Mutagenetix > Incidental Mutation

Incidental Mutation 'R7371:Cep97'

572123

Institutional Source

Beutler Lab

Gene Symbol

Cep97

Ensembl Gene

ENSMUSG00000022604

Gene Name

centrosomal protein 97

Synonyms

Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik

MMRRC Submission

045454-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55720251-55755218 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55725683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 807 (S807G)

Ref Sequence

ENSEMBL: ENSMUSP00000023270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023270] [ENSMUST00000117468] [ENSMUST00000118500]

AlphaFold

Q9CZ62

Predicted Effect

probably benign
Transcript: ENSMUST00000023270
AA Change: S807G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: S807G

Domain	Start	End	E-Value	Type
Pfam:LRR_9	98	259	1.8e-12	PFAM
IQ	549	571	2e-1	SMART
coiled coil region	576	609	N/A	INTRINSIC
low complexity region	661	673	N/A	INTRINSIC
low complexity region	715	728	N/A	INTRINSIC
low complexity region	775	789	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117468
AA Change: S735G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: S735G

Domain	Start	End	E-Value	Type
Pfam:LRR_9	7	187	4.1e-12	PFAM
Pfam:LRR_8	30	86	1e-7	PFAM
Pfam:LRR_4	52	94	3.6e-8	PFAM
Pfam:LRR_1	53	73	1.3e-2	PFAM
IQ	477	499	2e-1	SMART
coiled coil region	504	537	N/A	INTRINSIC
low complexity region	589	601	N/A	INTRINSIC
low complexity region	643	656	N/A	INTRINSIC
low complexity region	703	717	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118500
AA Change: S735G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: S735G

Domain	Start	End	E-Value	Type
Pfam:LRR_9	7	187	4.1e-12	PFAM
Pfam:LRR_8	30	86	1e-7	PFAM
Pfam:LRR_4	52	94	3.6e-8	PFAM
Pfam:LRR_1	53	73	1.3e-2	PFAM
IQ	477	499	2e-1	SMART
coiled coil region	504	537	N/A	INTRINSIC
low complexity region	589	601	N/A	INTRINSIC
low complexity region	643	656	N/A	INTRINSIC
low complexity region	703	717	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

98% (88/90)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	C	12: 81,607,064 (GRCm39)	S233A	probably damaging	Het
Adcy8	T	A	15: 64,571,067 (GRCm39)	H1222L	probably benign	Het
Aftph	T	C	11: 20,676,836 (GRCm39)	T258A	probably benign	Het
Ano3	A	C	2: 110,715,194 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,303,013 (GRCm39)	D1148G	probably damaging	Het
Bcl11b	A	T	12: 107,955,750 (GRCm39)	I133N	probably damaging	Het
Borcs7	T	A	19: 46,688,057 (GRCm39)	D67E	probably damaging	Het
Cacna2d4	T	A	6: 119,285,670 (GRCm39)	I774N	probably benign	Het
Catsperd	A	T	17: 56,957,801 (GRCm39)	Y236F	probably benign	Het
Cblc	T	C	7: 19,526,828 (GRCm39)	S135G	probably benign	Het
Ccdc168	C	A	1: 44,100,537 (GRCm39)	R187L	probably benign	Het
Ccdc178	A	G	18: 22,263,195 (GRCm39)	V138A	probably benign	Het
Cd300ld	C	T	11: 114,878,186 (GRCm39)	G109R	probably damaging	Het
Cdh3	T	A	8: 107,279,109 (GRCm39)	N690K	probably damaging	Het
Ceacam1	T	A	7: 25,174,145 (GRCm39)	Y170F	possibly damaging	Het
Ceacam9	A	C	7: 16,457,652 (GRCm39)	H55P	possibly damaging	Het
Celsr1	C	T	15: 85,914,875 (GRCm39)	V1033I	possibly damaging	Het
Ces1b	A	G	8: 93,783,982 (GRCm39)		probably null	Het
Chn1	T	C	2: 73,510,234 (GRCm39)	T92A	probably damaging	Het
Cimap1b	C	A	15: 89,263,365 (GRCm39)	W6L	probably damaging	Het
Cngb3	A	C	4: 19,425,575 (GRCm39)	Y461S	possibly damaging	Het
Col24a1	A	G	3: 145,049,459 (GRCm39)	N629S	probably benign	Het
Cpd	T	C	11: 76,737,437 (GRCm39)	D119G	probably benign	Het
Cpsf1	T	C	15: 76,484,775 (GRCm39)	D594G	probably damaging	Het
Cpsf7	C	T	19: 10,509,203 (GRCm39)	A38V	probably benign	Het
Cry1	A	T	10: 84,983,783 (GRCm39)	H224Q	probably benign	Het
Ctr9	T	A	7: 110,633,014 (GRCm39)	D87E	probably damaging	Het
Cyp2u1	T	A	3: 131,087,144 (GRCm39)	N479I	probably benign	Het
Dip2c	A	G	13: 9,642,785 (GRCm39)	N672D	probably benign	Het
Dnah14	T	C	1: 181,454,450 (GRCm39)	V820A	probably benign	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fgb	T	C	3: 82,953,359 (GRCm39)	Y137C	probably damaging	Het
Fkbp15	A	G	4: 62,239,293 (GRCm39)	V604A	possibly damaging	Het
Flii	A	T	11: 60,609,090 (GRCm39)	N682K	probably benign	Het
Fmo3	A	G	1: 162,781,796 (GRCm39)	L519P	possibly damaging	Het
Gapvd1	T	A	2: 34,607,385 (GRCm39)	M538L	probably benign	Het
Gbp11	A	G	5: 105,489,971 (GRCm39)	V69A	probably benign	Het
Ggn	T	A	7: 28,871,605 (GRCm39)	D364E	probably benign	Het
Gm10377	G	A	14: 42,614,853 (GRCm39)	P171S	probably benign	Het
Gramd4	C	T	15: 86,019,607 (GRCm39)	A625V	probably benign	Het
Il2ra	T	A	2: 11,647,831 (GRCm39)	M7K	probably benign	Het
Iqgap2	A	T	13: 95,836,846 (GRCm39)		probably null	Het
Itgb4	T	C	11: 115,888,906 (GRCm39)	V1083A	probably benign	Het
Kcnma1	G	A	14: 23,544,638 (GRCm39)	A573V	possibly damaging	Het
Kirrel1	T	C	3: 86,995,729 (GRCm39)	T402A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt4	T	A	15: 101,828,823 (GRCm39)	Q347L	probably damaging	Het
Map3k21	T	A	8: 126,661,804 (GRCm39)	I467N	probably damaging	Het
Mastl	A	T	2: 23,030,585 (GRCm39)	S195T	probably damaging	Het
Mis18bp1	G	T	12: 65,205,368 (GRCm39)	T268K	probably benign	Het
Mmp17	G	A	5: 129,682,836 (GRCm39)	G492S	probably null	Het
Myc	T	A	15: 61,860,031 (GRCm39)	S236T	probably damaging	Het
Nlrp5	A	T	7: 23,117,848 (GRCm39)	E524V	probably damaging	Het
Nopchap1	T	C	10: 83,201,680 (GRCm39)	V151A	probably benign	Het
Npr3	T	A	15: 11,845,376 (GRCm39)		probably null	Het
Oog4	T	C	4: 143,165,346 (GRCm39)	N267S	possibly damaging	Het
Or2a12	T	A	6: 42,904,469 (GRCm39)	Y101*	probably null	Het
Or4l15	A	T	14: 50,198,563 (GRCm39)		probably null	Het
Or56a5	A	G	7: 104,793,086 (GRCm39)	I138T	possibly damaging	Het
Pde4dip	T	C	3: 97,664,587 (GRCm39)	E425G	probably benign	Het
Piwil4	A	C	9: 14,638,729 (GRCm39)	N312K	probably benign	Het
Pmepa1	A	G	2: 173,076,212 (GRCm39)	M47T	possibly damaging	Het
Potefam1	A	T	2: 111,023,826 (GRCm39)	S475T	unknown	Het
Prkcg	G	A	7: 3,368,069 (GRCm39)	G372D	probably benign	Het
Prune2	A	G	19: 17,096,734 (GRCm39)	H746R	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Rab3gap2	C	G	1: 184,983,265 (GRCm39)	A468G	probably damaging	Het
Ralb	A	G	1: 119,400,129 (GRCm39)	L123P		Het
Ralgapa2	G	A	2: 146,189,046 (GRCm39)	T1288I	probably benign	Het
Samd4b	C	A	7: 28,122,926 (GRCm39)	C44F	probably benign	Het
Satb1	C	A	17: 52,090,008 (GRCm39)	E280*	probably null	Het
Sec1	T	C	7: 45,328,034 (GRCm39)	T338A	probably damaging	Het
Sec16a	T	C	2: 26,331,734 (GRCm39)	T94A	probably benign	Het
Serpina1f	G	A	12: 103,656,086 (GRCm39)	R381W	probably damaging	Het
Sfswap	A	T	5: 129,620,305 (GRCm39)	T525S	probably benign	Het
Skor1	T	C	9: 63,054,169 (GRCm39)		probably null	Het
Spc24	A	G	9: 21,668,664 (GRCm39)	L111P	probably damaging	Het
St8sia2	T	C	7: 73,616,675 (GRCm39)	D121G	probably damaging	Het
Tanc2	A	G	11: 105,689,422 (GRCm39)	T195A	probably benign	Het
Tbc1d9	T	A	8: 83,997,890 (GRCm39)	I1149N	probably damaging	Het
Tph2	A	T	10: 114,987,016 (GRCm39)	L258Q	probably damaging	Het
Trpm3	A	T	19: 22,879,557 (GRCm39)	M781L	probably benign	Het
Ubap2	G	T	4: 41,195,779 (GRCm39)	P1005T	probably benign	Het
Upf2	A	G	2: 5,965,851 (GRCm39)	E157G	unknown	Het
Urb2	C	A	8: 124,755,008 (GRCm39)	D238E	probably benign	Het
Vipr1	T	C	9: 121,497,621 (GRCm39)	S380P	probably damaging	Het
Zc3h18	T	A	8: 123,139,760 (GRCm39)	S734T	unknown	Het
Zmym6	T	A	4: 126,998,106 (GRCm39)	Y381N	probably damaging	Het
Zscan4e	T	C	7: 11,041,251 (GRCm39)	K207R	probably benign	Het

Other mutations in Cep97

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Cep97	APN	16	55,745,323 (GRCm39)	splice site	probably benign
IGL01142:Cep97	APN	16	55,742,561 (GRCm39)	missense	probably damaging	1.00
IGL01383:Cep97	APN	16	55,731,970 (GRCm39)	missense	probably damaging	1.00
IGL01529:Cep97	APN	16	55,750,981 (GRCm39)	splice site	probably benign
IGL01693:Cep97	APN	16	55,750,957 (GRCm39)	missense	probably damaging	1.00
IGL01759:Cep97	APN	16	55,750,936 (GRCm39)	missense	probably damaging	1.00
IGL02085:Cep97	APN	16	55,735,868 (GRCm39)	missense	probably damaging	1.00
IGL02135:Cep97	APN	16	55,743,330 (GRCm39)	missense	probably damaging	1.00
IGL02582:Cep97	APN	16	55,742,539 (GRCm39)	missense	probably damaging	1.00
IGL02631:Cep97	APN	16	55,742,541 (GRCm39)	nonsense	probably null
IGL02899:Cep97	APN	16	55,738,903 (GRCm39)	missense	probably damaging	0.98
IGL03086:Cep97	APN	16	55,735,659 (GRCm39)	missense	probably benign
R0067:Cep97	UTSW	16	55,735,924 (GRCm39)	missense	possibly damaging	0.96
R0067:Cep97	UTSW	16	55,735,924 (GRCm39)	missense	possibly damaging	0.96
R0309:Cep97	UTSW	16	55,745,421 (GRCm39)	missense	probably damaging	0.96
R0504:Cep97	UTSW	16	55,726,142 (GRCm39)	missense	probably benign	0.00
R0507:Cep97	UTSW	16	55,726,245 (GRCm39)	splice site	probably benign
R0508:Cep97	UTSW	16	55,750,969 (GRCm39)	missense	probably benign	0.02
R0658:Cep97	UTSW	16	55,735,265 (GRCm39)	missense	probably benign	0.09
R1588:Cep97	UTSW	16	55,748,184 (GRCm39)	missense	probably damaging	1.00
R1619:Cep97	UTSW	16	55,748,159 (GRCm39)	missense	probably damaging	1.00
R1710:Cep97	UTSW	16	55,735,385 (GRCm39)	missense	probably damaging	0.99
R1872:Cep97	UTSW	16	55,748,229 (GRCm39)	missense	probably damaging	1.00
R1878:Cep97	UTSW	16	55,725,589 (GRCm39)	missense	probably damaging	1.00
R1896:Cep97	UTSW	16	55,748,107 (GRCm39)	missense	probably damaging	1.00
R5401:Cep97	UTSW	16	55,745,315 (GRCm39)	missense	probably benign	0.03
R5520:Cep97	UTSW	16	55,735,659 (GRCm39)	missense	probably benign
R5627:Cep97	UTSW	16	55,745,330 (GRCm39)	critical splice donor site	probably null
R5632:Cep97	UTSW	16	55,735,946 (GRCm39)	missense	probably benign	0.02
R5903:Cep97	UTSW	16	55,739,889 (GRCm39)	missense	probably damaging	1.00
R5914:Cep97	UTSW	16	55,725,820 (GRCm39)	missense	probably benign	0.02
R6185:Cep97	UTSW	16	55,735,455 (GRCm39)	missense	probably benign
R6381:Cep97	UTSW	16	55,742,534 (GRCm39)	missense	probably damaging	1.00
R7041:Cep97	UTSW	16	55,726,117 (GRCm39)	missense	probably benign
R7056:Cep97	UTSW	16	55,725,935 (GRCm39)	missense	probably damaging	1.00
R7862:Cep97	UTSW	16	55,726,084 (GRCm39)	missense	probably benign	0.26
R7951:Cep97	UTSW	16	55,725,820 (GRCm39)	missense	probably benign	0.02
R8042:Cep97	UTSW	16	55,731,965 (GRCm39)	missense	probably benign
R8337:Cep97	UTSW	16	55,735,394 (GRCm39)	nonsense	probably null
R8782:Cep97	UTSW	16	55,726,084 (GRCm39)	missense	probably benign	0.26
R8876:Cep97	UTSW	16	55,742,467 (GRCm39)	missense	possibly damaging	0.55
R9028:Cep97	UTSW	16	55,739,915 (GRCm39)	nonsense	probably null
R9514:Cep97	UTSW	16	55,726,093 (GRCm39)	missense	probably benign	0.01
R9544:Cep97	UTSW	16	55,735,303 (GRCm39)	missense	possibly damaging	0.86
Z1176:Cep97	UTSW	16	55,748,098 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAATTGAATTTCTGCTCCCCAG -3'
(R):5'- ATGCGTCAAAGACCGAGACTC -3'

Sequencing Primer
(F):5'- GAATTTCTGCTCCCCAGTAAATCAG -3'
(R):5'- CCGAGGAGCACAGTGACTG -3'

Posted On

2019-09-13