Incidental Mutation 'IGL01382:Sez6l'
ID 78905
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 # IGL01382
Quality Score
Status
Chromosome 5
Chromosomal Location 112567017-112725051 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 112573487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 842 (V842I)
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
AA Change: V917I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: V917I

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
AA Change: V918I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: V918I

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
AA Change: V852I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: V852I

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 unknown
Transcript: ENSMUST00000200575
AA Change: V668I
Predicted Effect probably benign
Transcript: ENSMUST00000212480
AA Change: V919I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000212758
AA Change: V842I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5z1 G T 5: 142,458,006 (GRCm39) R393L probably benign Het
Arhgap21 G T 2: 20,860,511 (GRCm39) P1128T probably damaging Het
Atp12a T G 14: 56,617,412 (GRCm39) C567W probably damaging Het
Bcat2 C A 7: 45,237,684 (GRCm39) R312S probably damaging Het
Cacna1g T A 11: 94,356,684 (GRCm39) T151S probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Dis3l2 A G 1: 86,784,925 (GRCm39) D272G probably benign Het
Entrep3 T C 3: 89,095,733 (GRCm39) S596P probably damaging Het
Ephx4 A G 5: 107,577,585 (GRCm39) E303G probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Gm9843 A T 16: 76,200,460 (GRCm39) noncoding transcript Het
Gnb1l T C 16: 18,362,950 (GRCm39) F11S probably damaging Het
Ipmk C T 10: 71,212,596 (GRCm39) T186M probably damaging Het
Jph1 T C 1: 17,086,380 (GRCm39) T381A probably damaging Het
Kbtbd8 T A 6: 95,099,211 (GRCm39) I163K probably damaging Het
Kif18a T A 2: 109,127,111 (GRCm39) Y348* probably null Het
Lrrc37a T A 11: 103,389,581 (GRCm39) D1948V probably damaging Het
Mc4r A G 18: 66,992,864 (GRCm39) I83T probably damaging Het
Myh8 A T 11: 67,192,799 (GRCm39) E1530V probably damaging Het
Naip6 C T 13: 100,436,364 (GRCm39) E720K possibly damaging Het
Ncor2 T A 5: 125,132,837 (GRCm39) Q50L probably damaging Het
Or5p70 G A 7: 107,994,452 (GRCm39) V42M probably benign Het
Or9s15 A G 1: 92,524,922 (GRCm39) Y227C possibly damaging Het
Plxnd1 A T 6: 115,937,488 (GRCm39) M1575K probably damaging Het
Ptprg T G 14: 12,237,797 (GRCm38) M643R probably benign Het
Reck T A 4: 43,940,662 (GRCm39) C824S probably damaging Het
Rpgrip1 C T 14: 52,382,934 (GRCm39) T689I possibly damaging Het
Ruvbl2 A T 7: 45,072,161 (GRCm39) S358T probably benign Het
Sec14l3 G T 11: 4,018,104 (GRCm39) C128F probably damaging Het
Serpinf2 C T 11: 75,328,863 (GRCm39) probably benign Het
Tm6sf2 A G 8: 70,531,018 (GRCm39) Y257C probably damaging Het
Tmpo T C 10: 91,001,912 (GRCm39) D99G probably damaging Het
Tulp3 A C 6: 128,302,033 (GRCm39) N329K probably damaging Het
Vmn1r7 T A 6: 57,001,708 (GRCm39) D184V probably damaging Het
Vmn2r24 A G 6: 123,763,938 (GRCm39) T272A possibly damaging Het
Vmn2r93 T A 17: 18,533,578 (GRCm39) L494* probably null Het
Wdr18 T C 10: 79,801,106 (GRCm39) L173P probably damaging Het
Zfp663 T A 2: 165,200,935 (GRCm39) Y33F probably damaging Het
Zmiz2 T A 11: 6,353,781 (GRCm39) probably null 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
IGL01393:Sez6l APN 5 112,586,261 (GRCm39) splice site probably benign
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