Incidental Mutation 'R0325:Septin9'
ID 25768
Institutional Source Beutler Lab
Gene Symbol Septin9
Ensembl Gene ENSMUSG00000059248
Gene Name septin 9
Synonyms Msf, Sept9, MSF1, PNUTL4, SL3-3 integration site 1, Sint1
MMRRC Submission 038535-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0325 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 117090487-117253151 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 117247458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 479 (V479G)
Ref Sequence ENSEMBL: ENSMUSP00000101961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019038] [ENSMUST00000093907] [ENSMUST00000100193] [ENSMUST00000106349] [ENSMUST00000106354] [ENSMUST00000127383] [ENSMUST00000153668]
AlphaFold Q80UG5
Predicted Effect possibly damaging
Transcript: ENSMUST00000019038
AA Change: V490G

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000019038
Gene: ENSMUSG00000059248
AA Change: V490G

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: V497G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091435
Gene: ENSMUSG00000059248
AA Change: V497G

DomainStartEndE-ValueType
Pfam:Septin 293 572 1.6e-112 PFAM
Pfam:MMR_HSR1 298 444 3e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100193
AA Change: V248G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097767
Gene: ENSMUSG00000059248
AA Change: V248G

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 possibly damaging
Transcript: ENSMUST00000106349
AA Change: V248G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101956
Gene: ENSMUSG00000059248
AA Change: V248G

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: V479G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101961
Gene: ENSMUSG00000059248
AA Change: V479G

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 benign
Transcript: ENSMUST00000127383
SMART Domains Protein: ENSMUSP00000120065
Gene: ENSMUSG00000059248

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 noncoding transcript
Transcript: ENSMUST00000155331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129387
Predicted Effect probably benign
Transcript: ENSMUST00000153668
SMART Domains Protein: ENSMUSP00000120382
Gene: ENSMUSG00000059248

DomainStartEndE-ValueType
Pfam:DUF258 16 74 1.2e-7 PFAM
Pfam:Septin 44 74 4e-12 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.0%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T C 4: 144,282,081 (GRCm39) Y237C probably damaging Het
Adcyap1 A G 17: 93,510,260 (GRCm39) D96G probably benign Het
Adgrv1 C T 13: 81,688,134 (GRCm39) V1749M probably damaging Het
Adnp2 A T 18: 80,173,868 (GRCm39) N180K probably benign Het
Ahdc1 G T 4: 132,790,030 (GRCm39) A424S unknown Het
Alpk3 G A 7: 80,717,701 (GRCm39) R86H possibly damaging Het
Atf7ip A C 6: 136,537,987 (GRCm39) T49P possibly damaging Het
Atp7b G A 8: 22,518,467 (GRCm39) L124F probably benign Het
Bub1 A T 2: 127,643,314 (GRCm39) L1010* probably null Het
Cd300c C A 11: 114,850,411 (GRCm39) E131* probably null Het
Cep135 A G 5: 76,763,590 (GRCm39) K527E probably damaging Het
Cfd G T 10: 79,727,592 (GRCm39) E89* probably null Het
Crb1 A C 1: 139,168,904 (GRCm39) C871W probably damaging Het
D6Ertd527e A T 6: 87,088,277 (GRCm39) S147C unknown Het
Ddx60 A T 8: 62,436,889 (GRCm39) E946D probably benign Het
Dmrt1 G A 19: 25,523,371 (GRCm39) E241K probably benign Het
Dnah11 C G 12: 117,976,074 (GRCm39) V2782L probably benign Het
Dzip1 T C 14: 119,146,969 (GRCm39) I313M probably damaging Het
Egln3 T C 12: 54,250,298 (GRCm39) E17G probably benign Het
Eif3d A G 15: 77,852,420 (GRCm39) V42A probably damaging Het
Elapor1 A G 3: 108,368,567 (GRCm39) L808P probably damaging Het
Eogt C A 6: 97,090,916 (GRCm39) G408W probably damaging Het
Fip1l1 T A 5: 74,756,503 (GRCm39) N498K probably damaging Het
Fmn2 T A 1: 174,437,520 (GRCm39) probably null Het
Fndc3b T C 3: 27,521,579 (GRCm39) E532G probably damaging Het
Gabrb3 T C 7: 57,415,278 (GRCm39) L116P probably damaging Het
Galnt6 A T 15: 100,591,352 (GRCm39) probably null Het
Glmp G A 3: 88,232,391 (GRCm39) M1I probably null Het
Gm5478 T C 15: 101,552,761 (GRCm39) D79G probably damaging Het
Gnb1 T G 4: 155,636,140 (GRCm39) D153E probably benign Het
Grik2 T C 10: 49,116,821 (GRCm39) I86V probably damaging Het
Hdac3 C T 18: 38,074,005 (GRCm39) probably null Het
Hdgfl2 G A 17: 56,406,181 (GRCm39) R523H possibly damaging Het
Ifngr1 T A 10: 19,473,180 (GRCm39) N43K probably damaging Het
Iqgap1 A G 7: 80,401,678 (GRCm39) W476R probably benign Het
Jag1 A G 2: 136,937,365 (GRCm39) probably null Het
Kars1 T C 8: 112,734,848 (GRCm39) D46G probably benign Het
Kcnd2 A G 6: 21,216,682 (GRCm39) I129V probably damaging Het
Lama3 A C 18: 12,615,183 (GRCm39) D1369A probably damaging Het
Lars1 A T 18: 42,383,967 (GRCm39) V76E possibly damaging Het
Lgals9 T C 11: 78,854,274 (GRCm39) I337V probably damaging Het
Lrp1b T C 2: 40,741,723 (GRCm39) D3068G probably damaging Het
Med12l A G 3: 58,984,480 (GRCm39) T462A possibly damaging Het
Megf9 T A 4: 70,374,178 (GRCm39) D286V probably damaging Het
Meox1 T A 11: 101,770,227 (GRCm39) S167C probably damaging Het
Mier2 C T 10: 79,378,430 (GRCm39) probably null Het
Mrps2 C A 2: 28,359,791 (GRCm39) T216K probably damaging Het
Mto1 A T 9: 78,360,286 (GRCm39) D258V probably damaging Het
Mug1 A T 6: 121,826,801 (GRCm39) H208L probably benign Het
Myo15b T A 11: 115,775,091 (GRCm39) I751N probably damaging Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ndrg4 T A 8: 96,437,563 (GRCm39) M17K probably damaging Het
Nfrkb T G 9: 31,325,476 (GRCm39) M973R probably benign Het
Nxph4 C T 10: 127,362,780 (GRCm39) R37H probably damaging Het
Oas1e A G 5: 120,933,460 (GRCm39) I35T probably damaging Het
Oc90 C T 15: 65,769,514 (GRCm39) probably null Het
Or4b12 A T 2: 90,095,880 (GRCm39) M298K probably null Het
Or52d3 A T 7: 104,229,567 (GRCm39) D238V probably damaging Het
Or8j3 G A 2: 86,029,055 (GRCm39) L14F possibly damaging Het
Or8k30 A T 2: 86,339,549 (GRCm39) T249S probably benign Het
Or9a7 A T 6: 40,521,057 (GRCm39) N285K possibly damaging Het
Papola T A 12: 105,773,452 (GRCm39) I157N probably damaging Het
Pcyox1l G C 18: 61,830,964 (GRCm39) P303A possibly damaging Het
Pkdrej T C 15: 85,703,752 (GRCm39) N728S probably benign Het
Pkp4 A G 2: 59,148,873 (GRCm39) D542G probably damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Poln C T 5: 34,307,108 (GRCm39) R31H probably benign Het
Ppp3ca G A 3: 136,640,900 (GRCm39) A484T probably benign Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Pramel28 A T 4: 143,693,310 (GRCm39) V56E probably damaging Het
Prex2 G A 1: 11,270,281 (GRCm39) probably null Het
Prrc2b G T 2: 32,089,103 (GRCm39) W403L probably damaging Het
Pter A T 2: 13,005,748 (GRCm39) K307M probably damaging Het
Ptpn5 G A 7: 46,740,506 (GRCm39) S99L probably benign Het
Ptpn5 A C 7: 46,740,507 (GRCm39) S99A probably benign Het
Rpap1 A C 2: 119,602,321 (GRCm39) H674Q probably benign Het
Rph3a A T 5: 121,081,127 (GRCm39) D623E probably benign Het
Sdr9c7 G T 10: 127,734,588 (GRCm39) E25D probably benign Het
Sgo2a A G 1: 58,055,856 (GRCm39) D680G probably benign Het
Sgo2b A T 8: 64,381,410 (GRCm39) I474N probably benign Het
Sgsm1 A T 5: 113,436,701 (GRCm39) I43N probably damaging Het
Shprh G A 10: 11,045,853 (GRCm39) M891I probably benign Het
Skic2 A T 17: 35,063,791 (GRCm39) Y551N possibly damaging Het
Slc12a9 A G 5: 137,321,108 (GRCm39) M469T probably damaging Het
Slc4a2 A T 5: 24,640,941 (GRCm39) I747F probably damaging Het
Slc7a6 T A 8: 106,921,149 (GRCm39) N373K probably damaging Het
Slc7a6os T C 8: 106,927,688 (GRCm39) D296G probably benign Het
Sncaip A G 18: 53,038,881 (GRCm39) T120A probably damaging Het
Sorcs1 G C 19: 50,301,480 (GRCm39) probably null Het
Spata16 A G 3: 26,721,605 (GRCm39) E42G probably damaging Het
Spata31e2 G T 1: 26,724,347 (GRCm39) Q278K possibly damaging Het
Syne2 A T 12: 76,009,415 (GRCm39) M2440L probably benign Het
Taf7l2 T C 10: 115,949,474 (GRCm39) I17M probably damaging Het
Tead2 A G 7: 44,875,179 (GRCm39) E232G probably damaging Het
Tmf1 T G 6: 97,153,465 (GRCm39) T203P possibly damaging Het
Trrap C A 5: 144,753,205 (GRCm39) H1843Q probably benign Het
Unc79 C A 12: 103,137,903 (GRCm39) Q2314K probably damaging Het
Unc80 G T 1: 66,550,040 (GRCm39) G766V probably damaging Het
Vmn1r217 A G 13: 23,298,764 (GRCm39) L46P probably damaging Het
Vmn2r80 A T 10: 78,984,773 (GRCm39) I42F possibly damaging Het
Vwa5a T C 9: 38,639,961 (GRCm39) V403A probably damaging Het
Zfp42 T C 8: 43,748,988 (GRCm39) E171G probably damaging Het
Zfp64 A T 2: 168,767,960 (GRCm39) S551T probably benign Het
Other mutations in Septin9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Septin9 APN 11 117,243,010 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ATTGACGTGTACCCGCAGAAGGAG -3'
(R):5'- CAGCCAGTGTCCTTACAAGAGACAG -3'

Sequencing Primer
(F):5'- GTCAGTGGGTCAATCTGCCTC -3'
(R):5'- GTCCTTACAAGAGACAGGGACC -3'
Posted On 2013-04-16