Mutagenetix > Incidental Mutation

Incidental Mutation 'R4577:Cep170b'

342573

Institutional Source

Beutler Lab

Gene Symbol

Cep170b

Ensembl Gene

ENSMUSG00000072825

Gene Name

centrosomal protein 170B

Synonyms

AW555464

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.601) question?

Stock #

R4577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112687950-112713026 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112711152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 595 (R595G)

Ref Sequence

ENSEMBL: ENSMUSP00000089930 (fasta)

Gene Model

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

AlphaFold

Q80U49

Predicted Effect

probably damaging
Transcript: ENSMUST00000092279
AA Change: R595G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089930
Gene: ENSMUSG00000072825
AA Change: R595G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101018
AA Change: R1511G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: R1511G

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

possibly damaging
Transcript: ENSMUST00000179041
AA Change: R1511G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: R1511G

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 damaging
Transcript: ENSMUST00000220627
AA Change: R1476G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222532

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222711
AA Change: R1511G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222612

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,430,323 (GRCm39)	I222S	probably damaging	Het
Abca1	C	A	4: 53,062,568 (GRCm39)	C1429F	possibly damaging	Het
Acacb	A	G	5: 114,364,892 (GRCm39)	E1524G	probably damaging	Het
Ankrd50	A	G	3: 38,510,090 (GRCm39)	V759A	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Bnip2	A	G	9: 69,904,444 (GRCm39)	D67G	probably benign	Het
Cacna1e	A	T	1: 154,277,773 (GRCm39)	S2060T	possibly damaging	Het
Cand2	G	A	6: 115,768,220 (GRCm39)	C455Y	probably damaging	Het
Cdh16	T	C	8: 105,345,191 (GRCm39)	D366G	probably damaging	Het
Chaf1a	G	A	17: 56,372,184 (GRCm39)	R784Q	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clca4a	C	A	3: 144,660,730 (GRCm39)	S698I	probably damaging	Het
Dnah5	A	C	15: 28,289,396 (GRCm39)	Y1195S	probably benign	Het
Dynlt4	A	G	4: 116,985,812 (GRCm39)	T212A	possibly damaging	Het
Dysf	T	C	6: 84,114,308 (GRCm39)	I1229T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
F3	A	G	3: 121,527,763 (GRCm39)	I254V	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Fsd1l	T	C	4: 53,686,397 (GRCm39)	F270S	probably damaging	Het
Galnt3	T	C	2: 65,928,203 (GRCm39)	Y231C	probably benign	Het
Gm10220	A	C	5: 26,322,869 (GRCm39)	I181S	probably benign	Het
Gnb5	G	A	9: 75,250,823 (GRCm39)	V316I	possibly damaging	Het
Gys2	A	G	6: 142,400,236 (GRCm39)	F325S	possibly damaging	Het
Hmgn2	G	A	4: 133,694,668 (GRCm39)		probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighg2b	T	C	12: 113,270,512 (GRCm39)	E206G	unknown	Het
Iqub	A	T	6: 24,501,290 (GRCm39)	I220N	probably damaging	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Kcnq3	T	C	15: 66,158,063 (GRCm39)	K4R	unknown	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
L3mbtl2	G	A	15: 81,570,486 (GRCm39)	E655K	probably benign	Het
Lrp1b	C	T	2: 40,711,731 (GRCm39)	C3163Y	probably damaging	Het
Map3k19	T	A	1: 127,750,550 (GRCm39)	R934*	probably null	Het
Map4	A	G	9: 109,910,489 (GRCm39)	T1061A	possibly damaging	Het
Mbnl1	G	A	3: 60,437,199 (GRCm39)	V50I	probably damaging	Het
Med15	G	A	16: 17,492,379 (GRCm39)	Q132*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mtmr3	G	C	11: 4,447,375 (GRCm39)	L361V	probably damaging	Het
Myo5a	A	G	9: 75,124,827 (GRCm39)	E1792G	probably damaging	Het
Nup88	C	A	11: 70,860,543 (GRCm39)	A55S	probably damaging	Het
Or1ab2	T	A	8: 72,864,167 (GRCm39)	Y252*	probably null	Het
Or4a79	T	C	2: 89,552,387 (GRCm39)	K23E	possibly damaging	Het
Pacs1	G	T	19: 5,193,861 (GRCm39)	S556*	probably null	Het
Parp4	A	G	14: 56,827,867 (GRCm39)	E206G	probably benign	Het
Paxbp1	T	G	16: 90,812,042 (GRCm39)	K889N	probably damaging	Het
Pcdhga2	G	A	18: 37,802,302 (GRCm39)	A49T	possibly damaging	Het
Pcsk6	T	A	7: 65,609,014 (GRCm39)	L292*	probably null	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Plec	C	A	15: 76,068,269 (GRCm39)	Q1142H	possibly damaging	Het
Pnpla2	T	C	7: 141,037,257 (GRCm39)	S87P	probably damaging	Het
Prss28	T	C	17: 25,529,079 (GRCm39)	V140A	probably damaging	Het
Rad17	A	T	13: 100,769,786 (GRCm39)	S258T	probably damaging	Het
Rnf111	A	T	9: 70,336,866 (GRCm39)	C932*	probably null	Het
Sdc2	T	C	15: 33,017,278 (GRCm39)	Y31H	probably damaging	Het
Selenoh	T	C	2: 84,500,675 (GRCm39)	E55G	possibly damaging	Het
Serpina3k	T	G	12: 104,310,451 (GRCm39)	V327G	possibly damaging	Het
Setd1b	A	G	5: 123,286,679 (GRCm39)	E575G	unknown	Het
Slco1a4	A	T	6: 141,765,266 (GRCm39)	S325R	probably damaging	Het
Smtnl1	C	A	2: 84,648,787 (GRCm39)	V156L	possibly damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Speg	A	G	1: 75,392,039 (GRCm39)	D1607G	probably damaging	Het
Tmem101	T	A	11: 102,046,663 (GRCm39)	M69L	possibly damaging	Het
Treh	G	A	9: 44,597,208 (GRCm39)	M542I	probably benign	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Ttc6	T	C	12: 57,623,441 (GRCm39)	I280T	probably benign	Het
Ubtfl1	A	G	9: 18,320,789 (GRCm39)	T106A	probably damaging	Het
Wdr27	T	C	17: 15,123,724 (GRCm39)	H583R	probably benign	Het
Xirp2	C	T	2: 67,344,241 (GRCm39)	P2161S	probably damaging	Het

Other mutations in Cep170b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Cep170b	APN	12	112,701,628 (GRCm39)	missense	probably damaging	1.00
IGL01313:Cep170b	APN	12	112,702,086 (GRCm39)	missense	probably damaging	1.00
IGL01317:Cep170b	APN	12	112,704,078 (GRCm39)	missense	probably damaging	1.00
IGL01660:Cep170b	APN	12	112,710,594 (GRCm39)	missense	probably damaging	1.00
IGL02032:Cep170b	APN	12	112,703,767 (GRCm39)	critical splice donor site	probably null
IGL02505:Cep170b	APN	12	112,709,504 (GRCm39)	missense	probably damaging	1.00
IGL02966:Cep170b	APN	12	112,702,878 (GRCm39)	missense	possibly damaging	0.75
IGL03111:Cep170b	APN	12	112,701,613 (GRCm39)	missense	probably damaging	1.00
IGL03367:Cep170b	APN	12	112,703,672 (GRCm39)	missense	probably benign	0.00
R0348:Cep170b	UTSW	12	112,703,240 (GRCm39)	missense	probably damaging	1.00
R0562:Cep170b	UTSW	12	112,705,623 (GRCm39)	missense	probably benign	0.00
R0909:Cep170b	UTSW	12	112,698,473 (GRCm39)	missense	probably null	0.06
R1217:Cep170b	UTSW	12	112,707,339 (GRCm39)	missense	probably damaging	0.99
R1300:Cep170b	UTSW	12	112,703,691 (GRCm39)	missense	probably benign	0.02
R1647:Cep170b	UTSW	12	112,702,806 (GRCm39)	missense	probably damaging	1.00
R1648:Cep170b	UTSW	12	112,702,806 (GRCm39)	missense	probably damaging	1.00
R1652:Cep170b	UTSW	12	112,699,947 (GRCm39)	missense	probably damaging	0.99
R1737:Cep170b	UTSW	12	112,703,061 (GRCm39)	missense	possibly damaging	0.71
R1936:Cep170b	UTSW	12	112,702,172 (GRCm39)	missense	probably damaging	1.00
R1962:Cep170b	UTSW	12	112,704,495 (GRCm39)	missense	probably damaging	1.00
R2094:Cep170b	UTSW	12	112,702,164 (GRCm39)	missense	possibly damaging	0.90
R2208:Cep170b	UTSW	12	112,705,419 (GRCm39)	missense	probably benign	0.00
R3418:Cep170b	UTSW	12	112,704,902 (GRCm39)	nonsense	probably null
R3735:Cep170b	UTSW	12	112,707,438 (GRCm39)	missense	probably damaging	1.00
R3736:Cep170b	UTSW	12	112,707,438 (GRCm39)	missense	probably damaging	1.00
R4299:Cep170b	UTSW	12	112,705,739 (GRCm39)	missense	probably damaging	1.00
R5199:Cep170b	UTSW	12	112,710,581 (GRCm39)	missense	probably damaging	1.00
R5512:Cep170b	UTSW	12	112,699,919 (GRCm39)	missense	possibly damaging	0.86
R5575:Cep170b	UTSW	12	112,702,066 (GRCm39)	missense	probably damaging	1.00
R5643:Cep170b	UTSW	12	112,707,275 (GRCm39)	missense	probably benign	0.35
R6074:Cep170b	UTSW	12	112,710,589 (GRCm39)	missense	probably damaging	1.00
R6265:Cep170b	UTSW	12	112,710,993 (GRCm39)	missense	probably damaging	1.00
R6371:Cep170b	UTSW	12	112,707,379 (GRCm39)	missense	probably damaging	1.00
R6376:Cep170b	UTSW	12	112,698,502 (GRCm39)	missense	probably damaging	0.99
R7055:Cep170b	UTSW	12	112,702,149 (GRCm39)	missense	probably damaging	1.00
R7137:Cep170b	UTSW	12	112,701,601 (GRCm39)	missense	probably benign
R7226:Cep170b	UTSW	12	112,704,359 (GRCm39)	missense	possibly damaging	0.80
R7615:Cep170b	UTSW	12	112,711,099 (GRCm39)	missense	probably damaging	1.00
R7831:Cep170b	UTSW	12	112,711,234 (GRCm39)	missense	probably benign	0.08
R8178:Cep170b	UTSW	12	112,705,719 (GRCm39)	missense	possibly damaging	0.92
R8492:Cep170b	UTSW	12	112,711,134 (GRCm39)	missense	probably damaging	1.00
R8838:Cep170b	UTSW	12	112,710,159 (GRCm39)	missense	probably damaging	1.00
R8859:Cep170b	UTSW	12	112,702,881 (GRCm39)	missense	probably benign
R9573:Cep170b	UTSW	12	112,691,154 (GRCm39)	missense	probably damaging	1.00
R9643:Cep170b	UTSW	12	112,704,045 (GRCm39)	missense	probably damaging	1.00
R9694:Cep170b	UTSW	12	112,701,993 (GRCm39)	missense	probably damaging	1.00
R9778:Cep170b	UTSW	12	112,697,864 (GRCm39)	missense	possibly damaging	0.93
R9783:Cep170b	UTSW	12	112,711,118 (GRCm39)	missense	probably damaging	1.00
Z1176:Cep170b	UTSW	12	112,707,446 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGAAATCAGCTCCATCCTGAAG -3'
(R):5'- CGCCTCACAGCTTAGATCAG -3'

Sequencing Primer
(F):5'- AGGAACTTCGACGCGTAC -3'
(R):5'- CCTCTCAGCATCAGGAAGGAAG -3'

Posted On

2015-09-24