Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:Cep97'

153518

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 #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

55899888-55934855 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55930573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 27 (K27E)

Ref Sequence

ENSEMBL: ENSMUSP00000023270 (fasta)

Gene Model

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

AlphaFold

Q9CZ62

Predicted Effect

probably damaging
Transcript: ENSMUST00000023270
AA Change: K27E

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

SMART Domains

Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: K27E

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 damaging
Transcript: ENSMUST00000121129
AA Change: K27E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112502
Gene: ENSMUSG00000022604
AA Change: K27E

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 damaging
Transcript: ENSMUST00000121703
AA Change: K27E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113470
Gene: ENSMUSG00000022604
AA Change: K27E

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

probably damaging
Transcript: ENSMUST00000122280
AA Change: K27E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113009
Gene: ENSMUSG00000022604
AA Change: K27E

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,835,799	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,081,139	I277N	probably damaging	Het
Ap1b1	C	T	11: 5,019,433	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335	V313L	probably damaging	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Car2	G	A	3: 14,895,628		probably null	Het
Cdh17	T	A	4: 11,771,262		probably benign	Het
Cep295	A	G	9: 15,323,559		probably null	Het
Cops5	A	T	1: 10,027,249	N258K	probably damaging	Het
Dchs1	T	A	7: 105,755,302	T2678S	probably benign	Het
Dnah10	T	A	5: 124,755,786	F861Y	probably benign	Het
Dock10	T	C	1: 80,526,273	E1777G	probably damaging	Het
Dock5	G	A	14: 67,881,259	Q23*	probably null	Het
Ermp1	T	C	19: 29,615,836	K752R	probably benign	Het
Fam160a1	A	C	3: 85,688,447	I377S	probably damaging	Het
Gjd2	T	A	2: 114,011,106	I297L	probably benign	Het
Gm1123	T	C	9: 99,023,254	M68V	probably benign	Het
Gm28372	C	T	2: 130,406,898	R59W	probably damaging	Het
Gm9912	A	C	3: 149,185,438	F20V	unknown	Het
Gpat2	T	C	2: 127,430,896	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,055,665	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,696,420	D40V	probably damaging	Het
Jakmip3	A	T	7: 139,020,904	Q331L	probably damaging	Het
Kif5b	A	T	18: 6,211,019		probably benign	Het
Kif5b	A	G	18: 6,225,647	V179A	probably damaging	Het
Krt14	A	T	11: 100,204,416		probably benign	Het
L3mbtl3	A	G	10: 26,331,900	F307S	unknown	Het
Laptm4a	T	C	12: 8,934,687		probably benign	Het
Marveld3	T	C	8: 109,948,087	S366G	possibly damaging	Het
Mga	C	A	2: 119,951,195	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,592,331	N54S	probably benign	Het
Mras	T	C	9: 99,411,495	I31V	probably damaging	Het
Myh1	A	G	11: 67,219,906	D1518G	probably damaging	Het
Myoz2	A	T	3: 123,013,781	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,013,962	W273L	probably benign	Het
Nol9	C	T	4: 152,046,043		probably benign	Het
Nrxn2	T	C	19: 6,509,929	V1206A	probably damaging	Het
Olfr180	A	T	16: 58,915,928	F238I	probably damaging	Het
Olfr523	T	C	7: 140,176,534	I138T	probably benign	Het
Olfr694	T	C	7: 106,689,333	T133A	probably benign	Het
Olfr774	T	A	10: 129,239,072	F308I	probably benign	Het
Olfr971	T	A	9: 39,839,611	M59K	probably damaging	Het
Pappa	T	C	4: 65,205,158		probably null	Het
Pfkl	A	G	10: 78,000,731	S151P	probably damaging	Het
Pgbd5	C	T	8: 124,384,379	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,253,353	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,348,316	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,175,932	V386L	probably benign	Het
S1pr3	G	A	13: 51,419,512	R243Q	probably damaging	Het
Slc44a4	A	G	17: 34,921,243	D208G	probably benign	Het
Slc6a4	T	C	11: 77,013,288	S190P	probably damaging	Het
Snapc5	A	T	9: 64,180,497		probably null	Het
Tbc1d14	C	A	5: 36,571,569	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,931,392		probably benign	Het
Tmem219	G	A	7: 126,897,138	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951	R51G	probably null	Het
Ugp2	T	C	11: 21,353,447	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,034,492	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,064,068	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,789	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,655	D679G	probably damaging	Het
Zhx3	T	C	2: 160,780,714	N511S	probably damaging	Het

Other mutations in Cep97

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Cep97	APN	16	55924960	splice site	probably benign
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
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
R7951:Cep97	UTSW	16	55905457	missense	probably benign	0.02
R8042:Cep97	UTSW	16	55911602	missense	probably benign
R8337:Cep97	UTSW	16	55915031	nonsense	probably null
R8782:Cep97	UTSW	16	55905721	missense	probably benign	0.26
R8876:Cep97	UTSW	16	55922104	missense	possibly damaging	0.55
R9028:Cep97	UTSW	16	55919552	nonsense	probably null
R9514:Cep97	UTSW	16	55905730	missense	probably benign	0.01
R9544:Cep97	UTSW	16	55914940	missense	possibly damaging	0.86
Z1176:Cep97	UTSW	16	55927735	missense	probably damaging	1.00

Posted On

2014-02-04