Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01474:Cnot7'

88405

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnot7

Ensembl Gene

ENSMUSG00000031601

Gene Name

CCR4-NOT transcription complex, subunit 7

Synonyms

Caf1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.601) question?

Stock #

IGL01474

Quality Score

Status

Chromosome

Chromosomal Location

40492540-40515847 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 40507449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034012] [ENSMUST00000098817] [ENSMUST00000128166] [ENSMUST00000132032] [ENSMUST00000135269] [ENSMUST00000149992]

AlphaFold

Q60809

Predicted Effect

probably null
Transcript: ENSMUST00000034012

SMART Domains

Protein: ENSMUSP00000034012
Gene: ENSMUSG00000031601

Domain	Start	End	E-Value	Type
Pfam:CAF1	15	139	9.1e-15	PFAM
Pfam:CAF1	132	238	1.2e-14	PFAM
low complexity region	259	268	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098817

SMART Domains

Protein: ENSMUSP00000096415
Gene: ENSMUSG00000031600

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Blast:UBCc	29	128	6e-6	BLAST
low complexity region	155	164	N/A	INTRINSIC
low complexity region	171	189	N/A	INTRINSIC
Pfam:Mod_r	235	380	2.7e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128166

SMART Domains

Protein: ENSMUSP00000123070
Gene: ENSMUSG00000039470

Domain	Start	End	E-Value	Type
transmembrane domain	16	38	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:zf-DHHC	122	248	1.8e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128237

Predicted Effect

probably null
Transcript: ENSMUST00000132032

SMART Domains

Protein: ENSMUSP00000122933
Gene: ENSMUSG00000031601

Domain	Start	End	E-Value	Type
Pfam:CAF1	13	240	3.4e-73	PFAM
low complexity region	259	268	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132740

Predicted Effect

probably null
Transcript: ENSMUST00000135269

SMART Domains

Protein: ENSMUSP00000119319
Gene: ENSMUSG00000031601

Domain	Start	End	E-Value	Type
Pfam:CAF1	13	245	7e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146280

Predicted Effect

probably null
Transcript: ENSMUST00000149992

SMART Domains

Protein: ENSMUSP00000117304
Gene: ENSMUSG00000031601

Domain	Start	End	E-Value	Type
Pfam:CAF1	13	240	3.4e-73	PFAM
low complexity region	259	268	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164934

Coding Region Coverage

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 binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The encoded protein downregulates the innate immune response and therefore provides a therapeutic target for enhancing its antimicrobial activity against foreign agents. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null mice display male sterility with oligo-teratozoospermia, impaired sperm motility, unsynchronized spermatid maturation, and Sertoli cell abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	T	13: 91,772,783	K336I	possibly damaging	Het
Acsbg2	A	G	17: 56,861,621	I166T	possibly damaging	Het
Bpifc	T	A	10: 86,000,639	M1L	probably damaging	Het
Ccnb2	T	A	9: 70,419,023	N44I	probably benign	Het
Cdc73	C	T	1: 143,671,332	V276M	probably benign	Het
Col11a1	T	A	3: 114,217,134		probably benign	Het
Coro1c	T	C	5: 113,882,155		probably benign	Het
Crocc	A	G	4: 141,035,392		probably benign	Het
Dync2h1	A	T	9: 7,102,493	Y396N	probably benign	Het
Gm2888	T	A	14: 3,032,041	D116E	probably damaging	Het
Gm29326	A	T	7: 29,562,589		noncoding transcript	Het
Gm9774	G	T	3: 92,428,343	Q351K	probably damaging	Het
Greb1	A	G	12: 16,684,501	V1496A	probably benign	Het
Hdac7	A	G	15: 97,797,939		probably null	Het
Hectd4	A	G	5: 121,336,649	T2778A	possibly damaging	Het
Hist2h2bb	A	G	3: 96,269,809		probably benign	Het
Hivep2	A	T	10: 14,143,662	H2059L	probably damaging	Het
Ift88	A	T	14: 57,478,074	I525F	probably benign	Het
Itga5	G	A	15: 103,354,270	Q324*	probably null	Het
Klhl14	T	G	18: 21,557,854	H513P	probably damaging	Het
Lama5	A	T	2: 180,196,570	D837E	probably damaging	Het
Mrvi1	A	T	7: 110,871,433	S898T	possibly damaging	Het
Muc6	C	A	7: 141,651,307	C215F	probably damaging	Het
Myh15	A	G	16: 49,132,098	K844E	probably damaging	Het
Neb	A	G	2: 52,328,905	V31A	unknown	Het
Nipbl	A	G	15: 8,311,209	I2009T	possibly damaging	Het
Olfr700	A	G	7: 106,805,940	I174T	probably benign	Het
Piwil2	T	C	14: 70,398,218	R536G	probably benign	Het
Pld3	A	G	7: 27,532,619	V412A	probably damaging	Het
Prkaa2	A	C	4: 105,049,332		probably null	Het
Rdh9	T	C	10: 127,790,945	L289P	probably damaging	Het
Rusc2	C	T	4: 43,416,434	S580L	probably damaging	Het
Sidt2	A	G	9: 45,946,982		probably null	Het
Slc18b1	A	T	10: 23,803,850	K92N	probably benign	Het
Slc20a2	G	A	8: 22,535,557	V92M	possibly damaging	Het
Slc4a11	A	T	2: 130,685,544	F644I	probably damaging	Het
Spata31d1d	A	T	13: 59,730,215		probably benign	Het
Spef2	T	C	15: 9,663,158	M846V	probably benign	Het
Syncrip	T	C	9: 88,480,747	T3A	probably benign	Het

Other mutations in Cnot7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02022:Cnot7	APN	8	40499345	missense	probably damaging	1.00
IGL02191:Cnot7	APN	8	40510027	missense	probably benign	0.33
R0047:Cnot7	UTSW	8	40495921	splice site	probably benign
R0047:Cnot7	UTSW	8	40495921	splice site	probably benign
R0166:Cnot7	UTSW	8	40507453	critical splice donor site	probably null
R3884:Cnot7	UTSW	8	40510130	start codon destroyed	probably null	0.01
R5369:Cnot7	UTSW	8	40494020	missense	probably benign	0.12
R5991:Cnot7	UTSW	8	40495655	splice site	probably null
R6101:Cnot7	UTSW	8	40510037	missense	probably benign
R6105:Cnot7	UTSW	8	40510037	missense	probably benign
R7299:Cnot7	UTSW	8	40507545	missense	probably damaging	1.00
R7548:Cnot7	UTSW	8	40500833	missense	probably damaging	1.00
R7639:Cnot7	UTSW	8	40507453	critical splice donor site	probably null
R7712:Cnot7	UTSW	8	40494081	missense	probably damaging	1.00
R8069:Cnot7	UTSW	8	40507473	missense	possibly damaging	0.95
R8128:Cnot7	UTSW	8	40510088	missense	probably damaging	1.00
R8757:Cnot7	UTSW	8	40494039	missense	probably benign
R9251:Cnot7	UTSW	8	40511581	unclassified	probably benign
Z1088:Cnot7	UTSW	8	40500739	critical splice donor site	probably benign

Posted On

2013-11-18