Incidental Mutation 'R1479:Septin4'
ID 164217
Institutional Source Beutler Lab
Gene Symbol Septin4
Ensembl Gene ENSMUSG00000020486
Gene Name septin 4
Synonyms Gm11492, ARTS, septin H5, cell division control-related protein 2b, Sept4, Bh5, Pnutl2
MMRRC Submission 039532-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.768) question?
Stock # R1479 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 87457515-87481365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87458244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 206 (R206L)
Ref Sequence ENSEMBL: ENSMUSP00000053087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060360] [ENSMUST00000122945]
AlphaFold P28661
Q5ND19
Predicted Effect probably damaging
Transcript: ENSMUST00000060360
AA Change: R206L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: R206L

DomainStartEndE-ValueType
Pfam:DUF4655 13 369 1.7e-99 PFAM
Pfam:DUF4655 366 509 2.7e-68 PFAM
low complexity region 511 536 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122945
SMART Domains Protein: ENSMUSP00000115682
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
low complexity region 87 101 N/A INTRINSIC
Pfam:DUF258 116 212 2.4e-7 PFAM
Pfam:Septin 134 213 9.1e-31 PFAM
Pfam:MMR_HSR1 139 213 5.5e-7 PFAM
Meta Mutation Damage Score 0.3023 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 96% (81/84)
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 of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null males are sterile and have immotile and structurally defective sperm that is bent and lacks the annulus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik T A 9: 50,652,601 (GRCm39) T58S possibly damaging Het
Alox12e A G 11: 70,211,608 (GRCm39) V252A probably benign Het
Anks6 T C 4: 47,044,874 (GRCm39) D344G probably damaging Het
Atg14 A T 14: 47,784,696 (GRCm39) probably null Het
Bcr G T 10: 74,896,957 (GRCm39) E34* probably null Het
Birc6 C T 17: 74,941,848 (GRCm39) T2728M probably damaging Het
Bmp2k T A 5: 97,201,059 (GRCm39) N326K probably benign Het
Brme1 C A 8: 84,889,026 (GRCm39) T123K possibly damaging Het
Ccdc188 A C 16: 18,037,154 (GRCm39) T242P possibly damaging Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cdin1 T A 2: 115,469,494 (GRCm39) N74K probably benign Het
Chsy3 A T 18: 59,541,985 (GRCm39) E374D probably benign Het
Clca4b A T 3: 144,621,229 (GRCm39) V615E probably damaging Het
Clcnka C A 4: 141,116,758 (GRCm39) A498S possibly damaging Het
Csmd3 A G 15: 47,721,282 (GRCm39) C1450R probably damaging Het
Cul7 C A 17: 46,962,673 (GRCm39) D101E probably damaging Het
Cyp27b1 G A 10: 126,887,580 (GRCm39) probably null Het
Cyp2d22 A G 15: 82,256,137 (GRCm39) S404P probably damaging Het
Dclk3 G A 9: 111,297,614 (GRCm39) S386N probably benign Het
Dnah10 G A 5: 124,854,953 (GRCm39) D1953N possibly damaging Het
Dst T A 1: 34,303,596 (GRCm39) probably null Het
Egfem1 A G 3: 29,711,314 (GRCm39) N241D probably damaging Het
Entpd7 T C 19: 43,710,279 (GRCm39) F312S probably damaging Het
Esp34 T A 17: 38,865,219 (GRCm39) probably benign Het
Foxd2 T A 4: 114,765,115 (GRCm39) T302S unknown Het
Fzd6 A T 15: 38,894,394 (GRCm39) N187Y probably damaging Het
Gbp9 C T 5: 105,241,930 (GRCm39) probably benign Het
Gna14 T C 19: 16,511,133 (GRCm39) S61P possibly damaging Het
Grap A T 11: 61,551,124 (GRCm39) Y52F probably benign Het
H2-T3 T C 17: 36,500,320 (GRCm39) Y125C probably damaging Het
Hax1 C A 3: 89,903,164 (GRCm39) E212D probably damaging Het
Hecw1 A C 13: 14,491,077 (GRCm39) S638R probably benign Het
Hira A T 16: 18,715,219 (GRCm39) K39M probably damaging Het
Hoxa2 T A 6: 52,140,320 (GRCm39) D222V probably damaging Het
Hycc2 T A 1: 58,591,427 (GRCm39) R91* probably null Het
Jph2 C T 2: 163,181,191 (GRCm39) V658M possibly damaging Het
Kansl1 A T 11: 104,233,242 (GRCm39) S762T probably damaging Het
Kat6b T A 14: 21,669,024 (GRCm39) C267S probably benign Het
Klk6 A G 7: 43,481,058 (GRCm39) N250S probably benign Het
Lbp T C 2: 158,161,634 (GRCm39) L232S probably damaging Het
Lcn9 A T 2: 25,713,715 (GRCm39) probably benign Het
Lcp2 A G 11: 34,025,068 (GRCm39) H213R probably benign Het
Lrrc9 A T 12: 72,507,599 (GRCm39) K367* probably null Het
Lyst A G 13: 13,809,067 (GRCm39) I246V probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mst1r T C 9: 107,790,544 (GRCm39) probably benign Het
Myo18a A G 11: 77,733,020 (GRCm39) E909G probably benign Het
Nipbl A T 15: 8,379,773 (GRCm39) D1006E probably benign Het
Or4k5 C A 14: 50,386,245 (GRCm39) V29F probably benign Het
Or5d37 A G 2: 87,923,630 (GRCm39) F217L probably benign Het
Or8d1b A T 9: 38,887,058 (GRCm39) I29F probably benign Het
Otog A G 7: 45,945,402 (GRCm39) I2220V possibly damaging Het
Pcx T A 19: 4,652,052 (GRCm39) I99N probably damaging Het
Pi4ka C T 16: 17,191,264 (GRCm39) G211D probably benign Het
Pp2d1 T C 17: 53,814,883 (GRCm39) S614G probably benign Het
Prdx6 G A 1: 161,071,833 (GRCm39) A111V probably damaging Het
Prorp T A 12: 55,426,172 (GRCm39) D138E probably damaging Het
Prss51 G A 14: 64,333,619 (GRCm39) probably null Het
Psmd6 C T 14: 14,116,819 (GRCm38) probably benign Het
Pten T A 19: 32,797,250 (GRCm39) L345Q probably damaging Het
Qrich2 T G 11: 116,332,311 (GRCm39) H2295P probably benign Het
Rgs11 T C 17: 26,427,257 (GRCm39) probably null Het
Rgs6 A G 12: 83,163,018 (GRCm39) E408G probably damaging Het
Slc38a7 T C 8: 96,575,122 (GRCm39) T53A probably benign Het
Spata31g1 A C 4: 42,972,543 (GRCm39) K625N possibly damaging Het
Sptbn1 A G 11: 30,063,909 (GRCm39) C1957R probably damaging Het
Sumf1 T C 6: 108,153,019 (GRCm39) Y123C probably damaging Het
Tnrc6b T A 15: 80,771,233 (GRCm39) probably null Het
Ttc21a C A 9: 119,786,013 (GRCm39) D670E probably benign Het
Ttn A G 2: 76,574,855 (GRCm39) V25346A probably damaging Het
Ubr4 A G 4: 139,153,151 (GRCm39) T2070A possibly damaging Het
Vmn2r57 C A 7: 41,077,254 (GRCm39) W304L possibly damaging Het
Vps13a T C 19: 16,727,478 (GRCm39) probably benign Het
Zfp647 A G 15: 76,795,403 (GRCm39) V419A possibly damaging Het
Other mutations in Septin4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Septin4 APN 11 87,480,599 (GRCm39) missense probably damaging 1.00
IGL00963:Septin4 APN 11 87,474,199 (GRCm39) missense possibly damaging 0.89
IGL01803:Septin4 APN 11 87,459,075 (GRCm39) missense probably benign 0.07
IGL01993:Septin4 APN 11 87,458,555 (GRCm39) missense possibly damaging 0.85
IGL02566:Septin4 APN 11 87,458,468 (GRCm39) missense probably benign 0.00
IGL03087:Septin4 APN 11 87,476,071 (GRCm39) splice site probably benign
IGL03213:Septin4 APN 11 87,458,184 (GRCm39) splice site probably null
IGL03268:Septin4 APN 11 87,480,529 (GRCm39) missense probably damaging 0.99
IGL03388:Septin4 APN 11 87,459,042 (GRCm39) nonsense probably null
R0050:Septin4 UTSW 11 87,458,172 (GRCm39) missense probably damaging 1.00
R0077:Septin4 UTSW 11 87,472,022 (GRCm39) missense probably benign
R1729:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R1730:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R1739:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R1762:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R1783:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R1784:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R1785:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R1851:Septin4 UTSW 11 87,459,741 (GRCm39) missense probably damaging 1.00
R1862:Septin4 UTSW 11 87,458,061 (GRCm39) missense possibly damaging 0.48
R1913:Septin4 UTSW 11 87,457,838 (GRCm39) missense probably benign
R1957:Septin4 UTSW 11 87,481,193 (GRCm39) missense probably benign 0.02
R2131:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R2133:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R2140:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R2141:Septin4 UTSW 11 87,474,262 (GRCm39) missense probably benign 0.26
R2252:Septin4 UTSW 11 87,480,637 (GRCm39) missense possibly damaging 0.75
R3149:Septin4 UTSW 11 87,458,070 (GRCm39) missense possibly damaging 0.46
R3176:Septin4 UTSW 11 87,458,070 (GRCm39) missense possibly damaging 0.46
R3276:Septin4 UTSW 11 87,458,070 (GRCm39) missense possibly damaging 0.46
R3696:Septin4 UTSW 11 87,476,060 (GRCm39) missense possibly damaging 0.48
R4018:Septin4 UTSW 11 87,475,947 (GRCm39) missense probably damaging 1.00
R4021:Septin4 UTSW 11 87,458,106 (GRCm39) missense probably damaging 1.00
R4117:Septin4 UTSW 11 87,459,108 (GRCm39) missense probably damaging 1.00
R4193:Septin4 UTSW 11 87,474,142 (GRCm39) critical splice acceptor site probably null
R4196:Septin4 UTSW 11 87,479,598 (GRCm39) missense probably damaging 0.96
R4332:Septin4 UTSW 11 87,458,730 (GRCm39) missense possibly damaging 0.95
R4515:Septin4 UTSW 11 87,458,883 (GRCm39) missense probably benign
R4663:Septin4 UTSW 11 87,458,429 (GRCm39) missense probably damaging 0.98
R4952:Septin4 UTSW 11 87,458,598 (GRCm39) missense probably benign 0.00
R5012:Septin4 UTSW 11 87,475,230 (GRCm39) missense possibly damaging 0.78
R5015:Septin4 UTSW 11 87,458,043 (GRCm39) missense possibly damaging 0.95
R5149:Septin4 UTSW 11 87,480,071 (GRCm39) missense probably damaging 1.00
R5176:Septin4 UTSW 11 87,458,358 (GRCm39) missense probably benign 0.02
R5711:Septin4 UTSW 11 87,458,723 (GRCm39) missense probably benign 0.07
R5891:Septin4 UTSW 11 87,479,750 (GRCm39) unclassified probably benign
R6090:Septin4 UTSW 11 87,480,343 (GRCm39) missense possibly damaging 0.48
R6145:Septin4 UTSW 11 87,476,072 (GRCm39) splice site probably null
R6257:Septin4 UTSW 11 87,481,175 (GRCm39) missense probably benign 0.07
R6305:Septin4 UTSW 11 87,458,145 (GRCm39) missense probably benign 0.00
R6704:Septin4 UTSW 11 87,479,856 (GRCm39) missense probably damaging 1.00
R7064:Septin4 UTSW 11 87,481,193 (GRCm39) missense probably benign 0.02
R7090:Septin4 UTSW 11 87,475,264 (GRCm39) missense probably damaging 1.00
R7784:Septin4 UTSW 11 87,469,834 (GRCm39) missense probably benign
R7790:Septin4 UTSW 11 87,480,065 (GRCm39) missense probably damaging 1.00
R8320:Septin4 UTSW 11 87,480,560 (GRCm39) missense possibly damaging 0.68
R9289:Septin4 UTSW 11 87,459,792 (GRCm39) nonsense probably null
R9613:Septin4 UTSW 11 87,469,823 (GRCm39) missense possibly damaging 0.53
T0970:Septin4 UTSW 11 87,458,558 (GRCm39) missense probably damaging 0.98
Z1177:Septin4 UTSW 11 87,458,748 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTCCAGTCAGGGAAGAGTCAACAC -3'
(R):5'- GGCTTGGTCCCAATACAGACAGAAC -3'

Sequencing Primer
(F):5'- GTCAACACGAAGAACTGAGAC -3'
(R):5'- GGTGCCCCATCTAAATCTCTAAGG -3'
Posted On 2014-03-28