Incidental Mutation 'R8548:Ctf1'
ID 659744
Institutional Source Beutler Lab
Gene Symbol Ctf1
Ensembl Gene ENSMUSG00000042340
Gene Name cardiotrophin 1
Synonyms CT-1
MMRRC Submission 068513-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R8548 (G1)
Quality Score 173.009
Status Not validated
Chromosome 7
Chromosomal Location 127311908-127317364 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127316564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 171 (H171L)
Ref Sequence ENSEMBL: ENSMUSP00000145586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047393] [ENSMUST00000076091] [ENSMUST00000206038] [ENSMUST00000206506] [ENSMUST00000206997]
AlphaFold Q60753
Predicted Effect probably benign
Transcript: ENSMUST00000047393
AA Change: H178L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000049161
Gene: ENSMUSG00000042340
AA Change: H178L

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 probably benign
Transcript: ENSMUST00000206038
Predicted Effect probably benign
Transcript: ENSMUST00000206506
AA Change: H171L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000206997
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A T 5: 121,658,165 (GRCm39) L376Q probably damaging Het
Akirin1 A G 4: 123,631,831 (GRCm39) M179T possibly damaging Het
Ap5b1 G T 19: 5,621,123 (GRCm39) V848L possibly damaging Het
Apoa2 T A 1: 171,053,798 (GRCm39) M91K probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cdc20 A C 4: 118,293,535 (GRCm39) S160A possibly damaging Het
Cftr G T 6: 18,273,698 (GRCm39) V839L possibly damaging Het
Dmac2 T A 7: 25,324,217 (GRCm39) M225K probably damaging Het
Dmbx1 A T 4: 115,777,512 (GRCm39) V112E probably damaging Het
Eloa T C 4: 135,732,988 (GRCm39) K754R probably damaging Het
Ern2 G A 7: 121,777,062 (GRCm39) T286I probably damaging Het
Fam135b T C 15: 71,334,659 (GRCm39) D845G probably damaging Het
Fbxl6 T A 15: 76,421,542 (GRCm39) M232L possibly damaging Het
Gpr171 A T 3: 59,005,400 (GRCm39) I125K probably damaging Het
Hoxa2 G A 6: 52,140,098 (GRCm39) T296I probably damaging Het
Hspa8 A G 9: 40,713,767 (GRCm39) M87V probably benign Het
Ilkap G T 1: 91,318,882 (GRCm39) D31E possibly damaging Het
Ints9 T C 14: 65,269,770 (GRCm39) S487P probably benign Het
Macc1 T A 12: 119,414,091 (GRCm39) S756T probably benign Het
Map2 A G 1: 66,452,499 (GRCm39) D545G probably damaging Het
Mapkbp1 A G 2: 119,854,572 (GRCm39) N1390D probably benign Het
Mgat5 G A 1: 127,248,409 (GRCm39) V104M possibly damaging Het
Myoz2 T A 3: 122,827,916 (GRCm39) M1L possibly damaging Het
Nmt1 A G 11: 102,934,052 (GRCm39) K64E possibly damaging Het
Nr6a1 C A 2: 38,619,550 (GRCm39) Q448H probably damaging Het
Nr6a1 T G 2: 38,619,551 (GRCm39) Q448P probably damaging Het
Odf2 T C 2: 29,783,526 (GRCm39) probably null Het
Or8g37 T A 9: 39,731,537 (GRCm39) C201S probably benign Het
Osbpl6 A G 2: 76,409,566 (GRCm39) N476S possibly damaging Het
Pclo A G 5: 14,732,268 (GRCm39) probably null Het
Plxnd1 C T 6: 115,934,558 (GRCm39) D1792N probably damaging Het
Prdm11 C T 2: 92,843,103 (GRCm39) V119M probably damaging Het
Prss23 A G 7: 89,159,416 (GRCm39) F218L probably benign Het
Rflnb A G 11: 75,913,047 (GRCm39) Y114H probably damaging Het
Skor2 T A 18: 76,946,581 (GRCm39) I101N unknown Het
Sp8 A C 12: 118,812,910 (GRCm39) Y255S possibly damaging Het
Srfbp1 G A 18: 52,621,463 (GRCm39) V175I probably benign Het
Stxbp5 C T 10: 9,693,050 (GRCm39) D359N probably null Het
Thnsl1 A G 2: 21,217,733 (GRCm39) I496V possibly damaging Het
Usp32 G A 11: 84,908,653 (GRCm39) P1018S possibly damaging Het
Usp7 A T 16: 8,529,939 (GRCm39) V142E possibly damaging 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
R5720:Ctf1 UTSW 7 127,316,174 (GRCm39) critical splice acceptor site probably null
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'- TTCCACAGGTGCAGCAACAG -3'
(R):5'- AAGAAGCTCCCTGCAGAGAG -3'

Sequencing Primer
(F):5'- ATGCAGGGCTACCGGTGTC -3'
(R):5'- TCCCTGCAGAGAGGAGAGC -3'
Posted On 2021-01-18