Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01335:Anxa8'

74593

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 #

IGL01335

Quality Score

Status

Chromosome

Chromosomal Location

33807938-33822528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33811547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 34 (M34T)

Ref Sequence

ENSEMBL: ENSMUSP00000022519 (fasta)

Gene Model

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

AlphaFold

O35640

Predicted Effect

probably damaging
Transcript: ENSMUST00000022519
AA Change: M34T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022519
Gene: ENSMUSG00000021950
AA Change: M34T

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: M34T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113662
Gene: ENSMUSG00000021950
AA Change: M34T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227780

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	A	2: 152,284,307 (GRCm39)	M300K	possibly damaging	Het
Adamts14	T	A	10: 61,034,460 (GRCm39)	R1143W	possibly damaging	Het
Ankrd28	T	C	14: 31,423,981 (GRCm39)	Y1083C	probably damaging	Het
Aox1	G	T	1: 58,121,312 (GRCm39)	E928*	probably null	Het
Atp8b5	T	A	4: 43,302,628 (GRCm39)	F50L	possibly damaging	Het
Brpf1	A	G	6: 113,296,298 (GRCm39)	S863G	probably damaging	Het
Cdc42bpb	A	G	12: 111,260,530 (GRCm39)		probably benign	Het
Cdh6	C	T	15: 13,051,395 (GRCm39)	A413T	probably benign	Het
Cfap96	A	T	8: 46,426,642 (GRCm39)		probably benign	Het
Cfap97	A	G	8: 46,623,492 (GRCm39)	Q294R	probably damaging	Het
Cit	C	T	5: 116,046,889 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,690,497 (GRCm39)	Y736C	possibly damaging	Het
Eno2	C	T	6: 124,743,618 (GRCm39)	G107E	probably damaging	Het
Gja8	T	C	3: 96,826,558 (GRCm39)	Q368R	probably benign	Het
Gm3633	T	A	14: 42,462,595 (GRCm39)		probably benign	Het
Gm4987	A	T	X: 45,544,755 (GRCm39)		noncoding transcript	Het
Gna13	G	A	11: 109,256,569 (GRCm39)	R164Q	probably damaging	Het
Grhl1	A	T	12: 24,658,057 (GRCm39)	E351D	probably damaging	Het
Idua	A	G	5: 108,828,737 (GRCm39)	Q280R	probably benign	Het
Igsf5	T	A	16: 96,174,353 (GRCm39)		probably benign	Het
Mrpl52	T	C	14: 54,664,656 (GRCm39)	Y39H	probably damaging	Het
Naa16	A	T	14: 79,582,556 (GRCm39)		probably benign	Het
Naa35	T	A	13: 59,764,610 (GRCm39)	L338Q	probably damaging	Het
Nat8l	A	T	5: 34,155,791 (GRCm39)	Y149F	probably benign	Het
Nck1	A	T	9: 100,379,790 (GRCm39)	W154R	probably damaging	Het
Ncoa1	A	T	12: 4,347,520 (GRCm39)	S351R	probably benign	Het
Or10w1	A	T	19: 13,632,540 (GRCm39)	H249L	probably damaging	Het
Or12e10	A	T	2: 87,640,790 (GRCm39)	T209S	probably damaging	Het
Or6c8b	T	C	10: 128,882,380 (GRCm39)	K184R	probably benign	Het
Or8k1	A	T	2: 86,047,916 (GRCm39)	L46Q	probably damaging	Het
Pacs1	A	T	19: 5,192,660 (GRCm39)	V624E	probably damaging	Het
Pde6b	G	A	5: 108,571,379 (GRCm39)	R444H	probably benign	Het
Pigk	A	T	3: 152,448,173 (GRCm39)	T226S	probably benign	Het
Prkdc	T	C	16: 15,634,760 (GRCm39)		probably null	Het
Ptbp1	G	A	10: 79,698,708 (GRCm39)		probably null	Het
Pyroxd1	T	C	6: 142,307,484 (GRCm39)	V418A	probably damaging	Het
Rhot1	A	T	11: 80,141,055 (GRCm39)	D421V	probably damaging	Het
Rimkla	T	C	4: 119,335,156 (GRCm39)	T76A	possibly damaging	Het
Rtn1	A	G	12: 72,355,124 (GRCm39)	V274A	probably benign	Het
Tatdn2	T	A	6: 113,681,017 (GRCm39)	M289K	probably benign	Het
Trak1	A	G	9: 121,283,382 (GRCm39)	T476A	possibly damaging	Het
Ube2i	C	A	17: 25,488,410 (GRCm39)	Q11H	probably damaging	Het
Ugt2a3	A	T	5: 87,484,644 (GRCm39)	C127S	probably damaging	Het
Uimc1	T	A	13: 55,182,724 (GRCm39)	Q619L	probably benign	Het
Upk3a	T	A	15: 84,903,786 (GRCm39)	Y162N	probably damaging	Het
Usp33	T	C	3: 152,097,854 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	G	A	17: 57,832,732 (GRCm39)	T149I	possibly damaging	Het
Vmn2r15	G	A	5: 109,434,602 (GRCm39)	P701S	possibly damaging	Het
Vmn2r28	T	C	7: 5,484,087 (GRCm39)	I704M	possibly damaging	Het
Wdhd1	T	C	14: 47,488,239 (GRCm39)	E756G	possibly damaging	Het
Xlr3c	C	A	X: 72,303,639 (GRCm39)	V102F	probably benign	Het
Zfp384	T	G	6: 125,002,016 (GRCm39)	D220E	probably benign	Het
Zfp521	A	T	18: 13,977,776 (GRCm39)	V879E	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
IGL02131:Anxa8	APN	14	33,812,588 (GRCm39)	missense	possibly damaging	0.90
IGL02675:Anxa8	APN	14	33,815,371 (GRCm39)	missense	probably damaging	0.98
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

2013-10-07