Mutagenetix > Incidental Mutation

Incidental Mutation 'R7811:Anxa7'

601182

Institutional Source

Beutler Lab

Gene Symbol

Anxa7

Ensembl Gene

ENSMUSG00000021814

Gene Name

annexin A7

Synonyms

Anx7, synexin

MMRRC Submission

045866-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20505328-20530201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20510254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 399 (Y399N)

Ref Sequence

ENSEMBL: ENSMUSP00000098405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065504] [ENSMUST00000100844] [ENSMUST00000224975] [ENSMUST00000225941]

AlphaFold

Q07076

Predicted Effect

probably benign
Transcript: ENSMUST00000065504
AA Change: Y377N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814
AA Change: Y377N

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	37	103	N/A	INTRINSIC
low complexity region	111	129	N/A	INTRINSIC
ANX	177	229	5.92e-26	SMART
ANX	249	301	3.12e-25	SMART
ANX	333	385	1.03e-11	SMART
ANX	408	460	2e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100844
AA Change: Y399N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814
AA Change: Y399N

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
low complexity region	37	103	N/A	INTRINSIC
low complexity region	111	129	N/A	INTRINSIC
ANX	177	229	5.92e-26	SMART
ANX	249	301	3.12e-25	SMART
ANX	333	385	1.03e-11	SMART
ANX	408	460	2e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224975
AA Change: Y377N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000225941

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are viable but exhibit altered Ca2+ signaling and/or homeostasis in cardiomyocytes and glia cells, and changes in erythrocyte shape, osmotic resistance, platelet number and aggregation velocity. Homozygotes for another null allele die at ~E10 with cerebral hemorrhage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,527,141 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,616,362 (GRCm39)	T935A	probably benign	Het
Arhgef10l	G	T	4: 140,242,335 (GRCm39)	T1030K	possibly damaging	Het
Ass1	G	A	2: 31,404,753 (GRCm39)	V345I	probably benign	Het
Bms1	T	C	6: 118,380,099 (GRCm39)	D736G	probably damaging	Het
Bpifb1	T	A	2: 154,048,484 (GRCm39)		probably null	Het
Cbx4	A	C	11: 118,972,398 (GRCm39)	C326G	probably benign	Het
Ccdc188	A	G	16: 18,036,314 (GRCm39)	E94G	probably benign	Het
Cdh5	A	G	8: 104,852,235 (GRCm39)	T117A	possibly damaging	Het
Cdk11b	A	G	4: 155,724,359 (GRCm39)	T326A	unknown	Het
Clec5a	C	T	6: 40,558,867 (GRCm39)	C73Y	probably damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Diaph3	T	C	14: 87,219,060 (GRCm39)	D455G	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Ern1	A	T	11: 106,325,694 (GRCm39)	V112D	unknown	Het
Eya3	T	C	4: 132,439,272 (GRCm39)	I466T	possibly damaging	Het
Fbxl6	T	C	15: 76,421,485 (GRCm39)		probably null	Het
Ffar1	A	G	7: 30,560,802 (GRCm39)	S32P	possibly damaging	Het
Fgb	T	C	3: 82,957,004 (GRCm39)	D22G	probably benign	Het
Fsip2	T	C	2: 82,828,797 (GRCm39)	Y6865H	possibly damaging	Het
Gbx1	T	C	5: 24,710,035 (GRCm39)	E270G	probably damaging	Het
Golga4	T	C	9: 118,361,643 (GRCm39)	L207P	probably damaging	Het
Hnrnpa1	T	C	15: 103,149,900 (GRCm39)	S54P	possibly damaging	Het
Htr4	A	G	18: 62,545,269 (GRCm39)	E18G	possibly damaging	Het
Ide	A	C	19: 37,307,910 (GRCm39)	L34R		Het
Ip6k3	A	T	17: 27,376,557 (GRCm39)	Y51*	probably null	Het
Keap1	A	G	9: 21,148,956 (GRCm39)	L17P	possibly damaging	Het
Lrrn2	T	C	1: 132,866,939 (GRCm39)	V668A	probably benign	Het
Lypd8	A	T	11: 58,281,064 (GRCm39)	T209S	possibly damaging	Het
Myo10	T	C	15: 25,804,610 (GRCm39)	I1635T	probably damaging	Het
Myo1e	T	A	9: 70,234,544 (GRCm39)	V299E	probably damaging	Het
Nadk	A	T	4: 155,661,332 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,536,357 (GRCm39)	W1231R	probably damaging	Het
Odf2l	A	G	3: 144,859,148 (GRCm39)	T602A	probably benign	Het
Or13g1	T	A	7: 85,955,554 (GRCm39)	T256S	probably damaging	Het
Or2r3	T	A	6: 42,448,635 (GRCm39)	E159V	probably damaging	Het
Pde6c	T	C	19: 38,128,507 (GRCm39)	V190A	possibly damaging	Het
Ppp4r3a	C	A	12: 101,019,821 (GRCm39)	R378L	probably damaging	Het
Pus7l	A	C	15: 94,438,707 (GRCm39)	V46G	probably damaging	Het
Satb2	G	A	1: 56,884,880 (GRCm39)	S466L	probably benign	Het
Serpina6	A	G	12: 103,620,395 (GRCm39)	M118T	probably damaging	Het
Slc29a1	T	C	17: 45,897,189 (GRCm39)	R366G	probably damaging	Het
Slc6a1	T	C	6: 114,279,515 (GRCm39)	F98S	probably damaging	Het
Spg7	T	C	8: 123,824,164 (GRCm39)	I738T	possibly damaging	Het
Srcap	T	C	7: 127,141,221 (GRCm39)	V1667A	probably damaging	Het
Stxbp5	T	C	10: 9,684,248 (GRCm39)	N574S	probably benign	Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tbc1d10a	T	C	11: 4,136,948 (GRCm39)	S54P	possibly damaging	Het
Trim12c	T	C	7: 103,990,469 (GRCm39)	N336S	unknown	Het
Ubap2	T	C	4: 41,211,710 (GRCm39)	S351G	probably benign	Het
Unc13c	G	T	9: 73,600,553 (GRCm39)	A1397E	possibly damaging	Het
Ush1c	G	A	7: 45,854,710 (GRCm39)	R681*	probably null	Het
Vmn2r57	A	T	7: 41,074,439 (GRCm39)	C541*	probably null	Het
Vmn2r73	T	C	7: 85,524,956 (GRCm39)	D64G	possibly damaging	Het
Vmn2r88	A	T	14: 51,656,160 (GRCm39)	T790S		Het
Zfp568	A	G	7: 29,697,295 (GRCm39)	T72A	possibly damaging	Het
Zfp950	A	T	19: 61,108,353 (GRCm39)	Y243*	probably null	Het
Zmym5	A	G	14: 57,036,434 (GRCm39)	S238P	probably damaging	Het
Zswim5	A	G	4: 116,734,673 (GRCm39)	E6G	unknown	Het

Other mutations in Anxa7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Anxa7	APN	14	20,508,749 (GRCm39)	missense	possibly damaging	0.87
IGL01137:Anxa7	APN	14	20,506,648 (GRCm39)	nonsense	probably null
IGL01376:Anxa7	APN	14	20,510,524 (GRCm39)	missense	probably benign	0.00
IGL01651:Anxa7	APN	14	20,506,569 (GRCm39)	missense	probably damaging	1.00
IGL02830:Anxa7	APN	14	20,506,608 (GRCm39)	missense	possibly damaging	0.67
IGL03078:Anxa7	APN	14	20,506,624 (GRCm39)	missense	probably damaging	0.97
IGL03177:Anxa7	APN	14	20,506,654 (GRCm39)	missense	probably benign	0.41
FR4449:Anxa7	UTSW	14	20,519,479 (GRCm39)	missense	probably damaging	0.97
FR4548:Anxa7	UTSW	14	20,519,479 (GRCm39)	missense	probably damaging	0.97
FR4737:Anxa7	UTSW	14	20,519,479 (GRCm39)	missense	probably damaging	0.97
FR4976:Anxa7	UTSW	14	20,519,479 (GRCm39)	missense	probably damaging	0.97
LCD18:Anxa7	UTSW	14	20,519,479 (GRCm39)	missense	probably damaging	0.97
R0049:Anxa7	UTSW	14	20,512,678 (GRCm39)	missense	probably damaging	1.00
R0049:Anxa7	UTSW	14	20,512,678 (GRCm39)	missense	probably damaging	1.00
R0121:Anxa7	UTSW	14	20,510,227 (GRCm39)	missense	probably damaging	0.97
R0329:Anxa7	UTSW	14	20,519,566 (GRCm39)	splice site	probably null
R0330:Anxa7	UTSW	14	20,519,566 (GRCm39)	splice site	probably null
R1416:Anxa7	UTSW	14	20,512,775 (GRCm39)	missense	probably damaging	1.00
R1601:Anxa7	UTSW	14	20,514,683 (GRCm39)	nonsense	probably null
R1701:Anxa7	UTSW	14	20,510,229 (GRCm39)	missense	probably damaging	1.00
R1794:Anxa7	UTSW	14	20,521,535 (GRCm39)	missense	unknown
R1828:Anxa7	UTSW	14	20,512,732 (GRCm39)	missense	probably damaging	1.00
R4676:Anxa7	UTSW	14	20,517,983 (GRCm39)	missense	probably benign	0.00
R5354:Anxa7	UTSW	14	20,514,977 (GRCm39)	missense	possibly damaging	0.63
R6547:Anxa7	UTSW	14	20,519,461 (GRCm39)	missense	probably benign	0.13
R6985:Anxa7	UTSW	14	20,521,636 (GRCm39)	missense	unknown
R7226:Anxa7	UTSW	14	20,510,263 (GRCm39)	missense	probably damaging	0.97
R7267:Anxa7	UTSW	14	20,519,474 (GRCm39)	missense	probably benign	0.05
R8550:Anxa7	UTSW	14	20,506,593 (GRCm39)	missense	probably damaging	1.00
R8877:Anxa7	UTSW	14	20,517,548 (GRCm39)	missense	probably benign	0.02
R8936:Anxa7	UTSW	14	20,521,495 (GRCm39)	missense	unknown
R9035:Anxa7	UTSW	14	20,510,460 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACAAACAATCCTTTTGGTCGCAC -3'
(R):5'- ACTGGGAACGGATGAATCCTG -3'

Sequencing Primer
(F):5'- TGGTCGCACCATCAATCACTCATAG -3'
(R):5'- TGATTCTCGCCACAAGGAG -3'

Posted On

2019-11-26