Mutagenetix > Incidental Mutations

Incidental Mutation 'R7001:Cap1'

544534

Institutional Source

Beutler Lab

Gene Symbol

Cap1

Ensembl Gene

ENSMUSG00000028656

Gene Name

CAP, adenylate cyclase-associated protein 1 (yeast)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

R7001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122859047-122886056 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122864615 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 257 (F257L)

Ref Sequence

ENSEMBL: ENSMUSP00000101864 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069533
AA Change: F257L

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068260
Gene: ENSMUSG00000028656
AA Change: F257L

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: F257L

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101862
Gene: ENSMUSG00000028656
AA Change: F257L

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: F257L

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101864
Gene: ENSMUSG00000028656
AA Change: F257L

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: ENSMUST00000128485

SMART Domains

Protein: ENSMUSP00000114847
Gene: ENSMUSG00000028656

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 138,065,511	Q154K	probably benign	Het
Aldh6a1	T	G	12: 84,441,888	T75P	probably damaging	Het
Ank2	T	A	3: 127,077,581	H98L	probably damaging	Het
Ankib1	A	G	5: 3,694,781	F800S	probably benign	Het
Arhgap10	A	T	8: 77,365,088	M434K	possibly damaging	Het
Cdt1	T	A	8: 122,572,510	H510Q	probably damaging	Het
Clca3b	A	C	3: 144,827,972	D547E	possibly damaging	Het
Col24a1	T	C	3: 145,298,866	V35A	probably benign	Het
Cyp2j13	A	T	4: 96,056,875	N305K	probably damaging	Het
D3Ertd751e	T	A	3: 41,758,409		probably null	Het
D6Ertd527e	G	A	6: 87,111,212	G119D	unknown	Het
Ddc	T	C	11: 11,824,870		probably null	Het
Dnah12	A	T	14: 26,879,724	Y3713F	probably damaging	Het
Dock8	T	A	19: 25,099,677	S504T	probably benign	Het
Farp2	T	C	1: 93,620,184	F941L	possibly damaging	Het
Farp2	A	G	1: 93,620,230	N956S	possibly damaging	Het
Fbxo3	T	A	2: 104,051,224	H300Q	probably damaging	Het
Fcgrt	T	C	7: 45,102,042	T131A	probably benign	Het
Fndc7	G	A	3: 108,876,648	A215V	probably benign	Het
Frem1	T	C	4: 82,986,561	E890G	probably benign	Het
Fsip2	C	A	2: 82,986,925	P4334H	probably damaging	Het
Gcdh	C	A	8: 84,890,911	V227L	probably benign	Het
Gm8267	A	C	14: 44,722,928	M120R	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Lasp1	T	G	11: 97,806,833	H26Q	probably damaging	Het
Lrrcc1	T	A	3: 14,540,095	I297N	probably damaging	Het
Map1b	A	T	13: 99,430,593	N1873K	unknown	Het
Map2	A	G	1: 66,415,487	I1179V	probably benign	Het
Mtss1	A	C	15: 58,948,334		probably benign	Het
Mtus2	A	G	5: 148,277,628	E28G	probably damaging	Het
Muc6	G	A	7: 141,637,407	T2386I	probably damaging	Het
Myo3a	G	T	2: 22,332,377	V362L	probably benign	Het
N6amt1	G	A	16: 87,354,292	V14M	probably benign	Het
Nav1	A	T	1: 135,454,611		probably null	Het
Nol6	A	G	4: 41,121,279	S326P	probably benign	Het
Olfr1084	A	T	2: 86,639,151	S186T	probably benign	Het
Olfr599	A	G	7: 103,338,221	S56G	possibly damaging	Het
Olr1	T	A	6: 129,488,111	E100V	probably damaging	Het
Otop3	T	C	11: 115,339,653	Y119H	probably damaging	Het
Prpmp5	C	T	6: 132,312,564	G99E	unknown	Het
Ryr2	A	T	13: 11,794,605	M778K	probably damaging	Het
Serpina3n	G	T	12: 104,408,925	M85I	probably benign	Het
Serpine2	A	G	1: 79,795,031	F390L	probably damaging	Het
Sf3b1	A	G	1: 55,001,046	V591A	probably damaging	Het
Sf3b1	A	G	1: 55,014,481		probably null	Het
Slc26a5	C	T	5: 21,811,336	V646I	probably damaging	Het
Slitrk3	T	A	3: 73,050,609	K277*	probably null	Het
Sv2c	A	G	13: 95,981,953	S463P	probably benign	Het
Tbc1d4	G	A	14: 101,458,749	T858M	probably benign	Het
Tbx18	T	A	9: 87,727,404	I193F	probably damaging	Het
Tm6sf2	A	C	8: 70,078,332	D245A	probably damaging	Het
Unc119	T	C	11: 78,348,554	Y234H	probably damaging	Het
Wrn	A	T	8: 33,352,129	S46T	probably benign	Het
Zfp729a	A	T	13: 67,620,349	I587K	probably benign	Het
Zfp872	C	A	9: 22,200,616	H464N	probably 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
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
R0534:Cap1	UTSW	4	122862719	missense	probably benign	0.07
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
R7709:Cap1	UTSW	4	122862674	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTAAGTTTGATGTCCCTTTAGAC -3'
(R):5'- GATAGGAGACTTAAATCACCAAGGC -3'

Sequencing Primer
(F):5'- CTTTAGACACCCCCAAATGAATGTTG -3'
(R):5'- GATGGTCCAGCATTTAAGAGCTC -3'

Posted On

2019-05-13