Mutagenetix > Incidental Mutation

Incidental Mutation 'R7740:Anxa6'

596505

Institutional Source

Beutler Lab

Gene Symbol

Anxa6

Ensembl Gene

ENSMUSG00000018340

Gene Name

annexin A6

Synonyms

Anx6, Camb, Cabm, Annexin VI, AnxVI

MMRRC Submission

045796-MU

Accession Numbers

Essential gene?

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

Stock #

R7740 (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 54898725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 150 (T150S)

Ref Sequence

ENSEMBL: ENSMUSP00000104511 (fasta)

Gene Model

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

AlphaFold

P14824

Predicted Effect

probably damaging
Transcript: ENSMUST00000102727
AA Change: T150S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099788
Gene: ENSMUSG00000018340
AA Change: T150S

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 damaging
Transcript: ENSMUST00000108883
AA Change: T150S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104511
Gene: ENSMUSG00000018340
AA Change: T150S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,370 (GRCm39)	Q163*	probably null	Het
Bpifb6	T	A	2: 153,744,929 (GRCm39)	L45Q	probably damaging	Het
Brwd1	T	C	16: 95,828,568 (GRCm39)	D1121G	probably damaging	Het
C1ql3	A	G	2: 13,015,483 (GRCm39)	I59T	possibly damaging	Het
Ccdc80	A	G	16: 44,924,888 (GRCm39)	H674R	possibly damaging	Het
Cdhr1	T	G	14: 36,811,337 (GRCm39)	E258A	probably damaging	Het
Ces2g	T	A	8: 105,692,962 (GRCm39)	F333L	probably damaging	Het
Chn2	C	T	6: 54,277,156 (GRCm39)	T445I	probably benign	Het
Cpe	T	C	8: 65,050,562 (GRCm39)	D382G	possibly damaging	Het
Crb1	T	A	1: 139,165,428 (GRCm39)	I960L	probably benign	Het
Cyp4a14	A	T	4: 115,350,806 (GRCm39)	V156D	probably damaging	Het
Ddx23	A	T	15: 98,556,315 (GRCm39)	M1K	probably null	Het
Dnajc7	T	C	11: 100,482,387 (GRCm39)	I202V	probably benign	Het
Dsn1	T	A	2: 156,839,636 (GRCm39)	D255V	possibly damaging	Het
Dvl3	A	T	16: 20,346,000 (GRCm39)		probably null	Het
Epm2a	A	G	10: 11,266,684 (GRCm39)	D143G	possibly damaging	Het
Erc1	T	A	6: 119,738,149 (GRCm39)	M565L	probably benign	Het
Fancm	T	C	12: 65,173,321 (GRCm39)	C1878R	possibly damaging	Het
Gapvd1	T	C	2: 34,590,834 (GRCm39)	E946G	probably damaging	Het
Gm9195	C	T	14: 72,678,113 (GRCm39)	R2352K	possibly damaging	Het
Greb1	C	A	12: 16,790,122 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,362,678 (GRCm39)	A44V	possibly damaging	Het
Herc4	A	G	10: 63,105,457 (GRCm39)	Y146C	probably benign	Het
Herc6	T	G	6: 57,636,802 (GRCm39)		probably null	Het
Hivep2	G	T	10: 14,003,414 (GRCm39)	G4V	probably damaging	Het
Hsdl2	G	T	4: 59,612,724 (GRCm39)	G425V	probably damaging	Het
Igkv1-110	C	T	6: 68,247,974 (GRCm39)	L28F	probably benign	Het
Il21r	T	A	7: 125,231,727 (GRCm39)	L385Q	possibly damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Krtap5-2	C	T	7: 141,728,699 (GRCm39)	C149Y	unknown	Het
Lingo2	T	A	4: 35,709,248 (GRCm39)	N244I	probably damaging	Het
Lrrk2	C	T	15: 91,651,527 (GRCm39)	R1728C	probably damaging	Het
Macf1	A	G	4: 123,578,096 (GRCm39)		probably benign	Het
Malrd1	G	A	2: 15,619,026 (GRCm39)	V297I	not run	Het
Mars1	T	A	10: 127,136,444 (GRCm39)	E460D	probably benign	Het
Nr1i3	A	G	1: 171,044,396 (GRCm39)	I174V	probably benign	Het
Odf2	C	T	2: 29,820,636 (GRCm39)	T814M	probably damaging	Het
Or10q1	T	C	19: 13,727,328 (GRCm39)	V286A	probably benign	Het
Or4k1	T	C	14: 50,377,803 (GRCm39)	M98V	probably benign	Het
Or4k52	A	T	2: 111,610,793 (GRCm39)	I43F	possibly damaging	Het
Pcdhga8	T	C	18: 37,860,470 (GRCm39)	S509P	probably benign	Het
Pdzd2	A	G	15: 12,374,102 (GRCm39)	L2011S	probably benign	Het
Pole	T	A	5: 110,478,907 (GRCm39)	S1930T	probably benign	Het
Poteg	T	A	8: 27,952,052 (GRCm39)		probably null	Het
Ptprk	T	A	10: 28,372,920 (GRCm39)	C724S	probably damaging	Het
Rabgap1l	T	C	1: 160,509,673 (GRCm39)	E468G	probably benign	Het
Rbm12b1	G	T	4: 12,145,954 (GRCm39)	R642L	probably benign	Het
Relch	T	C	1: 105,658,986 (GRCm39)	V914A	probably damaging	Het
S1pr4	A	T	10: 81,334,855 (GRCm39)	Y206*	probably null	Het
Sim2	A	G	16: 93,915,819 (GRCm39)	I261V	probably benign	Het
Slc22a12	C	A	19: 6,587,199 (GRCm39)	A448S	probably benign	Het
Slc4a2	A	G	5: 24,636,666 (GRCm39)		probably null	Het
Slc6a7	T	C	18: 61,133,495 (GRCm39)	E567G	possibly damaging	Het
St6gal1	T	C	16: 23,139,785 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,920,546 (GRCm39)	K550R	probably benign	Het
Tekt1	T	A	11: 72,250,544 (GRCm39)	T51S	probably benign	Het
Tm9sf4	T	A	2: 153,050,663 (GRCm39)	V640E	probably damaging	Het
Tnfsf8	G	T	4: 63,752,683 (GRCm39)	H127Q	possibly damaging	Het
Tomm20	A	G	8: 127,666,633 (GRCm39)	L80S	probably damaging	Het
Top2a	T	C	11: 98,884,640 (GRCm39)	D1526G	probably benign	Het
Trmt1l	T	C	1: 151,316,639 (GRCm39)	V200A	possibly damaging	Het
Trpa1	A	G	1: 14,982,625 (GRCm39)	V77A	possibly damaging	Het
Vmn2r12	A	T	5: 109,239,615 (GRCm39)	V316D	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Zfp2	T	C	11: 50,791,605 (GRCm39)	H146R	probably damaging	Het
Zfp52	T	C	17: 21,781,252 (GRCm39)	S367P	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
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
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'- GACCAATAGACAGAGCCTGG -3'
(R):5'- ATGGCAGCCATGTAGCTTGG -3'

Sequencing Primer
(F):5'- CCTGGGCTTGAGAGTGGTC -3'
(R):5'- CAGCCATGTAGCTTGGATTGG -3'

Posted On

2019-11-26