Mutagenetix > Incidental Mutation

Incidental Mutation 'R4676:Anxa7'

349598

Institutional Source

Beutler Lab

Gene Symbol

Anxa7

Ensembl Gene

ENSMUSG00000021814

Gene Name

annexin A7

Synonyms

Anx7, synexin

MMRRC Submission

042013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R4676 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20505328-20530201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20517983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 128 (M128V)

Ref Sequence

ENSEMBL: ENSMUSP00000153669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065504] [ENSMUST00000100844] [ENSMUST00000224975] [ENSMUST00000225941] [ENSMUST00000225132]

AlphaFold

Q07076

Predicted Effect

probably benign
Transcript: ENSMUST00000065504
AA Change: M128V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814
AA Change: M128V

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: M128V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814
AA Change: M128V

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

noncoding transcript
Transcript: ENSMUST00000223681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224410

Predicted Effect

probably benign
Transcript: ENSMUST00000224975
AA Change: M128V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000225941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225118

Predicted Effect

probably benign
Transcript: ENSMUST00000225132

Meta Mutation Damage Score

0.0681

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,078,382 (GRCm39)	I13N	probably damaging	Het
Abcd3	T	A	3: 121,567,815 (GRCm39)	T409S	possibly damaging	Het
Acad12	C	A	5: 121,745,234 (GRCm39)	W317L	probably damaging	Het
Acap1	T	A	11: 69,780,294 (GRCm39)	M50L	probably benign	Het
Acvr1b	T	A	15: 101,100,867 (GRCm39)	V343E	probably damaging	Het
Adgb	C	A	10: 10,302,454 (GRCm39)	G371W	probably damaging	Het
Akap9	A	G	5: 4,082,774 (GRCm39)	K1966R	probably damaging	Het
Akap9	C	T	5: 4,114,515 (GRCm39)	Q48*	probably null	Het
Ano10	T	C	9: 122,092,853 (GRCm39)	R159G	probably damaging	Het
Arhgef40	C	A	14: 52,228,416 (GRCm39)	C554*	probably null	Het
Atf6	T	C	1: 170,614,979 (GRCm39)	Y538C	probably damaging	Het
Atp8b1	A	C	18: 64,671,749 (GRCm39)	D1091E	probably benign	Het
BC034090	A	G	1: 155,102,010 (GRCm39)	Y85H	possibly damaging	Het
Bcas2	A	G	3: 103,083,017 (GRCm39)		probably benign	Het
Bnc2	T	C	4: 84,211,056 (GRCm39)	N463D	probably damaging	Het
Capn7	A	T	14: 31,081,216 (GRCm39)	H411L	possibly damaging	Het
Cavin3	T	C	7: 105,130,320 (GRCm39)	E164G	probably damaging	Het
Ccdc191	T	C	16: 43,759,536 (GRCm39)		probably benign	Het
Ccdc88b	A	G	19: 6,830,368 (GRCm39)	V858A	probably benign	Het
Clcn3	A	G	8: 61,383,685 (GRCm39)		probably benign	Het
Commd6	T	C	14: 101,877,720 (GRCm39)		probably benign	Het
Cspg4b	C	A	13: 113,505,341 (GRCm39)	L2157I	probably damaging	Het
Cspg4b	T	G	13: 113,505,342 (GRCm39)	L2157R	probably damaging	Het
Cul3	G	A	1: 80,249,391 (GRCm39)	L561F	probably damaging	Het
Cyfip1	T	A	7: 55,524,761 (GRCm39)	I131N	probably damaging	Het
Dlgap3	T	A	4: 127,127,554 (GRCm39)	Y741N	probably damaging	Het
Dnaaf10	T	C	11: 17,179,794 (GRCm39)	V265A	probably benign	Het
Dnah5	A	T	15: 28,295,406 (GRCm39)	I1380F	possibly damaging	Het
Dync1h1	G	T	12: 110,628,975 (GRCm39)	L4177F	probably damaging	Het
Ethe1	G	A	7: 24,307,319 (GRCm39)	V178M	probably damaging	Het
Flnc	A	T	6: 29,445,153 (GRCm39)		probably null	Het
Get3	C	T	8: 85,745,502 (GRCm39)	A219T	probably benign	Het
Glt8d1	T	C	14: 30,728,649 (GRCm39)	F26L	probably benign	Het
Gm5493	T	A	17: 22,967,054 (GRCm39)	D63E	probably benign	Het
Gm9996	T	A	10: 29,019,834 (GRCm39)		probably benign	Het
Gnl2	T	G	4: 124,947,266 (GRCm39)	S629R	possibly damaging	Het
Gpbp1l1	T	C	4: 116,447,462 (GRCm39)	S381P	probably damaging	Het
Igsf10	A	C	3: 59,233,370 (GRCm39)	F1788V	probably benign	Het
Inpp5d	C	A	1: 87,642,864 (GRCm39)	P935Q	probably damaging	Het
Itch	A	C	2: 155,041,355 (GRCm39)	I468L	probably benign	Het
Itga5	A	T	15: 103,265,637 (GRCm39)	Y192N	probably damaging	Het
Itih3	T	A	14: 30,643,643 (GRCm39)	Q121L	possibly damaging	Het
Itih3	T	A	14: 30,640,906 (GRCm39)	Q302L	probably null	Het
Kctd17	T	A	15: 78,319,959 (GRCm39)		probably benign	Het
Lsm1	T	C	8: 26,283,717 (GRCm39)	L43P	probably damaging	Het
Magi3	A	T	3: 103,923,141 (GRCm39)	M1192K	probably benign	Het
Mecom	A	G	3: 30,322,817 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,483,606 (GRCm39)	V597A	probably damaging	Het
Mtmr3	A	T	11: 4,477,855 (GRCm39)	F63Y	probably benign	Het
Naa16	A	G	14: 79,573,788 (GRCm39)		probably benign	Het
Neto1	A	T	18: 86,416,427 (GRCm39)	T45S	possibly damaging	Het
Nlrp4a	A	T	7: 26,149,654 (GRCm39)	R420S	probably damaging	Het
Nr1h4	T	C	10: 89,309,736 (GRCm39)	D317G	probably damaging	Het
Or8b53	A	G	9: 38,666,955 (GRCm39)		probably benign	Het
Or9i16	C	T	19: 13,864,765 (GRCm39)	D270N	probably damaging	Het
Or9q2	T	A	19: 13,772,838 (GRCm39)	I46F	possibly damaging	Het
Pde5a	A	T	3: 122,541,542 (GRCm39)	M11L	possibly damaging	Het
Plxnb1	G	A	9: 108,939,503 (GRCm39)	R1416Q	possibly damaging	Het
Polm	A	T	11: 5,785,749 (GRCm39)	Y141*	probably null	Het
Rxfp1	A	G	3: 79,612,975 (GRCm39)	F32L	probably damaging	Het
Scrt1	T	A	15: 76,405,868 (GRCm39)	D13V	possibly damaging	Het
Slc1a7	T	A	4: 107,834,871 (GRCm39)	V79E	possibly damaging	Het
Snurf	T	C	7: 59,645,270 (GRCm39)	Q48R	probably benign	Het
Srek1	T	C	13: 103,894,695 (GRCm39)		probably benign	Het
Stxbp5l	T	C	16: 37,076,246 (GRCm39)	S267G	probably damaging	Het
Taf5	C	T	19: 47,063,409 (GRCm39)	R320W	probably damaging	Het
Tars2	A	T	3: 95,660,403 (GRCm39)	N106K	probably damaging	Het
Tatdn3	A	T	1: 190,781,531 (GRCm39)	L207Q	probably damaging	Het
Tdrd6	T	C	17: 43,938,501 (GRCm39)	E849G	probably damaging	Het
Tedc2	T	C	17: 24,438,985 (GRCm39)	T111A	probably benign	Het
Tfg	T	A	16: 56,514,854 (GRCm39)		probably null	Het
Tgds	A	T	14: 118,353,643 (GRCm39)	S225T	probably benign	Het
Tnks2	T	A	19: 36,852,671 (GRCm39)	Y134*	probably null	Het
Trappc1	T	A	11: 69,216,356 (GRCm39)	V134D	probably damaging	Het
Ttc3	C	A	16: 94,243,620 (GRCm39)	P853Q	probably damaging	Het
Ttc7	C	A	17: 87,678,163 (GRCm39)		probably benign	Het
Ttf1	A	G	2: 28,964,606 (GRCm39)	S643G	probably damaging	Het
Tubgcp3	A	T	8: 12,700,171 (GRCm39)	S338T	probably damaging	Het
Ugt1a6a	T	C	1: 88,067,007 (GRCm39)	I271T	possibly damaging	Het
Vipas39	T	A	12: 87,288,075 (GRCm39)	Y445F	probably damaging	Het
Vmn1r31	A	C	6: 58,448,998 (GRCm39)	I289S	probably damaging	Het
Zfp112	A	G	7: 23,825,685 (GRCm39)	E551G	probably damaging	Het
Zfp397	T	A	18: 24,093,854 (GRCm39)	Y446*	probably null	Het
Zfp442	A	T	2: 150,251,526 (GRCm39)	H124Q	probably damaging	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
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
R7811:Anxa7	UTSW	14	20,510,254 (GRCm39)	missense	probably benign
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'- AGAGGGACAACATTATCACCTG -3'
(R):5'- GTGTGTGCAGAAAGGTGTACC -3'

Sequencing Primer
(F):5'- GGAGGCTGCTCTTACCAAATGTATC -3'
(R):5'- GGTGTACCAAAACCCACTGTTC -3'

Posted On

2015-10-08