Mutagenetix > Incidental Mutation

Incidental Mutation 'R6833:Poc1b'

534450

Institutional Source

Beutler Lab

Gene Symbol

Poc1b

Ensembl Gene

ENSMUSG00000019952

Gene Name

POC1 centriolar protein B

Synonyms

Wdr51b, 4933430F16Rik

MMRRC Submission

044942-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98942918-99033936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99028666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 336 (A336V)

Ref Sequence

ENSEMBL: ENSMUSP00000125423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020113] [ENSMUST00000159043] [ENSMUST00000159228] [ENSMUST00000159990] [ENSMUST00000219884]

AlphaFold

Q8BHD1

Predicted Effect

probably benign
Transcript: ENSMUST00000020113
AA Change: A378V

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952
AA Change: A378V

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	428	468	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159043

SMART Domains

Protein: ENSMUSP00000123719
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	2	38	5.95e-7	SMART
Blast:WD40	41	75	9e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000159228
AA Change: A351V

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952
AA Change: A351V

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	401	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159990
AA Change: A336V

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952
AA Change: A336V

Domain	Start	End	E-Value	Type
WD40	7	46	8.68e-9	SMART
WD40	49	88	2.71e-10	SMART
WD40	91	130	2.43e-12	SMART
WD40	133	172	2.07e-6	SMART
WD40	175	214	1.71e-7	SMART
WD40	217	256	7.55e-9	SMART
coiled coil region	386	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219884

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

96% (54/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,658,733 (GRCm39)	W215R	probably damaging	Het
Aco1	A	G	4: 40,164,747 (GRCm39)	K79R	probably benign	Het
Adam28	C	T	14: 68,855,576 (GRCm39)	A630T	probably benign	Het
Alpk2	T	C	18: 65,439,480 (GRCm39)	K1105E	probably benign	Het
Angptl1	A	T	1: 156,672,263 (GRCm39)	I30L	probably benign	Het
Astn1	A	T	1: 158,491,692 (GRCm39)	Q47L	probably benign	Het
Atf6b	T	C	17: 34,868,131 (GRCm39)	S135P	probably damaging	Het
Ccdc122	G	T	14: 77,326,371 (GRCm39)		probably benign	Het
Cers3	T	C	7: 66,429,419 (GRCm39)		probably null	Het
Dcaf10	T	C	4: 45,373,043 (GRCm39)	C95R	probably damaging	Het
Dcxr	A	G	11: 120,616,917 (GRCm39)	Y149H	probably damaging	Het
Dmxl1	A	T	18: 50,088,890 (GRCm39)	I2790F	probably damaging	Het
Dnhd1	T	A	7: 105,352,580 (GRCm39)	C2578S	probably benign	Het
Dnttip2	T	C	3: 122,070,452 (GRCm39)	S556P	probably damaging	Het
Efr3a	T	G	15: 65,714,535 (GRCm39)	V301G	probably damaging	Het
Eml5	A	T	12: 98,853,283 (GRCm39)	H105Q	probably damaging	Het
Enpp3	T	A	10: 24,685,768 (GRCm39)	H44L	probably damaging	Het
Fam120a	A	G	13: 49,087,517 (GRCm39)	V281A	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Ferd3l	G	A	12: 33,978,537 (GRCm39)	V17I	probably damaging	Het
Glb1l	A	G	1: 75,178,397 (GRCm39)	V347A	possibly damaging	Het
Gm4846	A	T	1: 166,322,147 (GRCm39)	I140N	possibly damaging	Het
Gm9195	T	C	14: 72,671,856 (GRCm39)	T2586A	possibly damaging	Het
Hsd17b8	T	C	17: 34,246,191 (GRCm39)	S161G	probably damaging	Het
Hsp90ab1	T	C	17: 45,881,393 (GRCm39)	I250V	probably benign	Het
Il11ra1	A	G	4: 41,765,454 (GRCm39)	H183R	probably benign	Het
Lama3	G	A	18: 12,624,605 (GRCm39)	C1450Y	probably damaging	Het
Lgals7	G	A	7: 28,565,087 (GRCm39)	R75Q	probably damaging	Het
Lpcat3	A	G	6: 124,676,974 (GRCm39)	Y124C	probably damaging	Het
Lrrc8a	T	A	2: 30,145,659 (GRCm39)	S158T	possibly damaging	Het
Mcm3	A	T	1: 20,880,320 (GRCm39)	M504K	possibly damaging	Het
Mro	G	T	18: 73,997,003 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,955,773 (GRCm39)		probably null	Het
Myh14	T	A	7: 44,273,803 (GRCm39)	K1356*	probably null	Het
Myo5b	A	C	18: 74,903,396 (GRCm39)	Q1804P	probably benign	Het
Nol10	A	G	12: 17,402,728 (GRCm39)	I67V	probably benign	Het
Pam	T	A	1: 97,765,717 (GRCm39)	I771F	probably damaging	Het
Pcdhgb8	G	T	18: 37,895,142 (GRCm39)	A71S	probably benign	Het
Pmfbp1	T	C	8: 110,265,307 (GRCm39)		probably null	Het
Poglut3	A	G	9: 53,303,308 (GRCm39)	I67V	possibly damaging	Het
Prap1	C	A	7: 139,674,995 (GRCm39)	A20E	possibly damaging	Het
Prox1	G	A	1: 189,892,975 (GRCm39)	A490V	probably damaging	Het
Prss39	G	T	1: 34,537,697 (GRCm39)	V54F	possibly damaging	Het
Sema3b	T	A	9: 107,480,515 (GRCm39)	E144V	probably benign	Het
Sft2d1	C	T	17: 8,537,707 (GRCm39)	T32I	possibly damaging	Het
Smpd2	C	T	10: 41,364,442 (GRCm39)	A160T	probably damaging	Het
Stard9	G	T	2: 120,531,740 (GRCm39)	V2666F	probably damaging	Het
Syt7	T	A	19: 10,421,508 (GRCm39)	M400K	probably damaging	Het
Thoc5	T	C	11: 4,869,804 (GRCm39)	L402P	probably damaging	Het
Tinf2	A	T	14: 55,919,037 (GRCm39)	M1K	probably null	Het
Ttc21a	A	G	9: 119,771,701 (GRCm39)	I167V	probably benign	Het
Vldlr	T	C	19: 27,217,974 (GRCm39)	L474P	probably damaging	Het
Xirp2	T	C	2: 67,340,294 (GRCm39)	V845A	probably benign	Het
Zdhhc7	A	T	8: 120,811,663 (GRCm39)	M180K	probably damaging	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	probably damaging	Het

Other mutations in Poc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Poc1b	APN	10	98,965,514 (GRCm39)	missense	probably benign	0.29
IGL01314:Poc1b	APN	10	98,965,503 (GRCm39)	missense	probably damaging	1.00
IGL02503:Poc1b	APN	10	98,980,210 (GRCm39)	splice site	probably benign
IGL02839:Poc1b	APN	10	98,980,460 (GRCm39)	splice site	probably benign
IGL02966:Poc1b	APN	10	98,980,176 (GRCm39)	missense	probably damaging	1.00
R0708:Poc1b	UTSW	10	98,990,992 (GRCm39)	missense	probably null	0.99
R0723:Poc1b	UTSW	10	98,965,457 (GRCm39)	missense	probably damaging	1.00
R1423:Poc1b	UTSW	10	98,988,725 (GRCm39)	missense	probably damaging	1.00
R4383:Poc1b	UTSW	10	98,992,161 (GRCm39)	missense	probably damaging	1.00
R4426:Poc1b	UTSW	10	98,991,001 (GRCm39)	critical splice donor site	probably null
R4427:Poc1b	UTSW	10	98,991,001 (GRCm39)	critical splice donor site	probably null
R5076:Poc1b	UTSW	10	98,943,703 (GRCm39)	missense	probably damaging	0.98
R6355:Poc1b	UTSW	10	98,965,436 (GRCm39)	missense	probably damaging	1.00
R6731:Poc1b	UTSW	10	98,988,733 (GRCm39)	missense	probably null	1.00
R6834:Poc1b	UTSW	10	99,028,666 (GRCm39)	missense	probably benign	0.16
R7184:Poc1b	UTSW	10	98,970,199 (GRCm39)	missense	probably benign	0.01
R7794:Poc1b	UTSW	10	98,965,460 (GRCm39)	missense	possibly damaging	0.67
R7982:Poc1b	UTSW	10	99,000,764 (GRCm39)	missense	probably benign	0.28
R8172:Poc1b	UTSW	10	98,980,338 (GRCm39)	splice site	probably null
R8182:Poc1b	UTSW	10	98,991,005 (GRCm39)	splice site	probably null
R8544:Poc1b	UTSW	10	98,960,770 (GRCm39)	nonsense	probably null
R8679:Poc1b	UTSW	10	99,000,728 (GRCm39)	splice site	probably benign
R8772:Poc1b	UTSW	10	98,992,219 (GRCm39)	splice site	probably benign
R8931:Poc1b	UTSW	10	99,028,861 (GRCm39)	critical splice donor site	probably null
R9021:Poc1b	UTSW	10	98,980,183 (GRCm39)	missense	possibly damaging	0.50
R9761:Poc1b	UTSW	10	98,965,356 (GRCm39)	missense	probably benign	0.03
Z1177:Poc1b	UTSW	10	98,980,375 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCCCTCTCGCTCTGGTAG -3'
(R):5'- AATGTGCTCCAGTGCGTCAG -3'

Sequencing Primer
(F):5'- AAGTGCACTGTAGCTGTCTTCAGAC -3'
(R):5'- TCCAGTGCGTCAGCCACC -3'

Posted On

2018-09-12