Incidental Mutation 'IGL01909:Sept2'
ID179749
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: 0.820) question?
Stock #IGL01909
Quality Score
Status
Chromosome1
Chromosomal Location93478964-93510260 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93499101 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 144 (N144S)
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: N144S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: N144S

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 possibly damaging
Transcript: ENSMUST00000112912
AA Change: N144S

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276
AA Change: N144S

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 possibly damaging
Transcript: ENSMUST00000129211
AA Change: N144S

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276
AA Change: N144S

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 possibly damaging
Transcript: ENSMUST00000131175
AA Change: N144S

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276
AA Change: N144S

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
AA Change: N104S

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118621
Gene: ENSMUSG00000026276
AA Change: N104S

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 possibly damaging
Transcript: ENSMUST00000142401
AA Change: N174S

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121974
Gene: ENSMUSG00000026276
AA Change: N174S

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 possibly damaging
Transcript: ENSMUST00000150931
AA Change: N144S

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276
AA Change: N144S

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: N144S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: N144S

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 possibly damaging
Transcript: ENSMUST00000172165
AA Change: N104S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: N104S

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: N144S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: N144S

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700111E14Rik A T 6: 36,937,217 probably benign Het
Actn2 A T 13: 12,309,593 probably null Het
Apom C T 17: 35,131,232 A78T probably benign Het
Bambi A G 18: 3,508,229 Y7C possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cdc42bpb T C 12: 111,323,142 M418V probably benign Het
Clptm1 T C 7: 19,655,776 N43D probably benign Het
Cspp1 T C 1: 10,066,661 V241A probably benign Het
Ctnna3 T A 10: 63,504,131 I32N probably benign Het
Elp2 A G 18: 24,619,519 probably benign Het
Frmd4a A G 2: 4,604,033 D893G probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
H2-M10.1 C A 17: 36,325,079 G154* probably null Het
Igdcc3 C T 9: 65,144,537 R141W probably damaging Het
Igkv14-130 A G 6: 67,791,339 K60E possibly damaging Het
Kcnmb2 A G 3: 32,198,363 probably benign Het
Lrp4 T C 2: 91,494,184 L1288P possibly damaging Het
Mavs T A 2: 131,245,521 M313K probably benign Het
Mia2 A G 12: 59,107,945 E148G possibly damaging Het
Olfr26 T A 9: 38,855,717 Y218* probably null Het
Olfr813 A T 10: 129,857,081 T188S probably damaging Het
Olfr875 T A 9: 37,772,863 I68K possibly damaging Het
Plekha3 C T 2: 76,686,703 T133M probably damaging Het
Plxna1 A T 6: 89,332,084 probably null Het
Slc9a4 T C 1: 40,612,291 probably benign Het
Slco1b2 T A 6: 141,648,586 I59K probably damaging Het
Tnrc6b A G 15: 80,901,983 S1243G possibly damaging Het
Unc13a T A 8: 71,639,210 probably benign Het
Vmn2r105 T C 17: 20,224,656 R525G probably damaging Het
Vmn2r37 T A 7: 9,216,033 K451* probably null Het
Vmn2r71 C T 7: 85,620,793 T504I probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp668 A T 7: 127,866,822 C397S probably damaging Het
Other mutations in Sept2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Sept2 APN 1 93499142 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 unclassified 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
Posted On2014-05-07