Incidental Mutation 'R9169:Sez6'
ID 696290
Institutional Source Beutler Lab
Gene Symbol Sez6
Ensembl Gene ENSMUSG00000000632
Gene Name seizure related gene 6
Synonyms sez-6, D11Bhm177e
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9169 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 77821626-77869874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 77868473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 945 (F945V)
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: F932V

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: F932V

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 damaging
Transcript: ENSMUST00000093995
AA Change: F945V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: F945V

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 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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (92/92)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A T 7: 41,261,109 (GRCm39) probably benign Het
9330182O14Rik A T 15: 40,005,632 (GRCm39) K17* probably null Het
Adamtsl3 A C 7: 82,223,188 (GRCm39) I990L probably damaging Het
Add1 T A 5: 34,788,122 (GRCm39) S724T possibly damaging Het
Afdn A G 17: 14,072,627 (GRCm39) N865S probably benign Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Ap1m2 T A 9: 21,223,523 (GRCm39) I8F probably benign Het
Atp8a1 T C 5: 67,824,944 (GRCm39) T811A Het
Axin2 A G 11: 108,822,378 (GRCm39) D310G probably damaging Het
Bin1 T G 18: 32,562,251 (GRCm39) F379L possibly damaging Het
Bin2 C A 15: 100,554,631 (GRCm39) S91I possibly damaging Het
Birc5 A G 11: 117,743,599 (GRCm39) N111S probably benign Het
Blk T A 14: 63,620,130 (GRCm39) N137Y probably damaging Het
Cacna1d G A 14: 29,796,873 (GRCm39) A1534V probably damaging Het
Cacna2d1 T C 5: 16,451,757 (GRCm39) V207A probably damaging Het
Ccr3 A G 9: 123,828,949 (GRCm39) I95V probably benign Het
Celsr2 T C 3: 108,309,862 (GRCm39) D1579G probably benign Het
Cfap36 C A 11: 29,196,541 (GRCm39) K19N probably benign Het
Cfap52 C T 11: 67,844,860 (GRCm39) V70M possibly damaging Het
Chid1 A T 7: 141,093,722 (GRCm39) I298N probably damaging Het
Clstn1 G T 4: 149,731,322 (GRCm39) R888L possibly damaging Het
Col6a5 T A 9: 105,822,596 (GRCm39) T254S unknown Het
Coro6 C T 11: 77,359,329 (GRCm39) P301S probably damaging Het
Cstdc2 A G 2: 148,692,589 (GRCm39) probably null Het
Dchs1 T C 7: 105,422,114 (GRCm39) D102G probably damaging Het
Dnah14 T C 1: 181,433,381 (GRCm39) F353L probably benign Het
Dnajc10 A T 2: 80,163,315 (GRCm39) I344L probably benign Het
Dst T C 1: 34,303,652 (GRCm39) V4026A probably damaging Het
Exo1 A G 1: 175,715,203 (GRCm39) E114G possibly damaging Het
Fabp7 A G 10: 57,662,439 (GRCm39) I109V probably benign Het
Fars2 T C 13: 36,416,109 (GRCm39) F206S probably damaging Het
Gbp8 C T 5: 105,179,155 (GRCm39) A115T possibly damaging Het
Gm17067 T C 7: 42,357,627 (GRCm39) T292A probably benign Het
Gp2 T C 7: 119,041,929 (GRCm39) D532G probably benign Het
Gtf2i C A 5: 134,271,534 (GRCm39) A917S probably damaging Het
Guca1b A G 17: 47,702,827 (GRCm39) E169G possibly damaging Het
Hdac1 A T 4: 129,428,499 (GRCm39) Y24N probably damaging Het
Hepacam T C 9: 37,293,693 (GRCm39) F251L probably damaging Het
Hmcn1 G T 1: 150,506,092 (GRCm39) N3811K probably damaging Het
Htra4 A T 8: 25,520,133 (GRCm39) M391K probably damaging Het
Ino80d T C 1: 63,097,930 (GRCm39) T760A probably benign Het
Ints1 T G 5: 139,748,586 (GRCm39) T1074P probably benign Het
Itga6 A T 2: 71,647,015 (GRCm39) Q75L possibly damaging Het
Mapk14 A C 17: 28,960,814 (GRCm39) N272T probably benign Het
Meikin A T 11: 54,285,517 (GRCm39) T185S possibly damaging Het
Moxd2 C T 6: 40,860,490 (GRCm39) G318D possibly damaging Het
Mtmr3 G A 11: 4,437,739 (GRCm39) T905I probably benign Het
Muc16 A G 9: 18,567,824 (GRCm39) I1565T unknown Het
Myh14 A G 7: 44,271,281 (GRCm39) S1500P possibly damaging Het
Nfkb1 T C 3: 135,310,874 (GRCm39) E475G probably benign Het
Ngef C A 1: 87,473,581 (GRCm39) R67L probably benign Het
Olr1 T C 6: 129,470,528 (GRCm39) E213G probably damaging Het
Or13c3 T A 4: 52,856,052 (GRCm39) I154F probably damaging Het
Or5b124 A G 19: 13,610,903 (GRCm39) I143V probably benign Het
Or8g21 A G 9: 38,906,573 (GRCm39) S53P probably benign Het
Or9r3 A C 10: 129,947,723 (GRCm39) I312R probably benign Het
Pcdhga3 C T 18: 37,809,088 (GRCm39) L514F probably damaging Het
Pcnt A G 10: 76,221,572 (GRCm39) M2018T possibly damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pik3ca T C 3: 32,503,755 (GRCm39) probably null Het
Psapl1 A G 5: 36,362,880 (GRCm39) S491G possibly damaging Het
Psmf1 A T 2: 151,577,457 (GRCm39) D73E probably benign Het
Ptprcap A G 19: 4,206,358 (GRCm39) D147G probably benign Het
Ramacl T C 13: 67,056,063 (GRCm39) F19L probably damaging Het
Rdh8 T A 9: 20,736,935 (GRCm39) V309E possibly damaging Het
Rhobtb3 T A 13: 76,041,121 (GRCm39) T396S probably benign Het
Rpa1 A T 11: 75,200,999 (GRCm39) L475* probably null Het
Rtkn T A 6: 83,129,190 (GRCm39) S562T probably damaging Het
Saxo5 A T 8: 3,525,967 (GRCm39) Y40F possibly damaging Het
Scamp1 C T 13: 94,389,533 (GRCm39) D35N probably benign Het
Scarb1 C T 5: 125,371,146 (GRCm39) A309T probably damaging Het
Scube1 G A 15: 83,543,298 (GRCm39) T180M possibly damaging Het
Sf3a1 C T 11: 4,116,681 (GRCm39) T124M probably benign Het
Smchd1 T C 17: 71,722,659 (GRCm39) K759E probably damaging Het
Sort1 C A 3: 108,247,994 (GRCm39) C446* probably null Het
Sun1 T A 5: 139,219,273 (GRCm39) S360T probably benign Het
Supv3l1 A G 10: 62,268,238 (GRCm39) F536L probably damaging Het
Taar6 A C 10: 23,861,273 (GRCm39) V91G probably damaging Het
Themis C A 10: 28,658,233 (GRCm39) T420N probably benign Het
Thoc2l T A 5: 104,666,348 (GRCm39) L290H probably damaging Het
Tmc2 T A 2: 130,083,516 (GRCm39) I491N probably damaging Het
Trmt112 T C 19: 6,888,187 (GRCm39) I113T probably damaging Het
Ttc14 C T 3: 33,857,071 (GRCm39) Q183* probably null Het
Txndc16 T A 14: 45,373,385 (GRCm39) D748V probably damaging Het
Xkr6 A G 14: 63,844,067 (GRCm39) D30G possibly damaging Het
Zc3h14 C T 12: 98,745,505 (GRCm39) S498L probably damaging Het
Zc3h7b A C 15: 81,661,184 (GRCm39) D341A probably benign Het
Zfp108 T A 7: 23,960,923 (GRCm39) C505S probably damaging Het
Zfp354c A C 11: 50,706,088 (GRCm39) L329R probably damaging Het
Zfyve16 T A 13: 92,657,871 (GRCm39) D680V probably damaging Het
Znfx1 A G 2: 166,897,185 (GRCm39) F580L 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
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
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
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'- TGTCTACCATAGGCAGCTAATGG -3'
(R):5'- TCAAATGCTGACTCTACCGTG -3'

Sequencing Primer
(F):5'- GAGCTGGTCTCCAAATGTCTTTAAG -3'
(R):5'- ATGCTGACTCTACCGTGATGCG -3'
Posted On 2022-02-07