Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00978:Cep97'

29201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep97

Ensembl Gene

ENSMUSG00000022604

Gene Name

centrosomal protein 97

Synonyms

4932439K18Rik, E130116N02Rik, Lrriq2, 2810403B08Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

55899888-55934855 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 55924960 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023270] [ENSMUST00000117468] [ENSMUST00000118500] [ENSMUST00000121129] [ENSMUST00000121703] [ENSMUST00000122280]

Predicted Effect

probably benign
Transcript: ENSMUST00000023270

SMART Domains

Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604

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

SMART Domains

Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604

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

SMART Domains

Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604

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: ENSMUST00000121129

SMART Domains

Protein: ENSMUSP00000112502
Gene: ENSMUSG00000022604

Domain	Start	End	E-Value	Type
Pfam:LRR_6	79	103	2.8e-2	PFAM
Pfam:LRR_4	80	122	4.4e-8	PFAM
Pfam:LRR_8	80	136	7.2e-10	PFAM
Pfam:LRR_8	102	152	8.5e-8	PFAM
Pfam:LRR_1	103	123	5.2e-2	PFAM
Pfam:LRR_6	123	153	5.6e-4	PFAM
Pfam:LRR_7	124	143	1.4e-1	PFAM
Pfam:LRR_1	125	148	1.2e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121703

SMART Domains

Protein: ENSMUSP00000113470
Gene: ENSMUSG00000022604

Domain	Start	End	E-Value	Type
Pfam:LRR_6	79	103	2.6e-2	PFAM
Pfam:LRR_4	80	122	4.1e-8	PFAM
Pfam:LRR_8	94	136	4.4e-8	PFAM
Pfam:LRR_1	103	123	4.9e-2	PFAM
Pfam:LRR_6	123	147	7e-4	PFAM
Pfam:LRR_7	124	143	1.3e-1	PFAM
Pfam:LRR_1	125	145	1.2e-3	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000122280

SMART Domains

Protein: ENSMUSP00000113009
Gene: ENSMUSG00000022604

Domain	Start	End	E-Value	Type
Pfam:LRR_6	79	103	2.7e-2	PFAM
Pfam:LRR_4	80	122	4.4e-8	PFAM
Pfam:LRR_8	94	136	4.5e-8	PFAM
Pfam:LRR_1	103	123	5.2e-2	PFAM
Pfam:LRR_6	123	147	8.1e-4	PFAM
Pfam:LRR_7	124	142	1.5e-1	PFAM
Pfam:LRR_1	125	152	1.1e-3	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,350,947		probably benign	Het
Alpk2	A	T	18: 65,291,534		probably benign	Het
Angptl8	T	C	9: 21,837,053		probably benign	Het
AU040320	T	A	4: 126,828,839	D383E	probably benign	Het
Clcn4	A	T	7: 7,287,673	L649H	probably damaging	Het
Col5a2	T	C	1: 45,376,739	N1416S	probably benign	Het
Erbb2	C	T	11: 98,435,630	P1027S	probably damaging	Het
Eya1	A	G	1: 14,270,701		probably benign	Het
Gfm2	T	C	13: 97,162,977	I402T	probably benign	Het
Gmeb2	A	T	2: 181,259,043	V187E	probably benign	Het
Hectd1	T	C	12: 51,791,390	H662R	possibly damaging	Het
Ifne	T	C	4: 88,880,031	Q50R	probably benign	Het
Kidins220	A	G	12: 25,057,474	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245	D146V	probably damaging	Het
Krt36	T	C	11: 100,102,948	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,536,128	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,754,019	H853L	probably benign	Het
Map3k5	G	A	10: 20,141,567	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,821,406	N148S	probably benign	Het
Mylk3	A	T	8: 85,355,526	L211*	probably null	Het
Nras	T	C	3: 103,058,916		probably benign	Het
Olfr135	A	T	17: 38,208,982	I246F	probably damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Os9	A	T	10: 127,120,509	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,101,228	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,382,301	R95*	probably null	Het
Rnf17	C	T	14: 56,512,271	P1425S	probably damaging	Het
Smad2	T	C	18: 76,299,775		probably benign	Het
Ttll5	C	T	12: 85,933,482	Q76*	probably null	Het
Uri1	A	T	7: 37,996,731		probably benign	Het
Vmn2r102	G	T	17: 19,678,923		probably null	Het
Vmn2r70	T	G	7: 85,563,799	M467L	probably benign	Het
Zfp318	T	A	17: 46,413,726	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,314,029	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,309,998	H235R	possibly damaging	Het

Other mutations in Cep97

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Cep97	APN	16	55922198	missense	probably damaging	1.00
IGL01383:Cep97	APN	16	55911607	missense	probably damaging	1.00
IGL01529:Cep97	APN	16	55930618	splice site	probably benign
IGL01693:Cep97	APN	16	55930594	missense	probably damaging	1.00
IGL01759:Cep97	APN	16	55930573	missense	probably damaging	1.00
IGL02085:Cep97	APN	16	55915505	missense	probably damaging	1.00
IGL02135:Cep97	APN	16	55922967	missense	probably damaging	1.00
IGL02582:Cep97	APN	16	55922176	missense	probably damaging	1.00
IGL02631:Cep97	APN	16	55922178	nonsense	probably null
IGL02899:Cep97	APN	16	55918540	missense	probably damaging	0.98
IGL03086:Cep97	APN	16	55915296	missense	probably benign
R0067:Cep97	UTSW	16	55915561	missense	possibly damaging	0.96
R0067:Cep97	UTSW	16	55915561	missense	possibly damaging	0.96
R0309:Cep97	UTSW	16	55925058	missense	probably damaging	0.96
R0504:Cep97	UTSW	16	55905779	missense	probably benign	0.00
R0507:Cep97	UTSW	16	55905882	splice site	probably benign
R0508:Cep97	UTSW	16	55930606	missense	probably benign	0.02
R0658:Cep97	UTSW	16	55914902	missense	probably benign	0.09
R1588:Cep97	UTSW	16	55927821	missense	probably damaging	1.00
R1619:Cep97	UTSW	16	55927796	missense	probably damaging	1.00
R1710:Cep97	UTSW	16	55915022	missense	probably damaging	0.99
R1872:Cep97	UTSW	16	55927866	missense	probably damaging	1.00
R1878:Cep97	UTSW	16	55905226	missense	probably damaging	1.00
R1896:Cep97	UTSW	16	55927744	missense	probably damaging	1.00
R5401:Cep97	UTSW	16	55924952	missense	probably benign	0.03
R5520:Cep97	UTSW	16	55915296	missense	probably benign
R5627:Cep97	UTSW	16	55924967	critical splice donor site	probably null
R5632:Cep97	UTSW	16	55915583	missense	probably benign	0.02
R5903:Cep97	UTSW	16	55919526	missense	probably damaging	1.00
R5914:Cep97	UTSW	16	55905457	missense	probably benign	0.02
R6185:Cep97	UTSW	16	55915092	missense	probably benign
R6381:Cep97	UTSW	16	55922171	missense	probably damaging	1.00
R7041:Cep97	UTSW	16	55905754	missense	probably benign
R7056:Cep97	UTSW	16	55905572	missense	probably damaging	1.00
R7371:Cep97	UTSW	16	55905320	missense	probably benign	0.00
R7862:Cep97	UTSW	16	55905721	missense	probably benign	0.26
R7945:Cep97	UTSW	16	55905721	missense	probably benign	0.26
R8042:Cep97	UTSW	16	55911602	missense	probably benign
Z1176:Cep97	UTSW	16	55927735	missense	probably damaging	1.00

Posted On

2013-04-17