Mutagenetix > Incidental Mutation

Incidental Mutation 'R1547:Capzb'

172257

Institutional Source

Beutler Lab

Gene Symbol

Capzb

Ensembl Gene

ENSMUSG00000028745

Gene Name

capping actin protein of muscle Z-line subunit beta

Synonyms

CPB2, Cappb1, CPbeta1, CPB1, CPbeta2, 1700120C01Rik

MMRRC Submission

039586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1547 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

138920210-139019129 bp(+) (GRCm39)

Type of Mutation

splice site (1 bp from exon)

DNA Base Change (assembly)

G to A at 138989409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030518] [ENSMUST00000030518] [ENSMUST00000042675] [ENSMUST00000042675] [ENSMUST00000102507] [ENSMUST00000102507] [ENSMUST00000102508] [ENSMUST00000102508] [ENSMUST00000131912] [ENSMUST00000131912] [ENSMUST00000138045] [ENSMUST00000138045] [ENSMUST00000145368] [ENSMUST00000145368]

AlphaFold

P47757

Predicted Effect

probably null
Transcript: ENSMUST00000030518

SMART Domains

Protein: ENSMUSP00000030518
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	35	269	6.2e-114	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000030518

SMART Domains

Protein: ENSMUSP00000030518
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	35	269	6.2e-114	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000042675

SMART Domains

Protein: ENSMUSP00000038011
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	1	228	4.7e-111	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000042675

SMART Domains

Protein: ENSMUSP00000038011
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	1	228	4.7e-111	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102507

SMART Domains

Protein: ENSMUSP00000099565
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	6	240	4.6e-114	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102507

SMART Domains

Protein: ENSMUSP00000099565
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	6	240	4.6e-114	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102508

SMART Domains

Protein: ENSMUSP00000099566
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	5	240	6.8e-115	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102508

SMART Domains

Protein: ENSMUSP00000099566
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	5	240	6.8e-115	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000131912

SMART Domains

Protein: ENSMUSP00000114973
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	5	113	1.5e-53	PFAM
low complexity region	115	126	N/A	INTRINSIC
Pfam:F_actin_cap_B	143	188	4.2e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000131912

SMART Domains

Protein: ENSMUSP00000114973
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	5	113	1.5e-53	PFAM
low complexity region	115	126	N/A	INTRINSIC
Pfam:F_actin_cap_B	143	188	4.2e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000138045

SMART Domains

Protein: ENSMUSP00000122077
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	1	204	9.8e-97	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000138045

SMART Domains

Protein: ENSMUSP00000122077
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	1	204	9.8e-97	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145368

SMART Domains

Protein: ENSMUSP00000119252
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	6	110	2.2e-53	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145368

SMART Domains

Protein: ENSMUSP00000119252
Gene: ENSMUSG00000028745

Domain	Start	End	E-Value	Type
Pfam:F_actin_cap_B	6	110	2.2e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150077

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the beta subunit of a highly conserved filamentous actin capping protein that binds the barbed end of filamentous actin to stabilize it and terminate elongation. Interaction of this protein with the barbed end of the actin filament occurs through binding of the amphipathic helix at the C-terminus to the hydrophobic cleft on the actin molecule. This gene is required for a variety of dynamic actin-mediated processes including organization of lamellipodia and filopodia, growth cone morphology and neurite outgrowth in hippocampal neurons, and asymmetric spindle migration and polar body extrusion during oocyte maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in the ear exhibit increased ABR threshold, absent DPOE, reduced vestibular function, head shaking and abnormal stereocilia length and width in the cochlea and utricle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	C	12: 21,403,958 (GRCm39)	V96G	probably damaging	Het
Adam5	G	T	8: 25,300,729 (GRCm39)	Q267K	probably benign	Het
Adamts6	A	G	13: 104,581,383 (GRCm39)	T833A	probably benign	Het
Ago4	C	T	4: 126,405,206 (GRCm39)	E456K	probably benign	Het
Anapc1	T	C	2: 128,459,476 (GRCm39)	Q1861R	probably benign	Het
Apob	A	T	12: 8,053,368 (GRCm39)	D1270V	probably benign	Het
Arb2a	T	C	13: 77,973,509 (GRCm39)		probably null	Het
Arhgef11	T	A	3: 87,602,709 (GRCm39)	I196N	possibly damaging	Het
Armh4	A	T	14: 50,010,953 (GRCm39)	D251E	probably benign	Het
Ccdc183	T	A	2: 25,499,362 (GRCm39)	T466S	probably benign	Het
Cd101	T	C	3: 100,926,267 (GRCm39)	T151A	possibly damaging	Het
Cdc42bpa	A	T	1: 179,902,209 (GRCm39)	I489F	probably damaging	Het
Cetn4	T	C	3: 37,363,600 (GRCm39)	K52R	possibly damaging	Het
Dock6	C	T	9: 21,725,884 (GRCm39)	E1440K	probably damaging	Het
Edem2	A	G	2: 155,564,436 (GRCm39)	F94L	probably damaging	Het
Elp1	C	A	4: 56,792,090 (GRCm39)	R226L	probably damaging	Het
Elp1	C	T	4: 56,798,810 (GRCm39)	V51M	probably damaging	Het
Entrep1	T	C	19: 23,957,065 (GRCm39)	D315G	probably damaging	Het
Etl4	T	C	2: 20,790,039 (GRCm39)	S881P	probably damaging	Het
Fat2	G	A	11: 55,143,081 (GRCm39)	P4256L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Kif19a	A	G	11: 114,677,398 (GRCm39)	E594G	probably benign	Het
Kifap3	A	G	1: 163,621,655 (GRCm39)	D101G	probably benign	Het
Klhl6	T	C	16: 19,784,832 (GRCm39)	D102G	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lamb2	A	G	9: 108,359,824 (GRCm39)	H388R	probably benign	Het
Lmna	T	C	3: 88,389,658 (GRCm39)	S656G	probably benign	Het
Map3k12	T	A	15: 102,412,287 (GRCm39)	I285F	probably damaging	Het
Map3k7	A	G	4: 31,991,796 (GRCm39)	I345V	probably benign	Het
Mcph1	A	G	8: 18,672,702 (GRCm39)	R111G	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,434 (GRCm39)	V95D	probably damaging	Het
Mogs	T	A	6: 83,093,006 (GRCm39)	M118K	possibly damaging	Het
Npy5r	T	C	8: 67,133,686 (GRCm39)	E369G	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,889 (GRCm39)	F52L	probably damaging	Het
Or10j3	T	A	1: 173,031,239 (GRCm39)	Y105*	probably null	Het
Or2t49	A	G	11: 58,392,651 (GRCm39)	S244P	probably damaging	Het
Or8b12b	A	C	9: 37,683,960 (GRCm39)	T2P	probably benign	Het
Pde7b	C	A	10: 20,310,340 (GRCm39)	L207F	probably damaging	Het
Pigo	A	G	4: 43,020,689 (GRCm39)	V751A	probably benign	Het
Polr2a	T	C	11: 69,625,381 (GRCm39)	Y1923C	probably benign	Het
Prokr2	T	C	2: 132,215,522 (GRCm39)	Y152C	probably damaging	Het
Rab40c	A	G	17: 26,102,724 (GRCm39)	S223P	probably damaging	Het
Recql4	A	C	15: 76,590,511 (GRCm39)	C658G	probably damaging	Het
Sgca	T	C	11: 94,860,259 (GRCm39)	T46A	probably damaging	Het
Slc39a4	G	T	15: 76,498,347 (GRCm39)	C363*	probably null	Het
Snap25	A	T	2: 136,619,389 (GRCm39)	I181F	possibly damaging	Het
Snx32	T	A	19: 5,547,339 (GRCm39)	Q256L	possibly damaging	Het
Soat1	A	G	1: 156,267,331 (GRCm39)	V284A	probably damaging	Het
Sox6	G	A	7: 115,300,957 (GRCm39)	T170M	possibly damaging	Het
Spag16	G	T	1: 69,912,402 (GRCm39)	V246F	possibly damaging	Het
St6galnac6	T	C	2: 32,504,977 (GRCm39)	V141A	possibly damaging	Het
Sult2a7	T	A	7: 14,211,047 (GRCm39)		probably null	Het
Syngr3	A	T	17: 24,906,698 (GRCm39)	V39E	probably damaging	Het
Tango6	A	G	8: 107,508,418 (GRCm39)	T917A	probably damaging	Het
Tas1r1	A	G	4: 152,112,876 (GRCm39)	S726P	probably damaging	Het
Zeb1	C	T	18: 5,767,450 (GRCm39)	R654C	possibly damaging	Het

Other mutations in Capzb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Capzb	APN	4	139,016,258 (GRCm39)	missense	probably benign	0.00
IGL00885:Capzb	APN	4	139,014,361 (GRCm39)	missense	probably benign	0.00
R0612:Capzb	UTSW	4	139,018,340 (GRCm39)	missense	probably benign
R0729:Capzb	UTSW	4	139,016,288 (GRCm39)	unclassified	probably benign
R1731:Capzb	UTSW	4	139,007,341 (GRCm39)	missense	probably damaging	1.00
R1748:Capzb	UTSW	4	138,984,679 (GRCm39)	missense	probably damaging	1.00
R2234:Capzb	UTSW	4	138,989,334 (GRCm39)	missense	possibly damaging	0.80
R2424:Capzb	UTSW	4	138,921,441 (GRCm39)	start codon destroyed	probably null	0.01
R4799:Capzb	UTSW	4	138,920,310 (GRCm39)	utr 5 prime	probably benign
R5076:Capzb	UTSW	4	139,015,125 (GRCm39)	missense	possibly damaging	0.85
R5596:Capzb	UTSW	4	139,006,738 (GRCm39)	intron	probably benign
R6200:Capzb	UTSW	4	139,007,324 (GRCm39)	missense	probably benign	0.33
R7587:Capzb	UTSW	4	138,989,334 (GRCm39)	missense	possibly damaging	0.80
R7763:Capzb	UTSW	4	139,007,864 (GRCm39)	missense	probably benign
X0012:Capzb	UTSW	4	138,984,602 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GCGAATGGTAGCCTTGTTTTCCAC -3'
(R):5'- ACCTGCCACAACTGTCAATGGTAAC -3'

Sequencing Primer
(F):5'- AAAAGCCTCCTGGTGACTTG -3'
(R):5'- TCAATGGTAACAGAGTAACATGGTC -3'

Posted On

2014-04-13