Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02675:Anxa8'

303071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Anxa8

Ensembl Gene

ENSMUSG00000021950

Gene Name

annexin A8

Synonyms

Anx8

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02675

Quality Score

Status

Chromosome

Chromosomal Location

33807938-33822528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33815371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 150 (D150G)

Ref Sequence

ENSEMBL: ENSMUSP00000113662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022519] [ENSMUST00000120077] [ENSMUST00000178958]

AlphaFold

O35640

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022519
AA Change: D150G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022519
Gene: ENSMUSG00000021950
AA Change: D150G

Domain	Start	End	E-Value	Type
ANX	38	90	6.69e-25	SMART
ANX	110	162	5.57e-22	SMART
ANX	195	247	1.12e-17	SMART
ANX	270	322	9.26e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120077
AA Change: D150G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113662
Gene: ENSMUSG00000021950
AA Change: D150G

Domain	Start	End	E-Value	Type
ANX	38	90	6.69e-25	SMART
ANX	110	162	5.57e-22	SMART
ANX	165	221	4.14e-1	SMART
ANX	244	296	9.26e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215823

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a floxed allele activated in all cells exhibit impaired leukocyte rolling flux and adhesion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano8	A	G	8: 71,936,184 (GRCm39)	I204T	probably damaging	Het
Arel1	T	C	12: 84,977,002 (GRCm39)	T438A	probably damaging	Het
Asphd1	T	C	7: 126,546,006 (GRCm39)		probably benign	Het
Bcl2l12	A	T	7: 44,640,824 (GRCm39)		probably benign	Het
Cand1	A	G	10: 119,055,602 (GRCm39)	I87T	probably damaging	Het
Ccdc80	A	C	16: 44,936,695 (GRCm39)	T707P	probably damaging	Het
Ccn6	A	G	10: 39,027,236 (GRCm39)	V332A	possibly damaging	Het
Cdh9	T	A	15: 16,849,162 (GRCm39)		probably null	Het
Chrd	T	C	16: 20,558,699 (GRCm39)		probably benign	Het
Cpn1	T	C	19: 43,969,369 (GRCm39)	Q98R	probably benign	Het
D630045J12Rik	A	G	6: 38,172,420 (GRCm39)	S583P	possibly damaging	Het
Dnah7a	A	G	1: 53,543,183 (GRCm39)	I2329T	possibly damaging	Het
Egln3	A	G	12: 54,249,996 (GRCm39)	S118P	probably benign	Het
Gfra1	G	A	19: 58,441,787 (GRCm39)	T48I	probably damaging	Het
Hapln3	C	T	7: 78,767,596 (GRCm39)		probably null	Het
Heatr3	T	C	8: 88,871,185 (GRCm39)	F180L	possibly damaging	Het
Herc2	T	A	7: 55,813,849 (GRCm39)	S2661T	probably damaging	Het
Hook3	A	T	8: 26,551,462 (GRCm39)	L126Q	possibly damaging	Het
Hoxd8	T	G	2: 74,536,930 (GRCm39)	L214R	probably damaging	Het
Ifna1	T	G	4: 88,768,670 (GRCm39)	L116R	probably damaging	Het
Il31ra	T	A	13: 112,660,886 (GRCm39)	T487S	probably benign	Het
Kifc2	C	T	15: 76,547,179 (GRCm39)	R252W	probably damaging	Het
Meox2	A	G	12: 37,228,333 (GRCm39)	D290G	probably damaging	Het
Micu2	A	G	14: 58,182,834 (GRCm39)		probably benign	Het
Myh9	T	C	15: 77,673,130 (GRCm39)	T406A	possibly damaging	Het
Naip1	T	A	13: 100,545,626 (GRCm39)	M1301L	probably benign	Het
Pbrm1	T	C	14: 30,828,244 (GRCm39)	L1341P	possibly damaging	Het
Pcna-ps2	C	A	19: 9,261,323 (GRCm39)	A194E	probably benign	Het
Pdcd10	G	A	3: 75,434,901 (GRCm39)	T130I	probably damaging	Het
Pprc1	G	A	19: 46,051,946 (GRCm39)	G491D	probably damaging	Het
Prss57	A	G	10: 79,623,309 (GRCm39)	V46A	probably benign	Het
Ptcd3	A	G	6: 71,860,426 (GRCm39)		probably null	Het
Riok1	C	T	13: 38,234,219 (GRCm39)	P262S	probably damaging	Het
Rnf13	A	G	3: 57,686,817 (GRCm39)	N70S	probably benign	Het
Skint7	T	A	4: 111,839,178 (GRCm39)	D157E	probably benign	Het
Sri	T	C	5: 8,117,534 (GRCm39)	F191S	probably damaging	Het
Stat5b	T	C	11: 100,678,200 (GRCm39)	R638G	probably benign	Het
Suds3	C	T	5: 117,232,970 (GRCm39)		probably null	Het
Tmem19	A	G	10: 115,178,478 (GRCm39)	L281P	probably damaging	Het
Tmf1	A	G	6: 97,141,003 (GRCm39)		probably benign	Het
Trio	A	G	15: 27,768,125 (GRCm39)		probably benign	Het
Usp28	T	C	9: 48,950,391 (GRCm39)	I940T	possibly damaging	Het
Zfp280d	T	A	9: 72,219,504 (GRCm39)	I227K	probably benign	Het
Zfp335	A	G	2: 164,752,609 (GRCm39)	V45A	probably benign	Het

Other mutations in Anxa8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Anxa8	APN	14	33,821,700 (GRCm39)	missense	probably benign	0.33
IGL01335:Anxa8	APN	14	33,811,547 (GRCm39)	missense	probably damaging	1.00
IGL02131:Anxa8	APN	14	33,812,588 (GRCm39)	missense	possibly damaging	0.90
IGL02887:Anxa8	APN	14	33,818,481 (GRCm39)	splice site	probably null
R0095:Anxa8	UTSW	14	33,808,028 (GRCm39)	missense	probably benign	0.19
R0095:Anxa8	UTSW	14	33,808,028 (GRCm39)	missense	probably benign	0.19
R0138:Anxa8	UTSW	14	33,819,897 (GRCm39)	missense	possibly damaging	0.54
R0138:Anxa8	UTSW	14	33,819,896 (GRCm39)	missense	probably benign	0.01
R0452:Anxa8	UTSW	14	33,816,727 (GRCm39)	missense	probably damaging	1.00
R1586:Anxa8	UTSW	14	33,815,894 (GRCm39)	missense	probably damaging	1.00
R1727:Anxa8	UTSW	14	33,811,547 (GRCm39)	missense	probably damaging	1.00
R1982:Anxa8	UTSW	14	33,818,527 (GRCm39)	missense	probably damaging	1.00
R2141:Anxa8	UTSW	14	33,813,873 (GRCm39)	critical splice donor site	probably null
R3921:Anxa8	UTSW	14	33,816,403 (GRCm39)	missense	probably damaging	1.00
R4803:Anxa8	UTSW	14	33,814,579 (GRCm39)	critical splice donor site	probably null
R5372:Anxa8	UTSW	14	33,815,868 (GRCm39)	missense	probably damaging	1.00
R6349:Anxa8	UTSW	14	33,819,850 (GRCm39)	missense	probably damaging	0.98
R6823:Anxa8	UTSW	14	33,816,722 (GRCm39)	missense	possibly damaging	0.88
R6837:Anxa8	UTSW	14	33,814,511 (GRCm39)	missense	probably damaging	1.00
R8079:Anxa8	UTSW	14	33,816,769 (GRCm39)	missense	probably benign	0.00
R8405:Anxa8	UTSW	14	33,819,881 (GRCm39)	missense	probably damaging	0.96
R9301:Anxa8	UTSW	14	33,819,932 (GRCm39)	missense	probably damaging	1.00
R9570:Anxa8	UTSW	14	33,814,509 (GRCm39)	missense	possibly damaging	0.78

Posted On

2015-04-16