Incidental Mutation 'R5891:Septin4'
ID 457203
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 044092-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.796) question?
Stock # R5891 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 87457515-87481365 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 87479750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018544] [ENSMUST00000063156] [ENSMUST00000092802] [ENSMUST00000103179] [ENSMUST00000107960] [ENSMUST00000107961] [ENSMUST00000107962] [ENSMUST00000122945] [ENSMUST00000119628] [ENSMUST00000122067] [ENSMUST00000133202] [ENSMUST00000123105] [ENSMUST00000146871]
AlphaFold P28661
Q5ND19
Predicted Effect probably benign
Transcript: ENSMUST00000018544
SMART Domains Protein: ENSMUSP00000018544
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
low complexity region 94 108 N/A INTRINSIC
Pfam:Septin 141 421 1.8e-130 PFAM
Pfam:MMR_HSR1 146 290 1.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063156
SMART Domains Protein: ENSMUSP00000060127
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
Pfam:DUF258 26 142 7.5e-7 PFAM
Pfam:Septin 42 322 7.5e-131 PFAM
Pfam:MMR_HSR1 47 211 5.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092802
SMART Domains Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401

DomainStartEndE-ValueType
Pfam:Myotub-related 126 507 4.2e-137 PFAM
low complexity region 933 945 N/A INTRINSIC
coiled coil region 961 991 N/A INTRINSIC
FYVE 1044 1113 2.08e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103179
SMART Domains Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401

DomainStartEndE-ValueType
Pfam:Myotub-related 126 521 8.1e-149 PFAM
low complexity region 990 1002 N/A INTRINSIC
coiled coil region 1018 1048 N/A INTRINSIC
FYVE 1101 1170 2.08e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107960
SMART Domains Protein: ENSMUSP00000103594
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
low complexity region 94 108 N/A INTRINSIC
Pfam:Septin 141 421 1.1e-130 PFAM
Pfam:MMR_HSR1 146 293 7.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107961
SMART Domains Protein: ENSMUSP00000103595
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
Pfam:DUF258 19 135 1e-7 PFAM
Pfam:Septin 35 232 1.9e-89 PFAM
Pfam:MMR_HSR1 40 204 1.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107962
SMART Domains Protein: ENSMUSP00000103596
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
low complexity region 75 89 N/A INTRINSIC
Pfam:Septin 122 402 1.3e-130 PFAM
Pfam:MMR_HSR1 127 273 8.3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134923
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
Predicted Effect probably benign
Transcript: ENSMUST00000119628
SMART Domains Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401

DomainStartEndE-ValueType
Pfam:Myotub-related 127 519 1.5e-135 PFAM
low complexity region 990 1002 N/A INTRINSIC
coiled coil region 1018 1048 N/A INTRINSIC
FYVE 1101 1170 2.08e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122067
SMART Domains Protein: ENSMUSP00000112960
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
Pfam:DUF258 8 124 5.3e-7 PFAM
Pfam:Septin 23 303 3.9e-131 PFAM
Pfam:MMR_HSR1 28 172 4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133202
SMART Domains Protein: ENSMUSP00000115790
Gene: ENSMUSG00000020486

DomainStartEndE-ValueType
low complexity region 84 98 N/A INTRINSIC
Pfam:DUF258 114 232 1.4e-7 PFAM
Pfam:Septin 131 280 1.2e-72 PFAM
Pfam:MMR_HSR1 136 279 2.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148216
Predicted Effect probably benign
Transcript: ENSMUST00000146871
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 96% (85/89)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A T 16: 56,426,496 (GRCm39) T504S probably damaging Het
Adamtsl4 C A 3: 95,589,623 (GRCm39) R387L possibly damaging Het
Adgb G A 10: 10,253,591 (GRCm39) Q1224* probably null Het
Ankrd40 T A 11: 94,225,689 (GRCm39) F240Y probably damaging Het
Asnsd1 A T 1: 53,387,136 (GRCm39) Y164N probably benign Het
Atf7ip A T 6: 136,536,975 (GRCm39) E69D possibly damaging Het
Atm T C 9: 53,408,459 (GRCm39) T1129A probably benign Het
Atosa C G 9: 74,911,668 (GRCm39) C46W probably damaging Het
AU021092 T C 16: 5,029,995 (GRCm39) D340G probably benign Het
Baz2a T A 10: 127,957,191 (GRCm39) I978N probably damaging Het
BC034090 T C 1: 155,108,793 (GRCm39) probably benign Het
Bcl9 A G 3: 97,116,204 (GRCm39) L830P probably damaging Het
Bicral T C 17: 47,112,155 (GRCm39) N1015S probably benign Het
Ccdc9b T A 2: 118,591,864 (GRCm39) D92V probably damaging Het
Ceacam3 C A 7: 16,885,718 (GRCm39) T107N probably damaging Het
Cep83 T C 10: 94,561,537 (GRCm39) V109A probably benign Het
Ces1e A G 8: 93,929,894 (GRCm39) V463A possibly damaging Het
Ciao1 A G 2: 127,089,054 (GRCm39) V55A probably benign Het
Col19a1 T C 1: 24,328,806 (GRCm39) E900G probably damaging Het
Commd3 A G 2: 18,678,626 (GRCm39) probably benign Het
Coro1c A G 5: 113,988,872 (GRCm39) I157T probably damaging Het
Cplane1 A G 15: 8,218,073 (GRCm39) I828V probably benign Het
Ctso T A 3: 81,861,561 (GRCm39) F311L probably benign Het
Cxcl10 A G 5: 92,496,083 (GRCm39) probably benign Het
Daam1 C A 12: 71,990,923 (GRCm39) T179N unknown Het
Ddx24 T C 12: 103,390,317 (GRCm39) K225E probably damaging Het
Dnajc16 T C 4: 141,502,703 (GRCm39) T278A probably benign Het
Dnajc2 A T 5: 21,966,709 (GRCm39) N345K possibly damaging Het
Dnpep G T 1: 75,288,456 (GRCm39) Q395K probably benign Het
Dync1h1 T C 12: 110,580,654 (GRCm39) probably null Het
Exoc1 A G 5: 76,689,991 (GRCm39) D177G probably damaging Het
Fam135b C T 15: 71,397,652 (GRCm39) R136H probably damaging Het
Filip1 T G 9: 79,727,142 (GRCm39) L492F possibly damaging Het
Flvcr2 A T 12: 85,843,002 (GRCm39) I359F possibly damaging Het
Gmcl1 A G 6: 86,684,425 (GRCm39) W366R probably damaging Het
Htt A G 5: 35,028,167 (GRCm39) T1808A possibly damaging Het
Ighv5-4 C A 12: 113,561,249 (GRCm39) R57L probably damaging Het
Il12rb2 A T 6: 67,337,674 (GRCm39) I69N probably damaging Het
Irf5 A T 6: 29,529,424 (GRCm39) probably benign Het
Kif13b T G 14: 65,025,854 (GRCm39) probably null Het
Klkb1 T A 8: 45,723,703 (GRCm39) T571S probably benign Het
Mapkbp1 G T 2: 119,854,413 (GRCm39) E1337* probably null Het
Met A G 6: 17,491,538 (GRCm39) D100G probably benign Het
Mgam T A 6: 40,721,282 (GRCm39) D183E probably benign Het
Mrgprb13 T C 7: 47,962,007 (GRCm39) noncoding transcript Het
Mrgprx2 T C 7: 48,131,994 (GRCm39) T275A probably benign Het
Mroh2a C A 1: 88,169,337 (GRCm39) Q671K possibly damaging Het
Nckipsd T A 9: 108,685,808 (GRCm39) S42R probably damaging Het
Nlrp12 T A 7: 3,267,933 (GRCm39) probably benign Het
Or12j2 C T 7: 139,916,513 (GRCm39) T246I probably benign Het
Or12k8 T A 2: 36,974,990 (GRCm39) M257L probably benign Het
Or4k47 A T 2: 111,451,778 (GRCm39) L214M probably damaging Het
Or5p5 C T 7: 107,414,387 (GRCm39) P199S probably damaging Het
Otoa T A 7: 120,731,583 (GRCm39) probably null Het
Pfkm T A 15: 98,020,571 (GRCm39) C233* probably null Het
Pikfyve A G 1: 65,241,896 (GRCm39) Y212C probably damaging Het
Ptprq T A 10: 107,412,756 (GRCm39) D1781V possibly damaging Het
Pttg1ip A G 10: 77,418,274 (GRCm39) probably benign Het
Rab6a T A 7: 100,288,454 (GRCm39) probably null Het
Rbm11 C T 16: 75,395,725 (GRCm39) A132V possibly damaging Het
Serpinb8 A G 1: 107,533,575 (GRCm39) E210G probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Slco5a1 A G 1: 13,060,626 (GRCm39) F32L probably benign Het
Smad2 A G 18: 76,433,046 (GRCm39) E326G probably damaging Het
Sp9 T A 2: 73,104,595 (GRCm39) L383Q probably damaging Het
Stx11 T C 10: 12,817,559 (GRCm39) N55S probably damaging Het
Tbc1d15 T A 10: 115,056,213 (GRCm39) Q253L probably benign Het
Tcf7l1 T A 6: 72,614,034 (GRCm39) probably benign Het
Tdrd9 T A 12: 112,009,153 (GRCm39) S1020T probably damaging Het
Tead3 A T 17: 28,560,339 (GRCm39) D88E probably damaging Het
Tnrc18 A G 5: 142,800,926 (GRCm39) S11P probably damaging Homo
Trpc3 G T 3: 36,725,171 (GRCm39) D268E probably damaging Het
Ttn A G 2: 76,576,085 (GRCm39) V23190A possibly damaging Het
Ubr4 T A 4: 139,135,937 (GRCm39) Y908* probably null Het
Urb2 G T 8: 124,757,595 (GRCm39) V1101L possibly damaging Het
Usp9y A T Y: 1,341,535 (GRCm39) D1375E probably benign Het
Zcchc7 T C 4: 44,895,838 (GRCm39) L262P probably damaging Het
Zdhhc7 T A 8: 120,811,639 (GRCm39) H188L probably benign Het
Zfp518a T A 19: 40,900,877 (GRCm39) C269S probably damaging Het
Zfp933 T C 4: 147,911,231 (GRCm39) K90E probably benign 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
R1479:Septin4 UTSW 11 87,458,244 (GRCm39) missense probably damaging 1.00
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
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'- AGCAGTACTTCCGAGACGAG -3'
(R):5'- AGATGAGGGGTCCACAGTTC -3'

Sequencing Primer
(F):5'- ACGAGAGTGGCCTGAACC -3'
(R):5'- GGTCCACAGTTCTGGGTAC -3'
Posted On 2017-02-15