Mutagenetix > Incidental Mutations

Incidental Mutation 'R5903:Cep97'

456470

Institutional Source

Beutler Lab

Gene Symbol

Cep97

Ensembl Gene

ENSMUSG00000022604

Gene Name

centrosomal protein 97

Synonyms

4932439K18Rik, E130116N02Rik, Lrriq2, 2810403B08Rik

MMRRC Submission

044101-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55899888-55934855 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55919526 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 185 (S185L)

Ref Sequence

ENSEMBL: ENSMUSP00000112663 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023270
AA Change: S257L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: S257L

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 damaging
Transcript: ENSMUST00000117468
AA Change: S185L

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

SMART Domains

Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: S185L

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: ENSMUST00000118500
AA Change: S185L

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

SMART Domains

Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: S185L

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: 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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 65,988,318	V150A	unknown	Het
Abraxas1	T	C	5: 100,817,958		probably null	Het
Actl7a	G	T	4: 56,743,827	R118L	probably damaging	Het
Atg2b	T	C	12: 105,639,359	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,706,293	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,712,279	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760	D347G	probably damaging	Het
Baz2b	C	T	2: 59,959,889	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,930,542	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,173,772	Q745*	probably null	Het
Clec4d	A	G	6: 123,267,061	H43R	probably damaging	Het
Cntn3	T	A	6: 102,242,133	M509L	probably benign	Het
Cntrob	A	C	11: 69,309,375	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,507,277	N37I	possibly damaging	Het
Edc4	A	G	8: 105,890,587	T1029A	probably benign	Het
Fam160b2	A	T	14: 70,591,681	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,171,444		probably null	Het
Fzd6	T	A	15: 39,007,388	M1K	probably null	Het
Gle1	C	A	2: 29,940,281	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,565,962	V161A	probably damaging	Het
Hsf2	T	C	10: 57,504,723	S218P	probably benign	Het
Ipo7	T	A	7: 110,050,813	C736S	probably damaging	Het
Itpkb	G	T	1: 180,413,975	V737L	probably damaging	Het
Itpr1	T	C	6: 108,489,797		probably benign	Het
Kcnh8	G	T	17: 52,803,336	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,380,462		probably benign	Het
Kdm3a	C	A	6: 71,632,250		probably benign	Het
Kif5a	T	A	10: 127,230,578	M990L	probably benign	Het
Klf12	A	G	14: 100,022,688	S202P	probably damaging	Het
Krt81	T	G	15: 101,460,202	Q390P	probably damaging	Het
Lrig3	T	C	10: 126,008,478	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,258,248	V48D	probably damaging	Het
Mta1	C	T	12: 113,136,619	P688L	probably damaging	Het
Oas1h	T	C	5: 120,870,977	V250A	probably damaging	Het
Olfr618	G	T	7: 103,597,921	G202*	probably null	Het
Olfr95	A	T	17: 37,211,021	Y277*	probably null	Het
P2rx3	T	C	2: 85,000,727	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,345,286	I101T	possibly damaging	Het
Psme4	A	T	11: 30,841,589	N1148I	probably benign	Het
Rnf213	T	C	11: 119,421,369	L874P	probably damaging	Het
Sart3	T	C	5: 113,751,239	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,970,133		probably benign	Het
Slc9b1	C	T	3: 135,392,894		probably benign	Het
Stmn3	T	C	2: 181,308,780	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,394,106	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,148,785	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,223,981	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,215,123	P113L	probably damaging	Het
Unc5a	T	A	13: 54,999,690	C438S	possibly damaging	Het
Zan	C	A	5: 137,442,134	C1946F	unknown	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
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
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
Z1176:Cep97	UTSW	16	55927735	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTACAGGGAAGTCACCAAC -3'
(R):5'- GAGCGCTTGCACTATCTCTC -3'

Sequencing Primer
(F):5'- GGGAAGTCACCAACAAAGCTCTC -3'
(R):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'

Posted On

2017-02-15