Mutagenetix > Incidental Mutation

Incidental Mutation 'R9542:Anxa9'

719923

Institutional Source

Beutler Lab

Gene Symbol

Anxa9

Ensembl Gene

ENSMUSG00000015702

Gene Name

annexin A9

Synonyms

2310069F17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9542 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95203407-95214487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95210379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 62 (D62G)

Ref Sequence

ENSEMBL: ENSMUSP00000015846 (fasta)

Gene Model

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

AlphaFold

Q9JHQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000015846
AA Change: D62G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015846
Gene: ENSMUSG00000015702
AA Change: D62G

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: D62G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102801
Gene: ENSMUSG00000015702
AA Change: D62G

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: D62G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127424
Gene: ENSMUSG00000015702
AA Change: D62G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	T	C	1: 155,443,356 (GRCm39)	S105P	probably benign	Het
Acot12	G	A	13: 91,931,110 (GRCm39)	V453M	probably damaging	Het
Actr2	C	T	11: 20,044,350 (GRCm39)	M85I	probably benign	Het
Arnt	C	T	3: 95,397,954 (GRCm39)	A599V	probably benign	Het
Ash1l	A	G	3: 88,950,566 (GRCm39)	E2153G	probably damaging	Het
Asic5	A	T	3: 81,911,850 (GRCm39)	T149S	probably benign	Het
Atcay	G	A	10: 81,043,686 (GRCm39)	T353I	unknown	Het
Aven	T	C	2: 112,455,517 (GRCm39)	F143L	probably damaging	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
BC024139	T	A	15: 76,009,715 (GRCm39)	L149F	probably damaging	Het
C3	T	C	17: 57,532,037 (GRCm39)	Y228C	probably damaging	Het
Cacna1d	A	G	14: 29,845,316 (GRCm39)	F640L	probably benign	Het
Ccdc187	T	C	2: 26,145,930 (GRCm39)	R1220G	possibly damaging	Het
Cdc42bpb	G	A	12: 111,268,508 (GRCm39)	Q1231*	probably null	Het
Cdh20	T	A	1: 104,875,067 (GRCm39)	V283E	probably damaging	Het
Cep63	T	C	9: 102,484,533 (GRCm39)	I241V	probably benign	Het
Dis3	A	G	14: 99,316,975 (GRCm39)	V787A	probably damaging	Het
Dock9	A	G	14: 121,864,775 (GRCm39)	F727S	probably damaging	Het
Eif5b	G	T	1: 38,057,131 (GRCm39)	E63*	probably null	Het
Fanca	A	G	8: 124,023,078 (GRCm39)	V553A	probably damaging	Het
Flacc1	C	T	1: 58,717,504 (GRCm39)	A136T	probably benign	Het
Gm37240	A	C	3: 84,417,196 (GRCm39)	H174Q	probably benign	Het
Kcnc4	C	T	3: 107,365,571 (GRCm39)	W212*	probably null	Het
Myh2	G	A	11: 67,072,002 (GRCm39)	E577K	possibly damaging	Het
Ncoa1	C	T	12: 4,325,178 (GRCm39)	V967I	possibly damaging	Het
Nmur2	T	C	11: 55,931,649 (GRCm39)	T21A	probably damaging	Het
Nrde2	A	G	12: 100,110,426 (GRCm39)	C197R	probably damaging	Het
Or2m12	A	T	16: 19,104,943 (GRCm39)	D183E	probably benign	Het
Or2o1	C	A	11: 49,051,073 (GRCm39)	C77*	probably null	Het
Or52ad1	T	C	7: 102,995,569 (GRCm39)	I189V	probably benign	Het
Or8h7	G	T	2: 86,720,813 (GRCm39)	H235Q	probably benign	Het
Pard3b	C	T	1: 62,250,786 (GRCm39)	R572*	probably null	Het
Pdcd6ip	T	C	9: 113,520,589 (GRCm39)	S132G	probably damaging	Het
Pdzrn3	A	T	6: 101,149,235 (GRCm39)	F364L	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pgr	G	T	9: 8,901,532 (GRCm39)	C355F	possibly damaging	Het
Pkhd1	T	G	1: 20,188,004 (GRCm39)	S3435R	probably damaging	Het
Pkhd1l1	A	G	15: 44,410,284 (GRCm39)	D2597G	probably benign	Het
Pramel30	T	C	4: 144,057,095 (GRCm39)	Y93H	possibly damaging	Het
Prrc2c	T	C	1: 162,508,359 (GRCm39)	E2410G	possibly damaging	Het
Rpap2	C	G	5: 107,768,180 (GRCm39)	S339R	probably benign	Het
Rrp36	G	C	17: 46,983,492 (GRCm39)	R69G	possibly damaging	Het
Rrp8	T	C	7: 105,382,606 (GRCm39)	T449A	probably benign	Het
Scn3a	T	C	2: 65,366,860 (GRCm39)	D54G	probably damaging	Het
Serinc2	C	T	4: 130,152,516 (GRCm39)	W228*	probably null	Het
Serpinb9g	A	G	13: 33,679,141 (GRCm39)	K337R	probably benign	Het
Slc28a2b	A	T	2: 122,324,822 (GRCm39)	K131N	probably benign	Het
Spata31	A	T	13: 65,070,077 (GRCm39)	I742F	probably damaging	Het
Speg	C	T	1: 75,399,426 (GRCm39)	P2291L	probably benign	Het
Ss18l2	T	A	9: 121,541,666 (GRCm39)	L61*	probably null	Het
Suco	C	T	1: 161,661,668 (GRCm39)	R921H	probably damaging	Het
Taok2	A	T	7: 126,466,008 (GRCm39)	I910N	probably damaging	Het
Tmem18	G	A	12: 30,638,557 (GRCm39)	M106I		Het
Tob1	T	G	11: 94,105,234 (GRCm39)	S257A	unknown	Het
Trim67	G	C	8: 125,521,497 (GRCm39)	K286N	possibly damaging	Het
Trmt112	A	G	19: 6,887,956 (GRCm39)	N62S	probably benign	Het
Tsc2	C	T	17: 24,819,308 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ube2j1	G	T	4: 33,040,793 (GRCm39)	E100*	probably null	Het
Urgcp	A	T	11: 5,667,517 (GRCm39)	F317I	possibly damaging	Het
Vps9d1	A	T	8: 123,970,522 (GRCm39)	D588E	probably damaging	Het
Wdr38	A	T	2: 38,890,210 (GRCm39)	T115S	probably damaging	Het
Zfp119a	G	A	17: 56,172,593 (GRCm39)	Q417*	probably null	Het
Zfp687	C	T	3: 94,916,442 (GRCm39)	C860Y	probably damaging	Het
Zmym4	T	C	4: 126,799,164 (GRCm39)	N724S	probably benign	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
R0128:Anxa9	UTSW	3	95,209,733 (GRCm39)	missense	probably benign	0.02
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

Predicted Primers

PCR Primer
(F):5'- ACCCCAGACAGATAGAGATATAGGTC -3'
(R):5'- ACGGAGTTTCTGACATTTTCTTATC -3'

Sequencing Primer
(F):5'- TAATCCCAGGTTTGACTCCCAAG -3'
(R):5'- GAGGAGCTGGGAATTCAT -3'

Posted On

2022-07-18