Mutagenetix > Incidental Mutation

Incidental Mutation 'R7006:Cep72'

544735

Institutional Source

Beutler Lab

Gene Symbol

Cep72

Ensembl Gene

ENSMUSG00000021572

Gene Name

centrosomal protein 72

Synonyms

2610029E11Rik, 4933440J22Rik

MMRRC Submission

045011-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74184619-74210418 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 74198427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 311 (Q311*)

Ref Sequence

ENSEMBL: ENSMUSP00000152641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036456] [ENSMUST00000220483] [ENSMUST00000221122] [ENSMUST00000222609]

AlphaFold

Q9D3R3

Predicted Effect

probably null
Transcript: ENSMUST00000036456
AA Change: Q318*

SMART Domains

Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: Q318*

Domain	Start	End	E-Value	Type
LRR	52	73	2.92e1	SMART
LRR	74	96	5.34e-1	SMART
LRRcap	116	134	1.89e-4	SMART
low complexity region	307	319	N/A	INTRINSIC
low complexity region	378	389	N/A	INTRINSIC
low complexity region	417	428	N/A	INTRINSIC
coiled coil region	485	531	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220483

Predicted Effect

probably null
Transcript: ENSMUST00000221122
AA Change: Q47*

Predicted Effect

probably null
Transcript: ENSMUST00000222609
AA Change: Q311*

Predicted Effect

probably benign
Transcript: ENSMUST00000223028

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	G	4: 144,447,853 (GRCm39)	V41A	probably benign	Het
Adcy2	G	A	13: 69,036,139 (GRCm39)	T174M	probably damaging	Het
Ankfy1	T	A	11: 72,631,290 (GRCm39)	I412N	probably benign	Het
AW146154	T	C	7: 41,130,648 (GRCm39)	E156G	possibly damaging	Het
B4galnt1	T	C	10: 127,005,700 (GRCm39)	L267P	probably benign	Het
Bod1l	T	C	5: 41,989,895 (GRCm39)	E276G	probably damaging	Het
Ccdc187	T	C	2: 26,171,102 (GRCm39)	T459A	probably benign	Het
Ccdc196	T	A	12: 78,255,702 (GRCm39)	*177R	probably null	Het
Cir1	T	C	2: 73,140,834 (GRCm39)	Q45R	probably damaging	Het
Ciz1	T	C	2: 32,261,127 (GRCm39)		probably null	Het
Crtap	G	T	9: 114,215,391 (GRCm39)	A166E	probably damaging	Het
Dipk1a	A	G	5: 108,058,027 (GRCm39)	V132A	probably benign	Het
Dmp1	A	G	5: 104,360,188 (GRCm39)	D288G	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmnl2	C	A	2: 52,998,266 (GRCm39)	Q544K	probably benign	Het
Gpsm1	T	C	2: 26,212,572 (GRCm39)	L72P	probably damaging	Het
Gys1	G	A	7: 45,089,437 (GRCm39)	A199T	probably damaging	Het
Kcnq3	A	C	15: 65,892,165 (GRCm39)	Y403*	probably null	Het
Kcp	A	C	6: 29,499,169 (GRCm39)	Y298D	probably damaging	Het
Kif5c	T	C	2: 49,625,526 (GRCm39)	S599P	probably damaging	Het
Krt20	A	T	11: 99,328,587 (GRCm39)	Y113N	probably benign	Het
Mcm8	T	G	2: 132,665,181 (GRCm39)	V191G	probably damaging	Het
Msr1	T	A	8: 40,042,423 (GRCm39)	D384V	probably damaging	Het
Mtpap	A	C	18: 4,380,873 (GRCm39)	S184R	possibly damaging	Het
Npc1l1	G	A	11: 6,167,731 (GRCm39)	T1020M	probably benign	Het
Nphp4	A	G	4: 152,573,259 (GRCm39)	T66A	probably benign	Het
Or1o3	T	A	17: 37,573,625 (GRCm39)	*310L	probably null	Het
Or4f14	C	A	2: 111,742,601 (GRCm39)	V225L	probably benign	Het
Or8h10	G	A	2: 86,808,303 (GRCm39)	T279I	probably damaging	Het
Or8k18	T	A	2: 86,085,572 (GRCm39)	Q155L	probably benign	Het
Phf11d	G	T	14: 59,590,823 (GRCm39)	T178K	probably benign	Het
Ppm1d	A	G	11: 85,227,977 (GRCm39)	K298E	possibly damaging	Het
Rab2b	A	T	14: 52,503,690 (GRCm39)	I144K	probably benign	Het
Stoml1	A	G	9: 58,167,523 (GRCm39)	D5G	probably damaging	Het
Styxl2	T	C	1: 165,926,663 (GRCm39)	N983S	probably benign	Het
Tanc1	T	C	2: 59,626,188 (GRCm39)	V515A	probably damaging	Het
Tas1r3	A	G	4: 155,947,361 (GRCm39)	V108A	possibly damaging	Het
Tifab	T	C	13: 56,324,059 (GRCm39)	Y128C	probably benign	Het
Tmc6	G	T	11: 117,665,083 (GRCm39)	R397S	probably damaging	Het
Tnpo3	C	T	6: 29,589,162 (GRCm39)	A63T	probably damaging	Het
Trgc4	T	A	13: 19,528,995 (GRCm39)		probably benign	Het
Usp16	G	T	16: 87,268,724 (GRCm39)	C284F	probably damaging	Het
Wipf1	T	C	2: 73,267,441 (GRCm39)	D319G	probably damaging	Het
Xpnpep3	T	A	15: 81,326,649 (GRCm39)	W347R	probably damaging	Het
Zfp180	G	T	7: 23,804,537 (GRCm39)	E319*	probably null	Het

Other mutations in Cep72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Cep72	APN	13	74,210,387 (GRCm39)	unclassified	probably benign
IGL01373:Cep72	APN	13	74,207,578 (GRCm39)	missense	probably damaging	1.00
IGL02415:Cep72	APN	13	74,198,273 (GRCm39)	missense	probably benign	0.31
IGL03372:Cep72	APN	13	74,191,637 (GRCm39)	missense	possibly damaging	0.47
R0608:Cep72	UTSW	13	74,186,423 (GRCm39)	missense	probably damaging	1.00
R0884:Cep72	UTSW	13	74,203,000 (GRCm39)	critical splice donor site	probably null
R2400:Cep72	UTSW	13	74,197,096 (GRCm39)	missense	probably damaging	0.99
R4906:Cep72	UTSW	13	74,207,584 (GRCm39)	missense	probably damaging	1.00
R5534:Cep72	UTSW	13	74,210,335 (GRCm39)	missense	probably benign	0.05
R5567:Cep72	UTSW	13	74,188,260 (GRCm39)	missense	probably benign	0.00
R5570:Cep72	UTSW	13	74,188,260 (GRCm39)	missense	probably benign	0.00
R5816:Cep72	UTSW	13	74,197,150 (GRCm39)	missense	probably benign	0.43
R6310:Cep72	UTSW	13	74,201,144 (GRCm39)	missense	possibly damaging	0.94
R6513:Cep72	UTSW	13	74,206,582 (GRCm39)	missense	probably damaging	1.00
R6848:Cep72	UTSW	13	74,186,395 (GRCm39)	missense	possibly damaging	0.85
R6936:Cep72	UTSW	13	74,188,206 (GRCm39)	missense	probably damaging	1.00
R7000:Cep72	UTSW	13	74,206,444 (GRCm39)	missense	probably damaging	0.96
R7074:Cep72	UTSW	13	74,199,699 (GRCm39)	missense	probably benign	0.16
R7640:Cep72	UTSW	13	74,206,607 (GRCm39)	nonsense	probably null
R7889:Cep72	UTSW	13	74,198,241 (GRCm39)	missense	possibly damaging	0.84
R8260:Cep72	UTSW	13	74,206,465 (GRCm39)	missense	probably damaging	1.00
R8751:Cep72	UTSW	13	74,198,303 (GRCm39)	missense	possibly damaging	0.60
R8789:Cep72	UTSW	13	74,186,367 (GRCm39)	missense	possibly damaging	0.83
R9202:Cep72	UTSW	13	74,198,420 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCCAAAGCCTCAGAGTGAG -3'
(R):5'- TCTGTCCATACCCACGTGTG -3'

Sequencing Primer
(F):5'- GAGACAAGGCCACCTGACTCTG -3'
(R):5'- ATACCCACGTGTGTGCTCAC -3'

Posted On

2019-05-13