Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01355:Anxa4'

75499

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Anxa4

Ensembl Gene

ENSMUSG00000029994

Gene Name

annexin A4

Synonyms

Anx4, Xanx-4, annexin IV, AIV

Accession Numbers

Essential gene?

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

Stock #

IGL01355

Quality Score

Status

Chromosome

Chromosomal Location

86713822-86770566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86729187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 140 (I140N)

Ref Sequence

ENSEMBL: ENSMUSP00000145421 (fasta)

Gene Model

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

AlphaFold

P97429

Predicted Effect

probably damaging
Transcript: ENSMUST00000001187
AA Change: I140N

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

SMART Domains

Protein: ENSMUSP00000001187
Gene: ENSMUSG00000029994
AA Change: I140N

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 damaging
Transcript: ENSMUST00000113675
AA Change: I140N

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

SMART Domains

Protein: ENSMUSP00000109305
Gene: ENSMUSG00000029994
AA Change: I140N

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 damaging
Transcript: ENSMUST00000123732
AA Change: I118N

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

SMART Domains

Protein: ENSMUSP00000115346
Gene: ENSMUSG00000029994
AA Change: I118N

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 damaging
Transcript: ENSMUST00000127152
AA Change: I140N

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

SMART Domains

Protein: ENSMUSP00000138194
Gene: ENSMUSG00000029994
AA Change: I140N

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

probably benign
Transcript: ENSMUST00000155456

SMART Domains

Protein: ENSMUSP00000117378
Gene: ENSMUSG00000029994

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 damaging
Transcript: ENSMUST00000204398
AA Change: I140N

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

SMART Domains

Protein: ENSMUSP00000144961
Gene: ENSMUSG00000029994
AA Change: I140N

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 damaging
Transcript: ENSMUST00000204441
AA Change: I140N

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

SMART Domains

Protein: ENSMUSP00000145421
Gene: ENSMUSG00000029994
AA Change: I140N

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

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajap1	C	T	4: 153,470,938 (GRCm39)	V290I	probably damaging	Het
Ankrd12	A	G	17: 66,277,335 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,268,087 (GRCm39)		probably benign	Het
Cd36	C	T	5: 18,018,072 (GRCm39)	V214I	possibly damaging	Het
Col24a1	T	C	3: 145,020,637 (GRCm39)	L336S	probably benign	Het
Dcc	C	T	18: 71,942,185 (GRCm39)	V311I	probably benign	Het
Gpr146	A	T	5: 139,364,659 (GRCm39)		probably benign	Het
Irf1	T	C	11: 53,665,187 (GRCm39)	V188A	probably benign	Het
Limk1	G	A	5: 134,686,754 (GRCm39)		probably benign	Het
Mcidas	T	C	13: 113,135,603 (GRCm39)	F342S	probably damaging	Het
Mctp1	A	G	13: 76,533,074 (GRCm39)	T141A	probably benign	Het
Mnd1	C	A	3: 84,023,784 (GRCm39)	A101S	probably benign	Het
Nsun7	T	C	5: 66,452,211 (GRCm39)	S466P	probably damaging	Het
Or2m13	C	T	16: 19,226,333 (GRCm39)	M145I	probably benign	Het
Or4g16	T	A	2: 111,137,438 (GRCm39)	I296K	probably benign	Het
Or52z12	A	G	7: 103,233,580 (GRCm39)	E117G	probably damaging	Het
Pik3c2g	G	T	6: 139,798,583 (GRCm39)	G371V	probably damaging	Het
Sdad1	A	G	5: 92,450,538 (GRCm39)	V199A	probably damaging	Het
Spg11	C	T	2: 121,943,637 (GRCm39)	V172I	probably benign	Het
Tas2r108	A	G	6: 40,470,685 (GRCm39)	T54A	possibly damaging	Het
Tmem121b	A	G	6: 120,469,427 (GRCm39)	L430P	probably damaging	Het
Traf3ip1	A	G	1: 91,446,019 (GRCm39)	D384G	probably damaging	Het
Trank1	A	G	9: 111,194,588 (GRCm39)	T871A	possibly damaging	Het
Vegfa	T	C	17: 46,336,347 (GRCm39)	M258V	possibly damaging	Het
Zbtb49	A	G	5: 38,367,960 (GRCm39)		probably null	Het

Other mutations in Anxa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2341:Anxa4	UTSW	6	86,720,135 (GRCm39)	missense	probably benign	0.38
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

Posted On

2013-10-07