Incidental Mutation 'R9291:Ctf1'
ID 704281
Institutional Source Beutler Lab
Gene Symbol Ctf1
Ensembl Gene ENSMUSG00000042340
Gene Name cardiotrophin 1
Synonyms CT-1
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R9291 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 127311908-127317364 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127316204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 58 (L58Q)
Ref Sequence ENSEMBL: ENSMUSP00000049161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047393] [ENSMUST00000076091] [ENSMUST00000206038] [ENSMUST00000206506] [ENSMUST00000206997]
AlphaFold Q60753
Predicted Effect probably damaging
Transcript: ENSMUST00000047393
AA Change: L58Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000049161
Gene: ENSMUSG00000042340
AA Change: L58Q

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 damaging
Transcript: ENSMUST00000206506
AA Change: L51Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000206997
AA Change: L50Q

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,464 (GRCm39) N551S probably benign Het
Abcg5 C A 17: 84,976,380 (GRCm39) V486L probably benign Het
Acoxl T A 2: 127,814,493 (GRCm39) I303N probably damaging Het
Atp6v1h G T 1: 5,220,284 (GRCm39) W464L probably null Het
Cdcp2 A G 4: 106,964,053 (GRCm39) D301G probably damaging Het
Cenpv T C 11: 62,429,688 (GRCm39) D115G probably benign Het
Cnfn T C 7: 25,067,476 (GRCm39) D67G possibly damaging Het
Col27a1 A C 4: 63,142,539 (GRCm39) I76L probably damaging Het
Crb2 G A 2: 37,682,213 (GRCm39) V865I probably damaging Het
Dennd6b C T 15: 89,071,590 (GRCm39) V276M possibly damaging Het
Dis3l2 A G 1: 86,901,215 (GRCm39) T483A possibly damaging Het
Dlg5 T C 14: 24,241,229 (GRCm39) T223A probably damaging Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnah8 T C 17: 30,944,099 (GRCm39) I1772T probably damaging Het
Dscaml1 T C 9: 45,359,251 (GRCm39) I170T probably damaging Het
Ehd4 G T 2: 119,921,755 (GRCm39) D500E probably damaging Het
Elac2 T C 11: 64,883,142 (GRCm39) I388T probably damaging Het
Entpd6 G A 2: 150,608,959 (GRCm39) V348M probably benign Het
Epg5 T A 18: 78,056,065 (GRCm39) C1746* probably null Het
Exosc2 G T 2: 31,560,871 (GRCm39) M40I probably benign Het
Fam193a T C 5: 34,593,835 (GRCm39) Y27H probably damaging Het
Gm8005 A G 14: 42,258,885 (GRCm39) F148L Het
Hectd4 T C 5: 121,487,028 (GRCm39) V3341A probably benign Het
Hecw1 A G 13: 14,491,522 (GRCm39) V77A probably benign Het
Irf2bp1 T A 7: 18,738,458 (GRCm39) C33S probably damaging Het
Kank4 A T 4: 98,666,688 (GRCm39) H586Q probably benign Het
Kcnu1 A G 8: 26,390,041 (GRCm39) N619S probably benign Het
Kndc1 A G 7: 139,475,140 (GRCm39) E13G possibly damaging Het
Lrp2 A T 2: 69,310,379 (GRCm39) D2731E probably damaging Het
Lyst A G 13: 13,883,938 (GRCm39) N2942S probably benign Het
Maml3 G A 3: 51,764,328 (GRCm39) T212M probably benign Het
Mill2 T C 7: 18,575,416 (GRCm39) V41A probably benign Het
Moxd2 C A 6: 40,857,362 (GRCm39) C466F probably damaging Het
Nefh A G 11: 4,890,871 (GRCm39) S583P probably benign Het
Nlrp9b T A 7: 19,758,511 (GRCm39) S583T possibly damaging Het
Nup214 T G 2: 31,867,806 (GRCm39) M91R probably benign Het
Or4c121 A C 2: 89,024,138 (GRCm39) M80R possibly damaging Het
Or6c206 T C 10: 129,097,202 (GRCm39) I124T probably damaging Het
Or8k53 A T 2: 86,177,768 (GRCm39) I114N probably benign Het
Otud4 A G 8: 80,372,952 (GRCm39) Y90C probably damaging Het
Papln C A 12: 83,825,284 (GRCm39) T575N probably benign Het
Pkhd1l1 T A 15: 44,433,372 (GRCm39) N3417K probably damaging Het
Pop7 A G 5: 137,499,911 (GRCm39) *141Q probably null Het
Pramel26 A T 4: 143,539,251 (GRCm39) Y81N probably benign Het
Rchy1 A G 5: 92,099,765 (GRCm39) L191S possibly damaging Het
Rims1 T C 1: 22,467,746 (GRCm39) D296G Het
Sftpb T A 6: 72,286,880 (GRCm39) C261* probably null Het
Sgcd C T 11: 46,870,166 (GRCm39) C265Y probably damaging Het
Slc44a5 G A 3: 153,962,218 (GRCm39) V384M possibly damaging Het
Slx4ip T A 2: 136,888,716 (GRCm39) N132K probably benign Het
Sspo C T 6: 48,473,330 (GRCm39) T4861M probably damaging Het
Swt1 T A 1: 151,286,694 (GRCm39) E266V probably damaging Het
Tbc1d9 A G 8: 83,987,750 (GRCm39) D903G probably damaging Het
Tbx18 A T 9: 87,611,535 (GRCm39) M165K probably damaging Het
Tmem25 T C 9: 44,706,799 (GRCm39) N282S probably damaging Het
Tom1l2 T C 11: 60,153,556 (GRCm39) I140M probably benign Het
Trak2 A G 1: 58,943,058 (GRCm39) S783P probably damaging Het
Trpv4 G A 5: 114,768,068 (GRCm39) T534M probably benign Het
Ttc6 G T 12: 57,622,730 (GRCm39) R43M probably damaging Het
Vmn1r194 A G 13: 22,428,875 (GRCm39) Y164C probably benign Het
Vmn1r228 T C 17: 20,997,023 (GRCm39) Y165C probably benign Het
Vps13b C A 15: 35,847,059 (GRCm39) T2614K probably damaging Het
Zdhhc14 T C 17: 5,698,237 (GRCm39) F102S probably benign Het
Zyg11b A G 4: 108,108,014 (GRCm39) M464T 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
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
R9513:Ctf1 UTSW 7 127,316,180 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CAAAGACATTGGGTATGCAATGC -3'
(R):5'- AGATGCCTGCAGTGCTGTTG -3'

Sequencing Primer
(F):5'- GTAGGctctgtcatttgc -3'
(R):5'- AGCACTGTCTCCACCGC -3'
Posted On 2022-03-25