Incidental Mutation 'R6153:Sez6'
ID 489406
Institutional Source Beutler Lab
Gene Symbol Sez6
Ensembl Gene ENSMUSG00000000632
Gene Name seizure related gene 6
Synonyms sez-6, D11Bhm177e
MMRRC Submission 044300-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6153 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 77821626-77869874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77868648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 974 (D974G)
Ref Sequence ENSEMBL: ENSMUSP00000091532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000646] [ENSMUST00000049167] [ENSMUST00000093995] [ENSMUST00000108360]
AlphaFold Q7TSK2
Predicted Effect probably damaging
Transcript: ENSMUST00000000646
AA Change: D961G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000646
Gene: ENSMUSG00000000632
AA Change: D961G

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: ENSMUST00000049167
SMART Domains Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791

DomainStartEndE-ValueType
low complexity region 37 52 N/A INTRINSIC
PHD 58 103 7.23e-11 SMART
low complexity region 182 200 N/A INTRINSIC
Pfam:PHF12_MRG_bd 202 241 1.3e-21 PFAM
PHD 273 319 1.66e-10 SMART
low complexity region 616 630 N/A INTRINSIC
Blast:FHA 813 868 9e-34 BLAST
low complexity region 905 916 N/A INTRINSIC
low complexity region 927 939 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093995
AA Change: D974G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091532
Gene: ENSMUSG00000000632
AA Change: D974G

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: ENSMUST00000108360
SMART Domains Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791

DomainStartEndE-ValueType
low complexity region 37 52 N/A INTRINSIC
PHD 58 103 7.23e-11 SMART
low complexity region 182 200 N/A INTRINSIC
PDB:2L9S|A 201 241 2e-20 PDB
PHD 273 319 1.66e-10 SMART
low complexity region 616 630 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 noncoding transcript
Transcript: ENSMUST00000155087
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
Meta Mutation Damage Score 0.6282 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 99% (66/67)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,251,259 (GRCm39) probably null Het
Ache T C 5: 137,290,117 (GRCm39) I394T probably damaging Het
Acsm1 G A 7: 119,232,289 (GRCm39) G62D probably damaging Het
Actrt3 T A 3: 30,653,899 (GRCm39) I34F probably damaging Het
Adgrf5 T C 17: 43,761,974 (GRCm39) I1223T possibly damaging Het
Adora2a T C 10: 75,161,981 (GRCm39) F40S possibly damaging Het
Ano8 T C 8: 71,933,441 (GRCm39) probably benign Het
Arid1b T A 17: 5,293,107 (GRCm39) L675Q probably damaging Het
Atg2b T C 12: 105,589,741 (GRCm39) I1837V possibly damaging Het
Atp10b A G 11: 43,145,109 (GRCm39) Y1284C probably damaging Het
B3gnt7 G T 1: 86,233,237 (GRCm39) G44V probably damaging Het
Chrna1 G T 2: 73,403,653 (GRCm39) H99N probably benign Het
Cnksr1 T C 4: 133,961,204 (GRCm39) H220R probably damaging Het
Cpsf2 T A 12: 101,965,619 (GRCm39) probably null Het
Daglb T C 5: 143,489,096 (GRCm39) L651P probably benign Het
Ddx60 A G 8: 62,398,974 (GRCm39) D231G possibly damaging Het
Ehd4 A C 2: 119,932,904 (GRCm39) F174C probably damaging Het
Emsy G T 7: 98,260,060 (GRCm39) P9T probably damaging Het
Fnbp1l T C 3: 122,352,805 (GRCm39) E217G probably benign Het
Gm11596 A T 11: 99,683,524 (GRCm39) C199S unknown Het
Gmps T G 3: 63,908,964 (GRCm39) C489G probably benign Het
Gpsm1 T C 2: 26,215,425 (GRCm39) Y296H probably benign Het
Heatr5b T C 17: 79,138,870 (GRCm39) T91A possibly damaging Het
Hs3st3b1 A T 11: 63,780,324 (GRCm39) W268R probably damaging Het
Il27ra T C 8: 84,758,773 (GRCm39) probably null Het
Itga5 T A 15: 103,265,880 (GRCm39) I156F probably damaging Het
Kcnmb3 T A 3: 32,527,976 (GRCm39) D96V probably damaging Het
Khdrbs1 T A 4: 129,609,965 (GRCm39) N417Y probably damaging Het
Loxhd1 A G 18: 77,383,454 (GRCm39) N118D possibly damaging Het
Mdm4 A G 1: 132,919,845 (GRCm39) L341P probably damaging Het
Mecom T C 3: 30,047,797 (GRCm39) E225G possibly damaging Het
Megf8 G A 7: 25,046,796 (GRCm39) G1560S possibly damaging Het
Mfsd13a A T 19: 46,356,321 (GRCm39) D142V probably damaging Het
Muc5b A T 7: 141,415,181 (GRCm39) Y2709F possibly damaging Het
Nelfa A T 5: 34,056,223 (GRCm39) I480N probably damaging Het
Or10ak8 G A 4: 118,773,944 (GRCm39) S240F probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Palld G T 8: 62,003,186 (GRCm39) N304K probably damaging Het
Pcsk5 A G 19: 17,488,856 (GRCm39) L988P probably damaging Het
Prmt1 A T 7: 44,631,251 (GRCm39) F34I probably damaging Het
Pzp A G 6: 128,465,979 (GRCm39) S1234P probably benign Het
Ralb A T 1: 119,405,870 (GRCm39) probably null Het
Robo2 T A 16: 73,717,617 (GRCm39) D141V probably damaging Het
Rsrc1 T C 3: 67,262,895 (GRCm39) I283T probably benign Het
Sec62 A T 3: 30,864,631 (GRCm39) K165M unknown Het
Shc2 T A 10: 79,465,752 (GRCm39) I187F possibly damaging Het
Shroom3 G A 5: 93,112,267 (GRCm39) R1876Q probably damaging Het
Siglecg C A 7: 43,061,441 (GRCm39) N481K possibly damaging Het
Skil T A 3: 31,152,002 (GRCm39) F175I probably damaging Het
Slc1a1 T C 19: 28,886,935 (GRCm39) V432A probably damaging Het
Slit3 G T 11: 35,591,310 (GRCm39) G1374V possibly damaging Het
Snx14 T C 9: 88,273,859 (GRCm39) Y644C probably damaging Het
Snx33 T A 9: 56,833,983 (GRCm39) I29F possibly damaging Het
Sos1 T A 17: 80,756,764 (GRCm39) I263L probably benign Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tbpl2 C A 2: 23,966,028 (GRCm39) V320F probably damaging Het
Tmem209 A G 6: 30,505,794 (GRCm39) S171P probably benign Het
Tprkb T A 6: 85,893,172 (GRCm39) probably null Het
Tspan11 G A 6: 127,916,061 (GRCm39) S119N probably benign Het
Ulk2 A T 11: 61,672,572 (GRCm39) V922D probably damaging Het
Zfp267 A G 3: 36,219,303 (GRCm39) H442R possibly damaging Het
Zfp976 A C 7: 42,263,610 (GRCm39) Y76D probably damaging Het
Zkscan2 G A 7: 123,088,993 (GRCm39) T426I 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
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'- CCAGGTGAGTCTGGCTTTTC -3'
(R):5'- CTCCCACCTAGATGGAAACTTC -3'

Sequencing Primer
(F):5'- GGTGAGTCTGGCTTTTCTTCCTATTC -3'
(R):5'- TCTCTCGTCTCCTGCAAAGGAAAG -3'
Posted On 2017-10-10