Mutagenetix > Incidental Mutation

Incidental Mutation 'R2337:Poc5'

246599

Institutional Source

Beutler Lab

Gene Symbol

Poc5

Ensembl Gene

ENSMUSG00000021671

Gene Name

POC5 centriolar protein

Synonyms

1200014M14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2337 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96524767-96553719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96547111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 458 (V458A)

Ref Sequence

ENSEMBL: ENSMUSP00000096898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099295]

AlphaFold

Q9DBS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000099295
AA Change: V458A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096898
Gene: ENSMUSG00000021671
AA Change: V458A

Domain	Start	End	E-Value	Type
coiled coil region	175	206	N/A	INTRINSIC
coiled coil region	300	341	N/A	INTRINSIC
low complexity region	370	382	N/A	INTRINSIC
low complexity region	418	433	N/A	INTRINSIC
low complexity region	436	456	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223478

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
9930111J21Rik2	T	C	11: 48,911,131 (GRCm39)	N434S	probably benign	Het
Acaca	T	C	11: 84,148,023 (GRCm39)	S691P	possibly damaging	Het
Arid5b	T	C	10: 67,933,607 (GRCm39)	D765G	possibly damaging	Het
Ccdc14	A	G	16: 34,525,388 (GRCm39)	H179R	probably benign	Het
Ccdc177	C	T	12: 80,805,465 (GRCm39)	A270T	unknown	Het
Cdh16	G	T	8: 105,348,902 (GRCm39)	T65K	probably benign	Het
Dag1	G	T	9: 108,084,596 (GRCm39)	Y848*	probably null	Het
Dnhd1	C	T	7: 105,352,674 (GRCm39)	T2609I	probably benign	Het
Eif1ad5	T	A	12: 87,946,948 (GRCm39)	V130E	unknown	Het
Fat4	A	G	3: 39,034,160 (GRCm39)	Y2604C	probably damaging	Het
Fhad1	T	C	4: 141,649,655 (GRCm39)	D164G	possibly damaging	Het
Fnip1	G	A	11: 54,366,563 (GRCm39)	D109N	probably damaging	Het
Gfm1	A	G	3: 67,342,847 (GRCm39)	D127G	probably damaging	Het
Gsap	T	A	5: 21,493,628 (GRCm39)	I755N	probably damaging	Het
Hdgfl2	T	C	17: 56,403,987 (GRCm39)	V281A	possibly damaging	Het
Hmg20b	T	C	10: 81,184,347 (GRCm39)	E50G	probably damaging	Het
Myo5a	A	G	9: 75,111,083 (GRCm39)	D1498G	probably damaging	Het
Tada2b	T	C	5: 36,634,258 (GRCm39)	M107V	probably benign	Het
Tle6	T	C	10: 81,428,490 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Xkr7	G	A	2: 152,896,318 (GRCm39)	V391M	possibly damaging	Het

Other mutations in Poc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Poc5	APN	13	96,547,254 (GRCm39)	missense	probably damaging	1.00
IGL01377:Poc5	APN	13	96,538,139 (GRCm39)	missense	probably benign	0.35
IGL02981:Poc5	APN	13	96,538,265 (GRCm39)	critical splice donor site	probably null
IGL03031:Poc5	APN	13	96,538,123 (GRCm39)	missense	probably benign	0.00
R0348:Poc5	UTSW	13	96,535,374 (GRCm39)	missense	probably null	1.00
R1533:Poc5	UTSW	13	96,528,152 (GRCm39)	missense	probably damaging	0.96
R1881:Poc5	UTSW	13	96,535,239 (GRCm39)	missense	probably benign	0.21
R2171:Poc5	UTSW	13	96,547,257 (GRCm39)	missense	probably damaging	1.00
R3419:Poc5	UTSW	13	96,540,925 (GRCm39)	missense	possibly damaging	0.88
R3736:Poc5	UTSW	13	96,533,324 (GRCm39)	missense	probably damaging	1.00
R4554:Poc5	UTSW	13	96,539,529 (GRCm39)	missense	probably benign	0.40
R5223:Poc5	UTSW	13	96,539,463 (GRCm39)	missense	probably benign	0.20
R5436:Poc5	UTSW	13	96,533,321 (GRCm39)	missense	probably damaging	1.00
R6089:Poc5	UTSW	13	96,533,179 (GRCm39)	missense	probably damaging	1.00
R6700:Poc5	UTSW	13	96,531,003 (GRCm39)	missense	probably benign	0.00
R7345:Poc5	UTSW	13	96,533,304 (GRCm39)	missense	probably damaging	1.00
R7354:Poc5	UTSW	13	96,531,033 (GRCm39)	missense	probably benign	0.02
R7363:Poc5	UTSW	13	96,540,925 (GRCm39)	missense	possibly damaging	0.88
R7454:Poc5	UTSW	13	96,537,340 (GRCm39)	missense	possibly damaging	0.93
R7773:Poc5	UTSW	13	96,547,143 (GRCm39)	missense	probably damaging	1.00
R7786:Poc5	UTSW	13	96,541,027 (GRCm39)	missense	possibly damaging	0.55
R7953:Poc5	UTSW	13	96,539,408 (GRCm39)	missense	probably benign	0.27
R8850:Poc5	UTSW	13	96,535,228 (GRCm39)	missense	possibly damaging	0.94
R9423:Poc5	UTSW	13	96,547,114 (GRCm39)	missense	probably damaging	1.00
R9723:Poc5	UTSW	13	96,551,026 (GRCm39)	missense	probably benign	0.00
X0019:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0024:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0034:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0035:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0036:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0037:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0038:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0039:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0040:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0052:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0053:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0054:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0058:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0060:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0061:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0062:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
X0063:Poc5	UTSW	13	96,531,056 (GRCm39)	frame shift	probably null
Z1176:Poc5	UTSW	13	96,538,230 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TGGCATGCCCAGGTTAAAG -3'
(R):5'- AATGACCGACCATGACTGTCAG -3'

Sequencing Primer
(F):5'- GCCCAGGTTAAAGAAATATTTTGGAG -3'
(R):5'- TTGACAAGTGGCAGACTTCC -3'

Posted On

2014-10-30