Incidental Mutation 'R7064:Septin4'
ID 548464
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 045160-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.796) question?
Stock # R7064 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 87457515-87481365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87481193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 378 (T378A)
Ref Sequence ENSEMBL: ENSMUSP00000060127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018544] [ENSMUST00000063156] [ENSMUST00000092802] [ENSMUST00000103179] [ENSMUST00000107960] [ENSMUST00000107961] [ENSMUST00000107962] [ENSMUST00000122067] [ENSMUST00000119628] [ENSMUST00000133202] [ENSMUST00000146871] [ENSMUST00000123105]
AlphaFold P28661
Q5ND19
Predicted Effect probably benign
Transcript: ENSMUST00000018544
AA Change: T477A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000018544
Gene: ENSMUSG00000020486
AA Change: T477A

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
AA Change: T378A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000060127
Gene: ENSMUSG00000020486
AA Change: T378A

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
AA Change: T458A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000103596
Gene: ENSMUSG00000020486
AA Change: T458A

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: ENSMUST00000136229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123081
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: 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: 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: ENSMUST00000146871
Predicted Effect probably benign
Transcript: ENSMUST00000123105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148216
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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 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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T C 8: 60,984,746 (GRCm39) I263T probably damaging Het
Adamtsl1 C T 4: 86,260,278 (GRCm39) P830S possibly damaging Het
Adrb1 T C 19: 56,711,456 (GRCm39) F218S probably damaging Het
Ahnak2 T C 12: 112,746,919 (GRCm39) probably benign Het
Arsj T A 3: 126,231,986 (GRCm39) V244E probably damaging Het
Atm T C 9: 53,419,181 (GRCm39) E757G probably benign Het
AU040320 A G 4: 126,685,865 (GRCm39) D147G probably benign Het
Btnl10 A T 11: 58,810,134 (GRCm39) M92L possibly damaging Het
Chd6 T C 2: 160,791,983 (GRCm39) D2458G probably damaging Het
Cntn3 T C 6: 102,250,772 (GRCm39) I259V probably damaging Het
Ctns A G 11: 73,077,218 (GRCm39) V250A probably benign Het
Cxxc1 T A 18: 74,353,678 (GRCm39) probably null Het
Cyp2a4 A T 7: 26,011,732 (GRCm39) M318L probably benign Het
Dchs1 A G 7: 105,412,392 (GRCm39) L1302P probably damaging Het
Decr1 C A 4: 15,945,392 (GRCm39) Het
Dmbx1 T C 4: 115,775,465 (GRCm39) N272D probably damaging Het
Dsel C A 1: 111,790,577 (GRCm39) probably benign Het
Dspp A C 5: 104,324,804 (GRCm39) D389A possibly damaging Het
Ero1a T C 14: 45,544,049 (GRCm39) T52A probably damaging Het
Fam186a T C 15: 99,839,557 (GRCm39) E2229G unknown Het
Gabrd C T 4: 155,472,803 (GRCm39) V127M probably damaging Het
Gpc2 A T 5: 138,277,172 (GRCm39) F85Y probably damaging Het
Gucy2g A G 19: 55,198,764 (GRCm39) L793S probably benign Het
Irag1 C G 7: 110,495,061 (GRCm39) E455Q probably damaging Het
Itpr3 G C 17: 27,308,269 (GRCm39) G298R probably damaging Het
Kalrn A T 16: 34,038,261 (GRCm39) C1024S probably damaging Het
Krt40 T C 11: 99,430,954 (GRCm39) Y185C probably benign Het
Lmo7 G A 14: 102,121,615 (GRCm39) D227N probably damaging Het
Mmrn1 T A 6: 60,965,524 (GRCm39) L1184* probably null Het
Or10s1 T A 9: 39,986,109 (GRCm39) Y173N probably damaging Het
Or14j2 T A 17: 37,885,634 (GRCm39) R227W probably damaging Het
Or4c15 T A 2: 88,759,853 (GRCm39) M269L probably benign Het
Parp9 T G 16: 35,774,042 (GRCm39) V338G probably benign Het
Pcdh15 G A 10: 74,466,446 (GRCm39) E888K possibly damaging Het
Pcdh9 C T 14: 94,123,585 (GRCm39) E862K probably damaging Het
Prkdc A G 16: 15,608,317 (GRCm39) T3040A probably benign Het
Qser1 T C 2: 104,617,464 (GRCm39) E1026G probably damaging Het
Rnf20 C T 4: 49,644,580 (GRCm39) R282* probably null Het
Rpgrip1l T A 8: 91,990,148 (GRCm39) K765* probably null Het
Rprd2 G A 3: 95,672,328 (GRCm39) T1025M probably damaging Het
Scn4a A G 11: 106,212,983 (GRCm39) Y1341H possibly damaging Het
Scn5a C G 9: 119,318,977 (GRCm39) D1554H probably damaging Het
Septin14 T C 5: 129,774,870 (GRCm39) I102V probably benign Het
Siglec1 C T 2: 130,925,834 (GRCm39) G291R probably benign Het
Sik2 A G 9: 50,818,720 (GRCm39) V418A probably damaging Het
Slc9a5 A G 8: 106,076,078 (GRCm39) T24A possibly damaging Het
Spata31d1b T C 13: 59,863,955 (GRCm39) S368P probably benign Het
Stip1 T C 19: 7,012,925 (GRCm39) D53G probably benign Het
Stk36 T C 1: 74,649,979 (GRCm39) W245R probably damaging Het
Stk39 A T 2: 68,189,156 (GRCm39) probably null Het
Tacr2 T C 10: 62,097,276 (GRCm39) M252T probably damaging Het
Tasor C T 14: 27,194,288 (GRCm39) P1163S probably benign Het
Terb1 A T 8: 105,215,186 (GRCm39) N263K probably benign Het
Tgm5 T C 2: 120,883,995 (GRCm39) M333V probably benign Het
Tmem45a T C 16: 56,642,767 (GRCm39) M135V probably benign Het
Trmt13 T A 3: 116,376,346 (GRCm39) K348N probably damaging Het
Trmt2a A T 16: 18,070,868 (GRCm39) M534L probably damaging Het
Ttll13 G A 7: 79,906,778 (GRCm39) R513K probably null Het
Vmn1r228 T A 17: 20,997,285 (GRCm39) I78L probably benign Het
Washc3 T C 10: 88,081,635 (GRCm39) V173A possibly damaging Het
Zc2hc1b A T 10: 13,047,049 (GRCm39) C21S probably damaging Het
Zfp944 T A 17: 22,558,560 (GRCm39) H229L probably damaging Het
Zfp985 T A 4: 147,667,573 (GRCm39) I147N 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
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
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'- TTGGCTTGGGAATAGAAGGACC -3'
(R):5'- GACACCTGAAGCCACATATAGG -3'

Sequencing Primer
(F):5'- CTGCCATTTCCATCATACATAAGGG -3'
(R):5'- AGGTTAGTTTATTTCCTCTGAGTCTC -3'
Posted On 2019-05-13