Incidental Mutation 'R8406:Fis1'
ID 652406
Institutional Source Beutler Lab
Gene Symbol Fis1
Ensembl Gene ENSMUSG00000019054
Gene Name fission, mitochondrial 1
Synonyms Ttc11, 2010003O14Rik
MMRRC Submission 067765-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8406 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 136982129-136995088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136991865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 20 (K20E)
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 probably benign
Transcript: ENSMUST00000019198
AA Change: K20E

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000019198
Gene: ENSMUSG00000019054
AA Change: K20E

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 possibly damaging
Transcript: ENSMUST00000111094
AA Change: K13E

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106723
Gene: ENSMUSG00000019054
AA Change: K13E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,977,343 (GRCm39) F139L probably damaging Het
Adgrg6 A T 10: 14,343,082 (GRCm39) D288E probably benign Het
Agbl1 A G 7: 76,068,415 (GRCm39) E327G Het
Aipl1 T A 11: 71,922,332 (GRCm39) M126L possibly damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Arl3 A T 19: 46,530,823 (GRCm39) S157T probably benign Het
Armc3 A T 2: 19,240,365 (GRCm39) I41F probably damaging Het
Atg9a A C 1: 75,167,028 (GRCm39) Y8D probably damaging Het
Atp10b T G 11: 43,093,984 (GRCm39) H509Q probably benign Het
Cabyr C A 18: 12,883,804 (GRCm39) T97K probably benign Het
Ccdc91 T C 6: 147,438,920 (GRCm39) F174S possibly damaging Het
Cep350 A T 1: 155,798,164 (GRCm39) H1207Q probably benign Het
Clstn3 A T 6: 124,439,136 (GRCm39) N40K probably damaging Het
Col4a4 G A 1: 82,501,611 (GRCm39) P381S unknown Het
Cpne5 A T 17: 29,428,455 (GRCm39) F116Y probably benign Het
Csf2rb2 T C 15: 78,171,216 (GRCm39) T457A probably benign Het
Cyb5d2 T C 11: 72,679,959 (GRCm39) E112G probably benign Het
Cyp2b13 T C 7: 25,781,223 (GRCm39) F212L probably benign Het
Dlx6 T G 6: 6,863,779 (GRCm39) S134A probably benign Het
Egln1 A G 8: 125,638,489 (GRCm39) Y380H probably benign Het
Fbxl13 A T 5: 21,728,652 (GRCm39) I479N probably damaging Het
Fhip1a G T 3: 85,580,027 (GRCm39) P726Q probably benign Het
Foxk1 G T 5: 142,387,528 (GRCm39) V84L unknown Het
Gdf5 C A 2: 155,784,272 (GRCm39) G227W probably damaging Het
Ghrh T A 2: 157,175,656 (GRCm39) T13S probably benign Het
Gnb2 A G 5: 137,526,865 (GRCm39) L308P probably damaging Het
Grik2 A T 10: 49,148,863 (GRCm39) V574D probably damaging Het
Hydin A T 8: 111,336,543 (GRCm39) I5107F possibly damaging Het
Kl A T 5: 150,906,229 (GRCm39) Y533F probably benign Het
Man2b1 G T 8: 85,822,907 (GRCm39) R816L probably damaging Het
Myo5c T C 9: 75,182,823 (GRCm39) Y821H probably damaging Het
Myo7b A T 18: 32,092,866 (GRCm39) C2076S probably damaging Het
Naip6 C T 13: 100,436,784 (GRCm39) A580T possibly damaging Het
Nectin2 A T 7: 19,472,275 (GRCm39) V38E probably damaging Het
Or13a24 A T 7: 140,154,044 (GRCm39) probably benign Het
Osbpl9 T C 4: 108,921,770 (GRCm39) Y536C possibly damaging Het
Pcdh18 T G 3: 49,710,998 (GRCm39) I106L probably damaging Het
Pde4dip T C 3: 97,606,428 (GRCm39) K2149E probably benign Het
Pds5a A T 5: 65,803,681 (GRCm39) C588S probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pop1 T C 15: 34,529,316 (GRCm39) M812T probably benign Het
Pou2f3 T C 9: 43,051,153 (GRCm39) T178A probably damaging Het
Rab44 C T 17: 29,359,294 (GRCm39) A494V unknown Het
Ros1 G C 10: 51,977,941 (GRCm39) T1456S possibly damaging Het
Rubcnl T G 14: 75,289,425 (GRCm39) F644L probably damaging Het
Saraf C T 8: 34,632,602 (GRCm39) P227L probably benign Het
Sh3glb1 T G 3: 144,397,198 (GRCm39) E383D probably damaging Het
Sh3rf3 T C 10: 58,919,407 (GRCm39) V508A probably damaging Het
Sirt6 A T 10: 81,458,328 (GRCm39) H308Q probably benign Het
Slc29a1 T A 17: 45,900,706 (GRCm39) I119F probably damaging Het
Smtnl1 C T 2: 84,648,742 (GRCm39) E171K probably benign Het
Spg11 T A 2: 121,923,923 (GRCm39) E799D probably damaging Het
Tecpr1 A T 5: 144,137,658 (GRCm39) W894R probably damaging Het
Tiam2 A C 17: 3,558,065 (GRCm39) I1230L possibly damaging Het
Tnfrsf8 A G 4: 145,019,265 (GRCm39) L190P probably damaging Het
Trim35 C T 14: 66,534,724 (GRCm39) T69M possibly damaging Het
Ttll7 T C 3: 146,645,779 (GRCm39) Y546H probably benign Het
Ubash3b C T 9: 40,940,971 (GRCm39) G389R probably damaging Het
Vma21-ps C T 4: 52,497,034 (GRCm39) V71I probably damaging Het
Vmn1r43 T A 6: 89,847,414 (GRCm39) H24L possibly damaging Het
Vps37c T A 19: 10,687,719 (GRCm39) L60Q probably damaging Het
Ythdf2 A G 4: 131,931,946 (GRCm39) W405R probably damaging Het
Zfp775 T C 6: 48,597,637 (GRCm39) C504R probably damaging Het
Zfp82 A G 7: 29,761,652 (GRCm39) probably null Het
Zpr1 T A 9: 46,185,400 (GRCm39) I127N probably damaging 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
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
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'- TCCTCTTGGTACCACTAGGG -3'
(R):5'- GGTCAAGCACAGTAGAGGTC -3'

Sequencing Primer
(F):5'- TACCACTAGGGGCTGGGTTC -3'
(R):5'- CAGTAGAGGTCAGGCTGGCTG -3'
Posted On 2020-10-20