Mutagenetix > Incidental Mutation

Incidental Mutation 'R5354:Anxa7'

423995

Institutional Source

Beutler Lab

Gene Symbol

Anxa7

Ensembl Gene

ENSMUSG00000021814

Gene Name

annexin A7

Synonyms

Anx7, synexin

MMRRC Submission

042933-MU

Accession Numbers

Essential gene?

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

Stock #

R5354 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20505328-20530201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20514977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 177 (L177P)

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: L155P

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814
AA Change: L155P

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

possibly damaging
Transcript: ENSMUST00000100844
AA Change: L177P

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814
AA Change: L177P

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: ENSMUST00000224410

Predicted Effect

probably benign
Transcript: ENSMUST00000224975
AA Change: L155P

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225118

Predicted Effect

probably benign
Transcript: ENSMUST00000225941
AA Change: L13P

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (80/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,436,535 (GRCm39)	K196R	probably benign	Het
Ablim1	T	C	19: 57,119,355 (GRCm39)	E243G	probably benign	Het
Acat1	T	A	9: 53,500,483 (GRCm39)	E271V	possibly damaging	Het
Aco1	T	C	4: 40,180,290 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Agbl3	T	A	6: 34,791,687 (GRCm39)	H596Q	probably benign	Het
Atp11a	A	T	8: 12,856,753 (GRCm39)	N48I	probably damaging	Het
Bcas1	T	A	2: 170,191,316 (GRCm39)	N492I	possibly damaging	Het
Bclaf1	A	G	10: 20,209,278 (GRCm39)	Y498C	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Ccdc170	G	A	10: 4,484,188 (GRCm39)	C338Y	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Ckap2	A	C	8: 22,667,581 (GRCm39)	N93K	probably damaging	Het
Clca3a1	A	T	3: 144,442,766 (GRCm39)	S759R	possibly damaging	Het
Coro1c	A	T	5: 113,984,226 (GRCm39)	I347N	possibly damaging	Het
Cpox	A	G	16: 58,491,205 (GRCm39)	T139A	probably damaging	Het
Cyp4a12b	C	A	4: 115,290,661 (GRCm39)		probably null	Het
Dctn1	T	G	6: 83,160,108 (GRCm39)	V116G	possibly damaging	Het
Dhx38	A	G	8: 110,282,378 (GRCm39)	V683A	probably damaging	Het
Dnah12	G	A	14: 26,496,299 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,292,208 (GRCm39)	E43G	probably damaging	Het
Dsc1	A	T	18: 20,220,632 (GRCm39)	V714E	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Egfem1	T	C	3: 29,136,361 (GRCm39)		probably null	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmo1	T	C	1: 162,657,714 (GRCm39)	T476A	probably benign	Het
Gm10237	T	C	16: 35,741,099 (GRCm39)		noncoding transcript	Het
Gm14496	A	G	2: 181,642,602 (GRCm39)	S758G	probably damaging	Het
Gpat2	T	A	2: 127,270,643 (GRCm39)	L97Q	probably damaging	Het
Gpr162	T	C	6: 124,836,600 (GRCm39)	D357G	probably benign	Het
Hax1	A	T	3: 89,905,262 (GRCm39)	D34E	probably damaging	Het
Hmgcr	C	T	13: 96,791,404 (GRCm39)	V97M	probably benign	Het
Hsd3b2	T	C	3: 98,619,631 (GRCm39)	T105A	probably benign	Het
Ints1	A	G	5: 139,752,183 (GRCm39)		probably null	Het
Islr	T	C	9: 58,064,895 (GRCm39)	E204G	probably damaging	Het
Lrrc36	A	G	8: 106,151,996 (GRCm39)	N60D	probably damaging	Het
Maf1	T	C	15: 76,237,330 (GRCm39)		probably benign	Het
Mrgprb4	T	A	7: 47,848,077 (GRCm39)	R284W	probably benign	Het
Myh4	A	T	11: 67,146,551 (GRCm39)	N1508I	possibly damaging	Het
Nufip2	A	G	11: 77,577,103 (GRCm39)	H17R	unknown	Het
Oasl1	A	T	5: 115,075,055 (GRCm39)	I372L	probably damaging	Het
Or5ae1	T	A	7: 84,565,357 (GRCm39)	Y123*	probably null	Het
Or6p1	T	C	1: 174,258,252 (GRCm39)	L86P	probably damaging	Het
Pald1	A	T	10: 61,184,440 (GRCm39)	Y226N	probably damaging	Het
Pcdhb13	G	T	18: 37,577,844 (GRCm39)	G741C	probably damaging	Het
Pcdhga10	A	G	18: 37,881,259 (GRCm39)	D340G	probably damaging	Het
Pclo	C	A	5: 14,728,822 (GRCm39)		probably benign	Het
Pcsk4	G	T	10: 80,159,523 (GRCm39)	N416K	probably damaging	Het
Pde10a	C	A	17: 9,180,812 (GRCm39)	R398S	probably damaging	Het
Plin1	T	A	7: 79,375,469 (GRCm39)	T227S	possibly damaging	Het
Pnpt1	A	G	11: 29,104,166 (GRCm39)	D542G	probably damaging	Het
Ppp4r3b	T	A	11: 29,161,646 (GRCm39)	D673E	probably benign	Het
Prr18	C	A	17: 8,559,892 (GRCm39)	P16Q	probably damaging	Het
Psmc3	T	A	2: 90,889,698 (GRCm39)	Y440N	probably damaging	Het
Rassf5	T	C	1: 131,108,385 (GRCm39)	I232V	probably benign	Het
Rims1	T	A	1: 22,577,592 (GRCm39)	D218V	probably damaging	Het
Skint10	T	C	4: 112,568,790 (GRCm39)	N309S	possibly damaging	Het
Slc6a1	T	C	6: 114,279,584 (GRCm39)	M121T	possibly damaging	Het
Slit3	A	G	11: 35,566,740 (GRCm39)	D1004G	probably damaging	Het
Snap91	C	T	9: 86,717,177 (GRCm39)	V215I	possibly damaging	Het
Son	T	C	16: 91,452,627 (GRCm39)	L458S	probably damaging	Het
St18	C	T	1: 6,914,395 (GRCm39)	A782V	probably damaging	Het
Synpo	A	G	18: 60,735,303 (GRCm39)		probably null	Het
Thbs3	A	G	3: 89,128,684 (GRCm39)	D458G	probably damaging	Het
Tpr	C	T	1: 150,321,675 (GRCm39)	R3C	probably damaging	Het
Trp63	A	G	16: 25,503,105 (GRCm39)		probably null	Het
Vmn1r27	C	A	6: 58,192,581 (GRCm39)	R141L	probably benign	Het
Wnk1	T	C	6: 119,945,484 (GRCm39)	I699V	probably benign	Het
Xkr6	A	G	14: 64,056,353 (GRCm39)	D88G	possibly damaging	Het
Zan	A	G	5: 137,379,050 (GRCm39)		probably benign	Het
Zbtb7b	T	C	3: 89,286,913 (GRCm39)		probably benign	Het
Zfp618	A	T	4: 62,998,265 (GRCm39)	D33V	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
R4676:Anxa7	UTSW	14	20,517,983 (GRCm39)	missense	probably benign	0.00
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'- ACATCCACAATTGCTTGCTCG -3'
(R):5'- CTGTTCATGAGGCCTGGTAATAC -3'

Sequencing Primer
(F):5'- CGTCTGTCCCTGGAAGAGTCATAG -3'
(R):5'- CATGAGGCCTGGTAATACATCTC -3'

Posted On

2016-08-04