Mutagenetix > Incidental Mutation

Incidental Mutation 'R6268:Anxa6'

507172

Institutional Source

Beutler Lab

Gene Symbol

Anxa6

Ensembl Gene

ENSMUSG00000018340

Gene Name

annexin A6

Synonyms

Anx6, Camb, Cabm, Annexin VI, AnxVI

MMRRC Submission

044439-MU

Accession Numbers

Essential gene?

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

Stock #

R6268 (G1)

Quality Score

93.0077

Status

Validated

Chromosome

Chromosomal Location

54869934-54924271 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 54877903 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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

99% (68/69)

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
4921504E06Rik	A	G	2: 19,545,219 (GRCm39)	I78T	probably benign	Het
Afg3l1	A	T	8: 124,219,665 (GRCm39)	I398F	probably damaging	Het
Ahctf1	T	C	1: 179,591,048 (GRCm39)	H1244R	probably benign	Het
Ank1	A	T	8: 23,599,687 (GRCm39)	K797N	probably damaging	Het
Aoc1l1	T	A	6: 48,954,616 (GRCm39)	Y585N	probably benign	Het
Ap1b1	T	A	11: 4,969,493 (GRCm39)	V310E	probably damaging	Het
C2cd2l	T	C	9: 44,228,963 (GRCm39)	I123V	probably damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,874,771 (GRCm39)	I542F	probably damaging	Het
Cfap57	G	T	4: 118,426,648 (GRCm39)	Y1100*	probably null	Het
Coq9	A	G	8: 95,576,862 (GRCm39)	E158G	probably benign	Het
Cox15	A	T	19: 43,728,365 (GRCm39)	W303R	possibly damaging	Het
Cpa5	A	G	6: 30,615,172 (GRCm39)	Y103C	probably damaging	Het
Crygn	A	T	5: 24,961,189 (GRCm39)	V39E	probably damaging	Het
Csf1	G	T	3: 107,654,473 (GRCm39)	S132R	possibly damaging	Het
Dapk1	G	A	13: 60,909,580 (GRCm39)	V1398M	possibly damaging	Het
Degs2	C	A	12: 108,658,839 (GRCm39)	V47L	probably damaging	Het
Dock5	C	A	14: 68,027,724 (GRCm39)	E1057*	probably null	Het
Dsg1b	C	A	18: 20,521,220 (GRCm39)	Q26K	probably benign	Het
Elp1	T	C	4: 56,762,305 (GRCm39)	Y1098C	probably damaging	Het
Fam181a	T	C	12: 103,282,803 (GRCm39)	V236A	possibly damaging	Het
Fam78b	C	A	1: 166,906,122 (GRCm39)	P94T	probably damaging	Het
Fbxw25	T	G	9: 109,483,718 (GRCm39)	T165P	probably damaging	Het
Flg	C	A	3: 93,195,482 (GRCm39)		probably benign	Het
Frrs1	G	T	3: 116,696,748 (GRCm39)	V573F	probably damaging	Het
Gm7298	A	G	6: 121,756,032 (GRCm39)	T964A	possibly damaging	Het
Hoxd9	G	T	2: 74,528,433 (GRCm39)	V12L	probably damaging	Het
Kcnt1	A	G	2: 25,793,609 (GRCm39)		probably null	Het
Klhl3	G	T	13: 58,161,656 (GRCm39)	R480S	probably damaging	Het
Klhl36	A	G	8: 120,597,406 (GRCm39)	D369G	probably damaging	Het
Lama3	T	A	18: 12,657,794 (GRCm39)	N303K	probably damaging	Het
Lhcgr	T	C	17: 89,050,132 (GRCm39)	T465A	probably damaging	Het
Llgl1	T	C	11: 60,602,989 (GRCm39)	V888A	probably benign	Het
Lrp1b	T	A	2: 40,711,729 (GRCm39)	T3164S	probably benign	Het
Mmp3	T	G	9: 7,447,622 (GRCm39)	D202E	possibly damaging	Het
Mocs1	C	A	17: 49,742,183 (GRCm39)	T104K	probably damaging	Het
Mrpl42	A	T	10: 95,332,569 (GRCm39)		probably null	Het
Mtch2	T	C	2: 90,693,992 (GRCm39)	C279R	probably benign	Het
Muc4	A	T	16: 32,589,141 (GRCm39)	D2836V	probably damaging	Het
Myh7	T	C	14: 55,226,741 (GRCm39)	E370G	probably benign	Het
Naa11	A	G	5: 97,540,069 (GRCm39)	Y30H	probably damaging	Het
Ntng1	T	C	3: 109,842,351 (GRCm39)	T141A	probably damaging	Het
Or5h26	A	C	16: 58,987,656 (GRCm39)		probably null	Het
Or8c11	T	C	9: 38,289,384 (GRCm39)	I69T	probably benign	Het
Or9i14	A	T	19: 13,792,671 (GRCm39)	Y94*	probably null	Het
Pcdha12	G	A	18: 37,155,477 (GRCm39)	C732Y	possibly damaging	Het
Plekhm2	G	A	4: 141,359,652 (GRCm39)	Q392*	probably null	Het
Prr22	G	A	17: 57,078,587 (GRCm39)	V247M	probably damaging	Het
Rapgef6	T	A	11: 54,540,073 (GRCm39)	L716Q	probably damaging	Het
Rasgrp4	G	A	7: 28,842,493 (GRCm39)	V246I	probably damaging	Het
Rhbdd2	C	T	5: 135,672,114 (GRCm39)	T323I	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scgb2b20	A	T	7: 33,063,973 (GRCm39)	I99K	possibly damaging	Het
Scyl3	C	T	1: 163,773,786 (GRCm39)	R324*	probably null	Het
Slc23a1	T	C	18: 35,752,624 (GRCm39)	Y551C	probably damaging	Het
Slc5a5	A	T	8: 71,341,264 (GRCm39)	S358R	probably damaging	Het
Sorcs3	T	A	19: 48,778,605 (GRCm39)	N1007K	probably damaging	Het
Stxbp4	T	A	11: 90,431,027 (GRCm39)	K428*	probably null	Het
Tmem63c	T	A	12: 87,128,727 (GRCm39)	I584N	probably damaging	Het
Traf3ip3	C	T	1: 192,880,344 (GRCm39)		probably benign	Het
Trgv2	G	A	13: 19,521,001 (GRCm39)	T31I	probably benign	Het
Ttll3	C	T	6: 113,369,524 (GRCm39)	R23C	probably benign	Het
Ugt2a3	A	C	5: 87,477,472 (GRCm39)	L309R	probably damaging	Het
Urb1	A	G	16: 90,550,807 (GRCm39)	M2015T	probably benign	Het
Vmn2r14	A	C	5: 109,369,283 (GRCm39)	S97A	possibly damaging	Het
Vps13c	C	A	9: 67,858,731 (GRCm39)	T2727K	probably benign	Het
Xrn1	T	A	9: 95,846,067 (GRCm39)	I40K	probably damaging	Het
Zc3h11a	A	G	1: 133,552,295 (GRCm39)	V604A	probably benign	Het
Zfp410	G	A	12: 84,378,612 (GRCm39)	R259H	probably benign	Het
Zfp748	A	G	13: 67,690,705 (GRCm39)	V185A	possibly 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
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'- AGTCCTTAAAAGGCCCTGAAGG -3'
(R):5'- GAGTATGAAGAGTATCACTACCCCTC -3'

Sequencing Primer
(F):5'- CCTGAAGGGGAGAGAGAGAAGC -3'
(R):5'- GAGTATCACTACCCCTCTGGAAAAAC -3'

Posted On

2018-03-15