Incidental Mutation 'R5720:Ctf1'
ID 451411
Institutional Source Beutler Lab
Gene Symbol Ctf1
Ensembl Gene ENSMUSG00000042340
Gene Name cardiotrophin 1
Synonyms CT-1
MMRRC Submission 043188-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R5720 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127311908-127317364 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 127316174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047393] [ENSMUST00000047393] [ENSMUST00000076091] [ENSMUST00000206038] [ENSMUST00000206506] [ENSMUST00000206506] [ENSMUST00000206997] [ENSMUST00000206997]
AlphaFold Q60753
Predicted Effect probably null
Transcript: ENSMUST00000047393
SMART Domains Protein: ENSMUSP00000049161
Gene: ENSMUSG00000042340

DomainStartEndE-ValueType
SCOP:d1cnt1_ 21 197 1e-60 SMART
Predicted Effect probably null
Transcript: ENSMUST00000047393
SMART Domains Protein: ENSMUSP00000049161
Gene: ENSMUSG00000042340

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 null
Transcript: ENSMUST00000206506
Predicted Effect probably null
Transcript: ENSMUST00000206506
Predicted Effect probably null
Transcript: ENSMUST00000206997
Predicted Effect probably null
Transcript: ENSMUST00000206997
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 4: 140,308,930 (GRCm39) probably benign Het
Cdh23 T C 10: 60,228,802 (GRCm39) T1125A possibly damaging Het
Cplane1 T A 15: 8,233,171 (GRCm39) N1165K probably benign Het
Defb26 T C 2: 152,350,122 (GRCm39) N53D possibly damaging Het
Dhtkd1 T C 2: 5,907,825 (GRCm39) T787A probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxl7 A G 15: 26,552,979 (GRCm39) L96P probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gpr65 A T 12: 98,241,361 (GRCm39) S5C probably damaging Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Itga8 G A 2: 12,115,898 (GRCm39) S76L probably damaging Het
Mpdz A T 4: 81,205,931 (GRCm39) F1810Y probably damaging Het
Nfrkb T C 9: 31,306,038 (GRCm39) L126P probably damaging Het
Or4a77 T C 2: 89,487,299 (GRCm39) Y162C probably benign Het
Primpol A G 8: 47,034,677 (GRCm39) V417A probably damaging Het
Pus1 C T 5: 110,925,584 (GRCm39) E79K probably damaging Het
Rspo2 C T 15: 43,033,210 (GRCm39) C4Y probably benign Het
Serpina12 T C 12: 104,004,563 (GRCm39) D23G probably benign Het
Serpind1 A T 16: 17,157,696 (GRCm39) R297S probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc17a6 C T 7: 51,275,145 (GRCm39) P68L probably damaging Het
Slc6a5 C T 7: 49,606,264 (GRCm39) P724L possibly damaging Het
Spaca7 A G 8: 12,649,004 (GRCm39) E166G possibly damaging Het
Supt5 A G 7: 28,021,993 (GRCm39) S345P probably damaging Het
Syne2 G A 12: 76,014,441 (GRCm39) D3211N probably benign Het
Tmem132e G A 11: 82,333,276 (GRCm39) probably null Het
Trappc14 A G 5: 138,261,964 (GRCm39) V44A probably benign Het
Zfp384 T C 6: 125,013,587 (GRCm39) S536P probably benign Het
Other mutations in Ctf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03339:Ctf1 APN 7 127,313,166 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GACATTGGGTATGCAATGCC -3'
(R):5'- AGATGCCTGCAGTGCTGTTG -3'

Sequencing Primer
(F):5'- GTAGGctctgtcatttgc -3'
(R):5'- AGCACTGTCTCCACCGC -3'
Posted On 2017-01-03