Mutagenetix > Incidental Mutation

Incidental Mutation 'R9646:Anxa4'

726726

Institutional Source

Beutler Lab

Gene Symbol

Anxa4

Ensembl Gene

ENSMUSG00000029994

Gene Name

annexin A4

Synonyms

Anx4, Xanx-4, annexin IV, AIV

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9646 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86713822-86770566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86730814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 121 (I121N)

Ref Sequence

ENSEMBL: ENSMUSP00000001187 (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: I121N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001187
Gene: ENSMUSG00000029994
AA Change: I121N

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: I121N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109305
Gene: ENSMUSG00000029994
AA Change: I121N

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

SMART Domains

Protein: ENSMUSP00000115346
Gene: ENSMUSG00000029994
AA Change: I99N

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: I121N

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

SMART Domains

Protein: ENSMUSP00000138194
Gene: ENSMUSG00000029994
AA Change: I121N

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

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: I121N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144961
Gene: ENSMUSG00000029994
AA Change: I121N

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: I121N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145421
Gene: ENSMUSG00000029994
AA Change: I121N

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,544,926 (GRCm39)	I723N	probably damaging	Het
Agbl1	G	A	7: 76,075,648 (GRCm39)	R682Q	unknown	Het
Ankrd42	A	T	7: 92,273,257 (GRCm39)	D123E	possibly damaging	Het
Asic1	T	C	15: 99,593,414 (GRCm39)	F257S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cckar	T	C	5: 53,863,608 (GRCm39)	T118A	probably benign	Het
Cfap61	T	A	2: 145,854,152 (GRCm39)	I388N	probably damaging	Het
Chrnd	A	T	1: 87,120,311 (GRCm39)	I156F	probably damaging	Het
Col15a1	T	A	4: 47,257,187 (GRCm39)	L326Q	possibly damaging	Het
Dcpp3	A	T	17: 24,138,156 (GRCm39)	I105L	possibly damaging	Het
Dnaaf5	T	A	5: 139,151,832 (GRCm39)	H494Q	probably benign	Het
Dph5	T	A	3: 115,708,692 (GRCm39)	Y125N	probably damaging	Het
Eif4enif1	T	C	11: 3,170,280 (GRCm39)	V111A	probably damaging	Het
Etl4	T	A	2: 20,802,724 (GRCm39)	I1010K	probably benign	Het
Faf1	T	A	4: 109,652,016 (GRCm39)	W236R	probably damaging	Het
Fat4	A	G	3: 39,035,813 (GRCm39)	D3155G	probably damaging	Het
Fhip2b	T	C	14: 70,827,808 (GRCm39)	H125R	probably damaging	Het
Firrm	A	G	1: 163,822,195 (GRCm39)	V32A	probably damaging	Het
Galnt12	T	C	4: 47,120,390 (GRCm39)	I491T	probably damaging	Het
Gm10553	T	A	1: 85,077,901 (GRCm39)	L6Q	probably damaging	Het
H2-T10	A	T	17: 36,431,157 (GRCm39)	I168N	probably damaging	Het
Hdac9	T	A	12: 34,487,167 (GRCm39)	Q78L	probably damaging	Het
Hmx1	C	T	5: 35,549,400 (GRCm39)	T231M	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Hsd17b13	T	C	5: 104,124,973 (GRCm39)	K70R	probably null	Het
Hykk	C	T	9: 54,853,521 (GRCm39)	T281I	probably benign	Het
Il1r2	A	G	1: 40,162,362 (GRCm39)	D335G	probably damaging	Het
Insig2	A	C	1: 121,240,040 (GRCm39)	L87V	probably damaging	Het
Insrr	A	T	3: 87,721,805 (GRCm39)	Y1193F	probably damaging	Het
Itpr1	A	G	6: 108,371,845 (GRCm39)	Y1173C	probably damaging	Het
Kcnh8	A	G	17: 53,104,573 (GRCm39)	N190S	probably benign	Het
Kntc1	T	C	5: 123,897,119 (GRCm39)	F161L	probably benign	Het
Lilra5	T	C	7: 4,244,907 (GRCm39)	L226P	probably damaging	Het
Muc2	C	T	7: 141,276,643 (GRCm39)	A11V	probably benign	Het
Nrp2	T	C	1: 62,777,566 (GRCm39)	F124L	probably damaging	Het
Or52e4	T	C	7: 104,706,374 (GRCm39)	I307T	probably benign	Het
Or5m11b	T	A	2: 85,806,446 (GRCm39)	N286K	probably benign	Het
Or5w15	T	A	2: 87,568,512 (GRCm39)	D52V	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,114 (GRCm39)	S8T	probably damaging	Het
Pcdhb17	A	T	18: 37,618,471 (GRCm39)	N87I	possibly damaging	Het
Pdgfrb	T	A	18: 61,211,721 (GRCm39)		probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pepd	A	T	7: 34,620,882 (GRCm39)	Q49L	possibly damaging	Het
Pigo	C	A	4: 43,017,967 (GRCm39)	R1083L	probably damaging	Het
Pitpnm1	G	A	19: 4,153,269 (GRCm39)	D142N	probably damaging	Het
Plod1	C	T	4: 148,016,112 (GRCm39)	E93K	probably benign	Het
Pramel11	A	T	4: 143,623,634 (GRCm39)	V180E	probably damaging	Het
Rev3l	T	C	10: 39,698,440 (GRCm39)	I979T	probably damaging	Het
Scrib	C	T	15: 75,932,492 (GRCm39)	G743D	probably damaging	Het
Septin3	T	C	15: 82,170,088 (GRCm39)	S205P	probably benign	Het
Sez6	A	G	11: 77,867,632 (GRCm39)	K850E	probably damaging	Het
Sfxn5	T	A	6: 85,266,195 (GRCm39)	T101S	probably damaging	Het
Slc6a5	A	T	7: 49,567,496 (GRCm39)	K317*	probably null	Het
Sox8	A	T	17: 25,786,871 (GRCm39)	D277E	probably benign	Het
Sptbn2	G	T	19: 4,795,341 (GRCm39)	A1600S	probably damaging	Het
Syne1	A	G	10: 5,179,187 (GRCm39)	V4429A	possibly damaging	Het
Tnrc6b	T	A	15: 80,773,266 (GRCm39)	F1137L	possibly damaging	Het
Trim43a	A	G	9: 88,466,392 (GRCm39)	R238G	probably benign	Het
Triobp	T	C	15: 78,887,934 (GRCm39)	L1943P	probably damaging	Het
Vmn1r125	T	C	7: 21,006,261 (GRCm39)	V53A	possibly damaging	Het
Vwa5b1	T	A	4: 138,319,420 (GRCm39)	N412I	probably damaging	Het
Yipf7	T	A	5: 69,678,424 (GRCm39)	T122S	probably benign	Het
Zfp1005	C	T	2: 150,110,104 (GRCm39)	H265Y	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
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

Predicted Primers

PCR Primer
(F):5'- ATGGGCTCCATCCCTAGTAC -3'
(R):5'- GTTTCTAGACCCTGTGAGCTG -3'

Sequencing Primer
(F):5'- TCCATCCCTAGTACCCGGGTAG -3'
(R):5'- GACCCTGTGAGCTGCTATTATAATC -3'

Posted On

2022-10-06