Mutagenetix > Incidental Mutation

Incidental Mutation 'R9226:Anxa6'

699872

Institutional Source

Beutler Lab

Gene Symbol

Anxa6

Ensembl Gene

ENSMUSG00000018340

Gene Name

annexin A6

Synonyms

Anx6, Camb, Cabm, Annexin VI, AnxVI

MMRRC Submission

068960-MU

Accession Numbers

Essential gene?

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

Stock #

R9226 (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 54885791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 385 (T385S)

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: T385S

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099788
Gene: ENSMUSG00000018340
AA Change: T385S

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: T385S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104511
Gene: ENSMUSG00000018340
AA Change: T385S

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,118,518 (GRCm39)	M1L	probably benign	Het
Adgrf4	C	A	17: 42,980,606 (GRCm39)	A160S	probably damaging	Het
Adgrl1	T	C	8: 84,656,426 (GRCm39)	V243A	possibly damaging	Het
Adgrl4	G	T	3: 151,198,064 (GRCm39)		probably null	Het
Alg8	A	G	7: 97,027,423 (GRCm39)	Y97C	probably damaging	Het
Ankrd12	T	A	17: 66,292,754 (GRCm39)	D893V	probably damaging	Het
Art4	A	T	6: 136,831,365 (GRCm39)	C259S	probably damaging	Het
Ccer2	T	C	7: 28,456,561 (GRCm39)	S102P	possibly damaging	Het
Cdhr3	A	G	12: 33,132,320 (GRCm39)	F101S	probably damaging	Het
Ctdsp1	G	T	1: 74,434,735 (GRCm39)	G260W	probably damaging	Het
Cyp24a1	T	C	2: 170,338,277 (GRCm39)	Y89C	probably damaging	Het
Cyp2d34	T	C	15: 82,504,901 (GRCm39)	D53G	probably damaging	Het
Dnah7a	A	C	1: 53,560,326 (GRCm39)	I2115S	possibly damaging	Het
Exoc4	T	A	6: 33,895,359 (GRCm39)	I792N	possibly damaging	Het
Gm4353	A	G	7: 115,683,006 (GRCm39)	F192L	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ift140	T	C	17: 25,317,839 (GRCm39)	V1441A	probably benign	Het
Ighv1-49	A	T	12: 115,019,073 (GRCm39)	C41S	probably damaging	Het
Lgalsl	A	T	11: 20,779,306 (GRCm39)	I113N	possibly damaging	Het
Lrp1b	T	C	2: 41,401,460 (GRCm39)	D398G		Het
Lrrc4b	A	G	7: 44,112,099 (GRCm39)	H657R	possibly damaging	Het
Map2k2	T	C	10: 80,955,193 (GRCm39)	V228A	possibly damaging	Het
Mdn1	A	G	4: 32,694,612 (GRCm39)	I1112V	probably benign	Het
Mipep	T	A	14: 61,068,692 (GRCm39)	M488K	possibly damaging	Het
Myo15b	A	G	11: 115,750,924 (GRCm39)	T565A		Het
Nfat5	T	C	8: 108,095,401 (GRCm39)	L1214P	probably damaging	Het
Nphp3	A	G	9: 103,885,328 (GRCm39)	T223A	probably benign	Het
Or10s1	A	G	9: 39,986,187 (GRCm39)	I199V	probably benign	Het
Or52s19	A	G	7: 103,008,092 (GRCm39)	M103T	probably damaging	Het
Pkn2	G	A	3: 142,499,709 (GRCm39)	R939W	probably damaging	Het
Pla2g4c	T	C	7: 13,059,671 (GRCm39)	C3R	possibly damaging	Het
Plxnd1	A	T	6: 115,934,524 (GRCm39)	I1803N	probably damaging	Het
Pygb	C	A	2: 150,662,781 (GRCm39)	H583N	possibly damaging	Het
Rbm20	A	G	19: 53,839,645 (GRCm39)	D878G	possibly damaging	Het
Rdx	C	A	9: 51,992,468 (GRCm39)	Q414K	probably benign	Het
Scara3	T	C	14: 66,169,233 (GRCm39)	E128G	possibly damaging	Het
Sel1l2	T	C	2: 140,097,222 (GRCm39)	Y361C	probably damaging	Het
Sfmbt2	T	C	2: 10,442,860 (GRCm39)	I179T	probably benign	Het
Sgsm2	C	T	11: 74,748,960 (GRCm39)	V567M	possibly damaging	Het
Sirt4	G	A	5: 115,618,372 (GRCm39)	T234M	probably damaging	Het
Stab1	T	G	14: 30,867,812 (GRCm39)	K1653Q	probably benign	Het
Strn4	T	C	7: 16,559,722 (GRCm39)		probably benign	Het
Stxbp5l	C	A	16: 37,076,206 (GRCm39)	S280I	probably damaging	Het
Tex30	G	A	1: 44,126,133 (GRCm39)	R199W	probably damaging	Het
Tjp3	A	C	10: 81,110,420 (GRCm39)	F731V	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmco3	A	G	8: 13,360,143 (GRCm39)		probably null	Het
Tmem94	C	A	11: 115,683,191 (GRCm39)	A658E	probably damaging	Het
Tnxb	T	A	17: 34,904,766 (GRCm39)	L1177Q	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Upf2	T	A	2: 6,051,845 (GRCm39)	V1169D	unknown	Het
Usp20	C	A	2: 30,907,412 (GRCm39)	A648D	probably damaging	Het
Vmn2r108	T	G	17: 20,691,330 (GRCm39)	N398H	probably benign	Het
Whamm	A	T	7: 81,243,655 (GRCm39)	S626C	probably damaging	Het
Zbtb44	A	G	9: 30,975,524 (GRCm39)	S385G	possibly damaging	Het
Zfp580	C	T	7: 5,056,137 (GRCm39)	Q166*	probably null	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
R8818:Anxa6	UTSW	11	54,902,578 (GRCm39)	missense	possibly damaging	0.93
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'- GTGTGTGGAAGTCTCATTACCATG -3'
(R):5'- TTATCCCCACCAATGGCATG -3'

Sequencing Primer
(F):5'- TGAAGACTCTGGTGCCCAAATGTAC -3'
(R):5'- CCAATGGCATGACAAAAGAAAGC -3'

Posted On

2022-02-07