Mutagenetix > Incidental Mutation

Incidental Mutation 'R8723:Anxa3'

662217

Institutional Source

Beutler Lab

Gene Symbol

Anxa3

Ensembl Gene

ENSMUSG00000029484

Gene Name

annexin A3

Synonyms

Anx3

MMRRC Submission

068615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8723 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96941244-96993827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96986206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 282 (I282V)

Ref Sequence

ENSEMBL: ENSMUSP00000031447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031447] [ENSMUST00000196126]

AlphaFold

O35639

Predicted Effect

probably benign
Transcript: ENSMUST00000031447
AA Change: I282V

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031447
Gene: ENSMUSG00000029484
AA Change: I282V

Domain	Start	End	E-Value	Type
ANX	35	87	5.74e-24	SMART
ANX	107	159	1.67e-25	SMART
ANX	191	243	3.67e-22	SMART
ANX	266	318	2.87e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196126

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,360,897 (GRCm39)	H465Q	probably benign	Het
Adam29	T	C	8: 56,324,513 (GRCm39)	H647R	probably damaging	Het
Adamtsl4	C	T	3: 95,584,426 (GRCm39)	R990Q	possibly damaging	Het
Adgrg7	T	G	16: 56,582,282 (GRCm39)	R285S	probably benign	Het
Alkbh1	A	G	12: 87,485,278 (GRCm39)	V115A	probably benign	Het
Ankrd50	A	C	3: 38,511,453 (GRCm39)	F305V	probably damaging	Het
Anpep	A	G	7: 79,488,686 (GRCm39)	S414P	probably damaging	Het
Aoah	T	G	13: 21,184,180 (GRCm39)	Y415D	possibly damaging	Het
Cacna1b	A	G	2: 24,548,510 (GRCm39)	V1188A	probably damaging	Het
Cnot1	A	G	8: 96,462,907 (GRCm39)	I1651T	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Ctnnd1	G	A	2: 84,450,384 (GRCm39)	P279S	probably benign	Het
Dnah10	A	T	5: 124,891,685 (GRCm39)	E3298V	probably damaging	Het
Ear14	C	T	14: 51,441,513 (GRCm39)	T123I	possibly damaging	Het
Elf3	A	G	1: 135,185,385 (GRCm39)	L43P	possibly damaging	Het
Exoc3l4	T	A	12: 111,397,092 (GRCm39)		probably benign	Het
Figla	A	G	6: 85,997,724 (GRCm39)	T151A	probably benign	Het
Fsd1l	A	G	4: 53,647,001 (GRCm39)	E56G	unknown	Het
Gm49359	A	T	13: 62,602,410 (GRCm39)	H263Q	probably damaging	Het
Gprc6a	A	T	10: 51,491,518 (GRCm39)	C744S	probably damaging	Het
Grhl1	G	A	12: 24,662,244 (GRCm39)		probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Itih3	T	A	14: 30,630,761 (GRCm39)	Q850L	probably damaging	Het
Kcnq5	A	G	1: 21,575,591 (GRCm39)	V285A	probably damaging	Het
Klc4	T	G	17: 46,951,626 (GRCm39)	E165A	probably benign	Het
Lrp2	T	C	2: 69,316,648 (GRCm39)	Y2111C	probably damaging	Het
Lyst	A	G	13: 13,887,342 (GRCm39)	E3057G	possibly damaging	Het
Macf1	G	A	4: 123,348,910 (GRCm39)	Q4006*	probably null	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Ms4a20	A	G	19: 11,083,055 (GRCm39)	Y122H	probably damaging	Het
Myh14	A	G	7: 44,272,407 (GRCm39)	F1466S	probably damaging	Het
Nrip1	T	C	16: 76,089,553 (GRCm39)	D668G	probably damaging	Het
Or5w17	T	C	2: 87,583,501 (GRCm39)	T279A	possibly damaging	Het
Or8k3	A	T	2: 86,058,786 (GRCm39)	H176Q	probably damaging	Het
P2rx1	C	A	11: 72,899,756 (GRCm39)	N120K	probably benign	Het
Pif1	T	A	9: 65,501,673 (GRCm39)	M569K	probably damaging	Het
Prkd2	G	A	7: 16,591,702 (GRCm39)	V578I	possibly damaging	Het
Rhobtb1	A	G	10: 69,106,101 (GRCm39)	Y284C	probably damaging	Het
Rps6kb1	T	C	11: 86,410,757 (GRCm39)	T164A	possibly damaging	Het
Rxfp1	T	C	3: 79,557,802 (GRCm39)	T559A	probably benign	Het
Sag	G	A	1: 87,751,175 (GRCm39)		probably null	Het
Smoc1	G	A	12: 81,182,586 (GRCm39)	V138I	possibly damaging	Het
Spag5	T	A	11: 78,212,215 (GRCm39)	I1081N	probably damaging	Het
Stk25	A	G	1: 93,553,666 (GRCm39)	I203T	probably damaging	Het
Strip2	T	A	6: 29,941,863 (GRCm39)	V611E	probably damaging	Het
Sulf1	A	T	1: 12,856,911 (GRCm39)	D54V	probably damaging	Het
Tacr2	A	G	10: 62,094,107 (GRCm39)	D188G	probably damaging	Het
Tmem237	A	T	1: 59,145,731 (GRCm39)	Y358N	probably damaging	Het
Trim27	A	C	13: 21,374,807 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,698,149 (GRCm39)	E139G	probably benign	Het
Ttc39a	T	A	4: 109,300,700 (GRCm39)		probably benign	Het
Tubgcp3	A	T	8: 12,671,899 (GRCm39)	I781N	probably damaging	Het
Uqcc1	C	T	2: 155,729,100 (GRCm39)	W21*	probably null	Het
Vmn2r117	A	T	17: 23,696,343 (GRCm39)	W355R	probably damaging	Het
Vmn2r89	T	C	14: 51,693,910 (GRCm39)	V420A	probably benign	Het
Zdhhc21	A	T	4: 82,762,439 (GRCm39)	I52K	probably benign	Het

Other mutations in Anxa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01984:Anxa3	APN	5	96,982,630 (GRCm39)	splice site	probably benign
IGL03243:Anxa3	APN	5	96,976,551 (GRCm39)	unclassified	probably benign
F6893:Anxa3	UTSW	5	96,972,853 (GRCm39)	unclassified	probably benign
R0026:Anxa3	UTSW	5	96,986,260 (GRCm39)	missense	probably benign	0.01
R0468:Anxa3	UTSW	5	96,958,958 (GRCm39)	missense	probably benign	0.00
R0562:Anxa3	UTSW	5	96,960,743 (GRCm39)	missense	possibly damaging	0.90
R0724:Anxa3	UTSW	5	96,976,607 (GRCm39)	missense	possibly damaging	0.70
R1442:Anxa3	UTSW	5	96,976,549 (GRCm39)	splice site	probably null
R2276:Anxa3	UTSW	5	96,978,349 (GRCm39)	critical splice donor site	probably null
R4922:Anxa3	UTSW	5	96,968,288 (GRCm39)	missense	probably damaging	1.00
R5108:Anxa3	UTSW	5	96,978,273 (GRCm39)	missense	possibly damaging	0.83
R5230:Anxa3	UTSW	5	96,986,171 (GRCm39)	missense	possibly damaging	0.47
R5529:Anxa3	UTSW	5	96,976,238 (GRCm39)	missense	probably benign	0.00
R5733:Anxa3	UTSW	5	96,968,331 (GRCm39)	missense	probably damaging	1.00
R5857:Anxa3	UTSW	5	96,976,651 (GRCm39)	critical splice donor site	probably null
R5902:Anxa3	UTSW	5	96,960,712 (GRCm39)	nonsense	probably null
R6558:Anxa3	UTSW	5	96,960,798 (GRCm39)	splice site	probably null
R6772:Anxa3	UTSW	5	96,958,972 (GRCm39)	missense	probably damaging	0.98
R7425:Anxa3	UTSW	5	96,982,680 (GRCm39)	missense	probably benign	0.30
R7515:Anxa3	UTSW	5	96,986,179 (GRCm39)	missense	probably damaging	1.00
R7619:Anxa3	UTSW	5	96,978,263 (GRCm39)	missense	probably damaging	1.00
R8018:Anxa3	UTSW	5	96,968,288 (GRCm39)	missense	probably damaging	1.00
R8197:Anxa3	UTSW	5	96,982,651 (GRCm39)	missense	probably benign	0.05
R8405:Anxa3	UTSW	5	96,978,295 (GRCm39)	missense	probably benign	0.00
R9046:Anxa3	UTSW	5	96,976,626 (GRCm39)	missense	probably damaging	0.99
R9119:Anxa3	UTSW	5	96,976,557 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCTCATTACAGGGGCTCAAAAC -3'
(R):5'- AGAGAGAAATGTGAGTCAGCCTATC -3'

Sequencing Primer
(F):5'- CATTACAGGGGCTCAAAACATATTTC -3'
(R):5'- AGTCAGCCTATCTGTGTTTTAAAGG -3'

Posted On

2021-03-08