Mutagenetix > Incidental Mutation

Incidental Mutation 'R2341:Anxa4'

246748

Institutional Source

Beutler Lab

Gene Symbol

Anxa4

Ensembl Gene

ENSMUSG00000029994

Gene Name

annexin A4

Synonyms

Anx4, Xanx-4, annexin IV, AIV

MMRRC Submission

040327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R2341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86713822-86770566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86720135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 144 (S144P)

Ref Sequence

ENSEMBL: ENSMUSP00000117378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001187] [ENSMUST00000113675] [ENSMUST00000123732] [ENSMUST00000127152] [ENSMUST00000155456] [ENSMUST00000204398] [ENSMUST00000204441]

AlphaFold

P97429

Predicted Effect

probably benign
Transcript: ENSMUST00000001187
AA Change: S248P

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000001187
Gene: ENSMUSG00000029994
AA Change: S248P

Domain	Start	End	E-Value	Type
ANX	31	83	1.66e-20	SMART
ANX	103	155	6.69e-25	SMART
ANX	187	239	9.84e-23	SMART
ANX	262	314	2.37e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113675
AA Change: S248P

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109305
Gene: ENSMUSG00000029994
AA Change: S248P

Domain	Start	End	E-Value	Type
ANX	31	83	1.66e-20	SMART
ANX	103	155	6.69e-25	SMART
ANX	187	239	9.84e-23	SMART
ANX	262	314	2.37e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123732
AA Change: S226P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000115346
Gene: ENSMUSG00000029994
AA Change: S226P

Domain	Start	End	E-Value	Type
ANX	31	79	1.6e-13	SMART
ANX	81	133	6.69e-25	SMART
ANX	165	217	9.84e-23	SMART
Pfam:Annexin	227	254	1.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127152

SMART Domains

Protein: ENSMUSP00000138194
Gene: ENSMUSG00000029994

Domain	Start	End	E-Value	Type
ANX	31	83	1.66e-20	SMART
ANX	103	155	6.69e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135921

Predicted Effect

probably benign
Transcript: ENSMUST00000155456
AA Change: S144P

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117378
Gene: ENSMUSG00000029994
AA Change: S144P

Domain	Start	End	E-Value	Type
ANX	22	69	1.06e-2	SMART
ANX	83	135	9.84e-23	SMART
ANX	158	210	2.37e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204398
AA Change: S248P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000144961
Gene: ENSMUSG00000029994
AA Change: S248P

Domain	Start	End	E-Value	Type
ANX	31	83	7.1e-23	SMART
ANX	103	155	2.8e-27	SMART
ANX	187	239	4.3e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204441
AA Change: S248P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145421
Gene: ENSMUSG00000029994
AA Change: S248P

Domain	Start	End	E-Value	Type
ANX	31	83	7.1e-23	SMART
ANX	103	155	2.8e-27	SMART
ANX	187	239	4.3e-25	SMART
Pfam:Annexin	249	274	5.4e-6	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

97% (36/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a gene-trapped allele often display abnormal maternal nurturing behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 59,888,212 (GRCm39)	V76A	possibly damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Anapc4	T	C	5: 52,999,279 (GRCm39)		probably benign	Het
Bcr	A	G	10: 74,966,944 (GRCm39)	E517G	probably damaging	Het
Ccdc57	T	C	11: 120,751,349 (GRCm39)	E907G	probably benign	Het
Chd6	TG	T	2: 160,807,679 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,750,782 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,177,757 (GRCm39)	K2031E	probably damaging	Het
Gm5444	T	C	13: 4,884,344 (GRCm39)		noncoding transcript	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Ifna16	A	G	4: 88,594,565 (GRCm39)	S177P	probably damaging	Het
Ino80d	T	C	1: 63,104,985 (GRCm39)	N364D	possibly damaging	Het
Ltbp2	T	C	12: 84,855,937 (GRCm39)	T769A	probably benign	Het
Ms4a20	T	A	19: 11,083,157 (GRCm39)	M88L	probably benign	Het
Mug1	T	C	6: 121,861,588 (GRCm39)	V1350A	probably benign	Het
Nedd9	A	G	13: 41,469,987 (GRCm39)	S389P	probably damaging	Het
Or10ag57	A	T	2: 87,218,084 (GRCm39)	I12F	probably benign	Het
Or4c11b	A	G	2: 88,624,989 (GRCm39)	N88D	probably benign	Het
Or8h8	T	C	2: 86,752,982 (GRCm39)	K298R	possibly damaging	Het
Pole	A	T	5: 110,478,829 (GRCm39)	I28F	possibly damaging	Het
Prkce	C	A	17: 86,781,870 (GRCm39)	P180T	probably damaging	Het
Ralgapa1	T	C	12: 55,723,909 (GRCm39)	H1995R	possibly damaging	Het
Rnf144b	A	G	13: 47,373,976 (GRCm39)	K58E	probably benign	Het
Rnf43	A	G	11: 87,622,851 (GRCm39)	R651G	probably damaging	Het
Scel	A	T	14: 103,845,606 (GRCm39)	L580F	possibly damaging	Het
Scn4b	G	A	9: 45,059,127 (GRCm39)	V133M	probably damaging	Het
Sipa1l3	T	C	7: 29,077,060 (GRCm39)	N904S	probably damaging	Het
Sun5	A	G	2: 153,709,422 (GRCm39)		probably benign	Het
Tanc2	T	C	11: 105,725,877 (GRCm39)	V347A	probably benign	Het
Tmem245	T	C	4: 56,937,957 (GRCm39)	Y197C	probably damaging	Het
Usp30	C	T	5: 114,249,241 (GRCm39)	R182*	probably null	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vps35	T	C	8: 86,001,443 (GRCm39)		probably benign	Het
Xkr7	G	A	2: 152,896,318 (GRCm39)	V391M	possibly damaging	Het
Ythdf3	A	T	3: 16,257,379 (GRCm39)		probably benign	Het
Zfp110	T	C	7: 12,583,113 (GRCm39)	V587A	probably benign	Het

Other mutations in Anxa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01355:Anxa4	APN	6	86,729,187 (GRCm39)	missense	probably damaging	1.00
IGL02601:Anxa4	APN	6	86,737,683 (GRCm39)	missense	probably benign	0.00
R0423:Anxa4	UTSW	6	86,737,719 (GRCm39)	missense	probably damaging	1.00
R0948:Anxa4	UTSW	6	86,718,913 (GRCm39)	missense	probably damaging	1.00
R1846:Anxa4	UTSW	6	86,718,893 (GRCm39)	splice site	probably null
R4058:Anxa4	UTSW	6	86,734,800 (GRCm39)	critical splice donor site	probably null
R5000:Anxa4	UTSW	6	86,742,766 (GRCm39)	utr 5 prime	probably benign
R5390:Anxa4	UTSW	6	86,730,865 (GRCm39)	missense	probably damaging	1.00
R6503:Anxa4	UTSW	6	86,721,649 (GRCm39)	missense	probably damaging	1.00
R6897:Anxa4	UTSW	6	86,720,160 (GRCm39)	critical splice acceptor site	probably null
R7625:Anxa4	UTSW	6	86,714,801 (GRCm39)	missense	probably damaging	1.00
R8092:Anxa4	UTSW	6	86,718,873 (GRCm39)	missense	probably damaging	1.00
R9239:Anxa4	UTSW	6	86,734,812 (GRCm39)	missense	probably benign
R9352:Anxa4	UTSW	6	86,742,775 (GRCm39)	start gained	probably benign
R9646:Anxa4	UTSW	6	86,730,814 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTATAGAGCGCAGGGATCAG -3'
(R):5'- TTGGGACTTTGTAGAAACTGAGAC -3'

Sequencing Primer
(F):5'- GGATCAGGGCTCCACACATC -3'
(R):5'- TGTAGAAACTGAGACTGTCATTTTTC -3'

Posted On

2014-10-30