Incidental Mutation 'IGL00157:Septin9'
ID 2017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Septin9
Ensembl Gene ENSMUSG00000059248
Gene Name septin 9
Synonyms Msf, Sept9, MSF1, PNUTL4, SL3-3 integration site 1, Sint1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00157
Quality Score
Status
Chromosome 11
Chromosomal Location 117090487-117253151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117243010 bp (GRCm39)
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134852
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: 43,902,875 (GRCm39) V331A possibly damaging Het
Casr C A 16: 36,316,172 (GRCm39) V633F probably damaging Het
Cblb T G 16: 52,003,670 (GRCm39) V716G probably benign Het
Cbln2 C T 18: 86,734,509 (GRCm39) Q156* probably null Het
Cnn1 G T 9: 22,010,693 (GRCm39) L14F possibly damaging Het
D830013O20Rik T C 12: 73,411,021 (GRCm39) noncoding transcript Het
Drd1 A G 13: 54,207,897 (GRCm39) S99P probably damaging Het
Fat1 T C 8: 45,404,707 (GRCm39) V486A possibly damaging Het
Galnt7 T C 8: 57,993,073 (GRCm39) N416S probably damaging Het
Gm10735 T C 13: 113,178,018 (GRCm39) probably benign Het
H2-T5 A T 17: 36,476,246 (GRCm39) probably null Het
Jag2 T C 12: 112,876,338 (GRCm39) T790A probably benign Het
Klhdc1 T A 12: 69,288,782 (GRCm39) Y31N possibly damaging Het
Lama1 A T 17: 68,122,923 (GRCm39) M2769L probably benign Het
Mms19 A G 19: 41,933,896 (GRCm39) probably null Het
Msrb2 C A 2: 19,399,152 (GRCm39) P172T probably damaging Het
Or8g35 A G 9: 39,381,539 (GRCm39) V161A probably benign Het
Or8k41 T C 2: 86,313,562 (GRCm39) S175G probably benign Het
Pcdhb9 T A 18: 37,536,332 (GRCm39) D775E possibly damaging Het
Pkhd1 T C 1: 20,637,098 (GRCm39) probably null Het
Preb A T 5: 31,113,308 (GRCm39) D375E probably damaging Het
Prkdc T C 16: 15,515,090 (GRCm39) I1010T probably damaging Het
Rbp2 A G 9: 98,380,950 (GRCm39) probably null Het
Serpinb9b A T 13: 33,219,608 (GRCm39) E178D probably benign Het
Shld2 A G 14: 33,990,582 (GRCm39) V108A probably benign Het
Tg A G 15: 66,719,015 (GRCm39) Y258C probably damaging Het
Tmprss7 T C 16: 45,483,731 (GRCm39) R548G probably benign Het
Uba7 G A 9: 107,856,310 (GRCm39) A536T probably benign Het
Vmn2r114 G A 17: 23,510,639 (GRCm39) P614S probably damaging Het
Xpc A G 6: 91,469,246 (GRCm39) probably benign Het
Yrdc T C 4: 124,747,754 (GRCm39) S86P probably damaging Het
Zbed6 G T 1: 133,585,114 (GRCm39) A741D probably damaging Het
Other mutations in Septin9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Septin9 APN 11 117,245,630 (GRCm39) unclassified probably benign
IGL01520:Septin9 APN 11 117,243,469 (GRCm39) missense probably damaging 1.00
IGL01905:Septin9 APN 11 117,109,715 (GRCm39) missense probably benign 0.07
IGL02502:Septin9 APN 11 117,181,488 (GRCm39) missense probably damaging 1.00
R0325:Septin9 UTSW 11 117,247,458 (GRCm39) missense probably damaging 0.99
R0825:Septin9 UTSW 11 117,250,286 (GRCm39) missense probably damaging 1.00
R0845:Septin9 UTSW 11 117,247,151 (GRCm39) unclassified probably benign
R1581:Septin9 UTSW 11 117,181,421 (GRCm39) missense probably damaging 1.00
R1763:Septin9 UTSW 11 117,181,254 (GRCm39) missense probably benign 0.04
R1848:Septin9 UTSW 11 117,243,909 (GRCm39) unclassified probably benign
R2039:Septin9 UTSW 11 117,242,443 (GRCm39) missense probably damaging 1.00
R2409:Septin9 UTSW 11 117,251,287 (GRCm39) missense probably damaging 1.00
R2763:Septin9 UTSW 11 117,217,327 (GRCm39) missense probably benign 0.05
R3545:Septin9 UTSW 11 117,243,499 (GRCm39) missense probably damaging 1.00
R4062:Septin9 UTSW 11 117,243,091 (GRCm39) missense probably damaging 1.00
R4601:Septin9 UTSW 11 117,251,310 (GRCm39) missense probably damaging 1.00
R5139:Septin9 UTSW 11 117,247,511 (GRCm39) missense possibly damaging 0.80
R5759:Septin9 UTSW 11 117,243,094 (GRCm39) missense probably benign 0.15
R6062:Septin9 UTSW 11 117,181,626 (GRCm39) missense possibly damaging 0.89
R6134:Septin9 UTSW 11 117,242,987 (GRCm39) missense probably damaging 1.00
R6509:Septin9 UTSW 11 117,181,253 (GRCm39) missense probably benign
R7562:Septin9 UTSW 11 117,217,337 (GRCm39) critical splice donor site probably null
R7573:Septin9 UTSW 11 117,090,571 (GRCm39) start gained probably benign
R7592:Septin9 UTSW 11 117,181,488 (GRCm39) missense probably damaging 1.00
R7810:Septin9 UTSW 11 117,250,264 (GRCm39) nonsense probably null
R8200:Septin9 UTSW 11 117,123,542 (GRCm39) missense probably benign 0.01
R9118:Septin9 UTSW 11 117,157,398 (GRCm39) missense probably benign
R9131:Septin9 UTSW 11 117,181,460 (GRCm39) missense probably damaging 1.00
R9220:Septin9 UTSW 11 117,242,396 (GRCm39) missense probably benign 0.05
R9241:Septin9 UTSW 11 117,109,724 (GRCm39) missense probably benign 0.00
R9661:Septin9 UTSW 11 117,245,751 (GRCm39) missense possibly damaging 0.91
R9735:Septin9 UTSW 11 117,245,680 (GRCm39) missense probably damaging 0.99
Posted On 2011-07-12