Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Anxa7'

207039

Institutional Source

Beutler Lab

Gene Symbol

Anxa7

Ensembl Gene

ENSMUSG00000021814

Gene Name

annexin A7

Synonyms

Anx7, synexin

MMRRC Submission

039855-MU

Accession Numbers

Essential gene?

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

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20505328-20530201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20512732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 267 (I267N)

Ref Sequence

ENSEMBL: ENSMUSP00000153669 (fasta)

Gene Model

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

AlphaFold

Q07076

Predicted Effect

probably damaging
Transcript: ENSMUST00000065504
AA Change: I267N

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

SMART Domains

Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814
AA Change: I267N

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 damaging
Transcript: ENSMUST00000100844
AA Change: I289N

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

SMART Domains

Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814
AA Change: I289N

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: ENSMUST00000223960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224410

Predicted Effect

probably damaging
Transcript: ENSMUST00000224975
AA Change: I267N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225118

Predicted Effect

probably benign
Transcript: ENSMUST00000225941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226001

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,190,962 (GRCm39)	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,536,065 (GRCm39)		noncoding transcript	Het
Abca3	A	G	17: 24,585,171 (GRCm39)	D144G	probably benign	Het
Anxa2	T	A	9: 69,390,260 (GRCm39)	L121Q	probably damaging	Het
Asb14	A	T	14: 26,633,797 (GRCm39)	D334V	possibly damaging	Het
Batf3	A	G	1: 190,830,714 (GRCm39)	N20S	probably benign	Het
Bub1b	A	G	2: 118,468,920 (GRCm39)	H895R	probably benign	Het
C1qtnf12	G	A	4: 156,050,160 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,130,385 (GRCm39)	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,084,462 (GRCm39)	A527T	probably damaging	Het
Ccdc168	A	T	1: 44,096,234 (GRCm39)	N1621K	possibly damaging	Het
Ccdc92	T	C	5: 124,913,242 (GRCm39)	N96D	probably benign	Het
Ceacam18	T	A	7: 43,288,880 (GRCm39)	D210E	probably benign	Het
Cenpe	A	G	3: 134,952,257 (GRCm39)	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,440,932 (GRCm39)		probably null	Het
Cimip4	T	C	15: 78,270,588 (GRCm39)	Y60C	possibly damaging	Het
Cldn19	A	G	4: 119,112,990 (GRCm39)	D74G	probably benign	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,811,397 (GRCm39)	Q78L	probably benign	Het
Crot	T	C	5: 9,019,080 (GRCm39)	N491S	probably benign	Het
Cspg4b	T	A	13: 113,505,342 (GRCm39)	L2157Q	probably damaging	Het
Ctr9	A	G	7: 110,643,165 (GRCm39)		probably null	Het
Cyp4f14	T	G	17: 33,130,209 (GRCm39)	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240 (GRCm39)	V191I	probably benign	Het
Dnah10	A	T	5: 124,838,343 (GRCm39)	N1124I	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Epdr1	G	A	13: 19,778,773 (GRCm39)	Q6*	probably null	Het
Erbin	A	G	13: 103,996,577 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,525,217 (GRCm39)	I436K	probably damaging	Het
Exph5	A	T	9: 53,287,941 (GRCm39)	Q1674L	possibly damaging	Het
Fat4	A	T	3: 39,037,607 (GRCm39)	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,174,098 (GRCm39)	V763A	probably damaging	Het
Golim4	G	A	3: 75,809,745 (GRCm39)	T216I	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,245,143 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,469,694 (GRCm39)	Y70C	probably damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hecw2	T	C	1: 53,965,182 (GRCm39)	D548G	probably benign	Het
Hr	G	A	14: 70,809,477 (GRCm39)		probably null	Het
Hrg	A	C	16: 22,774,853 (GRCm39)	E161A	probably damaging	Het
Hydin	A	T	8: 111,237,526 (GRCm39)	N1933I	probably benign	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,570,252 (GRCm39)		probably null	Het
Mgat5b	C	A	11: 116,868,614 (GRCm39)	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,502,943 (GRCm39)	V999A	probably benign	Het
Mttp	G	T	3: 137,813,041 (GRCm39)	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nexn	A	G	3: 151,948,405 (GRCm39)	I386T	probably damaging	Het
Nrip3	A	G	7: 109,365,763 (GRCm39)	S85P	probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Olr1	T	C	6: 129,465,895 (GRCm39)	N37S	possibly damaging	Het
Or14j5	C	T	17: 38,161,966 (GRCm39)	A161V	probably benign	Het
Or4b1d	A	G	2: 89,968,931 (GRCm39)	L184S	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or5p80	G	T	7: 108,229,855 (GRCm39)	V219F	possibly damaging	Het
Pax4	T	C	6: 28,443,446 (GRCm39)	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,640,310 (GRCm39)	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,098,614 (GRCm39)	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,703,483 (GRCm39)	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Pygm	T	C	19: 6,447,637 (GRCm39)	I648T	possibly damaging	Het
Rab4a	A	T	8: 124,550,565 (GRCm39)	K15I	probably damaging	Het
Rasa3	T	C	8: 13,635,035 (GRCm39)	E428G	probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rpl3	C	T	15: 79,964,591 (GRCm39)	V222M	possibly damaging	Het
Rtl9	C	T	X: 141,886,011 (GRCm39)	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Sfswap	C	T	5: 129,590,148 (GRCm39)	T215I	probably damaging	Het
Slit2	A	G	5: 48,461,372 (GRCm39)	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,008,317 (GRCm39)	V44I	probably benign	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Tpd52	G	T	3: 9,012,579 (GRCm39)	N59K	probably damaging	Het
Trpc3	G	A	3: 36,692,695 (GRCm39)	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,510,331 (GRCm39)	V312D	probably damaging	Het
Xirp2	A	G	2: 67,345,582 (GRCm39)	N2608D	possibly damaging	Het
Zfp764l1	T	A	7: 126,991,081 (GRCm39)	H302L	probably damaging	Het
Zscan25	C	A	5: 145,227,858 (GRCm39)	H507Q	possibly 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
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
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'- ACTAGAAGAAATCTGTCCACTGC -3'
(R):5'- ACTTGCAGTGATGGATGAGGC -3'

Sequencing Primer
(F):5'- TGTGTTGTTCCACAAAGACACC -3'
(R):5'- AGGCACAGTGACTTGGTATC -3'

Posted On

2014-06-23