Incidental Mutation 'R1961:Sez6l'
ID 317917
Institutional Source Beutler Lab
Gene Symbol Sez6l
Ensembl Gene ENSMUSG00000058153
Gene Name seizure related 6 homolog like
Synonyms Acig1
MMRRC Submission 039975-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1961 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 112567017-112725051 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 112572481 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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 99% (93/94)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,214,257 (GRCm39) Y191H probably damaging Het
Abcc4 C A 14: 118,848,871 (GRCm39) V494L possibly damaging Het
Abcc4 C A 14: 118,848,868 (GRCm39) G495C probably damaging Het
Acsm4 T C 7: 119,307,963 (GRCm39) Y367H probably benign Het
Adam21 A T 12: 81,606,282 (GRCm39) Y493* probably null Het
Add2 T C 6: 86,073,738 (GRCm39) F209S probably damaging Het
Adgre4 T C 17: 56,098,497 (GRCm39) S136P probably benign Het
Aff4 T G 11: 53,263,826 (GRCm39) L282R probably damaging Het
Akt3 A G 1: 176,924,561 (GRCm39) I178T probably damaging Het
Ap3m1 T C 14: 21,091,083 (GRCm39) Y174C probably damaging Het
Arb2a C A 13: 78,050,839 (GRCm39) H50N probably benign Het
Atl1 A G 12: 70,000,274 (GRCm39) E308G probably benign Het
Atp8b5 T G 4: 43,369,688 (GRCm39) V942G probably damaging Het
B3gntl1 A G 11: 121,535,351 (GRCm39) probably null Het
Btrc T G 19: 45,515,782 (GRCm39) I480S probably damaging Het
Cacna1c A T 6: 118,607,283 (GRCm39) I1366N probably benign Het
Ccdc113 T A 8: 96,267,459 (GRCm39) N141K probably benign Het
Ccdc167 T C 17: 29,923,405 (GRCm39) N77D possibly damaging Het
Ccser1 T C 6: 61,290,630 (GRCm39) probably benign Het
Cenpe A G 3: 134,948,254 (GRCm39) E1230G probably damaging Het
Clec12a A C 6: 129,327,444 (GRCm39) T21P possibly damaging Het
Cyp26c1 T A 19: 37,675,825 (GRCm39) F230I probably damaging Het
Exog A G 9: 119,281,332 (GRCm39) E190G possibly damaging Het
Fam162b A G 10: 51,466,430 (GRCm39) W30R probably benign Het
Fndc3b G A 3: 27,510,600 (GRCm39) Q841* probably null Het
Frzb T A 2: 80,254,945 (GRCm39) Y197F probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gabrb1 G A 5: 71,857,679 (GRCm39) R43Q probably benign Het
Gm21060 A T 19: 61,285,445 (GRCm39) H21Q possibly damaging Het
Gm4825 A G 15: 85,395,245 (GRCm39) noncoding transcript Het
Gm5581 A C 6: 131,145,125 (GRCm39) noncoding transcript Het
Gm9894 T C 13: 67,912,034 (GRCm39) noncoding transcript Het
Gpr15 T A 16: 58,538,370 (GRCm39) I240L probably benign Het
Gria4 A T 9: 4,519,546 (GRCm39) probably benign Het
Grid2 T C 6: 63,885,877 (GRCm39) L91S probably damaging Het
Igsf5 A C 16: 96,179,551 (GRCm39) T215P probably damaging Het
Kif13a G A 13: 47,018,314 (GRCm39) probably benign Het
Kif21a G A 15: 90,855,051 (GRCm39) A703V probably damaging Het
Kif27 T G 13: 58,440,937 (GRCm39) R1159S probably benign Het
Kifc2 T A 15: 76,547,025 (GRCm39) L226H probably damaging Het
Klf10 T C 15: 38,296,240 (GRCm39) H435R probably damaging Het
Masp1 T C 16: 23,271,682 (GRCm39) Y623C probably damaging Het
Megf10 T A 18: 57,345,426 (GRCm39) C118S probably damaging Het
Mical3 A G 6: 120,959,568 (GRCm39) V909A possibly damaging Het
Mmrn2 A G 14: 34,120,432 (GRCm39) probably null Het
Mpeg1 G A 19: 12,440,275 (GRCm39) V578M probably damaging Het
Nlrp2 T C 7: 5,330,737 (GRCm39) E553G probably damaging Het
Nmi A T 2: 51,838,632 (GRCm39) S301T probably benign Het
Nr2f2 G T 7: 70,007,903 (GRCm39) T193K possibly damaging Het
Ntng2 T C 2: 29,087,110 (GRCm39) N404S probably damaging Het
Nup50l A G 6: 96,142,250 (GRCm39) S265P possibly damaging Het
Oplah G A 15: 76,181,664 (GRCm39) T1119I probably damaging Het
Or1x2 T G 11: 50,918,302 (GRCm39) S158A probably benign Het
Or52e3 T C 7: 102,869,204 (GRCm39) V93A probably benign Het
Otoa T A 7: 120,717,792 (GRCm39) D336E probably benign Het
Pde4b A G 4: 102,454,657 (GRCm39) E108G probably damaging Het
Pdgfrb G A 18: 61,194,577 (GRCm39) R118H possibly damaging Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Pla2g3 C T 11: 3,440,983 (GRCm39) T316I probably benign Het
Plekhg4 A G 8: 106,108,096 (GRCm39) E982G probably damaging Het
Pmfbp1 T G 8: 110,256,776 (GRCm39) probably benign Het
Pot1b A T 17: 55,969,531 (GRCm39) Y546N probably damaging Het
Pphln1-ps1 T A 16: 13,495,592 (GRCm39) H230Q probably benign Het
Rab11fip5 C A 6: 85,325,973 (GRCm39) Q144H possibly damaging Het
Reep3 A T 10: 66,875,278 (GRCm39) probably null Het
Rgl2 T C 17: 34,152,589 (GRCm39) L400P probably damaging Het
Rnf122 A G 8: 31,614,874 (GRCm39) probably benign Het
Scgb1b21 G T 7: 33,226,803 (GRCm39) noncoding transcript Het
Sec63 A T 10: 42,699,882 (GRCm39) K647N probably damaging Het
Sema4a C T 3: 88,345,483 (GRCm39) probably benign Het
Serpinf1 C T 11: 75,307,245 (GRCm39) V31I probably benign Het
Shank3 T C 15: 89,442,167 (GRCm39) S1612P possibly damaging Het
Slc19a3 G A 1: 83,000,519 (GRCm39) T166M probably benign Het
Slc22a29 C A 19: 8,146,557 (GRCm39) R415M probably benign Het
Slc38a11 A T 2: 65,160,683 (GRCm39) F304I possibly damaging Het
Slitrk1 T A 14: 109,149,622 (GRCm39) N363I probably damaging Het
Slx4ip A G 2: 136,909,601 (GRCm39) T129A probably benign Het
Spop T C 11: 95,382,537 (GRCm39) V332A possibly damaging Het
Sptlc1 A C 13: 53,512,916 (GRCm39) D147E probably benign Het
Tnpo1 T C 13: 98,989,440 (GRCm39) Y754C probably damaging Het
Tox C A 4: 6,688,886 (GRCm39) V493L probably damaging Het
Ttbk1 A C 17: 46,791,150 (GRCm39) F45V probably damaging Het
Ttc27 T A 17: 75,087,851 (GRCm39) M472K probably damaging Het
Ttll7 A G 3: 146,621,550 (GRCm39) probably benign Het
Ttn A T 2: 76,552,104 (GRCm39) C22851S probably benign Het
Ttn T A 2: 76,628,556 (GRCm39) M14535L possibly damaging Het
Txlna T C 4: 129,534,055 (GRCm39) T54A probably benign Het
Usp33 T C 3: 152,086,265 (GRCm39) V668A probably damaging Het
Vmn2r28 C A 7: 5,484,070 (GRCm39) C710F possibly damaging Het
Vmn2r8 T A 5: 108,945,961 (GRCm39) M549L probably benign Het
Vwa5b2 T C 16: 20,420,941 (GRCm39) probably null Het
Wnk1 T C 6: 119,946,208 (GRCm39) I648M 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
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
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
Predicted Primers PCR Primer
(F):5'- TGATGTCCAAAGGAGCCTGC -3'
(R):5'- GTGAAGAGCACTTGCAGGTC -3'

Sequencing Primer
(F):5'- AGCCTGCACAGCAAGGTG -3'
(R):5'- ACTTGCAGGTCCCTCAGTG -3'
Posted On 2015-05-19