Mutagenetix > Incidental Mutations

Incidental Mutation 'R0599:Anxa6'

55236

Institutional Source

Beutler Lab

Gene Symbol

Anxa6

Ensembl Gene

ENSMUSG00000018340

Gene Name

annexin A6

Synonyms

AnxVI, Anx6, Cabm, Camb, Annexin VI

MMRRC Submission

038788-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R0599 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54979108-55033445 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54979466 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 667 (D667G)

Ref Sequence

ENSEMBL: ENSMUSP00000099788 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102727
AA Change: D667G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099788
Gene: ENSMUSG00000018340
AA Change: D667G

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

possibly damaging
Transcript: ENSMUST00000108883
AA Change: D673G

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104511
Gene: ENSMUSG00000018340
AA Change: D673G

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

Meta Mutation Damage Score

0.5514

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

98% (80/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,552,245	L978P	probably damaging	Het
Abcb1a	C	T	5: 8,698,539	T290M	probably benign	Het
Abcd3	A	T	3: 121,765,093	F585I	probably damaging	Het
Acan	A	G	7: 79,111,290		probably benign	Het
Ap3m2	G	T	8: 22,793,112	A208D	possibly damaging	Het
Arhgap17	A	T	7: 123,303,790		probably benign	Het
Bptf	A	G	11: 107,068,382	V1838A	probably damaging	Het
Brip1	T	A	11: 86,152,737	M334L	probably benign	Het
Btbd10	C	T	7: 113,335,309		probably benign	Het
Btbd11	G	A	10: 85,658,336	G1106D	probably damaging	Het
Cdh7	C	A	1: 110,052,966	T208K	probably damaging	Het
Cnga4	A	G	7: 105,405,818	Y100C	probably damaging	Het
Dnah10	G	A	5: 124,800,953	V2644M	probably damaging	Het
Dnah9	T	C	11: 65,965,689	D2882G	probably damaging	Het
Eapp	T	A	12: 54,685,962	K117M	probably damaging	Het
Eml3	T	C	19: 8,939,063	V673A	probably benign	Het
Ephb4	G	A	5: 137,369,855	C754Y	probably damaging	Het
Eps8l1	A	G	7: 4,477,957	D33G	possibly damaging	Het
Farsa	A	G	8: 84,867,583	K321E	probably damaging	Het
Fry	G	A	5: 150,437,159	R2090Q	probably damaging	Het
Gm10283	A	G	8: 60,501,224		probably benign	Het
Grm4	A	G	17: 27,431,490	I844T	probably benign	Het
Gtf2h3	A	G	5: 124,588,628	D124G	probably benign	Het
Gulo	A	T	14: 65,990,441	D347E	probably damaging	Het
Hmcn1	A	G	1: 150,609,801	F4350S	possibly damaging	Het
Hspg2	A	G	4: 137,512,401	D473G	probably damaging	Het
Il17ra	T	A	6: 120,481,505	I539N	probably damaging	Het
Insrr	A	G	3: 87,813,133	E1026G	probably damaging	Het
Itga2	A	T	13: 114,856,650		probably benign	Het
Kdm1b	A	T	13: 47,058,810	D190V	possibly damaging	Het
Lima1	A	T	15: 99,802,159	N146K	probably damaging	Het
Mettl7a3	A	T	15: 100,335,383	N152Y	possibly damaging	Het
Mnt	G	T	11: 74,842,296	V85L	probably benign	Het
Mon2	T	A	10: 123,026,065		probably benign	Het
Mtf1	T	C	4: 124,820,201		probably benign	Het
Mylk4	T	C	13: 32,712,754		probably null	Het
Myo18b	A	C	5: 112,865,750	L780R	probably damaging	Het
Myo1e	A	G	9: 70,376,660		probably benign	Het
Obscn	A	G	11: 59,073,696	S705P	probably damaging	Het
Ocrl	A	T	X: 47,936,086		probably benign	Het
Olfr1260	T	C	2: 89,978,201	F141S	probably benign	Het
Olfr394	A	T	11: 73,887,904	M156K	probably benign	Het
Olfr599	A	G	7: 103,338,186	N44S	probably damaging	Het
Olfr639	A	T	7: 104,012,188	C171*	probably null	Het
Otof	T	A	5: 30,370,705	K1931N	probably damaging	Het
Plcxd3	A	G	15: 4,516,867	S118G	probably damaging	Het
Plcz1	T	A	6: 140,028,542	Q58L	probably benign	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Rassf4	T	C	6: 116,645,936	E38G	probably damaging	Het
Ros1	A	T	10: 52,123,300	Y1164N	probably damaging	Het
Rpgrip1l	A	G	8: 91,305,000	I83T	probably damaging	Het
Scn9a	T	G	2: 66,526,799	K1053Q	probably damaging	Het
Sgsm1	G	T	5: 113,245,028	Q1087K	probably damaging	Het
Slc16a10	T	C	10: 40,141,918	D40G	probably benign	Het
Slc27a6	A	G	18: 58,556,813	D117G	probably damaging	Het
Slc2a9	T	A	5: 38,480,144		probably benign	Het
Slc4a1	A	G	11: 102,357,915		probably benign	Het
Smarca1	T	A	X: 47,823,426	Q982L	probably benign	Het
Sp100	T	A	1: 85,681,110	I320N	possibly damaging	Het
Stx8	A	T	11: 68,109,362	R209S	probably null	Het
Sulf2	T	C	2: 166,083,879	T453A	possibly damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tenm2	T	A	11: 36,024,780	I1976F	possibly damaging	Het
Tenm3	G	A	8: 48,277,710	S1341L	probably damaging	Het
Tmem130	C	T	5: 144,737,809	V369M	probably damaging	Het
Tmem200c	A	G	17: 68,840,511	K30E	probably damaging	Het
Tmem225	A	G	9: 40,149,747	I117V	possibly damaging	Het
Top2a	A	G	11: 99,001,417	I1073T	probably damaging	Het
Trps1	A	C	15: 50,831,860	Y296*	probably null	Het
Tubg1	T	C	11: 101,125,336	M377T	probably benign	Het
Vmn1r35	G	A	6: 66,679,513	H58Y	probably benign	Het
Vmn1r56	G	A	7: 5,196,430	H63Y	probably benign	Het
Vmn1r75	T	C	7: 11,881,262		probably null	Het
Vnn3	T	C	10: 23,865,705	S303P	possibly damaging	Het
Wdr49	C	T	3: 75,431,076		probably null	Het
Wdr49	T	C	3: 75,449,890		probably null	Het
Zcchc6	A	G	13: 59,809,487	V7A	probably damaging	Het
Zzef1	T	C	11: 72,913,178	L2582P	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	intron	probably null
R0374:Anxa6	UTSW	11	55005828	missense	probably benign	0.02
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
R6145:Anxa6	UTSW	11	54994904	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- AAAGCTCAAGTCAGGCAGGGTTATG -3'
(R):5'- GCCATTTAACAGTTGGCACCAAGGG -3'

Sequencing Primer
(F):5'- TCAGAGTTGAATGCAGTATATGGC -3'
(R):5'- TCTAGCCTTGATACAGCAGC -3'

Posted On

2013-07-11