Mutagenetix > Incidental Mutation

Incidental Mutation 'R0924:Anxa6'

83100

Institutional Source

Beutler Lab

Gene Symbol

Anxa6

Ensembl Gene

ENSMUSG00000018340

Gene Name

annexin A6

Synonyms

Anx6, Camb, Cabm, Annexin VI, AnxVI

MMRRC Submission

039071-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R0924 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54869934-54924271 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 54885214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104511 (fasta)

Gene Model

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

AlphaFold

P14824

Predicted Effect

probably null
Transcript: ENSMUST00000102727

SMART Domains

Protein: ENSMUSP00000099788
Gene: ENSMUSG00000018340

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 null
Transcript: ENSMUST00000108883

SMART Domains

Protein: ENSMUSP00000104511
Gene: ENSMUSG00000018340

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (69/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,432,028 (GRCm39)		probably null	Het
Ahcyl2	A	C	6: 29,870,627 (GRCm39)		probably null	Het
Ajap1	T	A	4: 153,470,929 (GRCm39)	I293F	probably damaging	Het
Akap10	T	C	11: 61,795,689 (GRCm39)		probably benign	Het
Aldh3b2	T	C	19: 4,029,350 (GRCm39)	V241A	probably benign	Het
Atpaf1	T	A	4: 115,652,635 (GRCm39)	V12D	probably damaging	Het
Aurkb	C	A	11: 68,936,822 (GRCm39)	Y12*	probably null	Het
Bicdl1	A	G	5: 115,799,587 (GRCm39)		probably benign	Het
Bnc1	A	T	7: 81,628,156 (GRCm39)		probably benign	Het
Bpi	A	G	2: 158,103,346 (GRCm39)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,652,857 (GRCm39)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,570,860 (GRCm39)	N1045D	possibly damaging	Het
Ccrl2	A	G	9: 110,885,036 (GRCm39)	V154A	probably benign	Het
Celsr3	C	A	9: 108,723,224 (GRCm39)	Q2831K	possibly damaging	Het
Cplane1	T	C	15: 8,280,554 (GRCm39)		probably benign	Het
Cul3	A	T	1: 80,267,835 (GRCm39)	M102K	probably damaging	Het
Cwf19l2	T	C	9: 3,441,047 (GRCm39)		probably benign	Het
Dlg5	G	A	14: 24,185,645 (GRCm39)	P1920L	probably damaging	Het
Dnah2	T	C	11: 69,312,134 (GRCm39)	H4393R	probably damaging	Het
Eif2b3	T	A	4: 116,938,775 (GRCm39)	V408D	possibly damaging	Het
Eml3	T	C	19: 8,910,675 (GRCm39)		probably null	Het
Enpp2	T	C	15: 54,770,355 (GRCm39)		probably benign	Het
Fcgbpl1	A	T	7: 27,839,555 (GRCm39)	Y456F	probably damaging	Het
Gm14178	T	A	11: 99,638,326 (GRCm39)	T18S		Het
H2bc12	G	A	13: 22,220,210 (GRCm39)	D52N	probably damaging	Het
H2-M11	A	G	17: 36,860,106 (GRCm39)	M324V	probably benign	Het
H2-T13	A	T	17: 36,394,824 (GRCm39)	V33E	probably damaging	Het
Hdac10	T	C	15: 89,010,065 (GRCm39)	T298A	probably benign	Het
Hepacam	A	C	9: 37,295,224 (GRCm39)		probably benign	Het
Hmx3	A	T	7: 131,144,813 (GRCm39)	H41L	probably benign	Het
Ifi27l2a	A	G	12: 103,408,639 (GRCm39)	V68A	probably damaging	Het
Itga11	A	G	9: 62,683,956 (GRCm39)	E1079G	probably benign	Het
Krt6a	T	C	15: 101,599,235 (GRCm39)		probably benign	Het
L1td1	A	G	4: 98,625,862 (GRCm39)	N686D	probably damaging	Het
Lrrtm2	G	A	18: 35,346,808 (GRCm39)	R165C	probably damaging	Het
Macf1	G	T	4: 123,279,271 (GRCm39)	A3910E	probably damaging	Het
Muc5ac	A	T	7: 141,361,252 (GRCm39)	Y1521F	possibly damaging	Het
Myo7a	A	T	7: 97,747,463 (GRCm39)	I129N	probably damaging	Het
Ncam1	A	T	9: 49,473,476 (GRCm39)		probably benign	Het
Nckap1	A	T	2: 80,384,593 (GRCm39)	C114S	probably benign	Het
Nf1	T	G	11: 79,344,692 (GRCm39)	W1260G	probably damaging	Het
Or3a1d	T	C	11: 74,237,624 (GRCm39)	Y262C	probably damaging	Het
Or6b2b	A	G	1: 92,419,127 (GRCm39)	S117P	possibly damaging	Het
Or6c76b	A	T	10: 129,692,515 (GRCm39)	I43F	probably damaging	Het
Oxtr	A	T	6: 112,466,598 (GRCm39)		probably null	Het
Pabpc4	C	T	4: 123,188,458 (GRCm39)	R356C	possibly damaging	Het
Pcbp2	T	A	15: 102,398,197 (GRCm39)	D182E	probably damaging	Het
Pgm2	A	T	5: 64,269,490 (GRCm39)	I526F	possibly damaging	Het
Rab43	A	T	6: 87,769,752 (GRCm39)	Y151*	probably null	Het
Rbm19	A	G	5: 120,264,269 (GRCm39)	E343G	probably benign	Het
Rel	A	T	11: 23,692,439 (GRCm39)	D531E	probably benign	Het
Rfx4	T	A	10: 84,704,291 (GRCm39)	V262E	probably damaging	Het
Rnf31	T	C	14: 55,830,459 (GRCm39)		probably benign	Het
Robo3	T	A	9: 37,340,778 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,672,178 (GRCm39)	L1431P	probably damaging	Het
Sema3d	A	C	5: 12,513,183 (GRCm39)	D51A	possibly damaging	Het
Sema6a	A	G	18: 47,381,559 (GRCm39)	L996P	probably damaging	Het
Sh2d4a	T	A	8: 68,787,775 (GRCm39)	F294I	probably damaging	Het
Sorl1	T	A	9: 41,919,470 (GRCm39)		probably benign	Het
Sox1ot	G	T	8: 12,480,455 (GRCm39)		noncoding transcript	Het
Spsb3	A	T	17: 25,110,358 (GRCm39)	N395I	probably damaging	Het
Sptan1	A	G	2: 29,906,040 (GRCm39)	N1662S	probably damaging	Het
Srd5a2	G	T	17: 74,331,516 (GRCm39)	N160K	probably damaging	Het
Sting1	A	G	18: 35,868,154 (GRCm39)		probably null	Het
Tmem132d	G	A	5: 128,061,503 (GRCm39)		probably benign	Het
Unc80	A	T	1: 66,549,800 (GRCm39)	Q686L	possibly damaging	Het
Vmn2r93	A	G	17: 18,524,443 (GRCm39)	T146A	probably benign	Het
Wdr19	A	G	5: 65,413,782 (GRCm39)		probably benign	Het
Zfp646	C	T	7: 127,482,982 (GRCm39)	Q1500*	probably null	Het
Zfp683	T	C	4: 133,783,138 (GRCm39)	Y201H	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
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
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'- CCTAGATGCAGGACTGGGTACACTAA -3'
(R):5'- GGGAGACCTGGCAAGGCTGA -3'

Sequencing Primer
(F):5'- gatgaggggagaagagatcac -3'
(R):5'- ACCTGGCAAGGCTGATTCTG -3'

Posted On

2013-11-08