Mutagenetix > Incidental Mutation

Incidental Mutation 'R0128:Anxa9'

60501

Institutional Source

Beutler Lab

Gene Symbol

Anxa9

Ensembl Gene

ENSMUSG00000015702

Gene Name

annexin A9

Synonyms

2310069F17Rik

MMRRC Submission

038413-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0128 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

95203407-95214487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95209733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 129 (S129P)

Ref Sequence

ENSEMBL: ENSMUSP00000127424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015846] [ENSMUST00000107183] [ENSMUST00000123365] [ENSMUST00000164406]

AlphaFold

Q9JHQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000015846
AA Change: S129P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000015846
Gene: ENSMUSG00000015702
AA Change: S129P

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 benign
Transcript: ENSMUST00000107183
AA Change: S129P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102801
Gene: ENSMUSG00000015702
AA Change: S129P

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 benign
Transcript: ENSMUST00000123365

Predicted Effect

probably benign
Transcript: ENSMUST00000164406
AA Change: S129P

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000127424
Gene: ENSMUSG00000015702
AA Change: S129P

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

noncoding transcript
Transcript: ENSMUST00000198947

Meta Mutation Damage Score

0.2535

Coding Region Coverage

1x: 99.0%
3x: 97.6%
10x: 93.0%
20x: 79.3%

Validation Efficiency

99% (84/85)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,552,602 (GRCm39)		probably benign	Het
Abcd4	T	G	12: 84,659,126 (GRCm39)	Q210P	possibly damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Acte1	G	T	7: 143,445,492 (GRCm39)	G178C	probably damaging	Het
Actl6b	A	G	5: 137,553,327 (GRCm39)	N113S	probably benign	Het
Actn3	A	T	19: 4,921,643 (GRCm39)	V179E	probably damaging	Het
Aff4	C	A	11: 53,306,293 (GRCm39)	T1145N	probably damaging	Het
Ankrd42	G	A	7: 92,241,067 (GRCm39)	Q431*	probably null	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Asap3	C	A	4: 135,961,915 (GRCm39)	N285K	probably damaging	Het
Atp6v0a2	A	G	5: 124,790,248 (GRCm39)	N477S	probably damaging	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
C87436	G	A	6: 86,446,809 (GRCm39)	G533D	probably damaging	Het
Ccdc138	T	A	10: 58,364,182 (GRCm39)	I314N	probably damaging	Het
Ccs	A	G	19: 4,875,654 (GRCm39)	F237S	probably damaging	Het
Ccz1	T	G	5: 143,946,112 (GRCm39)		probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,613,829 (GRCm39)	N531S	probably damaging	Het
Clptm1	A	T	7: 19,368,932 (GRCm39)	F476I	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dcdc2a	A	T	13: 25,371,655 (GRCm39)		probably benign	Het
Dlg1	G	T	16: 31,676,883 (GRCm39)		probably null	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Ergic3	C	A	2: 155,853,060 (GRCm39)	R43S	possibly damaging	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,387,978 (GRCm39)	T78M	probably benign	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Ghrl	A	T	6: 113,694,129 (GRCm39)		probably benign	Het
Gm4787	T	A	12: 81,424,521 (GRCm39)	K546*	probably null	Het
Gm6576	C	G	15: 27,026,086 (GRCm39)		noncoding transcript	Het
Got1	C	T	19: 43,512,816 (GRCm39)	D27N	probably benign	Het
Gucy2c	C	T	6: 136,681,247 (GRCm39)	V946I	probably damaging	Het
Hectd4	T	C	5: 121,487,306 (GRCm39)	Y3434H	possibly damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Itpr1	A	G	6: 108,448,170 (GRCm39)		probably benign	Het
Kctd1	G	A	18: 15,107,237 (GRCm39)	P743S	probably benign	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Krt24	T	C	11: 99,171,093 (GRCm39)	D495G	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Lipo3	C	T	19: 33,534,506 (GRCm39)		probably null	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k4	T	A	17: 12,466,950 (GRCm39)	D1104V	probably damaging	Het
Mpeg1	T	C	19: 12,438,587 (GRCm39)	V15A	probably benign	Het
Narf	C	T	11: 121,141,662 (GRCm39)	R356C	probably damaging	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Olfm5	G	A	7: 103,810,133 (GRCm39)	A76V	probably benign	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or52p1	A	T	7: 104,267,788 (GRCm39)	I301F	probably damaging	Het
Or5ak22	T	A	2: 85,230,305 (GRCm39)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Palb2	A	T	7: 121,727,389 (GRCm39)	Y160*	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,949,183 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pdcd11	G	A	19: 47,108,301 (GRCm39)	V1223I	probably benign	Het
Pde6c	T	C	19: 38,157,813 (GRCm39)		probably benign	Het
Prr12	A	G	7: 44,699,463 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sfr1	A	G	19: 47,723,457 (GRCm39)	*320W	probably null	Het
Sft2d1rt	A	G	11: 45,943,120 (GRCm39)	M1T	probably null	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Slc1a3	T	C	15: 8,665,693 (GRCm39)	M519V	probably benign	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Sp4	A	G	12: 118,264,551 (GRCm39)		probably benign	Het
Spag9	T	A	11: 93,984,365 (GRCm39)	I327N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Unc79	A	G	12: 103,054,693 (GRCm39)		probably benign	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	Het
Wrap73	A	G	4: 154,226,957 (GRCm39)	D19G	possibly damaging	Het

Other mutations in Anxa9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Anxa9	APN	3	95,209,743 (GRCm39)	splice site	probably benign
IGL01618:Anxa9	APN	3	95,207,847 (GRCm39)	splice site	probably null
IGL02272:Anxa9	APN	3	95,213,205 (GRCm39)	missense	probably benign	0.11
R0012:Anxa9	UTSW	3	95,215,406 (GRCm39)	unclassified	probably benign
R0130:Anxa9	UTSW	3	95,209,733 (GRCm39)	missense	probably benign	0.02
R0356:Anxa9	UTSW	3	95,215,387 (GRCm39)	unclassified	probably benign
R1656:Anxa9	UTSW	3	95,207,884 (GRCm39)	missense	probably benign	0.02
R1967:Anxa9	UTSW	3	95,207,919 (GRCm39)	missense	probably benign	0.00
R2180:Anxa9	UTSW	3	95,213,735 (GRCm39)	critical splice acceptor site	probably null
R2359:Anxa9	UTSW	3	95,210,062 (GRCm39)	missense	probably damaging	1.00
R3155:Anxa9	UTSW	3	95,209,716 (GRCm39)	missense	probably benign	0.04
R3156:Anxa9	UTSW	3	95,209,716 (GRCm39)	missense	probably benign	0.04
R3767:Anxa9	UTSW	3	95,208,425 (GRCm39)	missense	probably benign	0.00
R4693:Anxa9	UTSW	3	95,204,667 (GRCm39)	missense	probably benign	0.00
R4974:Anxa9	UTSW	3	95,215,324 (GRCm39)	unclassified	probably benign
R5435:Anxa9	UTSW	3	95,204,561 (GRCm39)	missense	probably damaging	1.00
R6342:Anxa9	UTSW	3	95,204,101 (GRCm39)	makesense	probably null
R7272:Anxa9	UTSW	3	95,213,184 (GRCm39)	missense	probably damaging	1.00
R8210:Anxa9	UTSW	3	95,213,207 (GRCm39)	missense	probably damaging	1.00
R8673:Anxa9	UTSW	3	95,207,657 (GRCm39)	missense	probably benign	0.03
R8728:Anxa9	UTSW	3	95,209,979 (GRCm39)	missense	probably damaging	0.99
R9342:Anxa9	UTSW	3	95,210,359 (GRCm39)	missense	probably damaging	1.00
R9542:Anxa9	UTSW	3	95,210,379 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGTAGGAGAGTAGTGGACTGTCCC -3'
(R):5'- AGCCCAATTTGATGCCCAGGAAC -3'

Sequencing Primer
(F):5'- AGTAGTGGACTGTCCCACTCAG -3'
(R):5'- TTTGATGCCCAGGAACTGAGG -3'

Posted On

2013-07-24