Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Anxa6'

488825

Institutional Source

Beutler Lab

Gene Symbol

Anxa6

Ensembl Gene

ENSMUSG00000018340

Gene Name

annexin A6

Synonyms

AnxVI, Anx6, Cabm, Camb, Annexin VI

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54979108-55033445 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54994904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 405 (F405S)

Ref Sequence

ENSEMBL: ENSMUSP00000104511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102727] [ENSMUST00000108883]

AlphaFold

P14824

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102727
AA Change: F405S

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099788
Gene: ENSMUSG00000018340
AA Change: F405S

Domain	Start	End	E-Value	Type
ANX	37	89	4.03e-19	SMART
ANX	109	161	2.09e-26	SMART
ANX	193	245	1.55e-20	SMART
ANX	268	320	2.23e-21	SMART
ANX	380	432	9.47e-25	SMART
ANX	452	504	1.12e-26	SMART
ANX	535	587	7.77e-12	SMART
ANX	610	662	4.73e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108883
AA Change: F405S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104511
Gene: ENSMUSG00000018340
AA Change: F405S

Domain	Start	End	E-Value	Type
ANX	37	89	4.03e-19	SMART
ANX	109	161	2.09e-26	SMART
ANX	193	245	1.55e-20	SMART
ANX	268	320	2.23e-21	SMART
ANX	380	432	9.47e-25	SMART
ANX	452	504	1.12e-26	SMART
low complexity region	517	528	N/A	INTRINSIC
ANX	541	593	7.77e-12	SMART
ANX	616	668	4.73e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148298

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele have normal immunological development but exhibit altered cardiomyocyte mechanics and intracellular calcium signaling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942		probably null	Het
4930402H24Rik	T	C	2: 130,778,473	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661	H1484R	probably damaging	Het
Asmt	G	A	X: 170,674,663	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904	G602*	probably null	Het
Ep400	A	T	5: 110,756,703	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381	S525N	unknown	Het
Nasp	G	A	4: 116,611,077	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pde10a	T	C	17: 8,929,117	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433		probably benign	Het
Ppm1j	G	A	3: 104,781,379	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637		probably null	Het
Rapgef1	A	G	2: 29,736,666	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246		probably null	Het
Slc15a3	C	T	19: 10,857,251	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294		probably benign	Het
Syne1	T	C	10: 5,052,750	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563		probably null	Het
Tbc1d24	C	A	17: 24,208,229	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574	K156R	probably damaging	Het

Other mutations in Anxa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Anxa6	APN	11	54992363	missense	probably damaging	1.00
IGL02450:Anxa6	APN	11	54994941	missense	probably damaging	1.00
R0220:Anxa6	UTSW	11	54981762	splice site	probably null
R0374:Anxa6	UTSW	11	55005828	missense	probably benign	0.02
R0599:Anxa6	UTSW	11	54979466	missense	possibly damaging	0.92
R0659:Anxa6	UTSW	11	54983347	missense	probably damaging	0.99
R0924:Anxa6	UTSW	11	54994388	splice site	probably null
R0930:Anxa6	UTSW	11	54994388	splice site	probably null
R1005:Anxa6	UTSW	11	55001218	missense	possibly damaging	0.89
R1435:Anxa6	UTSW	11	54991410	missense	probably benign
R2314:Anxa6	UTSW	11	55011735	missense	probably damaging	1.00
R2850:Anxa6	UTSW	11	55011026	missense	possibly damaging	0.94
R4596:Anxa6	UTSW	11	54994583	splice site	probably null
R5057:Anxa6	UTSW	11	55001236	missense	possibly damaging	0.82
R5685:Anxa6	UTSW	11	54996370	missense	probably benign
R5968:Anxa6	UTSW	11	54994341	missense	probably damaging	1.00
R6268:Anxa6	UTSW	11	54987077	splice site	probably null
R6818:Anxa6	UTSW	11	54979500	missense	probably benign
R6864:Anxa6	UTSW	11	54986185	missense	probably benign
R7224:Anxa6	UTSW	11	54986167	missense	probably damaging	1.00
R7595:Anxa6	UTSW	11	54985085	missense	probably benign	0.00
R7740:Anxa6	UTSW	11	55007899	missense	probably damaging	1.00
R8084:Anxa6	UTSW	11	55004008	missense	probably damaging	1.00
R8507:Anxa6	UTSW	11	55013870	missense	probably benign	0.14
R8676:Anxa6	UTSW	11	55001282	nonsense	probably null
R8818:Anxa6	UTSW	11	55011752	missense	possibly damaging	0.93
R9226:Anxa6	UTSW	11	54994965	missense	probably benign	0.34
R9227:Anxa6	UTSW	11	55007868	missense	probably benign	0.03
R9757:Anxa6	UTSW	11	54994356	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAACTAACTGGGAGGGTTG -3'
(R):5'- TTATCCCCACCAATGGCATG -3'

Sequencing Primer
(F):5'- GCCAAGGCTAGAACATTCTAAGATGC -3'
(R):5'- ATGGCCTCCAACCCAGG -3'

Posted On

2017-10-10