Incidental Mutation 'IGL01404:Fis1'
ID 79737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fis1
Ensembl Gene ENSMUSG00000019054
Gene Name fission, mitochondrial 1
Synonyms Ttc11, 2010003O14Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01404
Quality Score
Status
Chromosome 5
Chromosomal Location 136982129-136995088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136994828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 90 (A90V)
Ref Sequence ENSEMBL: ENSMUSP00000106726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001790] [ENSMUST00000019198] [ENSMUST00000111093] [ENSMUST00000111094] [ENSMUST00000111097]
AlphaFold Q9CQ92
Predicted Effect probably benign
Transcript: ENSMUST00000001790
SMART Domains Protein: ENSMUSP00000001790
Gene: ENSMUSG00000001739

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 2 179 6.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019198
AA Change: A140V

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000019198
Gene: ENSMUSG00000019054
AA Change: A140V

DomainStartEndE-ValueType
Pfam:Fis1_TPR_N 33 65 2.3e-18 PFAM
Pfam:Fis1_TPR_C 71 123 2.1e-27 PFAM
low complexity region 124 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111093
SMART Domains Protein: ENSMUSP00000106722
Gene: ENSMUSG00000001739

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 2 179 6.5e-36 PFAM
Pfam:Claudin_2 12 181 2.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111094
AA Change: A133V

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106723
Gene: ENSMUSG00000019054
AA Change: A133V

DomainStartEndE-ValueType
Pfam:Fis1_TPR_N 25 59 3.1e-20 PFAM
Pfam:Fis1_TPR_C 64 116 6.1e-28 PFAM
low complexity region 117 140 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111097
AA Change: A90V

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106726
Gene: ENSMUSG00000019054
AA Change: A90V

DomainStartEndE-ValueType
Pfam:Fis1_TPR_C 21 73 1.4e-28 PFAM
low complexity region 74 97 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152658
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,211,152 (GRCm39) probably null Het
4921524L21Rik T C 18: 6,638,653 (GRCm39) S351P possibly damaging Het
Ablim3 A G 18: 62,004,754 (GRCm39) Y12H probably damaging Het
Adam2 C T 14: 66,314,659 (GRCm39) probably null Het
Adgre4 A T 17: 56,104,639 (GRCm39) N235I possibly damaging Het
Aldh3b1 A C 19: 3,971,205 (GRCm39) V153G probably benign Het
B430306N03Rik A G 17: 48,628,101 (GRCm39) Y177C probably damaging Het
Cast A T 13: 74,886,406 (GRCm39) Y249* probably null Het
Cfap43 T C 19: 47,784,105 (GRCm39) D476G probably benign Het
Cpa4 T C 6: 30,581,701 (GRCm39) I216T possibly damaging Het
Cpeb3 T C 19: 37,065,948 (GRCm39) D407G probably benign Het
Ctnnal1 T C 4: 56,829,590 (GRCm39) D413G probably damaging Het
Cyb5a A G 18: 84,895,985 (GRCm39) S84G probably benign Het
Dpy19l4 C A 4: 11,273,006 (GRCm39) probably null Het
Erbin A T 13: 103,975,972 (GRCm39) S641T probably damaging Het
Espn T A 4: 152,222,901 (GRCm39) T326S probably benign Het
Extl1 T C 4: 134,086,514 (GRCm39) M514V probably benign Het
Fancc G A 13: 63,509,452 (GRCm39) L134F probably damaging Het
Gdi2 A G 13: 3,614,611 (GRCm39) T319A probably benign Het
Gjc3 A G 5: 137,956,120 (GRCm39) F55S probably damaging Het
Gm10762 C T 2: 128,809,005 (GRCm39) probably benign Het
Got1 A G 19: 43,493,048 (GRCm39) I291T possibly damaging Het
Gpr179 C A 11: 97,229,012 (GRCm39) G1048* probably null Het
Ino80 T A 2: 119,287,199 (GRCm39) D56V possibly damaging Het
Kcp C A 6: 29,496,638 (GRCm39) C624F probably damaging Het
Kctd1 T A 18: 15,102,610 (GRCm39) Q857L probably damaging Het
Lins1 G A 7: 66,363,676 (GRCm39) V524I probably damaging Het
Lrp1 A T 10: 127,430,901 (GRCm39) Y383N probably damaging Het
Mgam A C 6: 40,621,879 (GRCm39) K84Q probably benign Het
Mib2 T A 4: 155,739,393 (GRCm39) E862V probably damaging Het
Myh1 G T 11: 67,112,977 (GRCm39) R1827L possibly damaging Het
Myh10 T C 11: 68,642,866 (GRCm39) probably null Het
Myo1e A G 9: 70,245,048 (GRCm39) Y382C probably benign Het
Nktr G A 9: 121,570,218 (GRCm39) probably null Het
Nlrc4 A G 17: 74,752,706 (GRCm39) I559T probably damaging Het
Nod2 A T 8: 89,390,364 (GRCm39) M224L probably benign Het
Or4d5 A G 9: 40,012,558 (GRCm39) I76T probably benign Het
Or52n4 A T 7: 104,293,687 (GRCm39) Y295* probably null Het
Or5k8 G A 16: 58,644,958 (GRCm39) T38I probably damaging Het
Pex7 G T 10: 19,770,557 (GRCm39) probably benign Het
Ptprb A T 10: 116,175,341 (GRCm39) D1112V probably benign Het
Rubcn G A 16: 32,647,666 (GRCm39) T636M probably damaging Het
Scn5a A C 9: 119,315,536 (GRCm39) L1724R probably damaging Het
Sec14l2 T C 11: 4,066,710 (GRCm39) D34G possibly damaging Het
Serpina3k A G 12: 104,306,882 (GRCm39) D38G probably benign Het
Sh3bgr A C 16: 96,007,690 (GRCm39) K18N probably damaging Het
Sh3bp5l A T 11: 58,236,886 (GRCm39) H281L probably benign Het
Slc28a2 T G 2: 122,282,538 (GRCm39) I287M probably damaging Het
Slc2a1 T A 4: 118,989,435 (GRCm39) M45K possibly damaging Het
Syt11 A G 3: 88,669,523 (GRCm39) I123T probably benign Het
Tfg C A 16: 56,514,856 (GRCm39) probably benign Het
Tmem177 T C 1: 119,837,791 (GRCm39) D296G probably damaging Het
Trabd2b A G 4: 114,457,153 (GRCm39) I357V probably benign Het
Trp63 C A 16: 25,639,135 (GRCm39) probably benign Het
Ugt1a8 T C 1: 88,015,617 (GRCm39) L10P probably benign Het
Vmn2r103 A G 17: 20,032,696 (GRCm39) I823M probably damaging Het
Vmn2r45 T C 7: 8,484,467 (GRCm39) N446S probably damaging Het
Vps13c A T 9: 67,820,486 (GRCm39) probably null Het
Vwa3b C T 1: 37,193,117 (GRCm39) T11I probably benign Het
Vwf A C 6: 125,654,933 (GRCm39) Q2543P probably damaging Het
Yap1 G A 9: 7,934,742 (GRCm39) probably benign Het
Zfp282 A C 6: 47,874,770 (GRCm39) D325A probably damaging Het
Zfyve9 T G 4: 108,539,348 (GRCm39) Y975S probably damaging Het
Other mutations in Fis1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0650:Fis1 UTSW 5 136,991,048 (GRCm39) missense probably damaging 0.98
R1077:Fis1 UTSW 5 136,994,000 (GRCm39) missense probably damaging 1.00
R1920:Fis1 UTSW 5 136,994,461 (GRCm39) missense probably benign 0.07
R2848:Fis1 UTSW 5 136,991,971 (GRCm39) missense possibly damaging 0.91
R2849:Fis1 UTSW 5 136,991,971 (GRCm39) missense possibly damaging 0.91
R4678:Fis1 UTSW 5 136,991,951 (GRCm39) missense possibly damaging 0.67
R5410:Fis1 UTSW 5 136,994,420 (GRCm39) missense probably damaging 1.00
R6229:Fis1 UTSW 5 136,994,528 (GRCm39) splice site probably null
R8331:Fis1 UTSW 5 136,991,987 (GRCm39) critical splice donor site probably null
R8406:Fis1 UTSW 5 136,991,865 (GRCm39) missense probably benign 0.04
R8742:Fis1 UTSW 5 136,982,365 (GRCm39) start gained probably benign
R8745:Fis1 UTSW 5 136,982,365 (GRCm39) start gained probably benign
R9548:Fis1 UTSW 5 136,991,907 (GRCm39) missense probably benign 0.43
Posted On 2013-11-05