Incidental Mutation 'R0089:Sez6'
ID 20083
Institutional Source Beutler Lab
Gene Symbol Sez6
Ensembl Gene ENSMUSG00000000632
Gene Name seizure related gene 6
Synonyms sez-6, D11Bhm177e
MMRRC Submission 038376-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0089 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 77821626-77869874 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 77865170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000000646] [ENSMUST00000093995]
AlphaFold Q7TSK2
Predicted Effect probably benign
Transcript: ENSMUST00000000646
SMART Domains Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 72 85 N/A INTRINSIC
low complexity region 119 132 N/A INTRINSIC
low complexity region 223 235 N/A INTRINSIC
CUB 241 350 9.36e-2 SMART
CCP 354 409 1.23e-10 SMART
CUB 413 524 1.41e-28 SMART
CCP 529 586 5.43e-12 SMART
CUB 590 701 7.49e-24 SMART
CCP 707 762 3.09e-16 SMART
CCP 768 827 3.5e-15 SMART
CCP 835 892 1.42e-15 SMART
transmembrane domain 910 932 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093995
SMART Domains Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 72 85 N/A INTRINSIC
low complexity region 119 132 N/A INTRINSIC
low complexity region 223 235 N/A INTRINSIC
CUB 241 350 9.36e-2 SMART
CCP 354 409 1.23e-10 SMART
CUB 413 524 1.41e-28 SMART
CCP 529 586 5.43e-12 SMART
CUB 590 701 7.49e-24 SMART
CCP 707 762 3.09e-16 SMART
CCP 768 827 3.5e-15 SMART
CCP 835 892 1.42e-15 SMART
transmembrane domain 923 945 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126866
Predicted Effect probably benign
Transcript: ENSMUST00000140630
SMART Domains Protein: ENSMUSP00000115660
Gene: ENSMUSG00000000632

DomainStartEndE-ValueType
CUB 29 140 9.8e-28 SMART
CCP 157 214 5.43e-12 SMART
Pfam:CUB 218 278 1.6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142542
Predicted Effect probably benign
Transcript: ENSMUST00000151982
SMART Domains Protein: ENSMUSP00000132041
Gene: ENSMUSG00000000632

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
CUB 75 184 9.36e-2 SMART
CCP 188 243 1.23e-10 SMART
CUB 247 358 8.08e-29 SMART
low complexity region 379 394 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155087
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 98% (82/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit increased short dendrites, decreased excitatory synaptic signaling, resistance to pharmacologically induces seizures, decreased activity and impaired learning and coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,282,303 (GRCm39) H163L probably benign Het
Abca13 T A 11: 9,242,886 (GRCm39) V1583E possibly damaging Het
Ablim1 G T 19: 57,031,463 (GRCm39) S654Y probably damaging Het
Acbd4 T C 11: 102,994,819 (GRCm39) F59S probably damaging Het
Acot1 T C 12: 84,063,708 (GRCm39) I272T probably damaging Het
Ankhd1 A G 18: 36,773,409 (GRCm39) D1402G probably damaging Het
Birc6 T A 17: 74,945,371 (GRCm39) F2800I possibly damaging Het
Brd1 T C 15: 88,585,401 (GRCm39) E811G probably benign Het
Catspere2 C T 1: 177,874,555 (GRCm39) P141S unknown Het
Ccdc106 A G 7: 5,059,220 (GRCm39) probably null Het
Ccdc81 G T 7: 89,542,324 (GRCm39) A184E possibly damaging Het
Cenpt T C 8: 106,573,000 (GRCm39) T364A probably benign Het
Crybg2 T C 4: 133,808,505 (GRCm39) S1060P probably damaging Het
Dnttip2 A G 3: 122,069,111 (GRCm39) T109A possibly damaging Het
Dpy19l2 A G 9: 24,607,089 (GRCm39) L124P probably benign Het
Eif1ad19 A T 12: 87,740,283 (GRCm39) I92N probably damaging Het
Fat3 T C 9: 15,849,501 (GRCm39) D3967G probably benign Het
Fbxo21 T A 5: 118,146,208 (GRCm39) F610L probably benign Het
Fmo9 T C 1: 166,494,878 (GRCm39) D341G probably benign Het
Frem3 A T 8: 81,342,507 (GRCm39) H1600L possibly damaging Het
Fry A T 5: 150,263,892 (GRCm39) K133N possibly damaging Het
Gm10647 A G 9: 66,705,612 (GRCm39) probably benign Het
Gmps T C 3: 63,906,119 (GRCm39) F472S probably benign Het
Grb10 T C 11: 11,884,192 (GRCm39) probably benign Het
Grm6 G A 11: 50,750,792 (GRCm39) G652S probably damaging Het
Heca G T 10: 17,783,848 (GRCm39) D468E probably damaging Het
Heg1 C T 16: 33,583,985 (GRCm39) S1033L probably damaging Het
Hepacam2 A G 6: 3,487,094 (GRCm39) S12P probably damaging Het
Impdh1 G T 6: 29,206,325 (GRCm39) H195N probably benign Het
Ipo7 T C 7: 109,649,972 (GRCm39) probably benign Het
Itpr2 C T 6: 146,251,520 (GRCm39) probably null Het
Kcnh6 G A 11: 105,899,848 (GRCm39) C39Y probably benign Het
Kif26a T C 12: 112,143,837 (GRCm39) S1364P probably damaging Het
Lins1 T A 7: 66,361,796 (GRCm39) probably benign Het
Lrpap1 C T 5: 35,252,232 (GRCm39) V328M possibly damaging Het
Lyn T G 4: 3,748,768 (GRCm39) L249V probably benign Het
Mpp7 A G 18: 7,439,555 (GRCm39) probably benign Het
Mtmr9 A G 14: 63,765,696 (GRCm39) F400L possibly damaging Het
Mto1 G A 9: 78,381,154 (GRCm39) S666N probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Nsg1 T C 5: 38,312,974 (GRCm39) E75G probably benign Het
Nsun4 A G 4: 115,892,970 (GRCm39) M283T probably benign Het
Obscn A G 11: 58,890,888 (GRCm39) S7215P unknown Het
Or11j4 T C 14: 50,630,321 (GRCm39) I36T probably benign Het
Or13a20 T C 7: 140,232,224 (GRCm39) S111P probably damaging Het
Or1j12 G A 2: 36,343,107 (GRCm39) R170K probably benign Het
Or2y13 G A 11: 49,415,033 (GRCm39) S161N possibly damaging Het
Or52e4 T A 7: 104,706,297 (GRCm39) Y281* probably null Het
Or5al1 A C 2: 85,989,918 (GRCm39) S265R possibly damaging Het
Or9m1b T C 2: 87,836,331 (GRCm39) I264V probably damaging Het
Per1 T C 11: 68,994,869 (GRCm39) F563S probably benign Het
Pik3c3 T A 18: 30,436,131 (GRCm39) probably benign Het
Pitrm1 A T 13: 6,605,675 (GRCm39) K207N probably damaging Het
Prdm10 C T 9: 31,227,526 (GRCm39) R44C probably damaging Het
Rab40c A T 17: 26,104,122 (GRCm39) I90N probably damaging Het
Rbl1 A G 2: 157,041,334 (GRCm39) probably null Het
Rnf17 G A 14: 56,751,563 (GRCm39) G1467E probably damaging Het
Rpgrip1 A G 14: 52,386,841 (GRCm39) probably benign Het
Sall1 A T 8: 89,756,896 (GRCm39) N1069K probably benign Het
Scap T C 9: 110,201,290 (GRCm39) I93T possibly damaging Het
Slc22a30 A T 19: 8,347,561 (GRCm39) S280T probably benign Het
Slc26a5 A C 5: 22,016,342 (GRCm39) probably null Het
St18 T C 1: 6,919,172 (GRCm39) V901A probably benign Het
Syne2 T C 12: 76,010,650 (GRCm39) L2519P probably damaging Het
Syne4 G A 7: 30,018,344 (GRCm39) G362E probably damaging Het
Tmem51 T C 4: 141,759,236 (GRCm39) T171A probably benign Het
Tns4 A T 11: 98,966,024 (GRCm39) I453N probably damaging Het
Trank1 A T 9: 111,221,978 (GRCm39) H2905L probably benign Het
Trim13 C T 14: 61,842,166 (GRCm39) T61I possibly damaging Het
Trim75 T C 8: 65,435,580 (GRCm39) Q290R possibly damaging Het
Ttn C A 2: 76,559,544 (GRCm39) R29619L probably damaging Het
Ugt2b38 T A 5: 87,568,417 (GRCm39) M293L probably benign Het
Vmn1r22 T A 6: 57,877,513 (GRCm39) N155Y probably benign Het
Vmn2r18 T C 5: 151,508,269 (GRCm39) Y285C probably benign Het
Vmn2r84 C T 10: 130,222,588 (GRCm39) probably benign Het
Vwde A C 6: 13,220,004 (GRCm39) L49R probably damaging Het
Yipf2 T A 9: 21,503,262 (GRCm39) E68D possibly damaging Het
Zfand5 C A 19: 21,257,122 (GRCm39) probably benign Het
Other mutations in Sez6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Sez6 APN 11 77,868,115 (GRCm39) splice site probably benign
IGL01142:Sez6 APN 11 77,864,642 (GRCm39) missense probably damaging 1.00
IGL02252:Sez6 APN 11 77,865,339 (GRCm39) missense probably damaging 1.00
IGL02332:Sez6 APN 11 77,845,568 (GRCm39) splice site probably benign
IGL02366:Sez6 APN 11 77,867,708 (GRCm39) missense probably damaging 0.98
IGL02479:Sez6 APN 11 77,868,852 (GRCm39) missense possibly damaging 0.84
IGL02963:Sez6 APN 11 77,853,775 (GRCm39) missense possibly damaging 0.93
velum UTSW 11 77,865,375 (GRCm39) missense probably damaging 1.00
R0054:Sez6 UTSW 11 77,844,699 (GRCm39) missense possibly damaging 0.94
R0054:Sez6 UTSW 11 77,844,699 (GRCm39) missense possibly damaging 0.94
R0485:Sez6 UTSW 11 77,844,639 (GRCm39) missense probably damaging 1.00
R0598:Sez6 UTSW 11 77,868,647 (GRCm39) missense possibly damaging 0.88
R0729:Sez6 UTSW 11 77,867,411 (GRCm39) missense probably benign 0.01
R1117:Sez6 UTSW 11 77,865,340 (GRCm39) missense probably damaging 1.00
R1199:Sez6 UTSW 11 77,844,711 (GRCm39) missense probably benign
R1534:Sez6 UTSW 11 77,853,871 (GRCm39) missense probably damaging 1.00
R1835:Sez6 UTSW 11 77,844,329 (GRCm39) missense probably benign
R1840:Sez6 UTSW 11 77,844,543 (GRCm39) missense possibly damaging 0.79
R1929:Sez6 UTSW 11 77,863,758 (GRCm39) missense probably damaging 1.00
R1970:Sez6 UTSW 11 77,844,894 (GRCm39) critical splice donor site probably null
R3156:Sez6 UTSW 11 77,844,605 (GRCm39) missense possibly damaging 0.63
R3930:Sez6 UTSW 11 77,867,708 (GRCm39) missense probably damaging 0.98
R3931:Sez6 UTSW 11 77,867,708 (GRCm39) missense probably damaging 0.98
R4894:Sez6 UTSW 11 77,866,086 (GRCm39) missense probably damaging 1.00
R4904:Sez6 UTSW 11 77,866,080 (GRCm39) missense probably damaging 1.00
R5026:Sez6 UTSW 11 77,859,815 (GRCm39) missense probably damaging 1.00
R5040:Sez6 UTSW 11 77,859,915 (GRCm39) critical splice donor site probably null
R5057:Sez6 UTSW 11 77,863,979 (GRCm39) missense probably damaging 1.00
R5093:Sez6 UTSW 11 77,867,388 (GRCm39) missense possibly damaging 0.88
R5640:Sez6 UTSW 11 77,864,585 (GRCm39) intron probably benign
R6013:Sez6 UTSW 11 77,864,623 (GRCm39) missense probably damaging 1.00
R6126:Sez6 UTSW 11 77,864,630 (GRCm39) missense probably damaging 1.00
R6153:Sez6 UTSW 11 77,868,648 (GRCm39) missense probably damaging 0.99
R6279:Sez6 UTSW 11 77,867,367 (GRCm39) missense possibly damaging 0.63
R6300:Sez6 UTSW 11 77,867,367 (GRCm39) missense possibly damaging 0.63
R6475:Sez6 UTSW 11 77,864,670 (GRCm39)
R6722:Sez6 UTSW 11 77,844,528 (GRCm39) missense probably damaging 1.00
R6897:Sez6 UTSW 11 77,844,385 (GRCm39) missense probably damaging 1.00
R6910:Sez6 UTSW 11 77,844,695 (GRCm39) missense possibly damaging 0.85
R7012:Sez6 UTSW 11 77,868,621 (GRCm39) missense probably benign 0.04
R7233:Sez6 UTSW 11 77,863,963 (GRCm39) missense probably damaging 1.00
R7265:Sez6 UTSW 11 77,853,691 (GRCm39) missense probably damaging 0.96
R7289:Sez6 UTSW 11 77,865,149 (GRCm39) missense possibly damaging 0.96
R7405:Sez6 UTSW 11 77,853,717 (GRCm39) missense probably benign 0.10
R7408:Sez6 UTSW 11 77,844,356 (GRCm39) missense probably damaging 1.00
R7485:Sez6 UTSW 11 77,864,711 (GRCm39) missense probably benign 0.01
R7592:Sez6 UTSW 11 77,868,876 (GRCm39) missense probably damaging 0.99
R7778:Sez6 UTSW 11 77,865,375 (GRCm39) missense probably damaging 1.00
R7793:Sez6 UTSW 11 77,868,426 (GRCm39) missense probably damaging 1.00
R7818:Sez6 UTSW 11 77,867,728 (GRCm39) missense probably damaging 1.00
R7824:Sez6 UTSW 11 77,865,375 (GRCm39) missense probably damaging 1.00
R7980:Sez6 UTSW 11 77,844,668 (GRCm39) missense probably benign 0.34
R8008:Sez6 UTSW 11 77,864,082 (GRCm39) nonsense probably null
R8840:Sez6 UTSW 11 77,867,313 (GRCm39) missense probably damaging 1.00
R8947:Sez6 UTSW 11 77,844,353 (GRCm39) missense probably damaging 1.00
R8973:Sez6 UTSW 11 77,865,397 (GRCm39) missense probably damaging 1.00
R9040:Sez6 UTSW 11 77,864,762 (GRCm39) missense probably benign
R9081:Sez6 UTSW 11 77,865,121 (GRCm39) missense possibly damaging 0.83
R9082:Sez6 UTSW 11 77,865,121 (GRCm39) missense possibly damaging 0.83
R9092:Sez6 UTSW 11 77,865,121 (GRCm39) missense possibly damaging 0.83
R9094:Sez6 UTSW 11 77,865,121 (GRCm39) missense possibly damaging 0.83
R9095:Sez6 UTSW 11 77,865,121 (GRCm39) missense possibly damaging 0.83
R9097:Sez6 UTSW 11 77,865,121 (GRCm39) missense possibly damaging 0.83
R9169:Sez6 UTSW 11 77,868,473 (GRCm39) missense probably damaging 0.96
R9513:Sez6 UTSW 11 77,865,409 (GRCm39) missense probably damaging 1.00
R9630:Sez6 UTSW 11 77,865,121 (GRCm39) missense possibly damaging 0.83
R9632:Sez6 UTSW 11 77,865,121 (GRCm39) missense possibly damaging 0.83
R9646:Sez6 UTSW 11 77,867,632 (GRCm39) missense probably damaging 0.99
R9709:Sez6 UTSW 11 77,865,121 (GRCm39) missense possibly damaging 0.83
X0013:Sez6 UTSW 11 77,845,606 (GRCm39) missense probably benign 0.01
X0067:Sez6 UTSW 11 77,865,264 (GRCm39) critical splice acceptor site probably null
Z1088:Sez6 UTSW 11 77,864,023 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AACAAGCAGGGTAGGTCCCTAGTG -3'
(R):5'- TGTGAGGTCATCCCCATCGTAGAAG -3'

Sequencing Primer
(F):5'- GCCACAGCTCAGTGTGATTG -3'
(R):5'- TCGTAGAAGGTCAGTACATCCC -3'
Posted On 2013-04-11