Incidental Mutation 'R7289:Sez6'
ID 566256
Institutional Source Beutler Lab
Gene Symbol Sez6
Ensembl Gene ENSMUSG00000000632
Gene Name seizure related gene 6
Synonyms sez-6, D11Bhm177e
MMRRC Submission 045396-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7289 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 77821626-77869874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77865149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 632 (I632N)
Ref Sequence ENSEMBL: ENSMUSP00000091532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000646] [ENSMUST00000093995]
AlphaFold Q7TSK2
Predicted Effect possibly damaging
Transcript: ENSMUST00000000646
AA Change: I632N

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: I632N

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 possibly damaging
Transcript: ENSMUST00000093995
AA Change: I632N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: I632N

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
SMART Domains Protein: ENSMUSP00000115660
Gene: ENSMUSG00000000632
AA Change: I259N

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 possibly damaging
Transcript: ENSMUST00000151982
AA Change: S447T

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132041
Gene: ENSMUSG00000000632
AA Change: S447T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,818,550 (GRCm39) D112N probably damaging Het
Abca7 T A 10: 79,845,778 (GRCm39) I1580K probably damaging Het
Aebp1 A G 11: 5,815,059 (GRCm39) D234G probably damaging Het
Agap1 T A 1: 89,383,153 (GRCm39) M1K probably null Het
Agrn A T 4: 156,263,389 (GRCm39) L345H probably damaging Het
Amfr A G 8: 94,725,754 (GRCm39) M209T possibly damaging Het
Angel2 G A 1: 190,673,371 (GRCm39) R338H possibly damaging Het
Ankrd27 C T 7: 35,330,674 (GRCm39) A866V probably damaging Het
Apc G A 18: 34,448,324 (GRCm39) R1740Q probably damaging Het
Arhgap32 A T 9: 32,168,233 (GRCm39) S739C possibly damaging Het
Arhgap32 G C 9: 32,168,234 (GRCm39) S739T probably benign Het
Arhgef2 C T 3: 88,543,192 (GRCm39) S418L probably benign Het
Arhgef25 T C 10: 127,019,641 (GRCm39) T472A possibly damaging Het
Atrnl1 C T 19: 57,638,846 (GRCm39) S328F probably benign Het
Bahcc1 C T 11: 120,171,000 (GRCm39) A1514V probably benign Het
Calcoco2 C T 11: 95,990,823 (GRCm39) E305K unknown Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdc42bpa A T 1: 179,889,362 (GRCm39) K203* probably null Het
Cmc1 A T 9: 117,904,250 (GRCm39) I47N possibly damaging Het
Cntln A G 4: 84,964,540 (GRCm39) E656G possibly damaging Het
Dcun1d3 T C 7: 119,458,864 (GRCm39) K57R possibly damaging Het
Ddx23 T C 15: 98,546,492 (GRCm39) E559G probably damaging Het
Dennd6a G A 14: 26,333,193 (GRCm39) R367Q probably damaging Het
Desi2 A T 1: 178,083,702 (GRCm39) probably benign Het
Dido1 T C 2: 180,301,424 (GRCm39) D2160G unknown Het
Efcab3 T C 11: 104,929,184 (GRCm39) M4838T probably benign Het
Epb41 A G 4: 131,718,520 (GRCm39) probably null Het
Esrrb T A 12: 86,517,331 (GRCm39) probably null Het
Fabp1 C A 6: 71,180,111 (GRCm39) T94N probably benign Het
Fam120a A T 13: 49,045,482 (GRCm39) C785S probably damaging Het
Fam243 T C 16: 92,117,710 (GRCm39) I193V probably damaging Het
Foxc1 A G 13: 31,991,243 (GRCm39) Y18C probably damaging Het
Fshr T C 17: 89,293,272 (GRCm39) T469A probably benign Het
Gm14399 T A 2: 174,972,204 (GRCm39) H517L unknown Het
Gm39115 G T 7: 141,689,297 (GRCm39) Q159K unknown Het
Gm7347 T A 5: 26,262,306 (GRCm39) I72F possibly damaging Het
Hmcn1 A G 1: 150,559,466 (GRCm39) V2395A possibly damaging Het
Ighv5-17 T G 12: 113,822,858 (GRCm39) T88P probably damaging Het
Insm2 T A 12: 55,647,329 (GRCm39) Y358N probably damaging Het
Kazn A T 4: 141,844,486 (GRCm39) L409Q Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Kcnv2 A T 19: 27,311,084 (GRCm39) T484S probably damaging Het
Kdm3b T C 18: 34,927,557 (GRCm39) Y140H probably benign Het
Kifbp A C 10: 62,401,895 (GRCm39) C261W probably damaging Het
Krt25 C T 11: 99,212,098 (GRCm39) A180T probably benign Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Nr3c1 T C 18: 39,547,654 (GRCm39) T755A probably benign Het
Nr3c1 A T 18: 39,555,786 (GRCm39) I517N probably benign Het
Nxpe2 A G 9: 48,234,339 (GRCm39) probably null Het
Oaz1 C A 10: 80,662,673 (GRCm39) T27K possibly damaging Het
Or4p7 A T 2: 88,222,050 (GRCm39) H153L probably damaging Het
Or51f5 T C 7: 102,424,634 (GRCm39) I301T probably damaging Het
Or5t5 G T 2: 86,617,034 (GRCm39) C320F probably benign Het
Or6z3 T A 7: 6,463,777 (GRCm39) W90R probably benign Het
Or8k21 A G 2: 86,145,369 (GRCm39) M87T probably benign Het
Or8s5 A G 15: 98,237,943 (GRCm39) V309A probably damaging Het
Pafah2 A T 4: 134,147,308 (GRCm39) K319M probably damaging Het
Pask A T 1: 93,259,309 (GRCm39) V236E probably damaging Het
Pcdh1 T C 18: 38,322,966 (GRCm39) T956A probably damaging Het
Pcdhb18 C A 18: 37,623,700 (GRCm39) N343K probably damaging Het
Pcsk2 A T 2: 143,532,343 (GRCm39) I164F probably damaging Het
Phf1 T C 17: 27,154,289 (GRCm39) Y169H probably damaging Het
Pkdrej T A 15: 85,705,301 (GRCm39) I212F probably benign Het
Pnkp T A 7: 44,508,114 (GRCm39) W146R probably damaging Het
Prkcb A T 7: 122,143,910 (GRCm39) I325F probably benign Het
Ptpn21 C T 12: 98,670,450 (GRCm39) D239N probably benign Het
Ptprb A G 10: 116,164,070 (GRCm39) T626A probably damaging Het
Pttg1 T C 11: 43,311,916 (GRCm39) N180D probably benign Het
Raly G A 2: 154,703,774 (GRCm39) R115Q probably damaging Het
Rims2 A T 15: 39,301,114 (GRCm39) M474L probably benign Het
Sash1 A T 10: 8,605,960 (GRCm39) I810N probably damaging Het
Scnn1g T A 7: 121,337,304 (GRCm39) L55* probably null Het
Sema6b A T 17: 56,432,573 (GRCm39) D543E possibly damaging Het
Serpina11 C T 12: 103,952,761 (GRCm39) G5E unknown Het
Sesn3 A T 9: 14,187,848 (GRCm39) M1L probably benign Het
Sgo2b A T 8: 64,394,192 (GRCm39) I49N probably damaging Het
Slc30a2 A T 4: 134,071,524 (GRCm39) I86F possibly damaging Het
Slc38a6 T A 12: 73,333,786 (GRCm39) W30R probably benign Het
Spata31g1 A T 4: 42,972,379 (GRCm39) T571S probably benign Het
Spata31g1 A T 4: 42,973,252 (GRCm39) I862F possibly damaging Het
Stk31 T G 6: 49,415,393 (GRCm39) V576G probably benign Het
Szt2 G A 4: 118,233,075 (GRCm39) T2297I unknown Het
Tmem208 T C 8: 106,061,418 (GRCm39) F148S possibly damaging Het
Tprg1l A G 4: 154,245,031 (GRCm39) L19P possibly damaging Het
Tubg2 C A 11: 101,050,897 (GRCm39) N207K probably damaging Het
Ube2n G T 10: 95,377,612 (GRCm39) K130N probably benign Het
Usp36 T C 11: 118,164,355 (GRCm39) Y384C probably damaging Het
Vcan A T 13: 89,840,852 (GRCm39) L1564* probably null Het
Xkr6 A T 14: 64,035,748 (GRCm39) D283V unknown Het
Zfp654 T C 16: 64,605,523 (GRCm39) H352R probably benign Het
Zfp819 T A 7: 43,266,506 (GRCm39) C330S probably damaging Het
Zfp970 G T 2: 177,167,086 (GRCm39) C220F probably damaging 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
R0089:Sez6 UTSW 11 77,865,170 (GRCm39) splice site probably benign
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
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'- ACCATATTGGAGAGGATGCGC -3'
(R):5'- AAGAGCTTGAAGTGGCCAC -3'

Sequencing Primer
(F):5'- TGGTGCTCTCTCCAAACT -3'
(R):5'- TGAGTATTGGCCCAGGACC -3'
Posted On 2019-06-26