Mutagenetix > Incidental Mutation

Incidental Mutation 'R5000:Anxa4'

389812

Institutional Source

Beutler Lab

Gene Symbol

Anxa4

Ensembl Gene

ENSMUSG00000029994

Gene Name

annexin A4

Synonyms

Anx4, Xanx-4, annexin IV, AIV

MMRRC Submission

042594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R5000 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

86713822-86770566 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to T at 86742766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145421 (fasta)

Gene Model

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

AlphaFold

P97429

Predicted Effect

probably benign
Transcript: ENSMUST00000001187

SMART Domains

Protein: ENSMUSP00000001187
Gene: ENSMUSG00000029994

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

SMART Domains

Protein: ENSMUSP00000109305
Gene: ENSMUSG00000029994

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

SMART Domains

Protein: ENSMUSP00000115346
Gene: ENSMUSG00000029994

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

probably benign
Transcript: ENSMUST00000204398

SMART Domains

Protein: ENSMUSP00000144961
Gene: ENSMUSG00000029994

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

SMART Domains

Protein: ENSMUSP00000145421
Gene: ENSMUSG00000029994

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: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (97/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,255,946 (GRCm39)	F11Y	probably benign	Het
Abca5	A	G	11: 110,201,050 (GRCm39)	L450P	probably damaging	Het
Abi1	T	A	2: 22,840,211 (GRCm39)	R357W	probably damaging	Het
Acot7	G	A	4: 152,270,820 (GRCm39)	G55R	probably benign	Het
Aicda	G	A	6: 122,538,826 (GRCm39)	V14I	probably damaging	Het
Apobr	T	A	7: 126,185,729 (GRCm39)	D413E	possibly damaging	Het
Ash1l	T	C	3: 88,965,941 (GRCm39)	Y2448H	probably damaging	Het
Atf7ip	A	G	6: 136,559,426 (GRCm39)	E749G	probably damaging	Het
Atp8b3	A	T	10: 80,357,676 (GRCm39)	N1114K	possibly damaging	Het
Bdnf	C	A	2: 109,553,993 (GRCm39)	N122K	probably benign	Het
Boc	A	T	16: 44,310,517 (GRCm39)	I801N	probably damaging	Het
Brap	A	T	5: 121,800,089 (GRCm39)	K37*	probably null	Het
Ccar1	C	T	10: 62,586,784 (GRCm39)	E885K	unknown	Het
Ccdc103	A	G	11: 102,774,932 (GRCm39)	N177S	probably benign	Het
Ccdc116	G	A	16: 16,959,657 (GRCm39)	P344L	possibly damaging	Het
Cdca5	T	C	19: 6,135,463 (GRCm39)	S28P	possibly damaging	Het
Ceacam20	T	C	7: 19,699,453 (GRCm39)	I14T	probably damaging	Het
Chrnb1	A	T	11: 69,677,858 (GRCm39)	V298E	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Csnk1a1	T	C	18: 61,711,840 (GRCm39)	F97L	probably damaging	Het
Dag1	A	T	9: 108,085,216 (GRCm39)	S642T	probably benign	Het
Dedd2	A	G	7: 24,903,068 (GRCm39)	V297A	possibly damaging	Het
Dhcr7	C	T	7: 143,395,060 (GRCm39)	T189M	possibly damaging	Het
Dlgap1	T	C	17: 71,073,053 (GRCm39)	S691P	probably damaging	Het
Dmgdh	A	C	13: 93,825,046 (GRCm39)	H123P	probably damaging	Het
Dnah6	C	T	6: 73,121,798 (GRCm39)	V1395I	probably benign	Het
Dnah7a	T	C	1: 53,606,201 (GRCm39)	Y1273C	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Elac2	T	C	11: 64,876,379 (GRCm39)	F3L	probably benign	Het
Elovl7	A	T	13: 108,410,915 (GRCm39)	K163N	probably benign	Het
Epg5	T	C	18: 77,997,376 (GRCm39)	V413A	probably benign	Het
Espl1	T	A	15: 102,206,986 (GRCm39)	L150Q	probably damaging	Het
F2rl3	T	A	8: 73,489,307 (GRCm39)	L178Q	probably damaging	Het
Fam120a	T	C	13: 49,051,143 (GRCm39)	E754G	probably damaging	Het
Fam53b	T	C	7: 132,317,730 (GRCm39)	N304S	probably benign	Het
Fbxo41	T	C	6: 85,460,901 (GRCm39)	E269G	probably damaging	Het
Fcrla	T	C	1: 170,749,959 (GRCm39)	T4A	probably benign	Het
Frmpd1	A	T	4: 45,261,931 (GRCm39)		probably null	Het
Gm9376	A	G	14: 118,504,702 (GRCm39)	M45V	probably benign	Het
Gpr68	G	A	12: 100,844,596 (GRCm39)	A316V	probably benign	Het
Hmgcl	G	A	4: 135,689,511 (GRCm39)	C323Y	probably benign	Het
Hnrnpu	T	C	1: 178,156,941 (GRCm39)		probably benign	Het
Ier2	T	A	8: 85,389,353 (GRCm39)	I10F	probably damaging	Het
Ip6k1	C	T	9: 107,922,798 (GRCm39)	Q234*	probably null	Het
Llgl2	T	C	11: 115,735,728 (GRCm39)	V108A	probably benign	Het
Lrfn3	T	C	7: 30,059,805 (GRCm39)	N140S	possibly damaging	Het
Lrig1	T	A	6: 94,588,430 (GRCm39)	H573L	probably damaging	Het
Lrrk2	T	A	15: 91,634,081 (GRCm39)	W1393R	probably damaging	Het
Mrc1	T	A	2: 14,249,000 (GRCm39)	Y179N	probably damaging	Het
Mtfr1	C	T	3: 19,265,743 (GRCm39)	L93F	probably damaging	Het
Muc19	T	C	15: 91,757,429 (GRCm39)		noncoding transcript	Het
Ndst2	C	T	14: 20,774,975 (GRCm39)		probably null	Het
Nmd3	A	T	3: 69,624,735 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,172,593 (GRCm39)	Y784C	probably damaging	Het
Or4a27	A	T	2: 88,559,910 (GRCm39)	I11N	probably damaging	Het
Or7a36	G	A	10: 78,820,514 (GRCm39)	V297I	probably benign	Het
Papln	A	G	12: 83,821,663 (GRCm39)	Y297C	probably damaging	Het
Pdhx	T	C	2: 102,871,385 (GRCm39)		probably null	Het
Pdpk1	T	C	17: 24,330,019 (GRCm39)	T6A	possibly damaging	Het
Prcp	T	C	7: 92,568,368 (GRCm39)	W267R	probably damaging	Het
Prg2	T	C	2: 84,812,367 (GRCm39)	S26P	probably benign	Het
Psg26	A	T	7: 18,214,057 (GRCm39)	Y202N	possibly damaging	Het
Psrc1	T	C	3: 108,287,839 (GRCm39)		probably benign	Het
Rap1gds1	A	T	3: 138,662,011 (GRCm39)	M366K	probably damaging	Het
Robo4	G	T	9: 37,319,664 (GRCm39)	R527L	probably benign	Het
Sel1l3	G	A	5: 53,357,776 (GRCm39)	T72M	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	A	G	5: 12,498,005 (GRCm39)	T4A	probably benign	Het
Shroom1	A	T	11: 53,357,944 (GRCm39)		probably benign	Het
Slc25a19	T	C	11: 115,507,497 (GRCm39)		probably null	Het
Snx29	A	C	16: 11,221,371 (GRCm39)	I266L	probably damaging	Het
Spo11	T	C	2: 172,831,193 (GRCm39)	S255P	probably damaging	Het
Spock3	T	C	8: 63,698,158 (GRCm39)	V167A	possibly damaging	Het
Tmc7	A	G	7: 118,158,077 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,170,743 (GRCm39)	V509A	possibly damaging	Het
Trim24	A	G	6: 37,935,547 (GRCm39)	D880G	probably benign	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr4	T	A	4: 139,163,480 (GRCm39)	C2627S	probably damaging	Het
Unc5d	A	T	8: 29,205,775 (GRCm39)	M512K	possibly damaging	Het
Usp18	A	G	6: 121,229,479 (GRCm39)	R33G	possibly damaging	Het
Utp23	T	A	15: 51,745,569 (GRCm39)	V23D	probably damaging	Het
Wdr17	T	A	8: 55,118,161 (GRCm39)	M512L	possibly damaging	Het
Wdr64	T	A	1: 175,553,941 (GRCm39)		probably null	Het
Zbtb6	T	C	2: 37,319,251 (GRCm39)	T226A	probably benign	Het
Zc3hc1	T	A	6: 30,375,987 (GRCm39)	H191L	possibly damaging	Het
Zdhhc4	C	A	5: 143,310,688 (GRCm39)	C48F	probably damaging	Het
Zfp335	T	A	2: 164,736,588 (GRCm39)	T1016S	probably benign	Het
Zfp583	A	G	7: 6,328,473 (GRCm39)	Y39H	probably damaging	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
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
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'- GCTTTGCAGAGAGAAAACCATTAC -3'
(R):5'- ATTAACCTGGTCCTGGAGCTC -3'

Sequencing Primer
(F):5'- CCTTTAATCCTAGAACTTGGGAGGC -3'
(R):5'- TCTGGCTCCTCCACAGGTG -3'

Posted On

2016-06-06