Incidental Mutation 'IGL02752:Sez6l2'
ID 304219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sez6l2
Ensembl Gene ENSMUSG00000030683
Gene Name seizure related 6 homolog like 2
Synonyms Psk1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02752
Quality Score
Status
Chromosome 7
Chromosomal Location 126549735-126569778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126552905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 164 (S164P)
Ref Sequence ENSEMBL: ENSMUSP00000101939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052937] [ENSMUST00000106332] [ENSMUST00000106333] [ENSMUST00000106335] [ENSMUST00000106339] [ENSMUST00000106340] [ENSMUST00000146017]
AlphaFold Q4V9Z5
Predicted Effect probably benign
Transcript: ENSMUST00000052937
SMART Domains Protein: ENSMUSP00000049848
Gene: ENSMUSG00000046378

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 1 92 5.5e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106332
AA Change: S164P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683
AA Change: S164P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 70 86 N/A INTRINSIC
low complexity region 93 108 N/A INTRINSIC
CUB 113 226 8.25e-4 SMART
CCP 230 285 3.75e-15 SMART
CUB 289 399 1.3e-3 SMART
CCP 404 463 8.9e-8 SMART
CUB 467 578 3.45e-14 SMART
CCP 584 639 1.18e-12 SMART
CCP 645 704 1.31e-14 SMART
CCP 711 768 2.76e-13 SMART
transmembrane domain 798 820 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106333
AA Change: S224P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683
AA Change: S224P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 115 146 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
CUB 173 286 8.25e-4 SMART
CCP 290 345 3.75e-15 SMART
CUB 349 459 1.3e-3 SMART
CCP 464 523 8.9e-8 SMART
CUB 527 638 3.45e-14 SMART
CCP 644 699 1.18e-12 SMART
CCP 705 764 1.31e-14 SMART
CCP 771 828 2.76e-13 SMART
transmembrane domain 858 880 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106335
AA Change: S224P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683
AA Change: S224P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 115 146 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
CUB 173 286 8.25e-4 SMART
CCP 290 345 3.75e-15 SMART
CUB 349 459 1.3e-3 SMART
CCP 464 523 8.9e-8 SMART
CUB 527 638 3.45e-14 SMART
CCP 644 699 1.18e-12 SMART
CCP 705 764 1.31e-14 SMART
CCP 771 828 2.76e-13 SMART
transmembrane domain 845 867 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106339
SMART Domains Protein: ENSMUSP00000101946
Gene: ENSMUSG00000046378

DomainStartEndE-ValueType
Pfam:Asp_Arg_Hydrox 1 92 5.5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106340
SMART Domains Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378

DomainStartEndE-ValueType
transmembrane domain 46 68 N/A INTRINSIC
low complexity region 115 128 N/A INTRINSIC
low complexity region 138 153 N/A INTRINSIC
low complexity region 157 170 N/A INTRINSIC
Pfam:Asp_Arg_Hydrox 191 342 1.4e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000146017
AA Change: S180P
SMART Domains Protein: ENSMUSP00000115905
Gene: ENSMUSG00000030683
AA Change: S180P

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 72 91 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123117
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no apparent defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C A 15: 84,840,042 (GRCm39) E145* probably null Het
Abca9 A G 11: 110,018,194 (GRCm39) F1142S probably damaging Het
Bod1l T C 5: 41,973,806 (GRCm39) T2503A possibly damaging Het
Bpi A G 2: 158,104,344 (GRCm39) D149G probably damaging Het
Cntnap5a A G 1: 116,508,261 (GRCm39) T1258A probably benign Het
Col4a3 A G 1: 82,637,946 (GRCm39) D256G unknown Het
Cul5 T C 9: 53,546,278 (GRCm39) T338A probably damaging Het
Efs A G 14: 55,154,880 (GRCm39) V453A probably damaging Het
Fbxw19 T A 9: 109,323,709 (GRCm39) N89Y probably benign Het
Fbxw8 A G 5: 118,280,815 (GRCm39) F114S probably damaging Het
Flnb A G 14: 7,917,338 (GRCm38) I1606V probably benign Het
Gpr158 A G 2: 21,831,638 (GRCm39) T913A possibly damaging Het
Gtf2f1 A T 17: 57,316,682 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,387,678 (GRCm39) *1059L probably null Het
Hmgb4 T C 4: 128,154,134 (GRCm39) K145E probably damaging Het
Igf2bp2 T A 16: 21,898,860 (GRCm39) M250L probably benign Het
Igkv14-111 A G 6: 68,233,561 (GRCm39) K21E probably benign Het
Il6st C T 13: 112,616,729 (GRCm39) T92I probably damaging Het
Jak3 G T 8: 72,135,595 (GRCm39) V581L possibly damaging Het
Kank2 C T 9: 21,706,329 (GRCm39) V230M probably damaging Het
Kif1a G A 1: 92,967,569 (GRCm39) A1123V possibly damaging Het
Kpna4 T A 3: 69,002,863 (GRCm39) R125* probably null Het
Mybpc3 A T 2: 90,962,982 (GRCm39) probably null Het
Ntn4 T C 10: 93,546,421 (GRCm39) V358A possibly damaging Het
Pacsin1 A T 17: 27,921,672 (GRCm39) probably null Het
Pcsk2 A G 2: 143,615,865 (GRCm39) N221S probably benign Het
Pik3cg A G 12: 32,254,262 (GRCm39) L575P probably damaging Het
Pkhd1 A T 1: 20,623,815 (GRCm39) V760E possibly damaging Het
Plxnc1 T C 10: 94,630,542 (GRCm39) probably null Het
Ppfia1 T C 7: 144,073,341 (GRCm39) T217A probably benign Het
Rictor A G 15: 6,816,852 (GRCm39) T1375A probably benign Het
Scn1a A G 2: 66,161,756 (GRCm39) I264T probably damaging Het
Slc31a1 C T 4: 62,303,869 (GRCm39) probably benign Het
Slc45a1 T C 4: 150,722,478 (GRCm39) N469D probably benign Het
Slco1a5 T C 6: 142,208,438 (GRCm39) T76A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stfa3 G A 16: 36,270,999 (GRCm39) T95I probably damaging Het
Stk11ip A C 1: 75,501,325 (GRCm39) probably null Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Traf1 A G 2: 34,848,020 (GRCm39) S25P probably benign Het
Ttn G T 2: 76,622,125 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,798,283 (GRCm39) I2041N probably damaging Het
Zfp512b A T 2: 181,229,864 (GRCm39) D556E possibly damaging Het
Zfpm2 T A 15: 40,965,415 (GRCm39) D633E probably benign Het
Other mutations in Sez6l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Sez6l2 APN 7 126,561,055 (GRCm39) missense possibly damaging 0.91
IGL01710:Sez6l2 APN 7 126,567,388 (GRCm39) missense probably damaging 1.00
IGL02439:Sez6l2 APN 7 126,567,361 (GRCm39) missense probably damaging 0.99
H8786:Sez6l2 UTSW 7 126,560,955 (GRCm39) missense possibly damaging 0.95
R0783:Sez6l2 UTSW 7 126,566,317 (GRCm39) missense possibly damaging 0.65
R0989:Sez6l2 UTSW 7 126,559,016 (GRCm39) missense probably damaging 1.00
R1148:Sez6l2 UTSW 7 126,560,984 (GRCm39) missense probably damaging 1.00
R1148:Sez6l2 UTSW 7 126,560,984 (GRCm39) missense probably damaging 1.00
R1493:Sez6l2 UTSW 7 126,560,984 (GRCm39) missense probably damaging 1.00
R1509:Sez6l2 UTSW 7 126,562,535 (GRCm39) missense probably damaging 1.00
R1704:Sez6l2 UTSW 7 126,557,513 (GRCm39) missense probably damaging 1.00
R1817:Sez6l2 UTSW 7 126,566,291 (GRCm39) missense probably damaging 1.00
R1889:Sez6l2 UTSW 7 126,552,668 (GRCm39) missense probably damaging 1.00
R2509:Sez6l2 UTSW 7 126,552,944 (GRCm39) missense probably benign 0.31
R3772:Sez6l2 UTSW 7 126,558,375 (GRCm39) missense probably damaging 0.99
R4466:Sez6l2 UTSW 7 126,559,023 (GRCm39) missense probably damaging 0.97
R4869:Sez6l2 UTSW 7 126,561,014 (GRCm39) missense probably benign 0.02
R5155:Sez6l2 UTSW 7 126,561,545 (GRCm39) missense probably damaging 0.99
R5416:Sez6l2 UTSW 7 126,561,058 (GRCm39) missense probably damaging 1.00
R5551:Sez6l2 UTSW 7 126,566,002 (GRCm39) missense probably damaging 1.00
R5884:Sez6l2 UTSW 7 126,569,328 (GRCm39) unclassified probably benign
R5903:Sez6l2 UTSW 7 126,569,305 (GRCm39) unclassified probably benign
R6015:Sez6l2 UTSW 7 126,552,625 (GRCm39) missense probably damaging 0.97
R6726:Sez6l2 UTSW 7 126,567,177 (GRCm39) missense probably damaging 0.96
R7094:Sez6l2 UTSW 7 126,552,096 (GRCm39) missense probably damaging 0.99
R7117:Sez6l2 UTSW 7 126,552,915 (GRCm39) missense possibly damaging 0.94
R7228:Sez6l2 UTSW 7 126,552,897 (GRCm39) missense probably damaging 1.00
R7479:Sez6l2 UTSW 7 126,562,831 (GRCm39) missense probably damaging 1.00
R7502:Sez6l2 UTSW 7 126,560,915 (GRCm39) missense probably benign 0.26
R8321:Sez6l2 UTSW 7 126,557,588 (GRCm39) missense probably damaging 0.99
Z1176:Sez6l2 UTSW 7 126,557,503 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16