Incidental Mutation 'R2104:Slit1'
ID 230831
Institutional Source Beutler Lab
Gene Symbol Slit1
Ensembl Gene ENSMUSG00000025020
Gene Name slit guidance ligand 1
Synonyms Slil1
MMRRC Submission 040108-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2104 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 41588696-41732104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41590686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1329 (K1329E)
Ref Sequence ENSEMBL: ENSMUSP00000129034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025993] [ENSMUST00000166496] [ENSMUST00000169141]
AlphaFold Q80TR4
Predicted Effect possibly damaging
Transcript: ENSMUST00000025993
AA Change: K1329E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: K1329E

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 possibly damaging
Transcript: ENSMUST00000166496
AA Change: K1329E

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: K1329E

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 possibly damaging
Transcript: ENSMUST00000169141
AA Change: K1329E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: K1329E

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 noncoding transcript
Transcript: ENSMUST00000169416
Meta Mutation Damage Score 0.1214 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 G A 7: 119,383,527 (GRCm39) V563I probably benign Het
Amer3 T C 1: 34,627,759 (GRCm39) V666A probably benign Het
Ankrd16 A G 2: 11,784,711 (GRCm39) probably benign Het
Ankub1 G T 3: 57,580,296 (GRCm39) C120* probably null Het
Arhgap31 T C 16: 38,445,941 (GRCm39) I135V probably benign Het
Atp2c2 G A 8: 120,476,584 (GRCm39) G633D probably benign Het
Camta1 T A 4: 151,537,751 (GRCm39) Q143L probably damaging Het
Casp8ap2 T C 4: 32,644,727 (GRCm39) S1267P probably benign Het
Ccn4 A G 15: 66,791,176 (GRCm39) E326G probably benign Het
Cdh1 T A 8: 107,380,391 (GRCm39) probably benign Het
Cdhr4 C A 9: 107,873,460 (GRCm39) D397E probably damaging Het
Cdk6 T G 5: 3,394,387 (GRCm39) S7R probably benign Het
Cert1 T A 13: 96,771,394 (GRCm39) N550K probably damaging Het
Cilp2 C A 8: 70,335,442 (GRCm39) E519* probably null Het
Clybl A G 14: 122,548,718 (GRCm39) Y40C probably damaging Het
Ctnnal1 T C 4: 56,812,329 (GRCm39) *732W probably null Het
Ctns A T 11: 73,083,907 (GRCm39) S38R probably benign Het
Cwh43 A T 5: 73,578,873 (GRCm39) K293N possibly damaging Het
Dcaf5 G T 12: 80,385,635 (GRCm39) D830E probably benign Het
Dmxl2 A G 9: 54,322,848 (GRCm39) V1512A probably damaging Het
Dnah9 A T 11: 65,951,950 (GRCm39) C1850S probably damaging Het
Dpp8 C T 9: 64,981,849 (GRCm39) probably null Het
Enam A T 5: 88,649,646 (GRCm39) Q385L probably damaging Het
Etv3 A G 3: 87,443,369 (GRCm39) T318A possibly damaging Het
Exd2 T G 12: 80,543,575 (GRCm39) I586S probably benign Het
Fat3 A G 9: 15,909,813 (GRCm39) V2063A possibly damaging Het
Fezf1 A G 6: 23,247,331 (GRCm39) F248S possibly damaging Het
Flnc T C 6: 29,450,734 (GRCm39) probably null Het
Foxc2 A G 8: 121,844,819 (GRCm39) Y489C probably damaging Het
Gfm2 A G 13: 97,308,028 (GRCm39) E540G probably damaging Het
Hrg T C 16: 22,774,949 (GRCm39) I193T probably benign Het
Ifih1 G A 2: 62,440,889 (GRCm39) Q426* probably null Het
Ifit1bl2 T A 19: 34,596,920 (GRCm39) D232V probably benign Het
Igf2bp1 A G 11: 95,866,122 (GRCm39) V122A probably damaging Het
Inpp1 T G 1: 52,838,577 (GRCm39) Q24P probably damaging Het
Kifc2 A G 15: 76,545,454 (GRCm39) D67G probably damaging Het
Lrrc43 G A 5: 123,639,177 (GRCm39) G402D probably benign Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mab21l3 G T 3: 101,730,744 (GRCm39) A165D probably benign Het
Mcub T A 3: 129,712,337 (GRCm39) R179S probably benign Het
Mdfi G C 17: 48,135,562 (GRCm39) A56G possibly damaging Het
Mdn1 A T 4: 32,743,843 (GRCm39) probably null Het
Meox2 A G 12: 37,217,476 (GRCm39) T226A probably damaging Het
Mipol1 A G 12: 57,352,842 (GRCm39) probably null Het
Mms22l T G 4: 24,591,084 (GRCm39) N1018K probably benign Het
Mn1 T C 5: 111,602,617 (GRCm39) I1285T possibly damaging Het
Muc20 T G 16: 32,614,547 (GRCm39) S277R probably damaging Het
Muc6 C A 7: 141,213,991 (GRCm39) V2845L probably benign Het
Mup5 C A 4: 61,751,962 (GRCm39) G96C probably damaging Het
Neb T A 2: 52,146,826 (GRCm39) M2813L probably benign Het
Neb C A 2: 52,161,570 (GRCm39) R2074L probably damaging Het
Oasl2 A T 5: 115,049,063 (GRCm39) K168* probably null Het
Or6c5 T C 10: 129,074,368 (GRCm39) S117P probably damaging Het
P2rx2 C T 5: 110,489,007 (GRCm39) D203N probably damaging Het
Ptprg T C 14: 11,952,897 (GRCm38) probably null Het
Rims4 C T 2: 163,706,785 (GRCm39) probably null Het
Rtn4ip1 T A 10: 43,808,402 (GRCm39) W60R probably benign Het
Sccpdh T C 1: 179,498,162 (GRCm39) S69P probably benign Het
Serpina3b T A 12: 104,105,069 (GRCm39) I415N probably benign Het
Slc22a4 T C 11: 53,874,436 (GRCm39) probably benign Het
Slc4a5 G A 6: 83,274,360 (GRCm39) A1076T probably benign Het
Synj2bp A C 12: 81,548,826 (GRCm39) F138V probably benign Het
Taar7a T C 10: 23,868,959 (GRCm39) I141V probably damaging Het
Tas1r3 T C 4: 155,946,588 (GRCm39) E339G probably benign Het
Tep1 A G 14: 51,088,037 (GRCm39) probably benign Het
Tgds A T 14: 118,359,149 (GRCm39) Y146* probably null Het
Tgm3 G A 2: 129,879,403 (GRCm39) V332I probably benign Het
Tnnt2 A G 1: 135,771,547 (GRCm39) probably benign Het
Top1 T A 2: 160,546,739 (GRCm39) Y340N probably damaging Het
Topbp1 T C 9: 103,195,181 (GRCm39) probably benign Het
Tpst1 A G 5: 130,131,202 (GRCm39) N224S probably benign Het
Traf4 A G 11: 78,050,840 (GRCm39) F439L probably damaging Het
Trim58 A G 11: 58,533,964 (GRCm39) probably benign Het
Tspan31 T C 10: 126,904,004 (GRCm39) N205S probably damaging Het
Ube3a T A 7: 58,926,225 (GRCm39) N334K possibly damaging Het
Ugt2a3 A T 5: 87,477,541 (GRCm39) probably null Het
Vwf G A 6: 125,623,293 (GRCm39) V1797I probably benign Het
Wdr81 G T 11: 75,343,809 (GRCm39) P486Q probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Yipf7 T A 5: 69,678,462 (GRCm39) N56I possibly damaging Het
Zfp523 A T 17: 28,414,190 (GRCm39) T75S probably benign 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
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
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'- CCATAAGTAAGTGGGGCTTGC -3'
(R):5'- ATGTCCTAGTCCCAACTTAGCC -3'

Sequencing Primer
(F):5'- GGATGGCTCTCTTGGTCCATC -3'
(R):5'- AGTCCCAACTTAGCCTACTATTTC -3'
Posted On 2014-09-18