Mutagenetix > Incidental Mutation

Incidental Mutation 'R9251:Cnot7'

701551

Institutional Source

Beutler Lab

Gene Symbol

Cnot7

Ensembl Gene

ENSMUSG00000031601

Gene Name

CCR4-NOT transcription complex, subunit 7

Synonyms

Caf1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R9251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40945581-40968888 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 40964622 bp (GRCm39)

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 benign
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

probably benign
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

probably benign
Transcript: ENSMUST00000135269

SMART Domains

Protein: ENSMUSP00000119319
Gene: ENSMUSG00000031601

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

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	G	T	16: 38,423,218 (GRCm39)	N949K	probably benign	Het
Arv1	T	A	8: 125,452,062 (GRCm39)	I76N	probably damaging	Het
Cfap44	G	A	16: 44,229,276 (GRCm39)	A189T	probably damaging	Het
Ch25h	T	C	19: 34,451,769 (GRCm39)	Y253C	probably damaging	Het
Cnot11	T	C	1: 39,581,587 (GRCm39)	M376T	probably damaging	Het
Dnah17	G	A	11: 118,012,618 (GRCm39)	S481F	probably benign	Het
Dnah2	C	T	11: 69,406,619 (GRCm39)	R541Q	probably damaging	Het
Dnah7a	C	T	1: 53,621,671 (GRCm39)	M1151I	probably damaging	Het
Dpf2	T	C	19: 5,957,166 (GRCm39)	D19G	probably damaging	Het
Eefsec	A	T	6: 88,332,574 (GRCm39)	M212K	probably damaging	Het
Elp6	G	A	9: 110,134,666 (GRCm39)	V12I	unknown	Het
Enox1	G	A	14: 77,852,997 (GRCm39)		probably null	Het
Epha1	G	T	6: 42,341,777 (GRCm39)	N424K	probably damaging	Het
Fam171a1	T	C	2: 3,226,525 (GRCm39)	S553P	probably benign	Het
Fbxw21	A	G	9: 108,974,687 (GRCm39)	S278P	probably damaging	Het
Gm45861	T	C	8: 28,032,589 (GRCm39)		probably null	Het
Gm4846	T	A	1: 166,311,307 (GRCm39)	R517S	probably benign	Het
Gnrhr	A	G	5: 86,345,221 (GRCm39)	L155P	possibly damaging	Het
Igfn1	C	T	1: 135,894,409 (GRCm39)		probably benign	Het
Ik	T	A	18: 36,880,495 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,717,391 (GRCm39)	Q763L	probably benign	Het
Klf5	G	T	14: 99,538,824 (GRCm39)	C79F	possibly damaging	Het
Lrrcc1	A	T	3: 14,623,454 (GRCm39)	R760S	probably damaging	Het
Map3k7	T	A	4: 32,002,080 (GRCm39)		probably benign	Het
Mapkbp1	C	T	2: 119,853,671 (GRCm39)	A1159V	probably benign	Het
Mgst3	C	T	1: 167,205,860 (GRCm39)		probably null	Het
Mtch2	T	A	2: 90,679,980 (GRCm39)	F71I	probably damaging	Het
Myo1e	A	G	9: 70,276,076 (GRCm39)	I764V	probably benign	Het
Myo3b	T	A	2: 70,088,425 (GRCm39)	L896*	probably null	Het
Ndufs5	T	G	4: 123,606,628 (GRCm39)	E103A	probably benign	Het
Nfe2l1	G	A	11: 96,710,421 (GRCm39)	P603S	probably damaging	Het
Or6c211	T	A	10: 129,505,980 (GRCm39)	N136I	possibly damaging	Het
Or8g34	A	T	9: 39,373,668 (GRCm39)	M311L	probably benign	Het
Piezo1	T	C	8: 123,219,354 (GRCm39)	N1093S		Het
Pitpnb	G	A	5: 111,533,390 (GRCm39)	R258H	probably benign	Het
Pla2g4d	T	C	2: 120,099,378 (GRCm39)	E708G	possibly damaging	Het
Plppr4	T	A	3: 117,115,608 (GRCm39)	T750S	probably benign	Het
Prrg4	T	G	2: 104,675,399 (GRCm39)	E68A	probably damaging	Het
Rcan2	C	T	17: 44,328,701 (GRCm39)	T90M	possibly damaging	Het
Rlbp1	T	C	7: 79,027,093 (GRCm39)	E189G	probably damaging	Het
Satb1	A	G	17: 52,112,293 (GRCm39)	F107S	probably damaging	Het
Sdc3	A	T	4: 130,548,513 (GRCm39)		probably benign	Het
Slc22a3	A	T	17: 12,726,093 (GRCm39)	V40D	probably damaging	Het
Slc35d1	A	G	4: 103,048,027 (GRCm39)		probably null	Het
Slfn1	T	C	11: 83,012,121 (GRCm39)	F79S	probably damaging	Het
Snrpg	G	T	6: 86,353,557 (GRCm39)	V46L	probably benign	Het
Tbl1xr1	G	A	3: 22,264,569 (GRCm39)	C508Y	probably benign	Het
Thada	A	T	17: 84,538,564 (GRCm39)	D1481E	probably benign	Het
Tnfsf8	A	G	4: 63,779,217 (GRCm39)	V27A	probably benign	Het
Tns1	T	C	1: 74,030,855 (GRCm39)	H300R	probably damaging	Het
Ttc13	C	A	8: 125,401,992 (GRCm39)	G589V	probably benign	Het
Ttc28	A	G	5: 111,040,698 (GRCm39)	I29V	possibly damaging	Het
Tubb4a	T	A	17: 57,387,778 (GRCm39)	N416I	possibly damaging	Het
Ubr4	T	A	4: 139,177,636 (GRCm39)	I1884N		Het
Usp16	A	G	16: 87,266,640 (GRCm39)	K175E	probably benign	Het
Usp24	A	G	4: 106,217,715 (GRCm39)	I479M	probably benign	Het
Utrn	T	C	10: 12,512,531 (GRCm39)	T2313A	probably benign	Het
Ythdc2	T	C	18: 44,974,442 (GRCm39)	V368A	probably benign	Het
Zfp628	T	C	7: 4,923,880 (GRCm39)	S701P	probably damaging	Het

Other mutations in Cnot7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Cnot7	APN	8	40,960,490 (GRCm39)	splice site	probably null
IGL02022:Cnot7	APN	8	40,952,386 (GRCm39)	missense	probably damaging	1.00
IGL02191:Cnot7	APN	8	40,963,068 (GRCm39)	missense	probably benign	0.33
R0047:Cnot7	UTSW	8	40,948,962 (GRCm39)	splice site	probably benign
R0047:Cnot7	UTSW	8	40,948,962 (GRCm39)	splice site	probably benign
R0166:Cnot7	UTSW	8	40,960,494 (GRCm39)	critical splice donor site	probably null
R3884:Cnot7	UTSW	8	40,963,171 (GRCm39)	start codon destroyed	probably null	0.01
R5369:Cnot7	UTSW	8	40,947,061 (GRCm39)	missense	probably benign	0.12
R5991:Cnot7	UTSW	8	40,948,696 (GRCm39)	splice site	probably null
R6101:Cnot7	UTSW	8	40,963,078 (GRCm39)	missense	probably benign
R6105:Cnot7	UTSW	8	40,963,078 (GRCm39)	missense	probably benign
R7299:Cnot7	UTSW	8	40,960,586 (GRCm39)	missense	probably damaging	1.00
R7548:Cnot7	UTSW	8	40,953,874 (GRCm39)	missense	probably damaging	1.00
R7639:Cnot7	UTSW	8	40,960,494 (GRCm39)	critical splice donor site	probably null
R7712:Cnot7	UTSW	8	40,947,122 (GRCm39)	missense	probably damaging	1.00
R8069:Cnot7	UTSW	8	40,960,514 (GRCm39)	missense	possibly damaging	0.95
R8128:Cnot7	UTSW	8	40,963,129 (GRCm39)	missense	probably damaging	1.00
R8757:Cnot7	UTSW	8	40,947,080 (GRCm39)	missense	probably benign
Z1088:Cnot7	UTSW	8	40,953,780 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- CGAAGTCCCAGGTACAAAGC -3'
(R):5'- TCAGTTAGCTAGGCCTGGTC -3'

Sequencing Primer
(F):5'- TACAAAGCGGTGGCGTCATC -3'
(R):5'- GCTCAGCTGCTCCAACG -3'

Posted On

2022-03-25