Incidental Mutation 'R2848:Fis1'
ID 251826
Institutional Source Beutler Lab
Gene Symbol Fis1
Ensembl Gene ENSMUSG00000019054
Gene Name fission, mitochondrial 1
Synonyms Ttc11, 2010003O14Rik
MMRRC Submission 040441-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2848 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 136982129-136995088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136991971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 55 (I55T)
Ref Sequence ENSEMBL: ENSMUSP00000019198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001790] [ENSMUST00000019198] [ENSMUST00000111093] [ENSMUST00000111094] [ENSMUST00000111097]
AlphaFold Q9CQ92
PDB Structure Solution structure of RSGI RUH-001, a Fis1p-like and CGI-135 homologous domain from a mouse cDNA [SOLUTION NMR]
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 possibly damaging
Transcript: ENSMUST00000019198
AA Change: I55T

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019198
Gene: ENSMUSG00000019054
AA Change: I55T

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: I48T

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106723
Gene: ENSMUSG00000019054
AA Change: I48T

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
SMART Domains Protein: ENSMUSP00000106726
Gene: ENSMUSG00000019054

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik A T 7: 126,429,894 (GRCm39) F101Y possibly damaging Het
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Adamts14 T A 10: 61,054,214 (GRCm39) Q606L probably damaging Het
Adgrf5 C A 17: 43,733,531 (GRCm39) N118K possibly damaging Het
Baz2b A T 2: 59,755,010 (GRCm39) Y1073N possibly damaging Het
Celf2 T C 2: 6,608,936 (GRCm39) R282G probably damaging Het
Cntnap5c A T 17: 58,183,387 (GRCm39) D31V probably damaging Het
Cobl A G 11: 12,328,342 (GRCm39) L81P probably damaging Het
Cpsf1 A T 15: 76,487,051 (GRCm39) L209Q probably damaging Het
Crocc G A 4: 140,746,067 (GRCm39) A1684V probably damaging Het
Cyp4f37 T A 17: 32,848,099 (GRCm39) C206S probably damaging Het
Dnah3 A G 7: 119,567,161 (GRCm39) V2355A probably benign Het
Dnah6 T C 6: 73,106,314 (GRCm39) K1756E probably benign Het
Gm2381 G A 7: 42,469,831 (GRCm39) P98S probably damaging Het
Gpr37 C T 6: 25,666,945 (GRCm39) probably benign Het
Grin2a A G 16: 9,579,829 (GRCm39) F145L possibly damaging Het
Htr4 T C 18: 62,561,197 (GRCm39) S153P probably damaging Het
Igkv9-120 T A 6: 68,027,128 (GRCm39) probably benign Het
Il12rb1 G A 8: 71,268,446 (GRCm39) W396* probably null Het
Itga8 A T 2: 12,165,215 (GRCm39) V798D probably damaging Het
Lfng T A 5: 140,597,622 (GRCm39) D149E probably damaging Het
Magi2 A AG 5: 20,807,459 (GRCm39) probably null Het
Mgam C A 6: 40,629,649 (GRCm39) A86E possibly damaging Het
Myh4 A G 11: 67,139,459 (GRCm39) N592S probably benign Het
Naa16 A G 14: 79,573,323 (GRCm39) C816R probably damaging Het
Nek8 A G 11: 78,058,967 (GRCm39) S513P probably damaging Het
Ociad1 A G 5: 73,451,694 (GRCm39) probably null Het
Or1j4 A G 2: 36,740,811 (GRCm39) Y251C probably damaging Het
Or2t35 C T 14: 14,407,398 (GRCm38) P57S probably damaging Het
Or4g7 T C 2: 111,309,699 (GRCm39) M190T probably benign Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Pcdh7 G A 5: 57,877,618 (GRCm39) G391E probably damaging Het
Pcdhga10 T A 18: 37,881,253 (GRCm39) V338E possibly damaging Het
Pde4b C T 4: 102,458,742 (GRCm39) A466V probably damaging Het
Peg10 C T 6: 4,756,912 (GRCm39) probably benign Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Ppargc1a A G 5: 51,631,151 (GRCm39) F493L probably benign Het
Ptpra C A 2: 130,386,919 (GRCm39) H603Q probably benign Het
Rnf10 T C 5: 115,387,171 (GRCm39) D439G probably benign Het
Shfl A T 9: 20,784,868 (GRCm39) H225L probably damaging Het
Syt3 G A 7: 44,042,866 (GRCm39) V383I probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Try5 C T 6: 41,290,410 (GRCm39) V25I probably benign Het
Ttn G T 2: 76,749,551 (GRCm39) Q3833K probably benign Het
Usp53 G A 3: 122,728,140 (GRCm39) P814L probably benign Het
Utp25 A T 1: 192,810,759 (GRCm39) N81K probably benign Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn2r114 A T 17: 23,509,948 (GRCm39) M844K probably benign Het
Vwa8 G T 14: 79,184,582 (GRCm39) R360L probably benign Het
Xlr4b A T X: 72,258,938 (GRCm39) Q25L probably null Het
Zfp532 T A 18: 65,789,697 (GRCm39) H1045Q possibly damaging Het
Zfp985 G A 4: 147,667,468 (GRCm39) W112* probably null Het
Other mutations in Fis1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Fis1 APN 5 136,994,828 (GRCm39) missense probably benign 0.38
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
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
Predicted Primers PCR Primer
(F):5'- GGGATTCAGACATCAAGTTAGCTG -3'
(R):5'- ACTGTTCAGATGCTGGGGAC -3'

Sequencing Primer
(F):5'- CATCAAGTTAGCTGGAGAATGATTGC -3'
(R):5'- CGTAGAGAATCAATCTAGCCCTTTC -3'
Posted On 2014-12-04