Incidental Mutation 'IGL00157:Sept9'
ID 2017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sept9
Ensembl Gene ENSMUSG00000059248
Gene Name septin 9
Synonyms PNUTL4, Msf, Sint1, SL3-3 integration site 1, MSF1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL00157
Quality Score
Status
Chromosome 11
Chromosomal Location 117199661-117362325 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117352184 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 66 (T66A)
Ref Sequence ENSEMBL: ENSMUSP00000120382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019038] [ENSMUST00000093907] [ENSMUST00000100193] [ENSMUST00000106349] [ENSMUST00000106354] [ENSMUST00000127383] [ENSMUST00000153668]
AlphaFold Q80UG5
Predicted Effect probably damaging
Transcript: ENSMUST00000019038
AA Change: T308A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019038
Gene: ENSMUSG00000059248
AA Change: T308A

DomainStartEndE-ValueType
Pfam:DUF258 265 379 5.3e-8 PFAM
Pfam:Septin 286 565 1.2e-112 PFAM
Pfam:GTP_EFTU 289 365 1.5e-5 PFAM
Pfam:AIG1 290 379 3.1e-7 PFAM
Pfam:MMR_HSR1 291 481 1.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093907
AA Change: T315A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091435
Gene: ENSMUSG00000059248
AA Change: T315A

DomainStartEndE-ValueType
Pfam:Septin 293 572 1.6e-112 PFAM
Pfam:MMR_HSR1 298 444 3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100193
AA Change: T66A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097767
Gene: ENSMUSG00000059248
AA Change: T66A

DomainStartEndE-ValueType
Pfam:DUF258 23 138 1.1e-8 PFAM
Pfam:Septin 44 323 3.4e-113 PFAM
Pfam:GTP_EFTU 47 123 6.2e-6 PFAM
Pfam:AIG1 48 138 2.4e-7 PFAM
Pfam:MMR_HSR1 49 194 4.6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106349
AA Change: T66A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101956
Gene: ENSMUSG00000059248
AA Change: T66A

DomainStartEndE-ValueType
Pfam:DUF258 23 138 1.1e-8 PFAM
Pfam:Septin 44 323 3.4e-113 PFAM
Pfam:GTP_EFTU 47 123 6.2e-6 PFAM
Pfam:AIG1 48 138 2.4e-7 PFAM
Pfam:MMR_HSR1 49 194 4.6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106354
AA Change: T297A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101961
Gene: ENSMUSG00000059248
AA Change: T297A

DomainStartEndE-ValueType
Pfam:DUF258 254 368 4.2e-8 PFAM
Pfam:Septin 275 554 3.4e-113 PFAM
Pfam:GTP_EFTU 278 354 3.7e-6 PFAM
Pfam:AIG1 279 368 1.9e-7 PFAM
Pfam:MMR_HSR1 280 378 7.6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127383
AA Change: T85A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120065
Gene: ENSMUSG00000059248
AA Change: T85A

DomainStartEndE-ValueType
Pfam:DUF258 43 158 1.2e-8 PFAM
Pfam:Septin 63 242 6.2e-79 PFAM
Pfam:GTP_EFTU 66 142 9.2e-7 PFAM
Pfam:AIG1 67 161 4.2e-8 PFAM
Pfam:MMR_HSR1 68 222 8.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134852
Predicted Effect probably damaging
Transcript: ENSMUST00000153668
AA Change: T66A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120382
Gene: ENSMUSG00000059248
AA Change: T66A

DomainStartEndE-ValueType
Pfam:DUF258 16 74 1.2e-7 PFAM
Pfam:Septin 44 74 4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155331
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality around E10 with generalized apoptotic degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 44,253,451 V331A possibly damaging Het
Casr C A 16: 36,495,810 V633F probably damaging Het
Cblb T G 16: 52,183,307 V716G probably benign Het
Cbln2 C T 18: 86,716,384 Q156* probably null Het
Cnn1 G T 9: 22,099,397 L14F possibly damaging Het
D830013O20Rik T C 12: 73,364,247 noncoding transcript Het
Drd1 A G 13: 54,053,878 S99P probably damaging Het
Fam35a A G 14: 34,268,625 V108A probably benign Het
Fat1 T C 8: 44,951,670 V486A possibly damaging Het
Galnt7 T C 8: 57,540,039 N416S probably damaging Het
Gm10735 T C 13: 113,041,484 probably benign Het
Gm8909 A T 17: 36,165,354 probably null Het
Jag2 T C 12: 112,912,718 T790A probably benign Het
Klhdc1 T A 12: 69,242,008 Y31N possibly damaging Het
Lama1 A T 17: 67,815,928 M2769L probably benign Het
Mms19 A G 19: 41,945,457 probably null Het
Msrb2 C A 2: 19,394,341 P172T probably damaging Het
Olfr228 T C 2: 86,483,218 S175G probably benign Het
Olfr955 A G 9: 39,470,243 V161A probably benign Het
Pcdhb9 T A 18: 37,403,279 D775E possibly damaging Het
Pkhd1 T C 1: 20,566,874 probably null Het
Preb A T 5: 30,955,964 D375E probably damaging Het
Prkdc T C 16: 15,697,226 I1010T probably damaging Het
Rbp2 A G 9: 98,498,897 probably null Het
Serpinb9b A T 13: 33,035,625 E178D probably benign Het
Tg A G 15: 66,847,166 Y258C probably damaging Het
Tmprss7 T C 16: 45,663,368 R548G probably benign Het
Uba7 G A 9: 107,979,111 A536T probably benign Het
Vmn2r114 G A 17: 23,291,665 P614S probably damaging Het
Xpc A G 6: 91,492,264 probably benign Het
Yrdc T C 4: 124,853,961 S86P probably damaging Het
Zbed6 G T 1: 133,657,376 A741D probably damaging Het
Other mutations in Sept9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Sept9 APN 11 117354804 unclassified probably benign
IGL01520:Sept9 APN 11 117352643 missense probably damaging 1.00
IGL01905:Sept9 APN 11 117218889 missense probably benign 0.07
IGL02502:Sept9 APN 11 117290662 missense probably damaging 1.00
R0325:Sept9 UTSW 11 117356632 missense probably damaging 0.99
R0825:Sept9 UTSW 11 117359460 missense probably damaging 1.00
R0845:Sept9 UTSW 11 117356325 unclassified probably benign
R1581:Sept9 UTSW 11 117290595 missense probably damaging 1.00
R1763:Sept9 UTSW 11 117290428 missense probably benign 0.04
R1848:Sept9 UTSW 11 117353083 unclassified probably benign
R2039:Sept9 UTSW 11 117351617 missense probably damaging 1.00
R2409:Sept9 UTSW 11 117360461 missense probably damaging 1.00
R2763:Sept9 UTSW 11 117326501 missense probably benign 0.05
R3545:Sept9 UTSW 11 117352673 missense probably damaging 1.00
R4062:Sept9 UTSW 11 117352265 missense probably damaging 1.00
R4601:Sept9 UTSW 11 117360484 missense probably damaging 1.00
R5139:Sept9 UTSW 11 117356685 missense possibly damaging 0.80
R5759:Sept9 UTSW 11 117352268 missense probably benign 0.15
R6062:Sept9 UTSW 11 117290800 missense possibly damaging 0.89
R6134:Sept9 UTSW 11 117352161 missense probably damaging 1.00
R6509:Sept9 UTSW 11 117290427 missense probably benign
R7562:Sept9 UTSW 11 117326511 critical splice donor site probably null
R7573:Sept9 UTSW 11 117199745 start gained probably benign
R7592:Sept9 UTSW 11 117290662 missense probably damaging 1.00
R7810:Sept9 UTSW 11 117359438 nonsense probably null
R8200:Sept9 UTSW 11 117232716 missense probably benign 0.01
R9118:Sept9 UTSW 11 117266572 missense probably benign
R9131:Sept9 UTSW 11 117290634 missense probably damaging 1.00
R9220:Sept9 UTSW 11 117351570 missense probably benign 0.05
R9241:Sept9 UTSW 11 117218898 missense probably benign 0.00
Posted On 2011-07-12