Mutagenetix > Incidental Mutation

Incidental Mutation 'R5148:Cntf'

395225

Institutional Source

Beutler Lab

Gene Symbol

Cntf

Ensembl Gene

ENSMUSG00000079415

Gene Name

ciliary neurotrophic factor

Synonyms

MMRRC Submission

043262-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5148 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12741024-12742996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12741368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 164 (E164G)

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: E164G

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

SMART Domains

Protein: ENSMUSP00000108555
Gene: ENSMUSG00000079415
AA Change: E164G

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

Meta Mutation Damage Score

0.3310

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (48/48)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	A	T	3: 126,819,285 (GRCm39)		probably null	Het
Atf7	A	G	15: 102,455,608 (GRCm39)	M252T	probably benign	Het
Cacna1h	C	A	17: 25,606,519 (GRCm39)	D1027Y	probably damaging	Het
Cngb1	A	G	8: 95,992,611 (GRCm39)	V667A	probably benign	Het
Dbt	T	C	3: 116,321,893 (GRCm39)		probably benign	Het
Egfem1	G	A	3: 29,511,972 (GRCm39)		probably benign	Het
Gm12790	C	T	4: 101,825,268 (GRCm39)	V49I	possibly damaging	Het
Gm5444	C	T	13: 4,884,314 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	T	2: 132,376,110 (GRCm39)	Y574*	probably null	Het
Gss	G	T	2: 155,415,029 (GRCm39)	N225K	possibly damaging	Het
Il17rc	G	T	6: 113,459,958 (GRCm39)	A635S	probably benign	Het
Lhfpl5	T	A	17: 28,798,942 (GRCm39)	D150E	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrrc40	T	G	3: 157,760,206 (GRCm39)		probably null	Het
Ly6f	A	G	15: 75,143,646 (GRCm39)	T118A	probably benign	Het
Malrd1	A	G	2: 16,147,037 (GRCm39)	N1960D	unknown	Het
Map3k14	T	C	11: 103,130,158 (GRCm39)	H253R	probably benign	Het
Morc2a	T	C	11: 3,639,084 (GRCm39)	L1025P	probably damaging	Het
Nlrc5	G	T	8: 95,203,321 (GRCm39)	G474W	probably damaging	Het
Olr1	G	T	6: 129,470,572 (GRCm39)	D198E	probably benign	Het
Or5b123	C	A	19: 13,596,874 (GRCm39)	S116*	probably null	Het
Or5d14	G	A	2: 87,880,737 (GRCm39)	T77I	probably benign	Het
Or8c16	T	C	9: 38,130,317 (GRCm39)	I66T	probably benign	Het
Pafah1b1	A	T	11: 74,575,278 (GRCm39)	S209T	probably damaging	Het
Phf14	A	T	6: 11,961,641 (GRCm39)	Y426F	possibly damaging	Het
Phldb1	A	G	9: 44,615,455 (GRCm39)	V855A	probably benign	Het
Pira2	T	G	7: 3,847,592 (GRCm39)	R32S	possibly damaging	Het
Pnldc1	T	C	17: 13,111,676 (GRCm39)	I344V	probably benign	Het
Prss29	T	C	17: 25,539,881 (GRCm39)	V93A	probably benign	Het
Ptpn13	C	T	5: 103,640,098 (GRCm39)	L186F	probably damaging	Het
Ralgps1	A	C	2: 33,048,999 (GRCm39)	C303W	probably damaging	Het
Sdr42e1	T	A	8: 118,390,342 (GRCm39)	N100Y	probably damaging	Het
Serpina11	A	T	12: 103,952,503 (GRCm39)	L96Q	probably damaging	Het
Slc12a8	G	A	16: 33,445,288 (GRCm39)	R448H	probably benign	Het
Snrpd1	T	A	18: 10,626,892 (GRCm39)	V53E	probably benign	Het
Ssbp1	T	C	6: 40,454,883 (GRCm39)	V114A	possibly damaging	Het
T	A	G	17: 8,655,037 (GRCm39)	E47G	probably damaging	Het
Tmem156	T	C	5: 65,231,111 (GRCm39)	K189R	probably benign	Het
Trim47	G	T	11: 115,998,678 (GRCm39)	Q314K	possibly damaging	Het
Vmn2r3	G	T	3: 64,186,247 (GRCm39)	P146Q	probably damaging	Het
Vmn2r6	A	C	3: 64,464,015 (GRCm39)	V273G	probably damaging	Het
Wrnip1	G	T	13: 32,990,839 (GRCm39)	R366L	probably damaging	Het
Zfp981	A	T	4: 146,621,357 (GRCm39)	H94L	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
R5890:Cntf	UTSW	19	12,741,357 (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'- TTTCACCCCGACTGAAGGTG -3'

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

Posted On

2016-06-21