Mutagenetix > Incidental Mutation

Incidental Mutation 'R2213:Anxa1'

239564

Institutional Source

Beutler Lab

Gene Symbol

Anxa1

Ensembl Gene

ENSMUSG00000024659

Gene Name

annexin A1

Synonyms

Anx-1, Anx-A1, Lpc-1, Lpc1, C430014K04Rik

MMRRC Submission

040215-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

R2213 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20350798-20368035 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20360239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 124 (R124H)

Ref Sequence

ENSEMBL: ENSMUSP00000025561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025561]

AlphaFold

P10107

Predicted Effect

probably damaging
Transcript: ENSMUST00000025561
AA Change: R124H

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

SMART Domains

Protein: ENSMUSP00000025561
Gene: ENSMUSG00000024659
AA Change: R124H

Domain	Start	End	E-Value	Type
ANX	59	111	4.45e-21	SMART
ANX	131	183	3.9e-26	SMART
ANX	215	267	4.86e-13	SMART
ANX	290	342	2.26e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171423

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mutations in this gene result in increased inflammatory response and decreased macrophage activity. [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
Akr1c12	T	C	13: 4,326,247 (GRCm39)	D78G	probably damaging	Het
Arhgef4	G	A	1: 34,846,230 (GRCm39)		probably null	Het
C87436	G	A	6: 86,422,455 (GRCm39)	V10I	probably benign	Het
Ces1a	G	T	8: 93,751,853 (GRCm39)	P427Q	probably damaging	Het
Cpm	T	C	10: 117,495,744 (GRCm39)	Y78H	probably damaging	Het
Csmd3	G	A	15: 47,683,843 (GRCm39)	T1663I	possibly damaging	Het
Cul7	T	C	17: 46,962,398 (GRCm39)	F10L	probably damaging	Het
Cyp2j5	T	C	4: 96,547,852 (GRCm39)	N130S	probably benign	Het
Dclk1	G	A	3: 55,387,854 (GRCm39)	C100Y	probably damaging	Het
Ddb1	T	C	19: 10,585,691 (GRCm39)	L135P	probably damaging	Het
Dixdc1	A	G	9: 50,613,245 (GRCm39)	S211P	probably benign	Het
Dnah12	G	T	14: 26,460,485 (GRCm39)	K970N	probably benign	Het
Eps15	A	G	4: 109,218,417 (GRCm39)	K391E	probably damaging	Het
Fabp9	A	G	3: 10,259,860 (GRCm39)	V51A	probably damaging	Het
Flg	T	C	3: 93,200,335 (GRCm39)		probably benign	Het
Flnb	AAGGAG	AAG	14: 7,881,652 (GRCm38)		probably benign	Het
Fscb	A	T	12: 64,520,890 (GRCm39)	I192N	possibly damaging	Het
Galntl5	A	G	5: 25,422,527 (GRCm39)	I333V	probably benign	Het
Gcnt3	A	T	9: 69,941,989 (GRCm39)	V193E	probably benign	Het
Gle1	T	C	2: 29,839,313 (GRCm39)	F535S	probably damaging	Het
Gpr87	A	T	3: 59,086,465 (GRCm39)	S347T	probably damaging	Het
Gstm2	C	T	3: 107,893,409 (GRCm39)	R18H	probably damaging	Het
H1f7	T	A	15: 98,154,219 (GRCm39)	Q310L	unknown	Het
Haus6	C	T	4: 86,500,229 (GRCm39)	E927K	possibly damaging	Het
Hunk	A	G	16: 90,229,505 (GRCm39)	N122S	probably damaging	Het
Itih4	T	A	14: 30,612,670 (GRCm39)	V232E	probably damaging	Het
Jag1	G	T	2: 136,931,812 (GRCm39)	D586E	probably benign	Het
Klk1b1	T	C	7: 43,619,905 (GRCm39)	S155P	probably damaging	Het
Lama1	G	T	17: 68,084,029 (GRCm39)	G1424*	probably null	Het
Lrp1	T	A	10: 127,376,571 (GRCm39)	N4279I	probably damaging	Het
Lrrc43	G	A	5: 123,641,640 (GRCm39)	V525I	possibly damaging	Het
Lrrc4c	G	A	2: 97,460,816 (GRCm39)	V481M	probably benign	Het
Mecr	T	A	4: 131,581,126 (GRCm39)		probably null	Het
Megf10	T	A	18: 57,421,081 (GRCm39)	Y906*	probably null	Het
Mpdz	A	G	4: 81,228,409 (GRCm39)	F1319L	probably damaging	Het
Mtf2	A	G	5: 108,248,780 (GRCm39)	E364G	possibly damaging	Het
Nelfe	T	A	17: 35,072,859 (GRCm39)	D160E	probably benign	Het
Nin	A	G	12: 70,092,128 (GRCm39)	L727P	probably damaging	Het
Npat	A	G	9: 53,463,681 (GRCm39)	T155A	probably benign	Het
Nup58	T	C	14: 60,476,945 (GRCm39)	D242G	probably benign	Het
Or4a78	A	T	2: 89,497,891 (GRCm39)	L113Q	probably damaging	Het
Pnlip	T	C	19: 58,662,202 (GRCm39)	V116A	probably benign	Het
Prl7a2	T	A	13: 27,849,051 (GRCm39)	L79F	probably benign	Het
Rbm25	A	T	12: 83,722,856 (GRCm39)	I760L	probably benign	Het
Rbms3	A	T	9: 116,788,534 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rps10	C	A	17: 27,849,473 (GRCm39)		probably benign	Het
Slc35e4	T	C	11: 3,863,159 (GRCm39)	E10G	possibly damaging	Het
Smad2	A	T	18: 76,437,697 (GRCm39)	T434S	probably damaging	Het
Sox30	C	T	11: 45,875,679 (GRCm39)	S477F	probably damaging	Het
Speer4a3	G	T	5: 26,158,175 (GRCm39)	T59K	probably benign	Het
Stat4	A	T	1: 52,053,014 (GRCm39)	D65V	probably damaging	Het
Strip2	A	G	6: 29,931,147 (GRCm39)	D366G	probably damaging	Het
Syngap1	C	A	17: 27,172,043 (GRCm39)	R84S	probably damaging	Het
Synpo2l	A	G	14: 20,710,734 (GRCm39)	Y629H	probably damaging	Het
Taf4	A	T	2: 179,577,683 (GRCm39)		probably null	Het
Ttc21a	A	G	9: 119,769,527 (GRCm39)	H68R	probably benign	Het
Txndc8	T	A	4: 57,984,199 (GRCm39)	Q144L	probably benign	Het
Tyr	T	G	7: 87,142,086 (GRCm39)	Q158P	probably damaging	Het
Uchl3	T	A	14: 101,904,106 (GRCm39)		probably null	Het
Vwa5b1	T	C	4: 138,332,123 (GRCm39)	K298R	probably benign	Het
Wrn	T	C	8: 33,747,043 (GRCm39)	N891S	probably benign	Het
Ylpm1	A	G	12: 85,116,492 (GRCm39)	S2125G	probably benign	Het

Other mutations in Anxa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Anxa1	APN	19	20,355,033 (GRCm39)	missense	probably benign	0.01
IGL03234:Anxa1	APN	19	20,354,965 (GRCm39)	splice site	probably benign
R0058:Anxa1	UTSW	19	20,361,141 (GRCm39)	missense	probably damaging	1.00
R0058:Anxa1	UTSW	19	20,361,141 (GRCm39)	missense	probably damaging	1.00
R1446:Anxa1	UTSW	19	20,351,103 (GRCm39)	missense	probably damaging	1.00
R1864:Anxa1	UTSW	19	20,357,053 (GRCm39)	missense	probably benign	0.00
R4787:Anxa1	UTSW	19	20,351,118 (GRCm39)	missense	probably damaging	0.98
R5013:Anxa1	UTSW	19	20,360,287 (GRCm39)	missense	probably benign	0.02
R5453:Anxa1	UTSW	19	20,357,703 (GRCm39)	critical splice donor site	probably null
R5468:Anxa1	UTSW	19	20,355,847 (GRCm39)	missense	probably damaging	1.00
R5918:Anxa1	UTSW	19	20,355,857 (GRCm39)	splice site	probably benign
R6059:Anxa1	UTSW	19	20,355,064 (GRCm39)	missense	possibly damaging	0.91
R6379:Anxa1	UTSW	19	20,351,079 (GRCm39)	makesense	probably null
R6394:Anxa1	UTSW	19	20,361,213 (GRCm39)	missense	probably damaging	1.00
R7049:Anxa1	UTSW	19	20,352,635 (GRCm39)	missense	probably benign
R8280:Anxa1	UTSW	19	20,352,650 (GRCm39)	missense	possibly damaging	0.79
R8950:Anxa1	UTSW	19	20,352,662 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCTCAGTTACAGAAATACACAG -3'
(R):5'- TGACCAAATTGAGATGTCACTAGG -3'

Sequencing Primer
(F):5'- GAGGATCAAATGGCCTCTTCTGAC -3'
(R):5'- CCCTTGGATGAAGTCTTGA -3'

Posted On

2014-10-15