Incidental Mutation 'IGL03339:Ctf1'
ID 417143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctf1
Ensembl Gene ENSMUSG00000042340
Gene Name cardiotrophin 1
Synonyms CT-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # IGL03339
Quality Score
Status
Chromosome 7
Chromosomal Location 127311908-127317364 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127313166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 24 (N24S)
Ref Sequence ENSEMBL: ENSMUSP00000146199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047393] [ENSMUST00000076091] [ENSMUST00000206038] [ENSMUST00000206506] [ENSMUST00000206997]
AlphaFold Q60753
Predicted Effect probably benign
Transcript: ENSMUST00000047393
AA Change: N32S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000049161
Gene: ENSMUSG00000042340
AA Change: N32S

DomainStartEndE-ValueType
SCOP:d1cnt1_ 21 197 1e-60 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076091
SMART Domains Protein: ENSMUSP00000075459
Gene: ENSMUSG00000060034

DomainStartEndE-ValueType
Pfam:CNTF 22 204 1.6e-15 PFAM
Pfam:PRF 31 204 1.4e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205655
Predicted Effect probably benign
Transcript: ENSMUST00000206038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206073
Predicted Effect probably benign
Transcript: ENSMUST00000206506
AA Change: N25S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000206997
AA Change: N24S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show a significant reduction in grip strength and increased motoneuron cell death in the spinal cord and brainstem nuclei between embryonic day 14 and the first postnatal week. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
A4gnt T C 9: 99,502,601 (GRCm39) S254P probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Cx3cr1 T A 9: 119,880,503 (GRCm39) K300* probably null Het
Ddx25 A T 9: 35,453,299 (GRCm39) Y484N probably damaging Het
Eif4g1 A G 16: 20,499,734 (GRCm39) E506G possibly damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Hoxc5 T C 15: 102,922,568 (GRCm39) Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Or5b122 T G 19: 13,563,439 (GRCm39) M257R probably damaging Het
Pcolce2 T C 9: 95,560,393 (GRCm39) probably benign Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Tlcd4 C T 3: 121,022,489 (GRCm39) probably benign Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Vmn1r219 T G 13: 23,347,580 (GRCm39) S256R possibly damaging Het
Other mutations in Ctf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1934:Ctf1 UTSW 7 127,311,936 (GRCm39) missense probably damaging 0.99
R4710:Ctf1 UTSW 7 127,316,252 (GRCm39) missense probably damaging 1.00
R5720:Ctf1 UTSW 7 127,316,174 (GRCm39) critical splice acceptor site probably null
R8548:Ctf1 UTSW 7 127,316,564 (GRCm39) missense probably benign 0.02
R9291:Ctf1 UTSW 7 127,316,204 (GRCm39) missense probably damaging 0.98
R9513:Ctf1 UTSW 7 127,316,180 (GRCm39) frame shift probably null
Posted On 2016-08-02