Incidental Mutation 'IGL02332:Sez6'
ID288753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sez6
Ensembl Gene ENSMUSG00000000632
Gene Nameseizure related gene 6
SynonymsD11Bhm177e, sez-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #IGL02332
Quality Score
Status
Chromosome11
Chromosomal Location77930800-77979048 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 77954742 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000000646] [ENSMUST00000093995]
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: ENSMUST00000138346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138749
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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,608,888 noncoding transcript Het
Abca13 A T 11: 9,291,482 Y1115F probably damaging Het
Adam29 T A 8: 55,871,740 I560F probably damaging Het
Bivm T C 1: 44,128,720 probably benign Het
Brinp1 C A 4: 68,904,884 R24L probably benign Het
Cnga1 A G 5: 72,604,486 Y562H probably damaging Het
Cr2 C A 1: 195,160,322 Q256H probably benign Het
Dhcr7 A T 7: 143,843,128 N119I probably damaging Het
Dio1 A T 4: 107,293,781 Y169N probably damaging Het
Dmbt1 C T 7: 131,066,613 probably benign Het
Eogt T G 6: 97,125,605 H249P probably damaging Het
Ermard A C 17: 14,990,545 probably null Het
Exoc4 T C 6: 33,249,240 probably null Het
Fxr2 G T 11: 69,649,838 probably null Het
Glyr1 G T 16: 5,018,953 T443N probably damaging Het
Gm14137 T G 2: 119,175,326 L122R probably damaging Het
Gm4845 C A 1: 141,256,597 noncoding transcript Het
Gm8258 A G 5: 104,775,902 noncoding transcript Het
Gmps G A 3: 63,990,569 R258H probably benign Het
Itga6 T G 2: 71,838,373 L552R possibly damaging Het
Itgam T A 7: 128,085,674 probably null Het
Itgb5 G T 16: 33,920,130 E224* probably null Het
Itih4 C A 14: 30,887,860 A49D probably damaging Het
Itpr2 A T 6: 146,426,542 N64K probably damaging Het
Moap1 T C 12: 102,742,807 Y161C probably benign Het
Mst1r G T 9: 107,907,826 G228* probably null Het
Myo1g T C 11: 6,520,766 D30G possibly damaging Het
Ndn T A 7: 62,348,825 C140S probably damaging Het
Nek5 G T 8: 22,095,261 Q367K probably benign Het
Nrd1 A T 4: 109,000,988 R52S probably damaging Het
Nup133 A T 8: 123,907,832 L1007Q probably damaging Het
Olfr1105 T C 2: 87,034,212 D3G probably benign Het
Olfr633 T C 7: 103,946,920 M118T probably damaging Het
Olfr74 A T 2: 87,974,065 L200Q probably damaging Het
P2rx2 T C 5: 110,341,805 S116G probably benign Het
Pcdhb13 G A 18: 37,443,582 V338M probably benign Het
Pdcl2 A T 5: 76,319,135 Y70* probably null Het
Ppm1e T C 11: 87,231,742 H463R probably benign Het
Ppm1f T A 16: 16,914,087 C134S possibly damaging Het
Ppp2r3a A G 9: 101,180,403 F180L possibly damaging Het
Pxn A G 5: 115,544,926 S96G probably benign Het
Rasa4 G T 5: 136,095,599 Q167H probably benign Het
Rfx8 T C 1: 39,718,480 I43V possibly damaging Het
Slc39a6 A T 18: 24,589,823 D473E probably benign Het
Spocd1 A G 4: 129,949,092 D68G probably damaging Het
Syt13 T C 2: 92,940,804 F79L probably benign Het
Tas2r103 A T 6: 133,036,512 M197K probably benign Het
Tbrg4 A G 11: 6,618,492 V429A probably damaging Het
Tuft1 A C 3: 94,615,768 probably null Het
Uqcrc1 A G 9: 108,947,869 T80A probably damaging Het
Vps18 A G 2: 119,293,810 N406S probably benign Het
Xrn2 T A 2: 147,026,590 W188R probably damaging Het
Zzef1 T G 11: 72,916,509 S2738A probably benign Het
Other mutations in Sez6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Sez6 APN 11 77977289 splice site probably benign
IGL01142:Sez6 APN 11 77973816 missense probably damaging 1.00
IGL02252:Sez6 APN 11 77974513 missense probably damaging 1.00
IGL02366:Sez6 APN 11 77976882 missense probably damaging 0.98
IGL02479:Sez6 APN 11 77978026 missense possibly damaging 0.84
IGL02963:Sez6 APN 11 77962949 missense possibly damaging 0.93
R0054:Sez6 UTSW 11 77953873 missense possibly damaging 0.94
R0054:Sez6 UTSW 11 77953873 missense possibly damaging 0.94
R0089:Sez6 UTSW 11 77974344 splice site probably benign
R0485:Sez6 UTSW 11 77953813 missense probably damaging 1.00
R0598:Sez6 UTSW 11 77977821 missense possibly damaging 0.88
R0729:Sez6 UTSW 11 77976585 missense probably benign 0.01
R1117:Sez6 UTSW 11 77974514 missense probably damaging 1.00
R1199:Sez6 UTSW 11 77953885 missense probably benign
R1534:Sez6 UTSW 11 77963045 missense probably damaging 1.00
R1835:Sez6 UTSW 11 77953503 missense probably benign
R1840:Sez6 UTSW 11 77953717 missense possibly damaging 0.79
R1929:Sez6 UTSW 11 77972932 missense probably damaging 1.00
R1970:Sez6 UTSW 11 77954068 critical splice donor site probably null
R3156:Sez6 UTSW 11 77953779 missense possibly damaging 0.63
R3930:Sez6 UTSW 11 77976882 missense probably damaging 0.98
R3931:Sez6 UTSW 11 77976882 missense probably damaging 0.98
R4894:Sez6 UTSW 11 77975260 missense probably damaging 1.00
R4904:Sez6 UTSW 11 77975254 missense probably damaging 1.00
R5026:Sez6 UTSW 11 77968989 missense probably damaging 1.00
R5040:Sez6 UTSW 11 77969089 critical splice donor site probably null
R5057:Sez6 UTSW 11 77973153 missense probably damaging 1.00
R5093:Sez6 UTSW 11 77976562 missense possibly damaging 0.88
R5640:Sez6 UTSW 11 77973759 intron probably benign
R6013:Sez6 UTSW 11 77973797 missense probably damaging 1.00
R6126:Sez6 UTSW 11 77973804 missense probably damaging 1.00
R6153:Sez6 UTSW 11 77977822 missense probably damaging 0.99
R6279:Sez6 UTSW 11 77976541 missense possibly damaging 0.63
R6300:Sez6 UTSW 11 77976541 missense possibly damaging 0.63
R6475:Sez6 UTSW 11 77973844
R6722:Sez6 UTSW 11 77953702 missense probably damaging 1.00
R6897:Sez6 UTSW 11 77953559 missense probably damaging 1.00
R6910:Sez6 UTSW 11 77953869 missense possibly damaging 0.85
R7012:Sez6 UTSW 11 77977795 missense probably benign 0.04
R7233:Sez6 UTSW 11 77973137 missense probably damaging 1.00
R7265:Sez6 UTSW 11 77962865 missense probably damaging 0.96
R7289:Sez6 UTSW 11 77974323 missense possibly damaging 0.96
R7405:Sez6 UTSW 11 77962891 missense probably benign 0.10
R7408:Sez6 UTSW 11 77953530 missense probably damaging 1.00
R7485:Sez6 UTSW 11 77973885 missense probably benign 0.01
R7592:Sez6 UTSW 11 77978050 missense probably damaging 0.99
R7778:Sez6 UTSW 11 77974549 missense probably damaging 1.00
R7793:Sez6 UTSW 11 77977600 missense probably damaging 1.00
R7818:Sez6 UTSW 11 77976902 missense probably damaging 1.00
R7824:Sez6 UTSW 11 77974549 missense probably damaging 1.00
R8008:Sez6 UTSW 11 77973256 nonsense probably null
X0013:Sez6 UTSW 11 77954780 missense probably benign 0.01
X0067:Sez6 UTSW 11 77974438 critical splice acceptor site probably null
Z1088:Sez6 UTSW 11 77973197 missense possibly damaging 0.95
Posted On2015-04-16