Incidental Mutation 'R6992:Cntf'
ID 543942
Institutional Source Beutler Lab
Gene Symbol Cntf
Ensembl Gene ENSMUSG00000079415
Gene Name ciliary neurotrophic factor
Synonyms
MMRRC Submission 045098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6992 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 12741024-12742996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12742697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 21 (I21N)
Ref Sequence ENSEMBL: ENSMUSP00000108555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038627] [ENSMUST00000112933] [ENSMUST00000142247]
AlphaFold P51642
Predicted Effect probably benign
Transcript: ENSMUST00000038627
SMART Domains Protein: ENSMUSP00000037971
Gene: ENSMUSG00000024695

DomainStartEndE-ValueType
low complexity region 21 27 N/A INTRINSIC
low complexity region 35 43 N/A INTRINSIC
low complexity region 72 92 N/A INTRINSIC
low complexity region 98 114 N/A INTRINSIC
low complexity region 120 135 N/A INTRINSIC
low complexity region 143 167 N/A INTRINSIC
low complexity region 207 226 N/A INTRINSIC
coiled coil region 256 284 N/A INTRINSIC
ZnF_C2H2 313 338 1.08e-1 SMART
ZnF_C2H2 344 368 7.15e-2 SMART
ZnF_C2H2 374 396 1.56e-2 SMART
ZnF_C2H2 402 424 2.61e-4 SMART
ZnF_C2H2 432 455 1.92e-2 SMART
low complexity region 459 471 N/A INTRINSIC
low complexity region 491 502 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112933
AA Change: I21N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108555
Gene: ENSMUSG00000079415
AA Change: I21N

DomainStartEndE-ValueType
Pfam:CNTF 1 194 4.2e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142247
SMART Domains Protein: ENSMUSP00000124424
Gene: ENSMUSG00000024695

DomainStartEndE-ValueType
low complexity region 21 27 N/A INTRINSIC
low complexity region 35 43 N/A INTRINSIC
low complexity region 72 92 N/A INTRINSIC
low complexity region 98 114 N/A INTRINSIC
low complexity region 120 135 N/A INTRINSIC
low complexity region 143 167 N/A INTRINSIC
low complexity region 207 226 N/A INTRINSIC
coiled coil region 256 284 N/A INTRINSIC
ZnF_C2H2 313 338 1.08e-1 SMART
ZnF_C2H2 344 368 7.15e-2 SMART
ZnF_C2H2 374 396 1.56e-2 SMART
ZnF_C2H2 402 424 2.61e-4 SMART
ZnF_C2H2 432 455 1.92e-2 SMART
low complexity region 459 471 N/A INTRINSIC
low complexity region 491 502 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes, and it may be involved in reducing tissue destruction during inflammatory attacks. A read-through transcript variant composed of Zfp91 and Cntf sequences has been identified, but it is thought to be non-coding. Read-through transcription of Zfp91 and Cntf has been observed in both human and mouse. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display progressive atrophy and degeneration of motor neurons in adulthood and reduced muscle strength. Another allele does not display any overt abnormalities at birth, however motor neuron sprouting does not occur after damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,099,990 (GRCm39) S171N possibly damaging Het
6030468B19Rik T G 11: 117,688,594 (GRCm39) M1R probably null Het
A730049H05Rik T C 6: 92,804,975 (GRCm39) probably benign Het
AC125199.3 G T 16: 88,608,915 (GRCm39) H52Q possibly damaging Het
Adam34 A T 8: 44,105,642 (GRCm39) M1K probably null Het
Adgrf5 T C 17: 43,763,214 (GRCm39) probably null Het
Antxr2 T C 5: 98,108,564 (GRCm39) T316A probably benign Het
Cc2d1a A T 8: 84,861,542 (GRCm39) V714D probably damaging Het
Cd96 A G 16: 45,870,087 (GRCm39) S461P possibly damaging Het
Cdc16 C A 8: 13,809,188 (GRCm39) A51E probably benign Het
Chd4 T A 6: 125,091,339 (GRCm39) D1243E probably benign Het
Col11a2 C T 17: 34,266,118 (GRCm39) A282V probably benign Het
Col14a1 T A 15: 55,274,958 (GRCm39) probably null Het
Cyp2b9 T C 7: 25,900,564 (GRCm39) Y401H probably benign Het
Dlgap4 A G 2: 156,590,860 (GRCm39) probably null Het
Fancd2 T C 6: 113,547,979 (GRCm39) probably null Het
Fcgbpl1 T A 7: 27,839,608 (GRCm39) F474I probably benign Het
Frem1 A G 4: 82,858,599 (GRCm39) V1622A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Gstm4 A G 3: 107,951,981 (GRCm39) M3T possibly damaging Het
Hdac10 T C 15: 89,009,534 (GRCm39) D466G probably benign Het
Hook2 A G 8: 85,729,185 (GRCm39) E625G probably damaging Het
Hspbp1 G C 7: 4,667,714 (GRCm39) P260A probably benign Het
Igdcc3 C A 9: 65,088,853 (GRCm39) Q411K probably damaging Het
Il18rap G A 1: 40,581,195 (GRCm39) E356K probably benign Het
Inpp4a A T 1: 37,428,772 (GRCm39) M699L probably damaging Het
Klhdc1 A G 12: 69,300,531 (GRCm39) H157R probably damaging Het
Klhl6 G T 16: 19,772,337 (GRCm39) T336N probably damaging Het
Marchf7 T C 2: 60,059,428 (GRCm39) probably null Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlh3 T A 12: 85,282,494 (GRCm39) N1412Y probably damaging Het
Mrps27 A G 13: 99,541,522 (GRCm39) M209V probably benign Het
Mtor A T 4: 148,548,932 (GRCm39) T572S probably benign Het
Neurog1 T C 13: 56,399,363 (GRCm39) K128R probably damaging Het
Or10g6 T A 9: 39,933,896 (GRCm39) L69* probably null Het
Or2b4 T A 17: 38,116,754 (GRCm39) N239K probably damaging Het
Or5b122 A G 19: 13,562,811 (GRCm39) I48V possibly damaging Het
Pcdhgb1 A G 18: 37,814,652 (GRCm39) K381R probably benign Het
Pdzd2 T C 15: 12,457,945 (GRCm39) D306G probably damaging Het
Plekha5 C T 6: 140,489,634 (GRCm39) T237I probably damaging Het
Plscr1l1 T C 9: 92,236,725 (GRCm39) M128T probably benign Het
Pole A T 5: 110,480,365 (GRCm39) I103F probably damaging Het
Ppfia2 A T 10: 106,310,715 (GRCm39) Q74L possibly damaging Het
Ppm1d T C 11: 85,223,178 (GRCm39) F261S probably damaging Het
Psg21 A T 7: 18,388,668 (GRCm39) probably null Het
Ptprg T A 14: 11,962,602 (GRCm38) F133L probably damaging Het
Rom1 G A 19: 8,906,569 (GRCm39) probably benign Het
Rtn3 A G 19: 7,412,489 (GRCm39) F762L probably damaging Het
Sec23ip T C 7: 128,367,164 (GRCm39) S600P probably benign Het
Sema4b T A 7: 79,869,900 (GRCm39) I396N probably damaging Het
Serpina3k T A 12: 104,307,366 (GRCm39) D199E probably benign Het
Slc19a1 A G 10: 76,885,540 (GRCm39) D480G possibly damaging Het
Slc8b1 G A 5: 120,665,880 (GRCm39) V404M probably damaging Het
Slco1a4 T C 6: 141,765,330 (GRCm39) D304G probably benign Het
Smpdl3b G T 4: 132,472,452 (GRCm39) A107D possibly damaging Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tmem245 A G 4: 56,937,940 (GRCm39) F203L probably benign Het
Tnip1 T A 11: 54,809,542 (GRCm39) I442F probably benign Het
Txnip A G 3: 96,466,439 (GRCm39) K127R possibly damaging Het
Usp32 A C 11: 84,922,914 (GRCm39) L172R probably damaging Het
Vmn2r66 A G 7: 84,654,436 (GRCm39) S508P possibly damaging Het
Vwa5b2 T A 16: 20,416,952 (GRCm39) Y550N probably damaging Het
Wdr81 G A 11: 75,342,612 (GRCm39) A885V probably benign Het
Other mutations in Cntf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4890:Cntf UTSW 19 12,741,326 (GRCm39) missense possibly damaging 0.91
R5148:Cntf UTSW 19 12,741,368 (GRCm39) missense probably damaging 1.00
R5890:Cntf UTSW 19 12,741,357 (GRCm39) missense probably damaging 1.00
R7585:Cntf UTSW 19 12,741,587 (GRCm39) nonsense probably null
R8845:Cntf UTSW 19 12,741,664 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GACTAGGGAGCTATACCATAAATACAC -3'
(R):5'- CCACAGCCAGGAATTTGCTG -3'

Sequencing Primer
(F):5'- GAGCTATACCATAAATACACACACAC -3'
(R):5'- GGAATTTGCTGCCACCTCTGAG -3'
Posted On 2019-05-13