Incidental Mutation 'R4282:Slit1'
ID 322970
Institutional Source Beutler Lab
Gene Symbol Slit1
Ensembl Gene ENSMUSG00000025020
Gene Name slit guidance ligand 1
Synonyms Slil1
MMRRC Submission 041650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4282 (G1)
Quality Score 213
Status Validated
Chromosome 19
Chromosomal Location 41588696-41732104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41602856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 985 (E985G)
Ref Sequence ENSEMBL: ENSMUSP00000129034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025993] [ENSMUST00000166496] [ENSMUST00000169141]
AlphaFold Q80TR4
Predicted Effect probably benign
Transcript: ENSMUST00000025993
AA Change: E985G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: E985G

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 benign
Transcript: ENSMUST00000166496
AA Change: E985G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: E985G

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 benign
Transcript: ENSMUST00000169141
AA Change: E985G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: E985G

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
Meta Mutation Damage Score 0.0891 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Adgra2 T A 8: 27,609,272 (GRCm39) M616K possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Bbs7 A G 3: 36,627,720 (GRCm39) V689A probably damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Colgalt2 G A 1: 152,344,282 (GRCm39) V115M probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fancg T C 4: 43,003,830 (GRCm39) D533G probably damaging Het
Frem3 T C 8: 81,340,770 (GRCm39) V1021A probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Orc1 A G 4: 108,463,471 (GRCm39) S663G probably benign Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Por C A 5: 135,744,815 (GRCm39) T26K possibly damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,506,465 (GRCm39) V129D probably benign Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably damaging Het
Zbtb18 A G 1: 177,275,045 (GRCm39) D126G probably 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
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'- TGAACCTGTACTGTCTGGTGC -3'
(R):5'- CGAACCAACCTGTAGACAGATG -3'

Sequencing Primer
(F):5'- GGTGCCTGCTGTCCTTCAG -3'
(R):5'- ACAGATGGTCATATTGGTGATTGG -3'
Posted On 2015-06-20