,437,809 (GRCm39) C26F probably benign Het
Kcnh6 T C 11: 105,911,100 (GRCm39) Y552H possibly damaging Het
Kcnma1 A T 14: 23,576,691 (GRCm39) M254K probably damaging Het
Klhdc9 A T 1: 171,188,228 (GRCm39) M1K probably null Het
Klk1b11 A T 7: 43,648,671 (GRCm39) D194V possibly damaging Het
Lama1 A G 17: 68,111,540 (GRCm39) I2264V Het
Lmntd2 A G 7: 140,793,554 (GRCm39) S111P unknown Het
Megf8 T C 7: 25,043,092 (GRCm39) L1338P probably damaging Het
Mipol1 G A 12: 57,372,321 (GRCm39) E127K possibly damaging Het
Mmp25 A T 17: 23,863,762 (GRCm39) C23S probably benign Het
Mup8 A T 4: 60,222,425 (GRCm39) C15* probably null Het
Myh2 A T 11: 67,079,527 (GRCm39) T995S probably benign Het
Myo1d C T 11: 80,483,621 (GRCm39) V863I probably benign Het
N4bp1 A G 8: 87,587,052 (GRCm39) probably null Het
Nat10 G T 2: 103,563,314 (GRCm39) P562T probably damaging Het
Nedd9 C G 13: 41,470,280 (GRCm39) R291P probably benign Het
Nlrc3 G T 16: 3,781,617 (GRCm39) H613Q probably benign Het
Ntn1 A T 11: 68,276,493 (GRCm39) C152S probably damaging Het
Or2av9 T A 11: 58,380,571 (GRCm39) I337F unknown Het
Pam A T 1: 97,762,203 (GRCm39) D793E probably benign Het
Patz1 T G 11: 3,258,032 (GRCm39) V631G probably benign Het
Pcdh15 G A 10: 74,338,597 (GRCm39) V1068M probably damaging Het
Pramel17 A G 4: 101,694,193 (GRCm39) V230A probably benign Het
Prmt5 A G 14: 54,752,343 (GRCm39) F151S possibly damaging Het
Pygo2 G A 3: 89,339,943 (GRCm39) V114I probably benign Het
Rabgap1l A T 1: 160,561,156 (GRCm39) S220R probably benign Het
Rdh7 T G 10: 127,724,218 (GRCm39) S89R possibly damaging Het
Rgsl1 A C 1: 153,701,966 (GRCm39) W163G possibly damaging Het
Ryr3 T A 2: 112,492,002 (GRCm39) N3783I probably damaging Het
Shld2 G A 14: 33,959,525 (GRCm39) T819I probably damaging Het
Steap2 A G 5: 5,732,896 (GRCm39) S43P possibly damaging Het
Susd1 A T 4: 59,315,420 (GRCm39) probably null Het
Tbc1d9 A G 8: 83,981,390 (GRCm39) M686V probably damaging Het
Tdrp G A 8: 14,024,579 (GRCm39) R22* probably null Het
Tmem245 A G 4: 56,903,946 (GRCm39) V598A possibly damaging Het
Tnxb A G 17: 34,914,994 (GRCm39) E1994G probably damaging Het
Trcg1 T A 9: 57,155,618 (GRCm39) V757E probably benign Het
Trim10 A G 17: 37,180,955 (GRCm39) E62G possibly damaging Het
Ushbp1 G T 8: 71,841,410 (GRCm39) A473E possibly damaging Het
Vmn1r50 A C 6: 90,084,386 (GRCm39) K44Q possibly damaging Het
Wdr75 A G 1: 45,838,294 (GRCm39) N68D probably damaging Het
Wdr83 A G 8: 85,806,453 (GRCm39) V115A probably damaging Het
Zdhhc17 A G 10: 110,845,809 (GRCm39) L28P possibly damaging Het
Zfp738 C T 13: 67,818,527 (GRCm39) C488Y probably damaging Het
Zfp987 T G 4: 146,058,572 (GRCm39) L50W probably damaging Het
Zfyve28 G T 5: 34,391,753 (GRCm39) R133S probably benign Het
Zscan20 G T 4: 128,479,469 (GRCm39) C1007* probably null 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
R4756:Slit1 UTSW 19 41,637,452 (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
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'- CCAGAAGGACCCATGATTCC -3'
(R):5'- TCGGTCTGAGAAAATGGCCC -3'

Sequencing Primer
(F):5'- GGACCCATGATTCCCCTGAAGATG -3'
(R):5'- CCGAGGCTGGGGACACC -3'
Posted On 2019-06-26