Incidental Mutation 'IGL01393:Sez6l'
ID 79325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sez6l
Ensembl Gene ENSMUSG00000058153
Gene Name seizure related 6 homolog like
Synonyms Acig1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01393
Quality Score
Status
Chromosome 5
Chromosomal Location 112567017-112725051 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 112586261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075387] [ENSMUST00000079491] [ENSMUST00000197425] [ENSMUST00000212480] [ENSMUST00000212758]
AlphaFold Q6P1D5
Predicted Effect probably benign
Transcript: ENSMUST00000075387
SMART Domains Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 47 59 N/A INTRINSIC
low complexity region 191 215 N/A INTRINSIC
CUB 221 329 3.62e-8 SMART
CCP 333 388 1.01e-11 SMART
CUB 392 502 3.75e-15 SMART
CCP 507 564 1.41e-10 SMART
CUB 568 679 4.87e-23 SMART
CCP 685 740 4.95e-15 SMART
CCP 746 805 3.07e-11 SMART
CCP 813 870 8.04e-15 SMART
low complexity region 880 891 N/A INTRINSIC
transmembrane domain 895 917 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079491
SMART Domains Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 47 59 N/A INTRINSIC
low complexity region 191 215 N/A INTRINSIC
CUB 221 329 3.62e-8 SMART
CCP 333 388 1.01e-11 SMART
CUB 392 502 3.75e-15 SMART
CCP 507 564 1.41e-10 SMART
CUB 568 679 4.87e-23 SMART
CCP 685 740 4.95e-15 SMART
CCP 746 805 3.07e-11 SMART
CCP 813 870 8.04e-15 SMART
low complexity region 878 892 N/A INTRINSIC
transmembrane domain 896 918 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197425
SMART Domains Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 47 59 N/A INTRINSIC
low complexity region 191 215 N/A INTRINSIC
CUB 221 329 3.62e-8 SMART
CCP 333 388 1.01e-11 SMART
CUB 392 502 3.75e-15 SMART
CCP 507 564 1.41e-10 SMART
CUB 568 679 4.87e-23 SMART
CCP 685 740 4.95e-15 SMART
CCP 746 805 3.07e-11 SMART
low complexity region 815 826 N/A INTRINSIC
transmembrane domain 830 852 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200575
Predicted Effect probably benign
Transcript: ENSMUST00000212480
Predicted Effect probably benign
Transcript: ENSMUST00000212758
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 35,818,379 (GRCm39) V126I possibly damaging Het
A630073D07Rik G T 6: 132,603,577 (GRCm39) Q60K unknown Het
Alpk2 A G 18: 65,440,779 (GRCm39) S205P possibly damaging Het
Ang4 T A 14: 52,001,670 (GRCm39) I93L probably benign Het
Arpin A G 7: 79,581,588 (GRCm39) V44A possibly damaging Het
Atxn3 A T 12: 101,899,306 (GRCm39) C263* probably null Het
Cd209f T C 8: 4,153,154 (GRCm39) N260S probably damaging Het
Cdh20 A G 1: 104,861,969 (GRCm39) R50G probably benign Het
Cracd T C 5: 77,006,818 (GRCm39) S1060P unknown Het
Csmd3 C T 15: 48,320,995 (GRCm39) V272I possibly damaging Het
Dst A T 1: 34,206,706 (GRCm39) Y1136F possibly damaging Het
Fam20c A G 5: 138,793,026 (GRCm39) Y420C probably damaging Het
Fancd2 T A 6: 113,554,321 (GRCm39) probably benign Het
Fat2 T C 11: 55,160,135 (GRCm39) D3326G probably benign Het
Filip1l A G 16: 57,392,586 (GRCm39) N820S probably damaging Het
Gm26566 G A 4: 88,640,581 (GRCm39) probably benign Het
Gm4792 A G 10: 94,134,304 (GRCm39) L22P unknown Het
Gpat2 A G 2: 127,274,571 (GRCm39) E386G probably damaging Het
Grm3 T C 5: 9,639,856 (GRCm39) D63G probably benign Het
Hdc A G 2: 126,436,581 (GRCm39) V430A probably benign Het
Hnf4a T C 2: 163,393,492 (GRCm39) probably benign Het
Il2ra A G 2: 11,687,865 (GRCm39) D215G probably damaging Het
Kctd3 T C 1: 188,732,487 (GRCm39) I74V probably benign Het
Kctd5 A T 17: 24,278,292 (GRCm39) probably null Het
Lrsam1 A T 2: 32,845,185 (GRCm39) probably benign Het
Mblac1 A G 5: 138,193,036 (GRCm39) N126S possibly damaging Het
Mmrn1 T A 6: 60,937,692 (GRCm39) probably benign Het
Mpp3 A T 11: 101,916,304 (GRCm39) L16Q probably damaging Het
Mrgprb1 C A 7: 48,097,754 (GRCm39) A53S possibly damaging Het
Nbea C A 3: 55,912,729 (GRCm39) M1019I probably benign Het
Nlrp5 A G 7: 23,103,599 (GRCm39) K22R probably null Het
Or1j4 G A 2: 36,740,553 (GRCm39) R165Q probably benign Het
Or2ag18 C T 7: 106,405,642 (GRCm39) G9E probably benign Het
Or4k48 A G 2: 111,475,601 (GRCm39) V247A probably damaging Het
Pard6b T A 2: 167,929,298 (GRCm39) S35T probably benign Het
Peli1 T C 11: 21,097,400 (GRCm39) V215A probably benign Het
Pkp4 A T 2: 59,178,269 (GRCm39) D1003V probably damaging Het
Pot1a G A 6: 25,744,630 (GRCm39) R625* probably null Het
Ppp1r16a T C 15: 76,578,744 (GRCm39) S483P probably benign Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Prrg3 T C X: 71,011,123 (GRCm39) V210A probably benign Het
Rev1 A G 1: 38,131,144 (GRCm39) V168A probably damaging Het
Spag17 A G 3: 99,934,926 (GRCm39) T711A possibly damaging Het
Spice1 A G 16: 44,186,993 (GRCm39) I163M probably benign Het
Tex13c1 C T X: 42,680,233 (GRCm39) A66V probably damaging Het
Tmem132d A T 5: 127,861,702 (GRCm39) S806R probably benign Het
Tnc A G 4: 63,932,291 (GRCm39) probably benign Het
Tpbg T A 9: 85,726,145 (GRCm39) V38E unknown Het
Unc13c T A 9: 73,447,552 (GRCm39) I1883F probably benign Het
Vmn2r61 A C 7: 41,916,258 (GRCm39) Q290H probably benign Het
Vps39 A G 2: 120,180,719 (GRCm39) probably benign Het
Zfp369 T C 13: 65,442,288 (GRCm39) V294A possibly damaging Het
Zfp821 T A 8: 110,436,110 (GRCm39) probably benign Het
Zfp941 C T 7: 140,391,841 (GRCm39) G506E probably damaging Het
Other mutations in Sez6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Sez6l APN 5 112,572,511 (GRCm39) missense probably damaging 1.00
IGL00494:Sez6l APN 5 112,610,869 (GRCm39) missense probably damaging 1.00
IGL00693:Sez6l APN 5 112,569,879 (GRCm39) missense probably damaging 1.00
IGL01146:Sez6l APN 5 112,576,275 (GRCm39) missense probably damaging 1.00
IGL01382:Sez6l APN 5 112,573,487 (GRCm39) missense probably benign 0.00
IGL01961:Sez6l APN 5 112,619,597 (GRCm39) missense probably damaging 1.00
IGL02101:Sez6l APN 5 112,620,612 (GRCm39) missense probably damaging 1.00
IGL02104:Sez6l APN 5 112,574,630 (GRCm39) intron probably benign
IGL02316:Sez6l APN 5 112,610,828 (GRCm39) missense probably damaging 1.00
IGL02965:Sez6l APN 5 112,623,440 (GRCm39) missense probably damaging 0.99
IGL03102:Sez6l APN 5 112,623,269 (GRCm39) missense probably benign 0.02
IGL03112:Sez6l APN 5 112,621,333 (GRCm39) missense probably damaging 1.00
IGL03180:Sez6l APN 5 112,584,151 (GRCm39) missense probably damaging 1.00
ranger UTSW 5 112,724,678 (GRCm39) splice site probably null
R0245:Sez6l UTSW 5 112,623,432 (GRCm39) missense probably benign
R0662:Sez6l UTSW 5 112,621,288 (GRCm39) missense probably damaging 1.00
R1227:Sez6l UTSW 5 112,621,330 (GRCm39) missense probably damaging 1.00
R1605:Sez6l UTSW 5 112,622,915 (GRCm39) missense probably damaging 1.00
R1873:Sez6l UTSW 5 112,621,276 (GRCm39) splice site probably benign
R1878:Sez6l UTSW 5 112,623,089 (GRCm39) missense probably damaging 0.98
R1892:Sez6l UTSW 5 112,620,665 (GRCm39) missense probably damaging 1.00
R1961:Sez6l UTSW 5 112,572,481 (GRCm39) splice site probably benign
R2038:Sez6l UTSW 5 112,620,618 (GRCm39) missense possibly damaging 0.81
R2212:Sez6l UTSW 5 112,623,227 (GRCm39) missense possibly damaging 0.76
R2315:Sez6l UTSW 5 112,612,463 (GRCm39) missense probably benign 0.02
R2343:Sez6l UTSW 5 112,612,597 (GRCm39) missense probably damaging 1.00
R3412:Sez6l UTSW 5 112,623,227 (GRCm39) missense possibly damaging 0.76
R3413:Sez6l UTSW 5 112,623,227 (GRCm39) missense possibly damaging 0.76
R3423:Sez6l UTSW 5 112,574,615 (GRCm39) missense probably damaging 0.99
R3425:Sez6l UTSW 5 112,574,615 (GRCm39) missense probably damaging 0.99
R4081:Sez6l UTSW 5 112,609,032 (GRCm39) missense probably benign 0.01
R4574:Sez6l UTSW 5 112,576,344 (GRCm39) missense probably damaging 1.00
R5792:Sez6l UTSW 5 112,569,890 (GRCm39) nonsense probably null
R5864:Sez6l UTSW 5 112,586,266 (GRCm39) critical splice donor site probably null
R6236:Sez6l UTSW 5 112,623,110 (GRCm39) missense possibly damaging 0.86
R6274:Sez6l UTSW 5 112,623,231 (GRCm39) nonsense probably null
R6466:Sez6l UTSW 5 112,609,007 (GRCm39) splice site probably null
R6574:Sez6l UTSW 5 112,724,692 (GRCm39) missense possibly damaging 0.89
R7008:Sez6l UTSW 5 112,612,561 (GRCm39) missense probably damaging 1.00
R7241:Sez6l UTSW 5 112,621,346 (GRCm39) missense probably benign
R7329:Sez6l UTSW 5 112,588,773 (GRCm39) missense probably damaging 0.99
R7335:Sez6l UTSW 5 112,724,678 (GRCm39) splice site probably null
R7502:Sez6l UTSW 5 112,623,347 (GRCm39) missense possibly damaging 0.89
R7870:Sez6l UTSW 5 112,586,447 (GRCm39) missense probably damaging 1.00
R8260:Sez6l UTSW 5 112,609,122 (GRCm39) missense probably benign 0.23
R8325:Sez6l UTSW 5 112,575,982 (GRCm39) splice site probably null
R8884:Sez6l UTSW 5 112,622,910 (GRCm39) missense probably damaging 1.00
R8897:Sez6l UTSW 5 112,588,744 (GRCm39) missense possibly damaging 0.94
R9071:Sez6l UTSW 5 112,573,603 (GRCm39) splice site probably benign
R9142:Sez6l UTSW 5 112,609,083 (GRCm39) missense probably benign 0.00
R9159:Sez6l UTSW 5 112,613,824 (GRCm39) missense possibly damaging 0.52
X0052:Sez6l UTSW 5 112,620,767 (GRCm39) missense possibly damaging 0.75
Z1088:Sez6l UTSW 5 112,588,781 (GRCm39) missense probably damaging 1.00
Z1177:Sez6l UTSW 5 112,724,798 (GRCm39) unclassified probably benign
Posted On 2013-11-05