Incidental Mutation 'R3423:Sez6l'
ID 267111
Institutional Source Beutler Lab
Gene Symbol Sez6l
Ensembl Gene ENSMUSG00000058153
Gene Name seizure related 6 homolog like
Synonyms Acig1
MMRRC Submission 040641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3423 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 112567017-112725051 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112574615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 875 (D875G)
Ref Sequence ENSEMBL: ENSMUSP00000148791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075387] [ENSMUST00000079491] [ENSMUST00000197425] [ENSMUST00000212480] [ENSMUST00000212758]
AlphaFold Q6P1D5
Predicted Effect probably damaging
Transcript: ENSMUST00000075387
AA Change: D875G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074847
Gene: ENSMUSG00000058153
AA Change: D875G

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 47 59 N/A INTRINSIC
low complexity region 191 215 N/A INTRINSIC
CUB 221 329 3.62e-8 SMART
CCP 333 388 1.01e-11 SMART
CUB 392 502 3.75e-15 SMART
CCP 507 564 1.41e-10 SMART
CUB 568 679 4.87e-23 SMART
CCP 685 740 4.95e-15 SMART
CCP 746 805 3.07e-11 SMART
CCP 813 870 8.04e-15 SMART
low complexity region 880 891 N/A INTRINSIC
transmembrane domain 895 917 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000079491
AA Change: D875G

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078454
Gene: ENSMUSG00000058153
AA Change: D875G

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 47 59 N/A INTRINSIC
low complexity region 191 215 N/A INTRINSIC
CUB 221 329 3.62e-8 SMART
CCP 333 388 1.01e-11 SMART
CUB 392 502 3.75e-15 SMART
CCP 507 564 1.41e-10 SMART
CUB 568 679 4.87e-23 SMART
CCP 685 740 4.95e-15 SMART
CCP 746 805 3.07e-11 SMART
CCP 813 870 8.04e-15 SMART
low complexity region 878 892 N/A INTRINSIC
transmembrane domain 896 918 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197425
AA Change: D810G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143395
Gene: ENSMUSG00000058153
AA Change: D810G

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 47 59 N/A INTRINSIC
low complexity region 191 215 N/A INTRINSIC
CUB 221 329 3.62e-8 SMART
CCP 333 388 1.01e-11 SMART
CUB 392 502 3.75e-15 SMART
CCP 507 564 1.41e-10 SMART
CUB 568 679 4.87e-23 SMART
CCP 685 740 4.95e-15 SMART
CCP 746 805 3.07e-11 SMART
low complexity region 815 826 N/A INTRINSIC
transmembrane domain 830 852 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000200575
AA Change: D625G
Predicted Effect probably damaging
Transcript: ENSMUST00000212480
AA Change: D875G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000212758
Meta Mutation Damage Score 0.4125 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display slightly impaired coordination in the rotarod task. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8 A G 17: 32,535,429 (GRCm39) F195S possibly damaging Het
Aldh3a1 G A 11: 61,106,362 (GRCm39) A246T probably damaging Het
Caskin1 T A 17: 24,718,539 (GRCm39) N331K probably damaging Het
Ceacam5 G A 7: 17,491,562 (GRCm39) S644N possibly damaging Het
Csmd3 A T 15: 47,710,648 (GRCm39) D1646E probably damaging Het
Cyp4a12a A C 4: 115,184,471 (GRCm39) K282T probably benign Het
Dtnb C T 12: 3,641,962 (GRCm39) R42* probably null Het
Dyrk3 A G 1: 131,057,219 (GRCm39) I318T probably damaging Het
Fhip2b G A 14: 70,824,025 (GRCm39) T535M probably damaging Het
Gm11110 T C 17: 57,410,435 (GRCm39) probably benign Het
Gm8674 T A 13: 50,055,792 (GRCm39) noncoding transcript Het
Igfn1 A G 1: 135,926,379 (GRCm39) S24P probably benign Het
Inpp4b A G 8: 82,678,890 (GRCm39) M307V possibly damaging Het
Ism2 T C 12: 87,333,871 (GRCm39) N58S probably benign Het
Kmt2a A C 9: 44,731,394 (GRCm39) probably benign Het
Limk1 A G 5: 134,701,523 (GRCm39) probably null Het
Lrrc14 T A 15: 76,597,318 (GRCm39) probably null Het
Mapt C T 11: 104,189,548 (GRCm39) R189* probably null Het
Meltf C T 16: 31,715,343 (GRCm39) R679* probably null Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Mug2 T C 6: 122,024,465 (GRCm39) probably benign Het
Myo15a G A 11: 60,401,126 (GRCm39) probably null Het
Nup98 T C 7: 101,834,084 (GRCm39) T293A probably benign Het
Nwd2 A T 5: 63,957,504 (GRCm39) Y278F probably damaging Het
Or12d12 T A 17: 37,610,761 (GRCm39) D184V probably benign Het
Phactr4 A C 4: 132,097,058 (GRCm39) D496E probably benign Het
Pramel6 T A 2: 87,341,140 (GRCm39) probably null Het
Ptprq C T 10: 107,418,337 (GRCm39) A1680T probably damaging Het
Retnlb T A 16: 48,639,008 (GRCm39) C70S probably damaging Het
Ros1 C A 10: 52,004,512 (GRCm39) probably null Het
Slc18b1 T G 10: 23,698,874 (GRCm39) M348R probably damaging Het
Slc36a3 G T 11: 55,033,607 (GRCm39) T137K probably benign Het
Sos2 T C 12: 69,650,327 (GRCm39) N865D probably damaging Het
Sp9 G A 2: 73,104,315 (GRCm39) A290T probably benign Het
Spg11 C T 2: 121,901,534 (GRCm39) V1469I probably benign Het
Unc13c G T 9: 73,837,935 (GRCm39) A972D possibly damaging Het
Vwa3a T C 7: 120,398,334 (GRCm39) L945P probably damaging Het
Other mutations in Sez6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Sez6l APN 5 112,572,511 (GRCm39) missense probably damaging 1.00
IGL00494:Sez6l APN 5 112,610,869 (GRCm39) missense probably damaging 1.00
IGL00693:Sez6l APN 5 112,569,879 (GRCm39) missense probably damaging 1.00
IGL01146:Sez6l APN 5 112,576,275 (GRCm39) missense probably damaging 1.00
IGL01382:Sez6l APN 5 112,573,487 (GRCm39) missense probably benign 0.00
IGL01393:Sez6l APN 5 112,586,261 (GRCm39) splice site probably benign
IGL01961:Sez6l APN 5 112,619,597 (GRCm39) missense probably damaging 1.00
IGL02101:Sez6l APN 5 112,620,612 (GRCm39) missense probably damaging 1.00
IGL02104:Sez6l APN 5 112,574,630 (GRCm39) intron probably benign
IGL02316:Sez6l APN 5 112,610,828 (GRCm39) missense probably damaging 1.00
IGL02965:Sez6l APN 5 112,623,440 (GRCm39) missense probably damaging 0.99
IGL03102:Sez6l APN 5 112,623,269 (GRCm39) missense probably benign 0.02
IGL03112:Sez6l APN 5 112,621,333 (GRCm39) missense probably damaging 1.00
IGL03180:Sez6l APN 5 112,584,151 (GRCm39) missense probably damaging 1.00
ranger UTSW 5 112,724,678 (GRCm39) splice site probably null
R0245:Sez6l UTSW 5 112,623,432 (GRCm39) missense probably benign
R0662:Sez6l UTSW 5 112,621,288 (GRCm39) missense probably damaging 1.00
R1227:Sez6l UTSW 5 112,621,330 (GRCm39) missense probably damaging 1.00
R1605:Sez6l UTSW 5 112,622,915 (GRCm39) missense probably damaging 1.00
R1873:Sez6l UTSW 5 112,621,276 (GRCm39) splice site probably benign
R1878:Sez6l UTSW 5 112,623,089 (GRCm39) missense probably damaging 0.98
R1892:Sez6l UTSW 5 112,620,665 (GRCm39) missense probably damaging 1.00
R1961:Sez6l UTSW 5 112,572,481 (GRCm39) splice site probably benign
R2038:Sez6l UTSW 5 112,620,618 (GRCm39) missense possibly damaging 0.81
R2212:Sez6l UTSW 5 112,623,227 (GRCm39) missense possibly damaging 0.76
R2315:Sez6l UTSW 5 112,612,463 (GRCm39) missense probably benign 0.02
R2343:Sez6l UTSW 5 112,612,597 (GRCm39) missense probably damaging 1.00
R3412:Sez6l UTSW 5 112,623,227 (GRCm39) missense possibly damaging 0.76
R3413:Sez6l UTSW 5 112,623,227 (GRCm39) missense possibly damaging 0.76
R3425:Sez6l UTSW 5 112,574,615 (GRCm39) missense probably damaging 0.99
R4081:Sez6l UTSW 5 112,609,032 (GRCm39) missense probably benign 0.01
R4574:Sez6l UTSW 5 112,576,344 (GRCm39) missense probably damaging 1.00
R5792:Sez6l UTSW 5 112,569,890 (GRCm39) nonsense probably null
R5864:Sez6l UTSW 5 112,586,266 (GRCm39) critical splice donor site probably null
R6236:Sez6l UTSW 5 112,623,110 (GRCm39) missense possibly damaging 0.86
R6274:Sez6l UTSW 5 112,623,231 (GRCm39) nonsense probably null
R6466:Sez6l UTSW 5 112,609,007 (GRCm39) splice site probably null
R6574:Sez6l UTSW 5 112,724,692 (GRCm39) missense possibly damaging 0.89
R7008:Sez6l UTSW 5 112,612,561 (GRCm39) missense probably damaging 1.00
R7241:Sez6l UTSW 5 112,621,346 (GRCm39) missense probably benign
R7329:Sez6l UTSW 5 112,588,773 (GRCm39) missense probably damaging 0.99
R7335:Sez6l UTSW 5 112,724,678 (GRCm39) splice site probably null
R7502:Sez6l UTSW 5 112,623,347 (GRCm39) missense possibly damaging 0.89
R7870:Sez6l UTSW 5 112,586,447 (GRCm39) missense probably damaging 1.00
R8260:Sez6l UTSW 5 112,609,122 (GRCm39) missense probably benign 0.23
R8325:Sez6l UTSW 5 112,575,982 (GRCm39) splice site probably null
R8884:Sez6l UTSW 5 112,622,910 (GRCm39) missense probably damaging 1.00
R8897:Sez6l UTSW 5 112,588,744 (GRCm39) missense possibly damaging 0.94
R9071:Sez6l UTSW 5 112,573,603 (GRCm39) splice site probably benign
R9142:Sez6l UTSW 5 112,609,083 (GRCm39) missense probably benign 0.00
R9159:Sez6l UTSW 5 112,613,824 (GRCm39) missense possibly damaging 0.52
X0052:Sez6l UTSW 5 112,620,767 (GRCm39) missense possibly damaging 0.75
Z1088:Sez6l UTSW 5 112,588,781 (GRCm39) missense probably damaging 1.00
Z1177:Sez6l UTSW 5 112,724,798 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGTCCATAGGAACAAGCCAC -3'
(R):5'- CATGACACTGCGGATGCTTG -3'

Sequencing Primer
(F):5'- CTCACATGGGTGCTGGAAAC -3'
(R):5'- TGCGGATGCTTGCCCATC -3'
Posted On 2015-02-18