Incidental Mutation 'IGL00417:Sept2'
ID7409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sept2
Ensembl Gene ENSMUSG00000026276
Gene Nameseptin 2
SynonymsNedd5
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.919) question?
Stock #IGL00417
Quality Score
Status
Chromosome1
Chromosomal Location93478964-93510260 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93499142 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 158 (H158Y)
Ref Sequence ENSEMBL: ENSMUSP00000136366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027495] [ENSMUST00000112912] [ENSMUST00000129211] [ENSMUST00000131175] [ENSMUST00000136182] [ENSMUST00000142401] [ENSMUST00000149532] [ENSMUST00000150931] [ENSMUST00000153826] [ENSMUST00000168776] [ENSMUST00000172165] [ENSMUST00000179353]
Predicted Effect probably damaging
Transcript: ENSMUST00000027495
AA Change: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: H158Y

DomainStartEndE-ValueType
Pfam:Septin 34 313 1.1e-129 PFAM
Pfam:MMR_HSR1 39 242 3.2e-8 PFAM
low complexity region 330 348 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112912
AA Change: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276
AA Change: H158Y

DomainStartEndE-ValueType
Pfam:Septin 34 221 4.8e-87 PFAM
Pfam:AIG1 38 130 1.1e-6 PFAM
Pfam:MMR_HSR1 39 213 1.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000129211
AA Change: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276
AA Change: H158Y

DomainStartEndE-ValueType
Pfam:Septin 34 213 4.9e-85 PFAM
Pfam:AIG1 38 131 9.9e-7 PFAM
Pfam:MMR_HSR1 39 211 1.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131175
AA Change: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276
AA Change: H158Y

DomainStartEndE-ValueType
Pfam:Septin 34 212 6.5e-85 PFAM
Pfam:AIG1 38 131 9.8e-7 PFAM
Pfam:MMR_HSR1 39 211 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136182
SMART Domains Protein: ENSMUSP00000118621
Gene: ENSMUSG00000026276

DomainStartEndE-ValueType
Pfam:AIG1 1 96 1.4e-6 PFAM
Pfam:MMR_HSR1 1 103 1.3e-8 PFAM
Pfam:Septin 1 107 6.4e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142401
SMART Domains Protein: ENSMUSP00000121974
Gene: ENSMUSG00000026276

DomainStartEndE-ValueType
Pfam:Septin 64 177 4.9e-49 PFAM
Pfam:AIG1 68 159 2.3e-7 PFAM
Pfam:MMR_HSR1 69 172 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149532
SMART Domains Protein: ENSMUSP00000115536
Gene: ENSMUSG00000026276

DomainStartEndE-ValueType
Pfam:Septin 34 120 7e-35 PFAM
Pfam:GTP_EFTU 37 110 9.5e-6 PFAM
Pfam:AIG1 38 120 3.4e-7 PFAM
Pfam:Ras 39 115 1.2e-5 PFAM
Pfam:MMR_HSR1 39 118 2.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150931
AA Change: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276
AA Change: H158Y

DomainStartEndE-ValueType
Pfam:Septin 34 221 4.8e-87 PFAM
Pfam:AIG1 38 130 1.1e-6 PFAM
Pfam:MMR_HSR1 39 213 1.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152778
Predicted Effect probably benign
Transcript: ENSMUST00000153826
SMART Domains Protein: ENSMUSP00000114614
Gene: ENSMUSG00000026276

DomainStartEndE-ValueType
Pfam:Septin 34 77 4.7e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168776
AA Change: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: H158Y

DomainStartEndE-ValueType
Pfam:Septin 34 313 1.4e-129 PFAM
Pfam:MMR_HSR1 39 240 1.2e-8 PFAM
low complexity region 330 348 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172165
AA Change: H118Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: H118Y

DomainStartEndE-ValueType
Pfam:MMR_HSR1 1 203 5.8e-8 PFAM
Pfam:Septin 1 273 1.5e-125 PFAM
coiled coil region 277 308 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179353
AA Change: H158Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: H158Y

DomainStartEndE-ValueType
Pfam:Septin 34 313 1.1e-129 PFAM
Pfam:MMR_HSR1 39 242 3.2e-8 PFAM
low complexity region 330 348 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,423,759 I39M probably benign Het
Acoxl G A 2: 127,978,804 C92Y probably damaging Het
Actl6b G T 5: 137,554,637 R76L probably damaging Het
Ank T C 15: 27,544,351 M66T possibly damaging Het
C6 C T 15: 4,759,967 A298V possibly damaging Het
Clip4 A T 17: 71,849,942 N591Y probably damaging Het
Cntnap5b T C 1: 100,050,754 I165T probably damaging Het
Dennd1b G A 1: 139,062,940 R214H probably damaging Het
Eri2 G A 7: 119,787,741 T185I probably benign Het
Fbxo33 A G 12: 59,202,670 V476A probably damaging Het
Fer1l4 G A 2: 156,019,920 R1826* probably null Het
Fyb A T 15: 6,580,777 K277I probably damaging Het
Gli3 C A 13: 15,644,299 H229N probably damaging Het
Hmcn1 T C 1: 150,677,278 I2554V probably benign Het
Maml2 A T 9: 13,621,604 probably benign Het
Map4k4 T C 1: 40,014,532 F930L possibly damaging Het
Mmadhc T C 2: 50,289,031 D125G probably benign Het
Nipbl A G 15: 8,366,673 S139P probably damaging Het
Obscn A G 11: 59,006,788 L6647P unknown Het
Ppara C A 15: 85,801,067 H406N probably benign Het
Psg27 T A 7: 18,561,917 H201L probably benign Het
Qser1 A T 2: 104,786,903 I1188N probably damaging Het
Rc3h1 T C 1: 160,955,981 probably null Het
Snx9 C A 17: 5,891,897 Q100K probably benign Het
Spata5 A G 3: 37,451,802 I677V possibly damaging Het
Thnsl2 G A 6: 71,131,900 T309I probably damaging Het
Thsd7b A G 1: 129,595,834 R125G probably damaging Het
Tmem62 T G 2: 121,006,964 probably null Het
Tnpo3 A T 6: 29,578,461 probably null Het
Trpc6 A T 9: 8,680,438 D889V probably damaging Het
Tubgcp6 C A 15: 89,104,008 V913L probably benign Het
Uox A T 3: 146,627,810 M255L probably benign Het
Other mutations in Sept2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01909:Sept2 APN 1 93499101 missense probably damaging 1.00
IGL02504:Sept2 APN 1 93500481 missense probably benign 0.06
R0136:Sept2 UTSW 1 93507050 missense possibly damaging 0.57
R0140:Sept2 UTSW 1 93501639 missense probably damaging 1.00
R0335:Sept2 UTSW 1 93495599 missense probably damaging 1.00
R0538:Sept2 UTSW 1 93501623 missense probably damaging 1.00
R1370:Sept2 UTSW 1 93499106 missense probably damaging 1.00
R1463:Sept2 UTSW 1 93499315 missense possibly damaging 0.79
R4832:Sept2 UTSW 1 93499127 missense probably damaging 0.98
R5443:Sept2 UTSW 1 93497452 missense possibly damaging 0.95
R5845:Sept2 UTSW 1 93499035 splice site probably null
R5898:Sept2 UTSW 1 93479301 missense probably benign
R6122:Sept2 UTSW 1 93497376 missense probably damaging 1.00
R6542:Sept2 UTSW 1 93497466 critical splice donor site probably null
R7784:Sept2 UTSW 1 93497444 missense probably damaging 1.00
R8074:Sept2 UTSW 1 93505561 missense probably benign
R8266:Sept2 UTSW 1 93501526 missense possibly damaging 0.91
R8277:Sept2 UTSW 1 93499308 missense probably benign 0.20
Posted On2012-04-20