Mutagenetix > Incidental Mutation

Incidental Mutation 'R5435:Anxa9'

428247

Institutional Source

Beutler Lab

Gene Symbol

Anxa9

Ensembl Gene

ENSMUSG00000015702

Gene Name

annexin A9

Synonyms

2310069F17Rik

MMRRC Submission

043000-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95203407-95214487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95204561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 321 (Y321C)

Ref Sequence

ENSEMBL: ENSMUSP00000127424 (fasta)

Gene Model

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

AlphaFold

Q9JHQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000015846
AA Change: Y321C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015846
Gene: ENSMUSG00000015702
AA Change: Y321C

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 damaging
Transcript: ENSMUST00000107183
AA Change: Y321C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102801
Gene: ENSMUSG00000015702
AA Change: Y321C

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 damaging
Transcript: ENSMUST00000164406
AA Change: Y321C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127424
Gene: ENSMUSG00000015702
AA Change: Y321C

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

0.6186

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,413 (GRCm39)	F851L	probably benign	Het
Abca17	C	T	17: 24,486,588 (GRCm39)	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,523,153 (GRCm39)	Y491*	probably null	Het
Acsf3	T	A	8: 123,507,020 (GRCm39)	N104K	probably damaging	Het
Adam23	T	C	1: 63,585,612 (GRCm39)	Y400H	possibly damaging	Het
Adgra3	G	A	5: 50,147,468 (GRCm39)	T524M	probably damaging	Het
Aff1	G	A	5: 103,902,198 (GRCm39)		probably benign	Het
Ap1g1	T	A	8: 110,565,552 (GRCm39)	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,741,783 (GRCm39)	I33N	possibly damaging	Het
B3galnt2	A	G	13: 14,171,575 (GRCm39)	E491G	probably benign	Het
Bdh1	C	T	16: 31,275,475 (GRCm39)	R235C	probably damaging	Het
Ccar2	A	G	14: 70,376,776 (GRCm39)	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519 (GRCm39)	D30V	probably damaging	Het
Ccdc116	G	T	16: 16,960,626 (GRCm39)	H64N	probably benign	Het
Ccl12	T	C	11: 81,994,001 (GRCm39)	I86T	possibly damaging	Het
Col2a1	T	C	15: 97,898,391 (GRCm39)		probably benign	Het
Col4a4	T	A	1: 82,431,728 (GRCm39)	I1519F	unknown	Het
Ddx19b	T	C	8: 111,735,458 (GRCm39)	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,037,121 (GRCm39)	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,463,807 (GRCm39)	I119F	probably damaging	Het
Ensa	C	A	3: 95,529,769 (GRCm39)		probably benign	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxf1	G	A	8: 121,811,231 (GRCm39)	G32S	probably damaging	Het
Gls2	G	A	10: 128,030,995 (GRCm39)		probably benign	Het
Gm13599	T	A	2: 67,226,496 (GRCm39)		noncoding transcript	Het
Gmnn	A	G	13: 24,936,084 (GRCm39)	S197P	probably benign	Het
Guf1	A	T	5: 69,720,512 (GRCm39)	H324L	probably benign	Het
H2-Q6	A	G	17: 35,644,661 (GRCm39)	D150G	probably damaging	Het
Herc3	T	A	6: 58,832,791 (GRCm39)	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,797,682 (GRCm39)	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,561,283 (GRCm39)	F46L	probably benign	Het
Kank1	T	G	19: 25,388,507 (GRCm39)	S727A	probably benign	Het
Kcnma1	A	T	14: 23,578,472 (GRCm39)	Y201*	probably null	Het
Lyst	A	T	13: 13,951,649 (GRCm39)	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,615,447 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,201,724 (GRCm39)		probably benign	Het
Myh9	C	T	15: 77,653,809 (GRCm39)	V1280I	probably benign	Het
Neto1	A	T	18: 86,416,388 (GRCm39)	T32S	probably benign	Het
Nol7	C	A	13: 43,554,848 (GRCm39)	H187Q	possibly damaging	Het
Or5ak22	T	A	2: 85,230,814 (GRCm39)	N21I	probably benign	Het
Pcdha8	A	G	18: 37,126,652 (GRCm39)	D378G	probably damaging	Het
Peak1	A	G	9: 56,113,770 (GRCm39)	S694P	probably damaging	Het
Pih1d1	T	A	7: 44,805,696 (GRCm39)		probably null	Het
Pik3c2g	T	G	6: 139,661,581 (GRCm39)		probably null	Het
Prkar2a	A	G	9: 108,617,682 (GRCm39)	R247G	probably damaging	Het
Psg26	A	G	7: 18,212,398 (GRCm39)	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,681,811 (GRCm39)	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,422,013 (GRCm39)	H304Q	probably damaging	Het
Relch	T	A	1: 105,668,975 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,103,878 (GRCm39)	E1783V	probably damaging	Het
Stag1	A	G	9: 100,835,603 (GRCm39)	N151S	probably benign	Het
Tbc1d32	C	A	10: 55,916,246 (GRCm39)	A1191S	probably damaging	Het
Tchh	C	A	3: 93,350,979 (GRCm39)	R140S	possibly damaging	Het
Trank1	A	G	9: 111,220,958 (GRCm39)	Y2565C	probably benign	Het
Ttn	A	T	2: 76,744,702 (GRCm39)	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,575,985 (GRCm39)	P893S	possibly damaging	Het
Wdfy4	A	G	14: 32,742,268 (GRCm39)	F2325S	probably damaging	Het
Wdr35	A	G	12: 9,039,951 (GRCm39)	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Ypel3	A	G	7: 126,374,960 (GRCm39)		probably benign	Het
Zan	T	A	5: 137,402,024 (GRCm39)	T4023S	unknown	Het
Zfp735	T	A	11: 73,602,939 (GRCm39)	C628S	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
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
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'- AGTCCCACACTCAATGGAAGG -3'
(R):5'- AGTGAGAATACCCCTCGCTG -3'

Sequencing Primer
(F):5'- AGCTAAGTTTAGTCAGGCAGTG -3'
(R):5'- TCGCTGCCTGCCACATG -3'

Posted On

2016-09-01