Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Cap1'

49357

Institutional Source

Beutler Lab

Gene Symbol

Cap1

Ensembl Gene

ENSMUSG00000028656

Gene Name

CAP, adenylate cyclase-associated protein 1 (yeast)

Synonyms

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R0534 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122859047-122886056 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122862719 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 340 (V340M)

Ref Sequence

ENSEMBL: ENSMUSP00000101864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030412] [ENSMUST00000069533] [ENSMUST00000106255] [ENSMUST00000106257] [ENSMUST00000120157] [ENSMUST00000128485]

AlphaFold

P40124

Predicted Effect

probably benign
Transcript: ENSMUST00000030412

SMART Domains

Protein: ENSMUSP00000030412
Gene: ENSMUSG00000028657

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Palm_thioest	28	306	3.6e-208	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069533
AA Change: V340M

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000068260
Gene: ENSMUSG00000028656
AA Change: V340M

Domain	Start	End	E-Value	Type
Pfam:CAP_N	4	304	1e-129	PFAM
CARP	355	392	2.09e-9	SMART
CARP	393	430	1.18e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106255
AA Change: V340M

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101862
Gene: ENSMUSG00000028656
AA Change: V340M

Domain	Start	End	E-Value	Type
Pfam:CAP_N	5	294	4.2e-116	PFAM
CARP	355	392	2.09e-9	SMART
CARP	393	430	1.18e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106257
AA Change: V340M

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101864
Gene: ENSMUSG00000028656
AA Change: V340M

Domain	Start	End	E-Value	Type
Pfam:CAP_N	4	304	1e-129	PFAM
CARP	355	392	2.09e-9	SMART
CARP	393	430	1.18e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120157

SMART Domains

Protein: ENSMUSP00000113258
Gene: ENSMUSG00000028657

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128485

SMART Domains

Protein: ENSMUSP00000114847
Gene: ENSMUSG00000028656

Domain	Start	End	E-Value	Type
Pfam:CAP_N	4	164	2.3e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150919

Meta Mutation Damage Score

0.1252

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

MGI Phenotype

FUNCTION: The product of this gene plays a role in regulating actin dynamics by binding actin monomers and promoting the turnover of actin filaments. Reduced expression of this gene causes a reduction in actin filament turnover rates, causing multiple defects, including an increase in cell size, stress-fiber alterations, and defects in endocytosis and cell motility. A pseudogene of this gene is found on chromosome 14. Alternative splicing results in multiple transcript variants, but does not affect the protein. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	T	C	10: 116,112,802	E273G	possibly damaging	Het
4933425L06Rik	C	A	13: 105,082,254	S32*	probably null	Het
Cand2	A	G	6: 115,787,236	M324V	probably damaging	Het
Ccdc110	T	C	8: 45,935,138	V44A	possibly damaging	Het
Cps1	A	G	1: 67,143,900	D139G	probably benign	Het
Cwc27	T	A	13: 104,631,616	E457V	unknown	Het
Cxxc1	C	T	18: 74,218,891	P280S	probably benign	Het
Dopey2	T	A	16: 93,762,505	L595Q	probably benign	Het
Dscam	G	T	16: 96,652,172	S1292R	possibly damaging	Het
E2f4	C	A	8: 105,304,219	F353L	probably damaging	Het
Ep300	A	G	15: 81,600,896		probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fign	T	A	2: 63,980,791	H45L	probably damaging	Het
Flcn	T	A	11: 59,794,199		probably benign	Het
Gm5141	A	T	13: 62,774,594	F254I	probably damaging	Het
Gpbp1l1	T	A	4: 116,591,268	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,824	C340*	probably null	Het
Gtf3c2	A	T	5: 31,158,132		probably benign	Het
Hcfc2	T	A	10: 82,738,408	F139I	probably damaging	Het
Hectd4	T	C	5: 121,348,476	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 45,337,235		probably benign	Het
Igf2bp1	A	G	11: 95,966,796		probably benign	Het
Igsf9b	T	G	9: 27,333,062		probably null	Het
Il23r	G	A	6: 67,426,588	A443V	probably benign	Het
Kcnv1	A	G	15: 45,109,249	F413L	probably damaging	Het
Lipe	C	A	7: 25,388,186	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,557,273	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,266,853	W13L	probably damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Npy1r	C	A	8: 66,705,018	Q327K	probably damaging	Het
Olfr64	C	T	7: 103,893,231	R168H	probably benign	Het
Osbpl10	C	T	9: 115,167,178	L139F	probably damaging	Het
P2rx6	A	C	16: 17,567,904	T199P	probably damaging	Het
Phyhip	A	T	14: 70,461,759	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,120,130	I342N	possibly damaging	Het
Reln	A	T	5: 21,947,408	D2353E	probably damaging	Het
Rmdn3	T	C	2: 119,146,370	E294G	probably benign	Het
Scnn1g	A	G	7: 121,767,424	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,428,568	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,425,280	S1345P	possibly damaging	Het
Soga3	T	A	10: 29,180,956		probably benign	Het
St5	A	T	7: 109,541,428	V197D	probably damaging	Het
Timp4	A	G	6: 115,249,841	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,224,887	L459Q	probably benign	Het
Tmem104	C	A	11: 115,200,828	T59K	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Zfp622	A	T	15: 25,984,568	I7F	possibly damaging	Het

Other mutations in Cap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Cap1	APN	4	122860187	missense	probably damaging	0.99
IGL02163:Cap1	APN	4	122862416	missense	probably benign	0.00
Twotones	UTSW	4	122867652	critical splice donor site	probably null
wingtips	UTSW	4	122867723	missense	probably damaging	0.97
R0115:Cap1	UTSW	4	122863075	missense	possibly damaging	0.94
R0119:Cap1	UTSW	4	122867699	missense	probably damaging	1.00
R0481:Cap1	UTSW	4	122863075	missense	possibly damaging	0.94
R0602:Cap1	UTSW	4	122872409	missense	probably damaging	1.00
R0846:Cap1	UTSW	4	122862899	critical splice donor site	probably null
R1311:Cap1	UTSW	4	122865214	missense	possibly damaging	0.89
R2027:Cap1	UTSW	4	122862893	unclassified	probably benign
R2446:Cap1	UTSW	4	122864608	missense	probably benign	0.22
R2860:Cap1	UTSW	4	122864725	missense	probably benign	0.01
R2861:Cap1	UTSW	4	122864725	missense	probably benign	0.01
R2862:Cap1	UTSW	4	122864725	missense	probably benign	0.01
R3690:Cap1	UTSW	4	122864626	missense	probably damaging	0.98
R3691:Cap1	UTSW	4	122864626	missense	probably damaging	0.98
R4089:Cap1	UTSW	4	122862409	missense	probably benign	0.05
R4362:Cap1	UTSW	4	122862987	missense	probably benign	0.00
R5511:Cap1	UTSW	4	122862790	unclassified	probably benign
R6252:Cap1	UTSW	4	122872400	missense	probably benign	0.37
R7001:Cap1	UTSW	4	122864615	missense	probably benign	0.12
R7709:Cap1	UTSW	4	122862674	missense	probably damaging	1.00
R8913:Cap1	UTSW	4	122867652	critical splice donor site	probably null
R9121:Cap1	UTSW	4	122867723	missense	probably damaging	0.97
R9281:Cap1	UTSW	4	122872433	missense	probably benign	0.02
R9563:Cap1	UTSW	4	122864712	missense	probably benign
R9565:Cap1	UTSW	4	122864712	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCCCTTAAAGAGCCAACTTCTGCC -3'
(R):5'- GTGAGTTAAAGCAGCCTGACTCCG -3'

Sequencing Primer
(F):5'- TGGAGAATCAGATTCCTGCC -3'
(R):5'- TGACTCCGGGAAGGGAC -3'

Posted On

2013-06-12