Mutagenetix > Incidental Mutation

Incidental Mutation 'R1656:Anxa9'

189081

Institutional Source

Beutler Lab

Gene Symbol

Anxa9

Ensembl Gene

ENSMUSG00000015702

Gene Name

annexin A9

Synonyms

2310069F17Rik

MMRRC Submission

039692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1656 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95203407-95214487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 95207884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 219 (V219I)

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: V219I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000015846
Gene: ENSMUSG00000015702
AA Change: V219I

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: V219I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102801
Gene: ENSMUSG00000015702
AA Change: V219I

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: V219I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000127424
Gene: ENSMUSG00000015702
AA Change: V219I

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

Meta Mutation Damage Score

0.0793

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (79/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	T	14: 32,099,901 (GRCm39)	I42N	possibly damaging	Het
Adarb2	T	A	13: 8,253,287 (GRCm39)	S11T	unknown	Het
Adgrg1	C	T	8: 95,738,438 (GRCm39)	Q644*	probably null	Het
Akr1c18	T	G	13: 4,195,252 (GRCm39)	I69L	probably benign	Het
Aqp9	T	C	9: 71,045,385 (GRCm39)	T101A	probably benign	Het
Arhgef1	C	T	7: 24,613,057 (GRCm39)	R251W	probably damaging	Het
Arl13b	T	A	16: 62,627,007 (GRCm39)	E231D	possibly damaging	Het
Atosa	C	T	9: 74,916,241 (GRCm39)	A280V	probably benign	Het
Bcl2l11	C	T	2: 128,000,176 (GRCm39)	A173V	probably benign	Het
Ccni	A	T	5: 93,335,933 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,474,485 (GRCm39)	E785G	probably benign	Het
Cdk4	A	G	10: 126,900,849 (GRCm39)	Y167C	probably benign	Het
Clip1	A	C	5: 123,768,466 (GRCm39)	V757G	possibly damaging	Het
Ctsc	T	C	7: 87,930,616 (GRCm39)	V65A	possibly damaging	Het
Cuedc2	G	A	19: 46,320,427 (GRCm39)	S48L	probably damaging	Het
Cyp39a1	T	A	17: 43,978,510 (GRCm39)	M4K	possibly damaging	Het
Dgcr8	T	C	16: 18,074,577 (GRCm39)	S733G	probably benign	Het
Dnhd1	T	C	7: 105,363,488 (GRCm39)	S4017P	probably damaging	Het
Ehbp1	A	G	11: 22,096,694 (GRCm39)	I255T	probably benign	Het
Fam83e	T	C	7: 45,371,687 (GRCm39)	V28A	probably benign	Het
Fanci	A	G	7: 79,054,936 (GRCm39)		probably benign	Het
Fat1	C	T	8: 45,478,567 (GRCm39)	Q2538*	probably null	Het
Fshr	A	G	17: 89,508,009 (GRCm39)	F11S	unknown	Het
Gab1	G	T	8: 81,515,388 (GRCm39)	P310Q	probably damaging	Het
Galnt18	A	G	7: 111,215,699 (GRCm39)		probably benign	Het
Gm28042	C	A	2: 119,869,370 (GRCm39)	P355Q	probably damaging	Het
H2-DMa	A	G	17: 34,357,116 (GRCm39)	T205A	possibly damaging	Het
Hnf4g	A	T	3: 3,718,011 (GRCm39)	D420V	probably benign	Het
Ift70b	T	C	2: 75,767,760 (GRCm39)	K331R	probably benign	Het
Il1b	A	G	2: 129,207,989 (GRCm39)	V164A	probably damaging	Het
Irf4	C	A	13: 30,941,485 (GRCm39)	H279Q	probably benign	Het
Loxhd1	A	G	18: 77,409,364 (GRCm39)	T203A	possibly damaging	Het
Lsamp	C	T	16: 41,775,682 (GRCm39)	P178S	probably damaging	Het
Mcm6	T	C	1: 128,277,155 (GRCm39)	S223G	possibly damaging	Het
Misp	G	T	10: 79,661,777 (GRCm39)	V65L	possibly damaging	Het
Mov10	A	G	3: 104,706,912 (GRCm39)	V666A	probably benign	Het
Mycbp2	A	T	14: 103,485,194 (GRCm39)	D1102E	probably damaging	Het
Myef2	G	T	2: 124,939,860 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,303,216 (GRCm39)	I1079N	probably damaging	Het
Nisch	G	T	14: 30,899,228 (GRCm39)		probably benign	Het
Obox7	T	C	7: 14,399,346 (GRCm39)	S191P	probably benign	Het
Or11h7	T	C	14: 50,891,465 (GRCm39)	V257A	probably benign	Het
Or13p10	A	G	4: 118,523,385 (GRCm39)	I224V	probably damaging	Het
Or14c40	C	T	7: 86,313,331 (GRCm39)	L154F	probably benign	Het
Or1j11	G	A	2: 36,311,658 (GRCm39)	V83M	probably benign	Het
Or5w14	A	T	2: 87,541,422 (GRCm39)	V276D	possibly damaging	Het
Or7d9	A	G	9: 20,197,873 (GRCm39)	R301G	probably damaging	Het
Phf1	T	C	17: 27,156,333 (GRCm39)	S492P	possibly damaging	Het
Phyh	A	T	2: 4,943,164 (GRCm39)	N337I	probably damaging	Het
Poteg	A	T	8: 27,985,060 (GRCm39)		probably benign	Het
Prag1	G	T	8: 36,571,500 (GRCm39)	K694N	probably damaging	Het
Proser2	C	T	2: 6,107,870 (GRCm39)	E49K	probably damaging	Het
Pskh1	T	C	8: 106,656,389 (GRCm39)	V355A	possibly damaging	Het
Psmc2	T	C	5: 22,004,549 (GRCm39)	V182A	possibly damaging	Het
Rbfox1	A	G	16: 7,124,333 (GRCm39)		probably benign	Het
Slc26a7	A	T	4: 14,621,221 (GRCm39)	I55K	possibly damaging	Het
Slc5a8	G	A	10: 88,761,648 (GRCm39)		probably null	Het
Slitrk3	T	C	3: 72,957,672 (GRCm39)	R367G	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata31	A	G	13: 65,068,953 (GRCm39)	E367G	probably benign	Het
Srrm3	A	T	5: 135,863,892 (GRCm39)		probably null	Het
Ssmem1	T	C	6: 30,517,507 (GRCm39)	S6P	probably damaging	Het
Swap70	A	G	7: 109,821,034 (GRCm39)	D6G	probably benign	Het
Syt1	T	C	10: 108,419,776 (GRCm39)	E295G	probably damaging	Het
Tap2	A	T	17: 34,424,927 (GRCm39)	I192F	possibly damaging	Het
Tgoln1	C	T	6: 72,591,068 (GRCm39)	R348H	probably damaging	Het
Tln2	C	T	9: 67,134,389 (GRCm39)	V1373I	possibly damaging	Het
Tmc2	A	G	2: 130,089,854 (GRCm39)	D613G	possibly damaging	Het
Tmem62	T	A	2: 120,837,483 (GRCm39)	Y597N	probably benign	Het
Trhr2	T	A	8: 123,084,185 (GRCm39)	T272S	probably damaging	Het
Vmn2r92	T	C	17: 18,372,198 (GRCm39)	S3P	probably benign	Het
Wdfy3	A	T	5: 102,089,313 (GRCm39)	I627N	probably damaging	Het
Zfhx4	T	C	3: 5,478,076 (GRCm39)	S3564P	probably damaging	Het
Zfp467	T	G	6: 48,416,013 (GRCm39)	E213A	possibly damaging	Het
Zfp746	T	G	6: 48,041,411 (GRCm39)	K437N	probably damaging	Het
Zfp853	A	G	5: 143,274,840 (GRCm39)		probably benign	Het
Zranb1	T	A	7: 132,551,496 (GRCm39)	V49D	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
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'- GTCTCGGTAAAACCCCATACATCCTG -3'
(R):5'- CCCCATGTACCTATCTGTACTGCAAAC -3'

Sequencing Primer
(F):5'- ATACATCCTGAGCAGGTGC -3'
(R):5'- tccatctgcctctaccacc -3'

Posted On

2014-05-09