Mutagenetix > Incidental Mutation

Incidental Mutation 'R7299:Cnot7'

566867

Institutional Source

Beutler Lab

Gene Symbol

Cnot7

Ensembl Gene

ENSMUSG00000031601

Gene Name

CCR4-NOT transcription complex, subunit 7

Synonyms

Caf1

MMRRC Submission

045403-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R7299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40945581-40968888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40960586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 74 (I74T)

Ref Sequence

ENSEMBL: ENSMUSP00000034012 (fasta)

Gene Model

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

AlphaFold

Q60809

Predicted Effect

probably damaging
Transcript: ENSMUST00000034012
AA Change: I74T

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

SMART Domains

Protein: ENSMUSP00000034012
Gene: ENSMUSG00000031601
AA Change: I74T

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 damaging
Transcript: ENSMUST00000132032
AA Change: I74T

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

SMART Domains

Protein: ENSMUSP00000122933
Gene: ENSMUSG00000031601
AA Change: I74T

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 damaging
Transcript: ENSMUST00000135269
AA Change: I74T

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

SMART Domains

Protein: ENSMUSP00000119319
Gene: ENSMUSG00000031601
AA Change: I74T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149992
AA Change: I74T

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

SMART Domains

Protein: ENSMUSP00000117304
Gene: ENSMUSG00000031601
AA Change: I74T

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

Meta Mutation Damage Score

0.9135

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

99% (71/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Abca13	A	T	11: 9,244,649 (GRCm39)	N2171Y	probably damaging	Het
Abcc8	G	A	7: 45,754,922 (GRCm39)	T1532I	possibly damaging	Het
Abtb2	A	T	2: 103,532,769 (GRCm39)		probably null	Het
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Akap9	C	A	5: 4,082,696 (GRCm39)	T1940K	probably damaging	Het
Ccdc8	A	G	7: 16,729,956 (GRCm39)	T482A	unknown	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cenpt	G	A	8: 106,576,536 (GRCm39)	Q45*	probably null	Het
Cnga1	T	C	5: 72,762,775 (GRCm39)	I246M	probably benign	Het
Cog6	T	C	3: 52,909,928 (GRCm39)	S275G	probably benign	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Ergic2	T	A	6: 148,089,610 (GRCm39)	Y249F	probably damaging	Het
Exoc1	T	A	5: 76,690,006 (GRCm39)	M182K	probably damaging	Het
Fhdc1	T	C	3: 84,351,847 (GRCm39)	E1126G	probably damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gap43	T	C	16: 42,112,615 (GRCm39)	K49E	probably damaging	Het
Gata4	T	A	14: 63,441,191 (GRCm39)	T276S	probably damaging	Het
Gca	C	T	2: 62,520,320 (GRCm39)	P160L	probably benign	Het
Ghdc	C	T	11: 100,658,942 (GRCm39)	V397I	possibly damaging	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gtf3c3	G	A	1: 54,456,867 (GRCm39)	P511L	probably benign	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Itgb8	T	C	12: 119,166,196 (GRCm39)	N112D	probably benign	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Krtap26-1	T	C	16: 88,444,132 (GRCm39)	Y163C	possibly damaging	Het
Kyat1	T	C	2: 30,082,007 (GRCm39)	D44G	probably benign	Het
Mob1a	G	A	6: 83,315,431 (GRCm39)		probably null	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Nhsl1	A	G	10: 18,403,419 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Odad2	T	C	18: 7,222,635 (GRCm39)	K545E	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or1s2	G	A	19: 13,758,688 (GRCm39)	W235*	probably null	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Ptpro	G	A	6: 137,418,142 (GRCm39)		probably null	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Ralgps1	T	C	2: 33,047,885 (GRCm39)	K365R	probably benign	Het
Reep1	A	T	6: 71,738,373 (GRCm39)	I44L	probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmem263	T	A	10: 84,950,261 (GRCm39)		probably null	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Tnrc6a	A	C	7: 122,770,136 (GRCm39)	N642T	probably benign	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Trak1	A	G	9: 121,280,929 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,225,048 (GRCm39)	I799T	possibly damaging	Het
Ttc7	T	C	17: 87,653,970 (GRCm39)	I549T	possibly damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Wrn	A	G	8: 33,782,746 (GRCm39)	F728S	probably damaging	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfp418	T	A	7: 7,185,827 (GRCm39)	C597S	possibly damaging	Het
Zfp568	A	G	7: 29,716,669 (GRCm39)	T190A	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	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
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
R9251:Cnot7	UTSW	8	40,964,622 (GRCm39)	unclassified	probably benign
Z1088:Cnot7	UTSW	8	40,953,780 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGCCTCGTAATAATAAGCCTAAAC -3'
(R):5'- TCTGATAGGTAATGCTGTTCATGC -3'

Sequencing Primer
(F):5'- ACATTTCCAGGGACACTG -3'
(R):5'- TAAGCATTGAGTGTGAACATACAG -3'

Posted On

2019-06-26