Mutagenetix > Incidental Mutation

Incidental Mutation 'R1967:Anxa9'

219027

Institutional Source

Beutler Lab

Gene Symbol

Anxa9

Ensembl Gene

ENSMUSG00000015702

Gene Name

annexin A9

Synonyms

2310069F17Rik

MMRRC Submission

039980-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95203407-95214487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95207919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 207 (Q207R)

Ref Sequence

ENSEMBL: ENSMUSP00000127424 (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: Q207R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000015846
Gene: ENSMUSG00000015702
AA Change: Q207R

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: 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: Q207R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102801
Gene: ENSMUSG00000015702
AA Change: Q207R

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: 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: Q207R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000127424
Gene: ENSMUSG00000015702
AA Change: Q207R

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: 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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	C	15: 37,439,842 (GRCm39)		probably benign	Het
Abca6	T	C	11: 110,077,974 (GRCm39)	I1278V	probably benign	Het
Adamts15	C	T	9: 30,832,605 (GRCm39)	W310*	probably null	Het
Adamts6	T	A	13: 104,563,459 (GRCm39)	C650*	probably null	Het
Akap3	G	T	6: 126,842,061 (GRCm39)	G227C	probably benign	Het
Alox12e	A	T	11: 70,208,682 (GRCm39)	S457T	probably benign	Het
Angpt1	C	A	15: 42,301,703 (GRCm39)	C435F	probably damaging	Het
Aplnr	A	T	2: 84,967,950 (GRCm39)	D325V	probably benign	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atp13a4	A	G	16: 29,298,672 (GRCm39)	S96P	probably damaging	Het
Bnc1	A	T	7: 81,623,384 (GRCm39)	H614Q	probably benign	Het
C6	A	G	15: 4,789,302 (GRCm39)	D249G	probably damaging	Het
Camta1	A	T	4: 151,173,430 (GRCm39)	F977I	probably damaging	Het
Chil6	T	C	3: 106,298,470 (GRCm39)	S188G	possibly damaging	Het
Cntrob	A	T	11: 69,211,789 (GRCm39)	L145Q	probably damaging	Het
Coro7	T	C	16: 4,452,753 (GRCm39)	E306G	probably damaging	Het
Cplane1	T	G	15: 8,232,904 (GRCm39)	V1141G	probably benign	Het
Cpq	T	C	15: 33,497,348 (GRCm39)	S363P	possibly damaging	Het
Ctc1	A	G	11: 68,918,688 (GRCm39)		probably null	Het
Defb43	T	A	14: 63,255,246 (GRCm39)	N26K	probably benign	Het
Dennd1a	T	C	2: 37,734,845 (GRCm39)	T41A	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Eml6	A	G	11: 29,974,545 (GRCm39)	L11P	probably damaging	Het
Epha5	A	G	5: 84,564,288 (GRCm39)	V26A	probably benign	Het
Fam13c	A	G	10: 70,387,565 (GRCm39)	D443G	probably damaging	Het
Fam227a	G	A	15: 79,521,335 (GRCm39)	L243F	possibly damaging	Het
Fat3	T	G	9: 15,879,591 (GRCm39)	R3301S	probably benign	Het
Fbxw20	T	C	9: 109,046,578 (GRCm39)	T461A	probably benign	Het
Fgf8	T	A	19: 45,730,007 (GRCm39)	S61C	probably damaging	Het
Fgfrl1	A	G	5: 108,852,871 (GRCm39)	E100G	probably damaging	Het
Gabra4	G	A	5: 71,729,412 (GRCm39)	S456F	possibly damaging	Het
Gas6	T	C	8: 13,520,317 (GRCm39)	E457G	probably damaging	Het
Gpr33	G	A	12: 52,070,991 (GRCm39)	S16L	probably benign	Het
Greb1l	A	C	18: 10,501,049 (GRCm39)	N393T	possibly damaging	Het
Gtpbp4	T	C	13: 9,027,340 (GRCm39)	K492E	probably benign	Het
Hsf2bp	A	T	17: 32,206,378 (GRCm39)	L251*	probably null	Het
Hyal5	A	T	6: 24,876,193 (GRCm39)	Q22L	possibly damaging	Het
Itih1	A	T	14: 30,663,941 (GRCm39)	V114E	possibly damaging	Het
Jak3	T	A	8: 72,134,179 (GRCm39)	I427N	probably damaging	Het
Jcad	T	C	18: 4,675,162 (GRCm39)	S975P	probably benign	Het
Kcng4	A	G	8: 120,359,662 (GRCm39)	V238A	probably damaging	Het
Klb	A	G	5: 65,529,417 (GRCm39)	D315G	probably damaging	Het
Klrh1	A	T	6: 129,752,798 (GRCm39)	N2K	possibly damaging	Het
Krt5	T	C	15: 101,620,094 (GRCm39)	N208D	probably benign	Het
Lmo7	T	A	14: 102,137,651 (GRCm39)	H551Q	probably benign	Het
Lrp8	G	T	4: 107,717,168 (GRCm39)	G732V	probably damaging	Het
Lrrc38	A	G	4: 143,096,553 (GRCm39)	D288G	unknown	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mas1	A	G	17: 13,060,923 (GRCm39)	Y167H	probably benign	Het
Mcm8	A	C	2: 132,684,662 (GRCm39)	I759L	probably benign	Het
Med13l	G	A	5: 118,899,387 (GRCm39)	D2148N	probably damaging	Het
Muc20	A	T	16: 32,614,612 (GRCm39)	I255K	probably benign	Het
Myh1	A	G	11: 67,104,273 (GRCm39)	N980S	probably benign	Het
Nap1l4	T	A	7: 143,088,024 (GRCm39)	Q178L	probably damaging	Het
Ncapg	T	A	5: 45,857,252 (GRCm39)	L988Q	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Neurl4	A	G	11: 69,794,036 (GRCm39)	E164G	possibly damaging	Het
Nf1	G	A	11: 79,303,571 (GRCm39)	R416H	probably damaging	Het
Obscn	G	A	11: 59,026,535 (GRCm39)	Q223*	probably null	Het
Or10q1	T	A	19: 13,727,417 (GRCm39)	*316R	probably null	Het
Or2o1	T	C	11: 49,051,675 (GRCm39)	I278T	probably benign	Het
Pcdhb16	T	A	18: 37,612,715 (GRCm39)	N558K	probably damaging	Het
Pcnx2	A	T	8: 126,542,422 (GRCm39)	M1253K	possibly damaging	Het
Pla2g4a	A	G	1: 149,797,832 (GRCm39)	V22A	probably damaging	Het
Plppr5	G	A	3: 117,419,555 (GRCm39)		probably null	Het
Pnpla2	T	C	7: 141,039,345 (GRCm39)	S353P	probably benign	Het
Pom121	A	T	5: 135,420,608 (GRCm39)	L271Q	unknown	Het
Prepl	A	T	17: 85,395,979 (GRCm39)	M1K	probably null	Het
Prr14l	A	G	5: 33,001,813 (GRCm39)		probably benign	Het
Psmc3	C	A	2: 90,888,189 (GRCm39)	P325T	probably benign	Het
Psme2b	A	G	11: 48,836,896 (GRCm39)	V17A	probably damaging	Het
Ptpro	A	G	6: 137,393,863 (GRCm39)	I23V	probably benign	Het
Rab31	A	G	17: 66,079,499 (GRCm39)		probably null	Het
Ranbp6	T	A	19: 29,789,900 (GRCm39)	K151*	probably null	Het
Rbm12b1	A	T	4: 12,146,304 (GRCm39)	I759L	probably benign	Het
Rgs5	T	C	1: 169,504,425 (GRCm39)	I25T	probably benign	Het
Rnf213	T	C	11: 119,371,721 (GRCm39)	V4842A	probably damaging	Het
Rtl9	A	T	X: 141,886,037 (GRCm39)	I1150F	probably damaging	Het
Scn1a	A	T	2: 66,158,769 (GRCm39)	W384R	probably damaging	Het
Sema5a	C	T	15: 32,681,765 (GRCm39)	P948L	probably damaging	Het
Slc26a3	G	A	12: 31,515,777 (GRCm39)	R559Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,243 (GRCm39)	V267A	probably benign	Het
Spata22	A	G	11: 73,221,953 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,454 (GRCm39)	I909L	probably benign	Het
Sptbn2	G	T	19: 4,795,327 (GRCm39)	R1595L	probably benign	Het
Tfdp1	T	C	8: 13,423,039 (GRCm39)	S315P	possibly damaging	Het
Tle1	A	T	4: 72,038,463 (GRCm39)	V688E	probably damaging	Het
Tmem129	A	T	5: 33,812,665 (GRCm39)		probably null	Het
Tmprss11a	G	A	5: 86,579,702 (GRCm39)	T91I	probably benign	Het
Tnfsf14	A	G	17: 57,497,807 (GRCm39)	Y142H	probably damaging	Het
Tph1	T	C	7: 46,311,538 (GRCm39)	D68G	probably benign	Het
Ttn	A	T	2: 76,592,631 (GRCm39)	S12507T	probably damaging	Het
Tubgcp2	T	A	7: 139,586,066 (GRCm39)	M408L	probably benign	Het
Usp34	A	T	11: 23,314,503 (GRCm39)	H815L	probably benign	Het
Usp6nl	G	A	2: 6,446,330 (GRCm39)	R746H	probably benign	Het
Utp20	A	G	10: 88,652,841 (GRCm39)	S358P	probably benign	Het
Vmn2r118	G	A	17: 55,899,882 (GRCm39)	T674I	probably damaging	Het
Vmn2r8	A	T	5: 108,950,249 (GRCm39)	H199Q	probably benign	Het
Vmn2r9	A	G	5: 108,995,388 (GRCm39)	V420A	probably benign	Het
Vmn2r99	A	T	17: 19,599,077 (GRCm39)	T254S	probably benign	Het
Zbed5	A	G	5: 129,930,510 (GRCm39)	H132R	possibly damaging	Het
Zfp568	A	G	7: 29,688,513 (GRCm39)	E25G	probably damaging	Het
Zfp951	T	A	5: 104,964,866 (GRCm39)	I67L	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
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
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'- TGGTATGTGGGACTATTACTTACCAC -3'
(R):5'- TTGTGAGAGCAGCTGAGCAG -3'

Sequencing Primer
(F):5'- GGACTATTACTTACCACAGAGAATGG -3'
(R):5'- TGGAACTCACTCTGTAGACCAG -3'

Posted On

2014-08-25