Mutagenetix > Incidental Mutations

Incidental Mutation 'R7137:Cep170b'

553143

Institutional Source

Beutler Lab

Gene Symbol

Cep170b

Ensembl Gene

ENSMUSG00000072825

Gene Name

centrosomal protein 170B

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.442) question?

Stock #

R7137 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112720455-112746592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112735167 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 160 (V160A)

Ref Sequence

ENSEMBL: ENSMUSP00000098580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092279] [ENSMUST00000101018] [ENSMUST00000179041] [ENSMUST00000220627] [ENSMUST00000222711]

Predicted Effect

unknown
Transcript: ENSMUST00000092279
AA Change: V160A

SMART Domains

Protein: ENSMUSP00000089930
Gene: ENSMUSG00000072825
AA Change: V160A

Domain	Start	End	E-Value	Type
FHA	22	73	4.65e-10	SMART
Pfam:CEP170_C	204	598	8.9e-174	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101018
AA Change: V160A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: V160A

Domain	Start	End	E-Value	Type
FHA	22	73	4.65e-10	SMART
low complexity region	370	382	N/A	INTRINSIC
low complexity region	535	548	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	739	757	N/A	INTRINSIC
Pfam:CEP170_C	831	1514	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179041
AA Change: V160A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: V160A

Domain	Start	End	E-Value	Type
FHA	22	73	4.65e-10	SMART
low complexity region	370	382	N/A	INTRINSIC
low complexity region	535	548	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	739	757	N/A	INTRINSIC
Pfam:CEP170_C	832	1510	4.3e-303	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220627
AA Change: V160A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222711
AA Change: V160A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,677,985	S1423P	possibly damaging	Het
Acvr1c	A	G	2: 58,283,387		probably null	Het
Adgrf5	A	G	17: 43,450,897	K1161R	probably damaging	Het
Arhgap32	T	G	9: 32,151,936	D80E	probably benign	Het
Aspg	T	C	12: 112,112,198	V30A	possibly damaging	Het
Bcl2a1d	T	C	9: 88,731,478	D81G	probably damaging	Het
Ces1c	T	C	8: 93,130,842	Y37C	probably benign	Het
Cntnap5a	T	C	1: 116,089,376	L233P	probably damaging	Het
Crem	C	A	18: 3,273,459	A245S	possibly damaging	Het
Cyp2d12	C	T	15: 82,557,821	A280V	probably benign	Het
Dnah2	C	T	11: 69,491,555	G1243D	probably damaging	Het
Emcn	T	G	3: 137,403,991	N131K	probably damaging	Het
Fat3	A	T	9: 15,997,148	D2519E	probably damaging	Het
Fibin	T	A	2: 110,362,656	D47V	probably damaging	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
Gimap8	C	A	6: 48,650,253	L54I	probably damaging	Het
Gm20481	A	G	17: 34,970,095	Y27C	unknown	Het
Gm21319	A	T	12: 87,773,546	L81Q	possibly damaging	Het
Grin1	T	G	2: 25,313,538	M154L	probably benign	Het
Ighv8-13	A	G	12: 115,765,577	L20P	probably damaging	Het
Insc	G	A	7: 114,811,615	V236I	probably benign	Het
Lrrk1	A	G	7: 66,285,279	F1031L	probably benign	Het
Man2a2	C	A	7: 80,359,751	R785L	probably benign	Het
Mcur1	C	A	13: 43,544,455		probably null	Het
Med12l	A	C	3: 59,258,254	R1464S	probably damaging	Het
Mycbp2	A	T	14: 103,282,679	M767K	possibly damaging	Het
Naalad2	T	C	9: 18,323,487	I762V	probably benign	Het
Nfkbid	A	G	7: 30,426,256	T357A	possibly damaging	Het
Pcdh17	A	G	14: 84,533,549	R1156G	possibly damaging	Het
Pcdhb1	T	C	18: 37,267,392	S799P	possibly damaging	Het
Pde3a	A	T	6: 141,498,746	E1093D	probably benign	Het
Plcg1	T	C	2: 160,753,926	Y572H	possibly damaging	Het
Plxna4	A	G	6: 32,517,264	L139P	probably damaging	Het
Psma1	A	G	7: 114,274,448	Y6H	probably damaging	Het
Psmd2	A	G	16: 20,652,627	E76G	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Pyy	T	G	11: 102,107,273	D27A	possibly damaging	Het
Slc22a2	A	G	17: 12,584,341	T21A	probably benign	Het
Slc25a2	T	C	18: 37,638,147	I110V	probably benign	Het
Sult1c2	A	C	17: 53,838,394	W85G	probably damaging	Het
Svs1	A	G	6: 48,990,149	Y677C	probably damaging	Het
Syt12	C	T	19: 4,453,950	D218N	probably damaging	Het
Tln1	C	T	4: 43,540,616	V1462M	probably damaging	Het
Tor1aip2	T	A	1: 156,051,976	N33K	possibly damaging	Het
Usp17lb	C	A	7: 104,841,591	W43L	probably benign	Het
Vmn1r76	A	G	7: 11,930,685	Y201H	possibly damaging	Het
Wnk1	C	A	6: 120,038,212		probably benign	Het
Wrnip1	A	G	13: 32,802,749	D171G	probably benign	Het
Zar1	T	A	5: 72,580,816	N81I	probably damaging	Het
Zbtb45	T	C	7: 13,007,156	T392A	probably benign	Het
Zfp445	T	C	9: 122,854,778	E272G	probably damaging	Het

Other mutations in Cep170b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Cep170b	APN	12	112735194	missense	probably damaging	1.00
IGL01313:Cep170b	APN	12	112735652	missense	probably damaging	1.00
IGL01317:Cep170b	APN	12	112737644	missense	probably damaging	1.00
IGL01660:Cep170b	APN	12	112744160	missense	probably damaging	1.00
IGL02032:Cep170b	APN	12	112737333	critical splice donor site	probably null
IGL02505:Cep170b	APN	12	112743070	missense	probably damaging	1.00
IGL02966:Cep170b	APN	12	112736444	missense	possibly damaging	0.75
IGL03111:Cep170b	APN	12	112735179	missense	probably damaging	1.00
IGL03367:Cep170b	APN	12	112737238	missense	probably benign	0.00
R0348:Cep170b	UTSW	12	112736806	missense	probably damaging	1.00
R0562:Cep170b	UTSW	12	112739189	missense	probably benign	0.00
R0909:Cep170b	UTSW	12	112732039	missense	probably null	0.06
R1217:Cep170b	UTSW	12	112740905	missense	probably damaging	0.99
R1300:Cep170b	UTSW	12	112737257	missense	probably benign	0.02
R1647:Cep170b	UTSW	12	112736372	missense	probably damaging	1.00
R1648:Cep170b	UTSW	12	112736372	missense	probably damaging	1.00
R1652:Cep170b	UTSW	12	112733513	missense	probably damaging	0.99
R1737:Cep170b	UTSW	12	112736627	missense	possibly damaging	0.71
R1936:Cep170b	UTSW	12	112735738	missense	probably damaging	1.00
R1962:Cep170b	UTSW	12	112738061	missense	probably damaging	1.00
R2094:Cep170b	UTSW	12	112735730	missense	possibly damaging	0.90
R2208:Cep170b	UTSW	12	112738985	missense	probably benign	0.00
R3418:Cep170b	UTSW	12	112738468	nonsense	probably null
R3735:Cep170b	UTSW	12	112741004	missense	probably damaging	1.00
R3736:Cep170b	UTSW	12	112741004	missense	probably damaging	1.00
R4299:Cep170b	UTSW	12	112739305	missense	probably damaging	1.00
R4577:Cep170b	UTSW	12	112744718	missense	probably damaging	1.00
R5199:Cep170b	UTSW	12	112744147	missense	probably damaging	1.00
R5512:Cep170b	UTSW	12	112733485	missense	possibly damaging	0.86
R5575:Cep170b	UTSW	12	112735632	missense	probably damaging	1.00
R5643:Cep170b	UTSW	12	112740841	missense	probably benign	0.35
R6074:Cep170b	UTSW	12	112744155	missense	probably damaging	1.00
R6265:Cep170b	UTSW	12	112744559	missense	probably damaging	1.00
R6371:Cep170b	UTSW	12	112740945	missense	probably damaging	1.00
R6376:Cep170b	UTSW	12	112732068	missense	probably damaging	0.99
R7055:Cep170b	UTSW	12	112735715	missense	probably damaging	1.00
R7226:Cep170b	UTSW	12	112737925	missense	possibly damaging	0.80
R7615:Cep170b	UTSW	12	112744665	missense	probably damaging	1.00
R7831:Cep170b	UTSW	12	112744800	missense	probably benign	0.08
R8178:Cep170b	UTSW	12	112739285	missense	possibly damaging	0.92
R8492:Cep170b	UTSW	12	112744700	missense	probably damaging	1.00
Z1176:Cep170b	UTSW	12	112741012	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTGAGAGGCTCAAGACAG -3'
(R):5'- ACCATTTTGCTGTGCCAGG -3'

Sequencing Primer
(F):5'- GCCATCTTCACCCACAGATGTG -3'
(R):5'- GCTGTGCCAGGTCCTTG -3'

Posted On

2019-05-15