Mutagenetix > Incidental Mutation

Incidental Mutation 'R5890:Cntf'

457135

Institutional Source

Beutler Lab

Gene Symbol

Cntf

Ensembl Gene

ENSMUSG00000079415

Gene Name

ciliary neurotrophic factor

Synonyms

MMRRC Submission

044091-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5890 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12741024-12742996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12741357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 168 (W168R)

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

Domain	Start	End	E-Value	Type
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: W168R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108555
Gene: ENSMUSG00000079415
AA Change: W168R

Domain	Start	End	E-Value	Type
Pfam:CNTF	1	194	4.2e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142247

SMART Domains

Protein: ENSMUSP00000124424
Gene: ENSMUSG00000024695

Domain	Start	End	E-Value	Type
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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,550,554 (GRCm39)		probably null	Het
Acsm3	C	A	7: 119,374,457 (GRCm39)	T303N	probably benign	Het
Adamts13	A	T	2: 26,876,603 (GRCm39)	R506W	probably damaging	Het
Adck5	C	T	15: 76,477,785 (GRCm39)	T166M	probably damaging	Het
Adcy8	T	A	15: 64,687,266 (GRCm39)	I413F	probably damaging	Het
Adgrl2	A	T	3: 148,564,811 (GRCm39)	D252E	probably damaging	Het
Aldh16a1	T	A	7: 44,793,969 (GRCm39)	T636S	probably benign	Het
Ampd1	C	A	3: 102,997,391 (GRCm39)	F264L	probably damaging	Het
Arhgap17	T	C	7: 122,885,981 (GRCm39)		probably benign	Het
Babam2	A	G	5: 32,222,151 (GRCm39)		probably benign	Het
Bltp2	C	T	11: 78,164,096 (GRCm39)	Q40*	probably null	Het
Bod1l	T	A	5: 41,977,921 (GRCm39)	E1131V	probably benign	Het
Cbs	C	T	17: 31,832,193 (GRCm39)	V553M	probably damaging	Het
Cd72	T	C	4: 43,454,475 (GRCm39)	K18R	probably damaging	Het
Cep89	A	G	7: 35,128,587 (GRCm39)	Y580C	probably damaging	Het
Chrnb1	T	A	11: 69,683,555 (GRCm39)	I264F	possibly damaging	Het
Cxxc1	T	A	18: 74,354,237 (GRCm39)	D648E	possibly damaging	Het
Cyp2c68	A	T	19: 39,700,936 (GRCm39)	L294Q	probably damaging	Het
Dab2ip	T	C	2: 35,605,414 (GRCm39)	S532P	probably damaging	Het
Defb3	G	A	8: 19,345,200 (GRCm39)	C52Y	probably damaging	Het
Dennd5a	T	G	7: 109,533,428 (GRCm39)	E114A	probably benign	Het
Dnah12	T	C	14: 26,428,039 (GRCm39)	F222L	probably benign	Het
Dock9	A	C	14: 121,905,820 (GRCm39)		probably null	Het
Fras1	A	T	5: 96,793,807 (GRCm39)	H1043L	probably benign	Het
Gamt	C	A	10: 80,095,741 (GRCm39)	R63L	possibly damaging	Het
Gm1527	A	G	3: 28,969,544 (GRCm39)	H298R	probably benign	Het
Gphb5	C	T	12: 75,462,596 (GRCm39)		probably null	Het
Greb1	A	T	12: 16,783,422 (GRCm39)	V104D	possibly damaging	Het
Hck	A	G	2: 152,970,996 (GRCm39)	D86G	probably damaging	Het
Jhy	T	A	9: 40,833,958 (GRCm39)	K321*	probably null	Het
Kcna5	C	T	6: 126,511,699 (GRCm39)	R143H	probably damaging	Het
Kif19a	G	T	11: 114,680,264 (GRCm39)	W867L	possibly damaging	Het
Map3k4	G	A	17: 12,490,303 (GRCm39)	A376V	probably damaging	Het
Mars1	A	T	10: 127,133,914 (GRCm39)	M661K	probably benign	Het
Mecp2	C	T	X: 73,079,043 (GRCm39)	V496M	probably damaging	Het
Mfsd2b	A	T	12: 4,917,651 (GRCm39)	C132S	probably damaging	Het
Mfsd4a	T	C	1: 131,966,666 (GRCm39)	Y356C	probably damaging	Het
Mif4gd	G	T	11: 115,500,188 (GRCm39)	A89E	probably benign	Het
Mkln1	A	T	6: 31,467,482 (GRCm39)	E593D	probably benign	Het
Mlh1	G	T	9: 111,057,563 (GRCm39)	N749K	possibly damaging	Het
Mrgprb2	T	A	7: 48,201,707 (GRCm39)	*339C	probably null	Het
Nphp4	T	C	4: 152,631,536 (GRCm39)	V812A	probably benign	Het
Nrcam	G	T	12: 44,623,554 (GRCm39)	V1048L	probably benign	Het
Obsl1	G	A	1: 75,470,503 (GRCm39)	A856V	probably damaging	Het
Osgepl1	T	A	1: 53,357,326 (GRCm39)	F163I	probably damaging	Het
Pcdha6	C	A	18: 37,102,121 (GRCm39)	T438K	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,286 (GRCm39)	M271L	probably benign	Het
Phip	T	C	9: 82,789,005 (GRCm39)	T770A	probably benign	Het
Ppm1d	A	G	11: 85,217,734 (GRCm39)	T166A	probably damaging	Het
Ptprf	A	T	4: 118,081,932 (GRCm39)	I1102K	probably benign	Het
Sbsn	T	C	7: 30,452,692 (GRCm39)	V569A	possibly damaging	Het
Skida1	T	A	2: 18,050,814 (GRCm39)		probably benign	Het
Smg1	T	A	7: 117,789,809 (GRCm39)		probably benign	Het
Sorcs2	A	G	5: 36,386,535 (GRCm39)	Y168H	probably damaging	Het
Sufu	A	T	19: 46,443,172 (GRCm39)		probably null	Het
Tbc1d24	A	T	17: 24,404,500 (GRCm39)	W215R	probably damaging	Het
Tenm4	T	C	7: 96,552,067 (GRCm39)	L2502P	probably damaging	Het
Tgm4	A	T	9: 122,890,703 (GRCm39)	E10V	probably damaging	Het
Trip11	T	C	12: 101,852,231 (GRCm39)	E611G	probably damaging	Het
Ttn	C	A	2: 76,540,243 (GRCm39)	A34248S	possibly damaging	Het
Ube3a	T	A	7: 58,921,776 (GRCm39)	N49K	probably damaging	Het
Ube3c	A	G	5: 29,863,290 (GRCm39)	D855G	possibly damaging	Het
Ugt8a	A	G	3: 125,669,202 (GRCm39)	S301P	probably benign	Het
Wdfy4	T	A	14: 32,824,534 (GRCm39)	N1295I	possibly damaging	Het
Wdr47	G	T	3: 108,517,328 (GRCm39)	G43C	probably damaging	Het
Wdtc1	A	C	4: 133,021,673 (GRCm39)	L601W	unknown	Het
Zfp236	A	G	18: 82,658,276 (GRCm39)	F614S	possibly damaging	Het
Zfp637	T	A	6: 117,822,047 (GRCm39)	D58E	possibly damaging	Het

Other mutations in Cntf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6992:Cntf	UTSW	19	12,742,697 (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'- CACAGCCAGAATAACCATGTTTATC -3'
(R):5'- AGAGAGTGCATTTCACCCCG -3'

Sequencing Primer
(F):5'- CCTACTTGACGAAATATGCCTGTGG -3'
(R):5'- ATTTCACCCCGACTGAAGGTG -3'

Posted On

2017-02-15