Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Cep72'

54432

Institutional Source

Beutler Lab

Gene Symbol

Cep72

Ensembl Gene

ENSMUSG00000021572

Gene Name

centrosomal protein 72

Synonyms

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74036500-74062299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74038304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 249 (H249Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022057] [ENSMUST00000036456] [ENSMUST00000221122] [ENSMUST00000222609]

AlphaFold

Q9D3R3

Predicted Effect

probably benign
Transcript: ENSMUST00000022057

SMART Domains

Protein: ENSMUSP00000022057
Gene: ENSMUSG00000021573

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
Pfam:p25-alpha	51	212	3.7e-73	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000036456
AA Change: H600Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: H600Q

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

noncoding transcript
Transcript: ENSMUST00000123939

Predicted Effect

probably damaging
Transcript: ENSMUST00000221122
AA Change: H249Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222609

Predicted Effect

probably benign
Transcript: ENSMUST00000223028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223417

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459 (GRCm38)		probably null	Het
Akap11	A	G	14: 78,510,753 (GRCm38)	V1398A	probably benign	Het
Ampd3	T	A	7: 110,795,791 (GRCm38)	F316I	probably damaging	Het
Ampd3	C	A	7: 110,795,790 (GRCm38)	D315E	probably damaging	Het
Arhgef40	A	C	14: 51,996,974 (GRCm38)	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,501,416 (GRCm38)		probably null	Het
BC117090	T	C	16: 36,323,024 (GRCm38)		probably null	Het
Bckdhb	T	G	9: 83,953,736 (GRCm38)	F98V	probably damaging	Het
Calhm1	C	T	19: 47,143,841 (GRCm38)	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,224,951 (GRCm38)	R90C	probably damaging	Het
Cdc40	A	T	10: 40,848,052 (GRCm38)	Y247N	probably benign	Het
Cds1	G	A	5: 101,814,433 (GRCm38)	V305M	probably damaging	Het
Cep128	T	G	12: 90,999,535 (GRCm38)		probably benign	Het
Cfap70	A	T	14: 20,448,563 (GRCm38)	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,218,715 (GRCm38)		probably benign	Het
Cysltr1	A	G	X: 106,578,655 (GRCm38)	V75A	possibly damaging	Het
Dnah17	G	T	11: 118,090,749 (GRCm38)	Y1716*	probably null	Het
Dnm1	T	C	2: 32,335,824 (GRCm38)	E383G	possibly damaging	Het
Dst	C	A	1: 34,290,356 (GRCm38)		probably null	Het
Edil3	T	C	13: 89,184,849 (GRCm38)	S375P	probably damaging	Het
Eme1	A	G	11: 94,650,082 (GRCm38)	C277R	probably damaging	Het
Enam	T	C	5: 88,493,027 (GRCm38)	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,536,753 (GRCm38)	V341M	probably benign	Het
Fgf14	A	G	14: 124,676,603 (GRCm38)	S39P	probably damaging	Het
Fmo4	C	T	1: 162,803,651 (GRCm38)	R249H	possibly damaging	Het
Gle1	T	A	2: 29,940,228 (GRCm38)	D265E	probably benign	Het
Gml2	T	C	15: 74,821,386 (GRCm38)		probably null	Het
Golgb1	G	T	16: 36,916,330 (GRCm38)	E1980*	probably null	Het
Hap1	A	G	11: 100,349,305 (GRCm38)	L555P	probably damaging	Het
Heca	T	C	10: 17,915,291 (GRCm38)	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479 (GRCm38)	T101A	possibly damaging	Het
Ift88	T	C	14: 57,496,221 (GRCm38)	V707A	probably benign	Het
Kdm3a	C	T	6: 71,620,046 (GRCm38)	G252D	probably benign	Het
Klhl11	A	G	11: 100,472,242 (GRCm38)	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,786,074 (GRCm38)	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,486,243 (GRCm38)	N2131K	probably benign	Het
Lrrc6	T	A	15: 66,380,474 (GRCm38)	M448L	probably benign	Het
Magi3	C	G	3: 104,017,557 (GRCm38)	G1092A	probably damaging	Het
Mef2a	G	T	7: 67,235,148 (GRCm38)	S406*	probably null	Het
Mrps26	G	T	2: 130,563,858 (GRCm38)	R27L	possibly damaging	Het
Myof	T	C	19: 37,916,504 (GRCm38)	D1624G	probably damaging	Het
Naif1	T	C	2: 32,454,896 (GRCm38)	M204T	probably benign	Het
Ndufb8	T	C	19: 44,550,345 (GRCm38)	E179G	possibly damaging	Het
Neb	A	T	2: 52,326,757 (GRCm38)	D135E	probably benign	Het
Nlrp6	C	T	7: 140,923,486 (GRCm38)	Q502*	probably null	Het
Nploc4	A	G	11: 120,413,681 (GRCm38)	L238P	probably damaging	Het
Olfr463	G	A	11: 87,893,196 (GRCm38)	H243Y	probably damaging	Het
Parp4	T	A	14: 56,602,404 (GRCm38)	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,163,777 (GRCm38)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733 (GRCm38)	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196 (GRCm38)	Y328*	probably null	Het
Pnpla8	C	T	12: 44,283,463 (GRCm38)	P48L	probably benign	Het
Rab44	T	A	17: 29,147,343 (GRCm38)		probably null	Het
Ranbp2	T	C	10: 58,493,898 (GRCm38)	I3031T	probably damaging	Het
Rnf219	T	C	14: 104,479,527 (GRCm38)	Y470C	probably damaging	Het
Sbno1	T	C	5: 124,384,541 (GRCm38)	D1072G	probably damaging	Het
Senp7	A	G	16: 56,123,873 (GRCm38)	T187A	possibly damaging	Het
Serpinh1	A	G	7: 99,349,394 (GRCm38)	C10R	unknown	Het
Sh2d4a	A	G	8: 68,346,694 (GRCm38)	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317 (GRCm38)	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802 (GRCm38)	L246P	probably damaging	Het
Spire1	T	C	18: 67,528,875 (GRCm38)	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,632,559 (GRCm38)	D49E	probably damaging	Het
Susd2	C	T	10: 75,638,235 (GRCm38)	A509T	probably benign	Het
Sycp2	A	G	2: 178,382,404 (GRCm38)	F396L	probably damaging	Het
Syne2	T	C	12: 75,963,813 (GRCm38)	L2499P	probably damaging	Het
Syt10	C	A	15: 89,826,941 (GRCm38)	A130S	probably benign	Het
Sytl4	A	T	X: 133,962,187 (GRCm38)	D16E	probably benign	Het
Tab2	C	T	10: 7,920,119 (GRCm38)	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,211,499 (GRCm38)	T363A	probably damaging	Het
Terb2	A	G	2: 122,186,335 (GRCm38)	D16G	probably benign	Het
Tm2d2	A	G	8: 25,020,536 (GRCm38)	E137G	probably benign	Het
Trim30d	T	A	7: 104,472,485 (GRCm38)	H201L	probably damaging	Het
Tspan3	A	G	9: 56,147,385 (GRCm38)		probably null	Het
Ttn	A	T	2: 76,796,185 (GRCm38)		probably null	Het
Ttn	A	T	2: 76,787,323 (GRCm38)	L16268Q	probably damaging	Het
Ubap2	T	A	4: 41,218,319 (GRCm38)	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,522,120 (GRCm38)	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,996,126 (GRCm38)	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,746,634 (GRCm38)	E615G	probably damaging	Het
Zfp655	T	A	5: 145,244,057 (GRCm38)	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,648,281 (GRCm38)	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,787,158 (GRCm38)		probably null	Het

Other mutations in Cep72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Cep72	APN	13	74,062,268 (GRCm38)	unclassified	probably benign
IGL01373:Cep72	APN	13	74,059,459 (GRCm38)	missense	probably damaging	1.00
IGL02415:Cep72	APN	13	74,050,154 (GRCm38)	missense	probably benign	0.31
IGL03372:Cep72	APN	13	74,043,518 (GRCm38)	missense	possibly damaging	0.47
R0884:Cep72	UTSW	13	74,054,881 (GRCm38)	critical splice donor site	probably null
R2400:Cep72	UTSW	13	74,048,977 (GRCm38)	missense	probably damaging	0.99
R4906:Cep72	UTSW	13	74,059,465 (GRCm38)	missense	probably damaging	1.00
R5534:Cep72	UTSW	13	74,062,216 (GRCm38)	missense	probably benign	0.05
R5567:Cep72	UTSW	13	74,040,141 (GRCm38)	missense	probably benign	0.00
R5570:Cep72	UTSW	13	74,040,141 (GRCm38)	missense	probably benign	0.00
R5816:Cep72	UTSW	13	74,049,031 (GRCm38)	missense	probably benign	0.43
R6310:Cep72	UTSW	13	74,053,025 (GRCm38)	missense	possibly damaging	0.94
R6513:Cep72	UTSW	13	74,058,463 (GRCm38)	missense	probably damaging	1.00
R6848:Cep72	UTSW	13	74,038,276 (GRCm38)	missense	possibly damaging	0.85
R6936:Cep72	UTSW	13	74,040,087 (GRCm38)	missense	probably damaging	1.00
R7000:Cep72	UTSW	13	74,058,325 (GRCm38)	missense	probably damaging	0.96
R7006:Cep72	UTSW	13	74,050,308 (GRCm38)	nonsense	probably null
R7074:Cep72	UTSW	13	74,051,580 (GRCm38)	missense	probably benign	0.16
R7640:Cep72	UTSW	13	74,058,488 (GRCm38)	nonsense	probably null
R7889:Cep72	UTSW	13	74,050,122 (GRCm38)	missense	possibly damaging	0.84
R8260:Cep72	UTSW	13	74,058,346 (GRCm38)	missense	probably damaging	1.00
R8751:Cep72	UTSW	13	74,050,184 (GRCm38)	missense	possibly damaging	0.60
R8789:Cep72	UTSW	13	74,038,248 (GRCm38)	missense	possibly damaging	0.83
R9202:Cep72	UTSW	13	74,050,301 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCCCTGATGGAGGAGAGTACAGC -3'
(R):5'- TAGCTCACAGTGACCAACAGTGCC -3'

Sequencing Primer
(F):5'- GAGAGTACAGCTCACTAGCAGC -3'
(R):5'- CAAGTGATAGCCTTGCACTG -3'

Posted On

2013-07-11