Mutagenetix > Incidental Mutation

Incidental Mutation 'R1872:Cep97'

210886

Institutional Source

Beutler Lab

Gene Symbol

Cep97

Ensembl Gene

ENSMUSG00000022604

Gene Name

centrosomal protein 97

Synonyms

4932439K18Rik, E130116N02Rik, Lrriq2, 2810403B08Rik

MMRRC Submission

039894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55899888-55934855 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55927866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 67 (N67I)

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: N67I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: N67I

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: N67I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112502
Gene: ENSMUSG00000022604
AA Change: N67I

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

possibly damaging
Transcript: ENSMUST00000121703
AA Change: N67I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113470
Gene: ENSMUSG00000022604
AA Change: N67I

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: N67I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113009
Gene: ENSMUSG00000022604
AA Change: N67I

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

0.1671

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (113/117)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,556,844	C133Y	unknown	Het
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abce1	A	G	8: 79,690,251	M377T	possibly damaging	Het
Adam25	A	T	8: 40,755,226	R510*	probably null	Het
Adamts12	G	T	15: 11,217,880	E308*	probably null	Het
Adgrg3	C	A	8: 95,033,442	N96K	possibly damaging	Het
Afdn	T	C	17: 13,881,316	V1022A	probably damaging	Het
Akap9	T	C	5: 4,001,406	V1391A	probably damaging	Het
Akip1	A	G	7: 109,711,775	Y174C	probably damaging	Het
Ap3b2	T	C	7: 81,464,150	T830A	unknown	Het
Aph1a	A	G	3: 95,895,564	T159A	probably damaging	Het
Ccdc146	T	C	5: 21,301,290	T718A	probably benign	Het
Cdk5r2	T	C	1: 74,855,822	L242P	probably damaging	Het
Chic2	A	T	5: 75,011,479	W121R	possibly damaging	Het
Clock	A	G	5: 76,248,462	S147P	possibly damaging	Het
Cntnap5a	T	G	1: 116,089,210	S178A	probably benign	Het
Col11a2	C	A	17: 34,062,555		probably benign	Het
Col6a3	T	A	1: 90,830,214	H6L	probably damaging	Het
Cpne5	T	C	17: 29,204,693	N154D	probably benign	Het
Ctsz	T	G	2: 174,427,976	K273Q	probably benign	Het
Cybrd1	G	A	2: 71,129,760	V101M	probably benign	Het
Cyp2c23	T	A	19: 44,005,551	K459*	probably null	Het
Cyp4a31	A	T	4: 115,574,736	H419L	probably damaging	Het
D930020B18Rik	G	A	10: 121,641,974	V35M	probably damaging	Het
Dnah9	C	T	11: 66,037,490	V2118M	probably benign	Het
Doxl2	A	G	6: 48,975,620	I160V	probably benign	Het
Dtna	T	C	18: 23,597,560		probably null	Het
Ednra	C	T	8: 77,720,396	V18I	possibly damaging	Het
Elac1	T	C	18: 73,742,646	R105G	probably benign	Het
Exoc2	A	G	13: 30,822,661	S844P	probably benign	Het
Fam185a	A	T	5: 21,480,330		probably null	Het
Fam204a	A	G	19: 60,199,449	M233T	possibly damaging	Het
Fat1	T	A	8: 45,038,349	Y3816N	probably damaging	Het
Fat1	C	A	8: 44,953,304	H1031N	probably benign	Het
Fbxo38	C	T	18: 62,517,023	R621Q	probably benign	Het
Fhod3	C	A	18: 25,130,610	R1524S	probably damaging	Het
Fnip1	A	T	11: 54,487,735	R192W	probably damaging	Het
Frem3	T	A	8: 80,612,576	H499Q	probably damaging	Het
Gab2	C	T	7: 97,299,043	T280I	probably damaging	Het
Gdpgp1	A	G	7: 80,238,424	R68G	probably benign	Het
Gm10382	C	T	5: 125,389,560		probably benign	Het
Gm4858	T	A	3: 93,074,422	L249H	probably damaging	Het
Gmps	A	G	3: 64,001,517	H480R	probably benign	Het
Hecw1	G	A	13: 14,280,449	R674*	probably null	Het
Herc2	T	A	7: 56,157,509	F2478L	probably benign	Het
Homer2	C	T	7: 81,636,402	V21M	probably damaging	Het
Ifna9	A	G	4: 88,592,255	M44T	probably damaging	Het
Igfl3	A	G	7: 18,179,896	D57G	possibly damaging	Het
Jcad	T	C	18: 4,673,048	M270T	probably benign	Het
Kdm5b	T	C	1: 134,624,994	L1236P	probably damaging	Het
Kif14	T	A	1: 136,486,358	L724Q	probably damaging	Het
Lhb	T	C	7: 45,421,333	V45A	probably damaging	Het
Lhpp	A	G	7: 132,634,087	N134D	probably benign	Het
Mas1	T	C	17: 12,842,191	Y115C	probably damaging	Het
Mb21d1	T	C	9: 78,433,202	D416G	probably benign	Het
Mgam	A	T	6: 40,661,300	K395*	probably null	Het
Mms22l	A	G	4: 24,598,807	N1134S	probably damaging	Het
Mrc1	A	G	2: 14,325,381		probably null	Het
Mrgprg	G	A	7: 143,764,544	S277L	probably damaging	Het
Mrpl49	G	T	19: 6,056,980	P60T	possibly damaging	Het
Mrps10	G	A	17: 47,372,452	G104D	possibly damaging	Het
Msantd3	A	G	4: 48,552,771	Y120C	probably damaging	Het
N4bp2	C	T	5: 65,794,518		probably benign	Het
Nbea	A	G	3: 55,642,889	V2706A	probably benign	Het
Nfic	T	A	10: 81,420,684	M71L	possibly damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1112	A	G	2: 87,191,878	T64A	possibly damaging	Het
Olfr115	G	T	17: 37,609,912	P280T	probably damaging	Het
Olfr1202	T	A	2: 88,817,936	V255E	probably benign	Het
Olfr1234	A	G	2: 89,362,589	L280P	probably damaging	Het
Pak7	T	C	2: 136,085,588	I655V	possibly damaging	Het
Pip5k1c	A	G	10: 81,306,319	N121S	probably damaging	Het
Plce1	A	T	19: 38,760,077	I1737F	probably damaging	Het
Prrt1	T	C	17: 34,630,951	L113P	probably damaging	Het
Ptprq	T	A	10: 107,643,999	T1137S	probably benign	Het
Recql5	T	C	11: 115,923,309	I223V	probably benign	Het
Reg3g	A	T	6: 78,467,853	Y47*	probably null	Het
Rgs12	T	G	5: 34,965,821	M316R	probably damaging	Het
Ric1	T	C	19: 29,602,668	S1290P	probably benign	Het
Rpl36al	A	G	12: 69,182,923	C72R	probably damaging	Het
Rplp0	T	A	5: 115,563,315	F275L	possibly damaging	Het
Rpp30	G	A	19: 36,087,393	V89I	probably benign	Het
Ryr3	A	G	2: 112,709,137	F3253L	possibly damaging	Het
Serpina3n	A	T	12: 104,408,944	N92Y	probably benign	Het
Setd7	G	T	3: 51,542,831	T58N	probably benign	Het
Sh3tc2	T	A	18: 62,011,883	L1136Q	probably damaging	Het
Slc35b4	G	A	6: 34,158,505	Q291*	probably null	Het
Soga1	A	G	2: 157,040,261	C624R	possibly damaging	Het
Sort1	A	G	3: 108,340,695	N452S	probably benign	Het
Sympk	A	G	7: 19,029,145	I46V	probably benign	Het
Syngr2	T	C	11: 117,812,538	V60A	probably damaging	Het
Syt17	A	T	7: 118,408,118	F318I	probably benign	Het
Tgfb1	T	A	7: 25,692,466	L149M	probably damaging	Het
Ticam1	A	T	17: 56,271,897	M66K	probably benign	Het
Tmem131	G	T	1: 36,807,927	D1363E	probably benign	Het
Tns4	A	C	11: 99,080,100	D261E	probably damaging	Het
Trim30a	T	C	7: 104,429,210	N220D	probably benign	Het
Trmt10a	T	C	3: 138,156,720	L257P	probably damaging	Het
Troap	G	T	15: 99,075,352		probably benign	Het
Ttc6	T	C	12: 57,704,552		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vav1	A	C	17: 57,324,750	K775T	probably damaging	Het
Vmn1r236	A	G	17: 21,287,411	K264E	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,628	V46A	probably benign	Het
Wdr59	A	T	8: 111,459,017	W835R	probably damaging	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het
Zfp7	T	G	15: 76,891,777	I673S	probably benign	Het
Zmynd11	A	G	13: 9,698,701	I108T	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCAGTTATAGAAGTAGACAGTCTCAC -3'
(R):5'- GGTTACCCCACACAGGTTTTATC -3'

Sequencing Primer
(F):5'- GTAGACAGTCTCACTTTTTAGTTGAC -3'
(R):5'- ACCCCACACAGGTTTTATCTATATG -3'

Posted On

2014-06-30