Mutagenetix > Incidental Mutation

Incidental Mutation 'R8818:Anxa6'

672876

Institutional Source

Beutler Lab

Gene Symbol

Anxa6

Ensembl Gene

ENSMUSG00000018340

Gene Name

annexin A6

Synonyms

Anx6, Camb, Cabm, Annexin VI, AnxVI

MMRRC Submission

068651-MU

Accession Numbers

Essential gene?

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

Stock #

R8818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54869934-54924271 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 54902578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 52 (N52T)

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: N52T

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099788
Gene: ENSMUSG00000018340
AA Change: N52T

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: N52T

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104511
Gene: ENSMUSG00000018340
AA Change: N52T

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

0.4524

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Adam23	T	C	1: 63,584,627 (GRCm39)	V345A	probably damaging	Het
Arhgef15	G	A	11: 68,841,938 (GRCm39)	H496Y	probably damaging	Het
Atp2a3	A	G	11: 72,872,765 (GRCm39)	E771G	probably damaging	Het
B3gnt5	A	G	16: 19,588,347 (GRCm39)	T189A	possibly damaging	Het
Becn1	A	T	11: 101,186,230 (GRCm39)	S125T	probably damaging	Het
Bltp1	T	G	3: 37,050,697 (GRCm39)	M3011R	possibly damaging	Het
Ccdc180	A	G	4: 45,900,484 (GRCm39)	M283V	probably benign	Het
Cdh17	T	C	4: 11,771,323 (GRCm39)	F35S	probably damaging	Het
Clcn1	T	A	6: 42,282,477 (GRCm39)	I515N	probably damaging	Het
Cyp4f17	A	G	17: 32,743,068 (GRCm39)	Y247C	probably damaging	Het
Dcp1a	T	A	14: 30,240,899 (GRCm39)	H236Q	possibly damaging	Het
Dnah11	T	A	12: 117,874,764 (GRCm39)	N4034Y	probably damaging	Het
Dsg1a	A	G	18: 20,473,599 (GRCm39)	I891V	possibly damaging	Het
Eid3	A	G	10: 82,703,441 (GRCm39)	N301D	probably damaging	Het
Fbrs	C	A	7: 127,078,694 (GRCm39)	D108E	unknown	Het
Fbxw14	A	C	9: 109,116,071 (GRCm39)		probably benign	Het
Fzd8	A	G	18: 9,214,474 (GRCm39)	T519A	probably benign	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Gpr3	C	A	4: 132,938,538 (GRCm39)	V45L	possibly damaging	Het
Gramd1b	A	T	9: 40,215,780 (GRCm39)	I690K	probably benign	Het
Grhl2	T	A	15: 37,270,912 (GRCm39)	D33E	probably damaging	Het
Kcnj4	C	A	15: 79,369,920 (GRCm39)	R20L	probably damaging	Het
Klhl5	A	G	5: 65,305,989 (GRCm39)	I319V	probably benign	Het
Lars2	A	T	9: 123,221,892 (GRCm39)	E135D	possibly damaging	Het
Map9	T	A	3: 82,291,270 (GRCm39)	Y602N	possibly damaging	Het
Mphosph9	A	T	5: 124,463,027 (GRCm39)	L6*	probably null	Het
Naa35	C	T	13: 59,748,761 (GRCm39)	T131M	probably damaging	Het
Nucb2	T	A	7: 116,121,136 (GRCm39)	L22Q	possibly damaging	Het
Or8g26	A	G	9: 39,096,062 (GRCm39)	Y193C	probably damaging	Het
Or8k28	C	A	2: 86,286,078 (GRCm39)	C179F	probably damaging	Het
Pcdhb6	C	T	18: 37,468,837 (GRCm39)	T586I	probably benign	Het
Ppcs	A	T	4: 119,279,330 (GRCm39)	L74Q	probably damaging	Het
Ppp6r3	A	T	19: 3,517,216 (GRCm39)	V677D	probably benign	Het
Psg27	C	T	7: 18,294,337 (GRCm39)	G357S	probably damaging	Het
Ptgdr2	A	G	19: 10,918,380 (GRCm39)	N299S	probably damaging	Het
Relb	T	A	7: 19,353,762 (GRCm39)	I39F	probably damaging	Het
Ripor2	T	A	13: 24,901,651 (GRCm39)	S907R	possibly damaging	Het
Rnf170	T	G	8: 26,629,043 (GRCm39)	D172E	probably benign	Het
Rnf31	C	A	14: 55,832,396 (GRCm39)	Q273K	probably benign	Het
Rrp36	A	T	17: 46,983,336 (GRCm39)	S93T	probably damaging	Het
Rsad1	A	T	11: 94,439,100 (GRCm39)	V120D	probably benign	Het
Ryr3	C	T	2: 112,661,441 (GRCm39)	A1870T	probably damaging	Het
Serpina10	T	G	12: 103,595,063 (GRCm39)	D52A	probably benign	Het
Slc47a1	A	G	11: 61,261,055 (GRCm39)	I115T	probably benign	Het
Spag17	T	A	3: 99,920,543 (GRCm39)	M426K	probably benign	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Sptbn4	T	G	7: 27,063,592 (GRCm39)	E2283A	possibly damaging	Het
Top3a	A	G	11: 60,633,877 (GRCm39)	C740R	probably damaging	Het
Tpgs2	A	T	18: 25,291,365 (GRCm39)	V33E	probably damaging	Het
Treh	T	C	9: 44,592,823 (GRCm39)	I116T	probably damaging	Het
Trpm3	A	T	19: 22,955,952 (GRCm39)	N1138I	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vamp9	A	T	5: 100,089,094 (GRCm39)	N120Y	probably damaging	Het
Zswim9	G	T	7: 12,994,456 (GRCm39)	Q567K	probably benign	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
R6818:Anxa6	UTSW	11	54,870,326 (GRCm39)	missense	probably benign
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
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'- CGTTTCTAACACCCACACAGTG -3'
(R):5'- GGGAATTTCTGGAGGCAGACTG -3'

Sequencing Primer
(F):5'- GGCTTGTACAAGGTGCTCACAG -3'
(R):5'- GAATGCAGTCAGCTTGCATC -3'

Posted On

2021-04-30