Mutagenetix > Incidental Mutation

Incidental Mutation 'R6818:Anxa6'

537437

Institutional Source

Beutler Lab

Gene Symbol

Anxa6

Ensembl Gene

ENSMUSG00000018340

Gene Name

annexin A6

Synonyms

Anx6, Camb, Cabm, Annexin VI, AnxVI

MMRRC Submission

044930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R6818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54869934-54924271 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54870326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 662 (M662L)

Ref Sequence

ENSEMBL: ENSMUSP00000104511 (fasta)

Gene Model

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

AlphaFold

P14824

Predicted Effect

probably benign
Transcript: ENSMUST00000102727
AA Change: M656L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099788
Gene: ENSMUSG00000018340
AA Change: M656L

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 benign
Transcript: ENSMUST00000108883
AA Change: M662L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104511
Gene: ENSMUSG00000018340
AA Change: M662L

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,865,089 (GRCm39)		probably null	Het
Acot4	A	C	12: 84,088,783 (GRCm39)	E210D	probably damaging	Het
Adamts9	A	C	6: 92,882,172 (GRCm39)	S476A	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Ak1	T	A	2: 32,520,385 (GRCm39)	M61K	probably damaging	Het
Ambp	G	T	4: 63,072,243 (GRCm39)	S17*	probably null	Het
Atp11b	T	C	3: 35,868,329 (GRCm39)	I467T	possibly damaging	Het
B3gat1	G	T	9: 26,662,998 (GRCm39)		probably benign	Het
Bccip	T	G	7: 133,319,488 (GRCm39)	I193S	probably damaging	Het
Ccdc170	A	G	10: 4,491,782 (GRCm39)	E401G	probably damaging	Het
Cldn16	A	G	16: 26,296,257 (GRCm39)	T78A	probably damaging	Het
Cldn24	G	T	8: 48,275,757 (GRCm39)	A194S	probably benign	Het
Cltc	A	G	11: 86,595,054 (GRCm39)	V1348A	possibly damaging	Het
Clvs1	T	C	4: 9,282,014 (GRCm39)		probably null	Het
Csmd1	C	T	8: 16,235,341 (GRCm39)	D1161N	probably damaging	Het
Cuzd1	A	G	7: 130,918,394 (GRCm39)	V181A	probably damaging	Het
Dhx30	A	G	9: 109,917,099 (GRCm39)	I435T	probably damaging	Het
Dip2b	T	C	15: 100,091,835 (GRCm39)	V858A	probably benign	Het
Dnmt3b	C	T	2: 153,528,204 (GRCm39)	T822M	probably damaging	Het
Dock10	A	T	1: 80,593,082 (GRCm39)	F97I	possibly damaging	Het
Dock8	T	C	19: 25,146,865 (GRCm39)		probably null	Het
Dvl2	T	C	11: 69,900,099 (GRCm39)	L631P	probably damaging	Het
Faf2	T	A	13: 54,789,419 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,200,167 (GRCm39)	H969L	probably benign	Het
Fsip2	T	A	2: 82,815,544 (GRCm39)	V3759E	probably benign	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gm973	T	C	1: 59,669,328 (GRCm39)	L793P	probably damaging	Het
H2-M1	A	G	17: 36,981,327 (GRCm39)	I236T	probably damaging	Het
Hif1a	A	T	12: 73,992,337 (GRCm39)	R765*	probably null	Het
Htt	A	G	5: 34,940,111 (GRCm39)	K77E	probably damaging	Het
Ift172	G	T	5: 31,423,304 (GRCm39)	Q826K	probably benign	Het
Inafm1	C	T	7: 16,007,086 (GRCm39)	A44T	probably damaging	Het
Kctd4	A	G	14: 76,200,748 (GRCm39)	T240A	probably damaging	Het
Klk1	A	T	7: 43,878,883 (GRCm39)	I124F	probably damaging	Het
Krbox5	A	G	13: 67,981,986 (GRCm39)	Q66R	possibly damaging	Het
Kremen1	T	C	11: 5,145,051 (GRCm39)	T442A	probably benign	Het
Mei4	T	A	9: 81,907,574 (GRCm39)	D202E	probably benign	Het
Mest	T	A	6: 30,746,286 (GRCm39)	D284E	probably damaging	Het
Nsfl1c	T	A	2: 151,344,940 (GRCm39)	Y95*	probably null	Het
Or10al5	T	A	17: 38,063,315 (GRCm39)	V190D	possibly damaging	Het
Or10am5	T	C	7: 6,517,550 (GRCm39)	M293V	probably damaging	Het
Or2ak4	T	A	11: 58,648,783 (GRCm39)	C97*	probably null	Het
Or4k38	T	G	2: 111,165,659 (GRCm39)	I255L	probably benign	Het
Pgm1	T	A	4: 99,820,763 (GRCm39)	I220N	probably damaging	Het
Pirt	T	A	11: 66,816,719 (GRCm39)	V10E	possibly damaging	Het
Prl7d1	C	A	13: 27,898,454 (GRCm39)	M19I	probably benign	Het
Samhd1	T	C	2: 156,949,417 (GRCm39)	N490D	probably benign	Het
Scn2a	C	A	2: 65,519,013 (GRCm39)	S413*	probably null	Het
Serpinb6e	A	T	13: 34,016,337 (GRCm39)		probably null	Het
Slitrk5	A	G	14: 111,917,726 (GRCm39)	D450G	probably benign	Het
Tchh	A	G	3: 93,350,718 (GRCm39)	T53A	probably damaging	Het
Tmem44	A	T	16: 30,362,039 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,448 (GRCm39)	E114G	possibly damaging	Het
Treml2	A	G	17: 48,609,925 (GRCm39)	Y119C	probably damaging	Het
Ubxn1	T	A	19: 8,851,245 (GRCm39)		probably null	Het
Vmn2r84	A	T	10: 130,222,147 (GRCm39)	M691K	probably benign	Het
Vmn2r97	A	T	17: 19,168,193 (GRCm39)	I816F	possibly damaging	Het
Was	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	X: 7,952,450 (GRCm39)		probably benign	Het
Wfdc2	T	C	2: 164,405,070 (GRCm39)		probably null	Het
Zscan4-ps3	T	C	7: 11,346,986 (GRCm39)	S341P	probably damaging	Het

Other mutations in Anxa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Anxa6	APN	11	54,883,189 (GRCm39)	missense	probably damaging	1.00
IGL02450:Anxa6	APN	11	54,885,767 (GRCm39)	missense	probably damaging	1.00
R0220:Anxa6	UTSW	11	54,872,588 (GRCm39)	splice site	probably null
R0374:Anxa6	UTSW	11	54,896,654 (GRCm39)	missense	probably benign	0.02
R0599:Anxa6	UTSW	11	54,870,292 (GRCm39)	missense	possibly damaging	0.92
R0659:Anxa6	UTSW	11	54,874,173 (GRCm39)	missense	probably damaging	0.99
R0924:Anxa6	UTSW	11	54,885,214 (GRCm39)	splice site	probably null
R0930:Anxa6	UTSW	11	54,885,214 (GRCm39)	splice site	probably null
R1005:Anxa6	UTSW	11	54,892,044 (GRCm39)	missense	possibly damaging	0.89
R1435:Anxa6	UTSW	11	54,882,236 (GRCm39)	missense	probably benign
R2314:Anxa6	UTSW	11	54,902,561 (GRCm39)	missense	probably damaging	1.00
R2850:Anxa6	UTSW	11	54,901,852 (GRCm39)	missense	possibly damaging	0.94
R4596:Anxa6	UTSW	11	54,885,409 (GRCm39)	splice site	probably null
R5057:Anxa6	UTSW	11	54,892,062 (GRCm39)	missense	possibly damaging	0.82
R5685:Anxa6	UTSW	11	54,887,196 (GRCm39)	missense	probably benign
R5968:Anxa6	UTSW	11	54,885,167 (GRCm39)	missense	probably damaging	1.00
R6145:Anxa6	UTSW	11	54,885,730 (GRCm39)	missense	probably damaging	0.98
R6268:Anxa6	UTSW	11	54,877,903 (GRCm39)	splice site	probably null
R6864:Anxa6	UTSW	11	54,877,011 (GRCm39)	missense	probably benign
R7224:Anxa6	UTSW	11	54,876,993 (GRCm39)	missense	probably damaging	1.00
R7595:Anxa6	UTSW	11	54,875,911 (GRCm39)	missense	probably benign	0.00
R7740:Anxa6	UTSW	11	54,898,725 (GRCm39)	missense	probably damaging	1.00
R8084:Anxa6	UTSW	11	54,894,834 (GRCm39)	missense	probably damaging	1.00
R8507:Anxa6	UTSW	11	54,904,696 (GRCm39)	missense	probably benign	0.14
R8676:Anxa6	UTSW	11	54,892,108 (GRCm39)	nonsense	probably null
R8818:Anxa6	UTSW	11	54,902,578 (GRCm39)	missense	possibly damaging	0.93
R9226:Anxa6	UTSW	11	54,885,791 (GRCm39)	missense	probably benign	0.34
R9227:Anxa6	UTSW	11	54,898,694 (GRCm39)	missense	probably benign	0.03
R9757:Anxa6	UTSW	11	54,885,182 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTATATGGCCGTGGTTCACC -3'
(R):5'- TCACAAGTGTGTCTGGCGAG -3'

Sequencing Primer
(F):5'- ACCCTCAATGGCTAGAGAGTGC -3'
(R):5'- GAGGTCTCTCTAGCCTTGATACAG -3'

Posted On

2018-10-18