Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Anxa9'

92458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Anxa9

Ensembl Gene

ENSMUSG00000015702

Gene Name

annexin A9

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

95296096-95307176 bp(-) (GRCm38)

Type of Mutation

splice site (4373 bp from exon)

DNA Base Change (assembly)

A to G at 95300536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015846] [ENSMUST00000039537] [ENSMUST00000107183] [ENSMUST00000107187] [ENSMUST00000164406] [ENSMUST00000168223]

AlphaFold

Q9JHQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000015846
AA Change: I231T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000015846
Gene: ENSMUSG00000015702
AA Change: I231T

Domain	Start	End	E-Value	Type
ANX	58	110	1.48e-17	SMART
ANX	130	182	6.56e-10	SMART
ANX	212	264	1.52e-1	SMART
ANX	287	339	1.03e-11	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000039537

SMART Domains

Protein: ENSMUSP00000043910
Gene: ENSMUSG00000038712

Domain	Start	End	E-Value	Type
low complexity region	35	54	N/A	INTRINSIC
low complexity region	67	86	N/A	INTRINSIC
Pfam:DUF544	143	268	7.7e-51	PFAM
low complexity region	369	382	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
low complexity region	405	423	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107183
AA Change: I231T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102801
Gene: ENSMUSG00000015702
AA Change: I231T

Domain	Start	End	E-Value	Type
ANX	58	110	1.48e-17	SMART
ANX	130	182	6.56e-10	SMART
ANX	212	264	1.52e-1	SMART
ANX	287	339	1.03e-11	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107187

SMART Domains

Protein: ENSMUSP00000102805
Gene: ENSMUSG00000038712

Domain	Start	End	E-Value	Type
low complexity region	35	54	N/A	INTRINSIC
low complexity region	67	86	N/A	INTRINSIC
Pfam:DUF544	143	266	7e-42	PFAM
low complexity region	369	382	N/A	INTRINSIC
low complexity region	400	406	N/A	INTRINSIC
low complexity region	414	432	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133762

Predicted Effect

probably benign
Transcript: ENSMUST00000164406
AA Change: I231T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127424
Gene: ENSMUSG00000015702
AA Change: I231T

Domain	Start	End	E-Value	Type
ANX	58	110	1.48e-17	SMART
ANX	130	182	6.56e-10	SMART
ANX	212	264	1.52e-1	SMART
ANX	287	339	1.03e-11	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000168223

SMART Domains

Protein: ENSMUSP00000127839
Gene: ENSMUSG00000038712

Domain	Start	End	E-Value	Type
low complexity region	35	54	N/A	INTRINSIC
low complexity region	67	86	N/A	INTRINSIC
Pfam:DUF544	143	268	7.7e-51	PFAM
low complexity region	369	382	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
low complexity region	405	423	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,272,833	A74V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1a3	G	A	7: 66,409,230	T239I	probably damaging	Het
Atp5k	C	A	5: 108,434,033	K28N	probably damaging	Het
C9	T	G	15: 6,459,668	Y169D	probably benign	Het
Cbwd1	T	C	19: 24,940,776	E210G	possibly damaging	Het
Chat	T	A	14: 32,446,892		probably null	Het
Csmd3	C	T	15: 48,011,083	E706K	probably benign	Het
Ctbs	A	G	3: 146,455,112	K145E	probably benign	Het
Dennd5a	A	G	7: 109,934,095	M156T	probably damaging	Het
Dhx29	A	G	13: 112,965,222	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,367,867	F517Y	probably benign	Het
Dst	G	A	1: 34,188,909	W1536*	probably null	Het
Galc	T	C	12: 98,252,081	T171A	possibly damaging	Het
Gsap	T	C	5: 21,226,248	I190T	probably damaging	Het
Hars2	A	T	18: 36,789,577	R388*	probably null	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Itgbl1	T	A	14: 123,827,799	S122T	possibly damaging	Het
Jhy	G	T	9: 40,960,964	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,817,808	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,912,107	I509N	probably damaging	Het
Lpar6	T	C	14: 73,239,066	S156P	probably damaging	Het
Man2c1	T	C	9: 57,141,556		probably benign	Het
March11	T	C	15: 26,409,199	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Muc4	A	T	16: 32,756,627	Q2167L	unknown	Het
Myom1	T	C	17: 71,099,993	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,791,258	R101*	probably null	Het
Nxpe4	T	C	9: 48,394,140	S277P	possibly damaging	Het
Olfr1152	A	C	2: 87,868,144	D51A	probably damaging	Het
Olfr1459	T	A	19: 13,146,250	K136N	probably benign	Het
Olfr395	T	C	11: 73,907,477	N5S	probably damaging	Het
Olfr437	T	A	6: 43,167,703	V215E	probably damaging	Het
Olfr584	G	A	7: 103,086,375	V281I	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Prepl	A	G	17: 85,066,281	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,149,553	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,801,307	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,673,865	M100K	probably benign	Het
Sema3c	A	G	5: 17,672,506	N204D	probably damaging	Het
Susd4	A	G	1: 182,858,461		probably null	Het
Taar7f	G	T	10: 24,050,341	A278S	possibly damaging	Het
Tle4	T	A	19: 14,544,814	M122L	probably benign	Het
Trim9	C	T	12: 70,248,351	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,002,479	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,065,259	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,827,813		probably benign	Het

Other mutations in Anxa9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Anxa9	APN	3	95302432	splice site	probably benign
IGL02272:Anxa9	APN	3	95305894	missense	probably benign	0.11
R0012:Anxa9	UTSW	3	95308095	unclassified	probably benign
R0128:Anxa9	UTSW	3	95302422	missense	probably benign	0.02
R0130:Anxa9	UTSW	3	95302422	missense	probably benign	0.02
R0356:Anxa9	UTSW	3	95308076	unclassified	probably benign
R1656:Anxa9	UTSW	3	95300573	missense	probably benign	0.02
R1967:Anxa9	UTSW	3	95300608	missense	probably benign	0.00
R2180:Anxa9	UTSW	3	95306424	critical splice acceptor site	probably null
R2359:Anxa9	UTSW	3	95302751	missense	probably damaging	1.00
R3155:Anxa9	UTSW	3	95302405	missense	probably benign	0.04
R3156:Anxa9	UTSW	3	95302405	missense	probably benign	0.04
R3767:Anxa9	UTSW	3	95301114	missense	probably benign	0.00
R4693:Anxa9	UTSW	3	95297356	missense	probably benign	0.00
R4974:Anxa9	UTSW	3	95308013	unclassified	probably benign
R5435:Anxa9	UTSW	3	95297250	missense	probably damaging	1.00
R6342:Anxa9	UTSW	3	95296790	makesense	probably null
R7272:Anxa9	UTSW	3	95305873	missense	probably damaging	1.00
R8210:Anxa9	UTSW	3	95305896	missense	probably damaging	1.00
R8673:Anxa9	UTSW	3	95300346	missense	probably benign	0.03
R8728:Anxa9	UTSW	3	95302668	missense	probably damaging	0.99
R9342:Anxa9	UTSW	3	95303048	missense	probably damaging	1.00
R9542:Anxa9	UTSW	3	95303068	missense	probably benign

Posted On

2013-12-09