Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02159:Capza1'

282377

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Capza1

Ensembl Gene

ENSMUSG00000070372

Gene Name

capping actin protein of muscle Z-line subunit alpha 1

Synonyms

Cappa1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

IGL02159

Quality Score

Status

Chromosome

Chromosomal Location

104730097-104771821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104771687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 3 (D3G)

Ref Sequence

ENSEMBL: ENSMUSP00000142606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059271] [ENSMUST00000094028] [ENSMUST00000106769] [ENSMUST00000123876] [ENSMUST00000183914] [ENSMUST00000195912] [ENSMUST00000200132]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059271

SMART Domains

Protein: ENSMUSP00000058455
Gene: ENSMUSG00000045576

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
Pfam:ST7	41	559	1.6e-292	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094028
AA Change: D3G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102381
Gene: ENSMUSG00000070372
AA Change: D3G

Domain	Start	End	E-Value	Type
Pfam:F-actin_cap_A	14	282	3.1e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106769

SMART Domains

Protein: ENSMUSP00000102380
Gene: ENSMUSG00000045576

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
Pfam:ST7	41	420	8.2e-209	PFAM
Pfam:ST7	419	527	1.4e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123876

SMART Domains

Protein: ENSMUSP00000138577
Gene: ENSMUSG00000045576

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
Pfam:ST7	41	282	6.7e-96	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155476

Predicted Effect

probably benign
Transcript: ENSMUST00000183914

SMART Domains

Protein: ENSMUSP00000139266
Gene: ENSMUSG00000045576

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
low complexity region	107	120	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195912
AA Change: D3G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142606
Gene: ENSMUSG00000070372
AA Change: D3G

Domain	Start	End	E-Value	Type
Pfam:F-actin_cap_A	12	75	2.7e-16	PFAM
Pfam:F-actin_cap_A	72	113	1.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199186

Predicted Effect

probably benign
Transcript: ENSMUST00000200132

SMART Domains

Protein: ENSMUSP00000143759
Gene: ENSMUSG00000045576

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
Pfam:ST7	41	212	2.7e-81	PFAM
Pfam:ST7	209	481	1.3e-167	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,446,527 (GRCm39)	L257S	probably damaging	Het
Abca13	A	G	11: 9,264,545 (GRCm39)	S2976G	probably benign	Het
Afmid	T	C	11: 117,727,252 (GRCm39)	W267R	probably damaging	Het
Ahi1	A	G	10: 20,934,076 (GRCm39)	K969R	probably benign	Het
Aldh1l1	A	G	6: 90,571,638 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,644,722 (GRCm39)	H62R	probably damaging	Het
Arid2	T	C	15: 96,256,793 (GRCm39)		probably benign	Het
Caps2	G	A	10: 112,039,928 (GRCm39)	V457M	probably benign	Het
Cav1	T	A	6: 17,307,971 (GRCm39)	V41E	possibly damaging	Het
Celf2	G	T	2: 6,608,988 (GRCm39)	C264*	probably null	Het
Clec4a2	C	T	6: 123,116,285 (GRCm39)	S150L	probably benign	Het
D7Ertd443e	A	T	7: 133,951,129 (GRCm39)	D181E	possibly damaging	Het
Epyc	A	G	10: 97,506,493 (GRCm39)	E100G	probably benign	Het
Hdac11	A	G	6: 91,150,084 (GRCm39)	I294M	probably damaging	Het
Hrob	G	A	11: 102,150,991 (GRCm39)		probably null	Het
Hsdl1	A	G	8: 120,293,153 (GRCm39)	V73A	probably benign	Het
Kmt2c	A	T	5: 25,516,341 (GRCm39)	S2501T	probably benign	Het
Lrrc41	T	A	4: 115,945,683 (GRCm39)	F133I	probably benign	Het
Map3k19	C	A	1: 127,750,907 (GRCm39)	G815C	probably benign	Het
Muc13	C	A	16: 33,619,849 (GRCm39)	T199K	unknown	Het
Nif3l1	G	T	1: 58,487,105 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,298,175 (GRCm39)		probably benign	Het
Nup205	T	C	6: 35,166,113 (GRCm39)	S244P	probably damaging	Het
Or7a37	A	T	10: 78,805,735 (GRCm39)	N84I	probably damaging	Het
Parl	G	A	16: 20,098,838 (GRCm39)		probably benign	Het
Pax8	A	G	2: 24,330,800 (GRCm39)	I211T	possibly damaging	Het
Pglyrp4	A	G	3: 90,638,160 (GRCm39)	E158G	possibly damaging	Het
Plekhm1	A	G	11: 103,271,057 (GRCm39)	L478P	probably benign	Het
Prss3b	T	C	6: 41,009,891 (GRCm39)	T148A	probably benign	Het
Serpina1a	C	T	12: 103,820,965 (GRCm39)	G338R	probably damaging	Het
Serpina5	T	C	12: 104,071,557 (GRCm39)	L388P	possibly damaging	Het
Sorbs1	A	G	19: 40,316,040 (GRCm39)	V367A	probably damaging	Het
Srgap2	A	G	1: 131,247,404 (GRCm39)		probably benign	Het
Surf1	A	G	2: 26,805,663 (GRCm39)	L26P	probably damaging	Het
Taf4	A	G	2: 179,580,263 (GRCm39)	S486P	probably benign	Het
Tdrd6	A	T	17: 43,939,281 (GRCm39)	V589E	probably damaging	Het
Tuba3b	T	G	6: 145,565,392 (GRCm39)	S287A	probably benign	Het
Txnrd3	G	A	6: 89,646,306 (GRCm39)	R295H	probably damaging	Het
Ubr5	G	T	15: 37,991,623 (GRCm39)		probably benign	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Usp32	A	G	11: 84,896,628 (GRCm39)		probably null	Het
Utp23	G	A	15: 51,745,761 (GRCm39)	R87K	probably benign	Het
Vps8	T	C	16: 21,285,234 (GRCm39)	I405T	possibly damaging	Het

Other mutations in Capza1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
yarmulke	UTSW	3	104,748,209 (GRCm39)	critical splice acceptor site	probably null
R1678:Capza1	UTSW	3	104,771,669 (GRCm39)	nonsense	probably null
R1887:Capza1	UTSW	3	104,747,096 (GRCm39)	critical splice donor site	probably null
R4059:Capza1	UTSW	3	104,732,427 (GRCm39)	missense	probably damaging	0.98
R4650:Capza1	UTSW	3	104,752,296 (GRCm39)	missense	probably damaging	1.00
R5030:Capza1	UTSW	3	104,748,154 (GRCm39)	missense	probably damaging	1.00
R6666:Capza1	UTSW	3	104,735,922 (GRCm39)	splice site	probably null
R7293:Capza1	UTSW	3	104,748,151 (GRCm39)	missense	probably benign
R7748:Capza1	UTSW	3	104,732,721 (GRCm39)	critical splice donor site	probably null
R8933:Capza1	UTSW	3	104,748,209 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-04-16