Mutagenetix > Incidental Mutation

Incidental Mutation 'R6837:Anxa8'

537913

Institutional Source

Beutler Lab

Gene Symbol

Anxa8

Ensembl Gene

ENSMUSG00000021950

Gene Name

annexin A8

Synonyms

Anx8

MMRRC Submission

044945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6837 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33807938-33822528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33814511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 116 (I116F)

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: I116F

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

SMART Domains

Protein: ENSMUSP00000022519
Gene: ENSMUSG00000021950
AA Change: I116F

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: I116F

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

SMART Domains

Protein: ENSMUSP00000113662
Gene: ENSMUSG00000021950
AA Change: I116F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (41/42)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	A	12: 53,188,045 (GRCm39)	E1820K	probably damaging	Het
Arid4a	A	G	12: 71,122,289 (GRCm39)	D890G	probably benign	Het
Aup1	C	T	6: 83,034,279 (GRCm39)	T396I	possibly damaging	Het
C2cd3	G	C	7: 100,097,953 (GRCm39)	E594Q	probably damaging	Het
Colgalt2	C	T	1: 152,382,579 (GRCm39)	P477L	probably damaging	Het
Dennd3	G	A	15: 73,429,542 (GRCm39)	D20N	probably damaging	Het
Dpysl3	A	G	18: 43,570,947 (GRCm39)	I109T	probably benign	Het
Fas	A	T	19: 34,284,564 (GRCm39)	T24S	probably damaging	Het
Fras1	A	T	5: 96,874,832 (GRCm39)	I2332F	probably damaging	Het
Gm10267	T	C	18: 44,291,375 (GRCm39)	H32R	probably benign	Het
Gm57859	A	G	11: 113,579,439 (GRCm39)	H278R	possibly damaging	Het
Hcfc2	A	T	10: 82,575,030 (GRCm39)	I230F	probably damaging	Het
Hdac9	T	C	12: 34,337,463 (GRCm39)	T673A	probably benign	Het
Herc2	T	G	7: 55,839,589 (GRCm39)	N3366K	possibly damaging	Het
Hhla1	T	C	15: 65,820,334 (GRCm39)	N139D	probably damaging	Het
Hip1r	A	G	5: 124,136,928 (GRCm39)	E632G	possibly damaging	Het
Kcnc2	A	G	10: 112,294,407 (GRCm39)	D98G	probably damaging	Het
Maip1	T	A	1: 57,454,891 (GRCm39)	*292K	probably null	Het
Map2	T	C	1: 66,453,731 (GRCm39)	F874L	probably damaging	Het
Myof	A	T	19: 37,911,404 (GRCm39)		probably null	Het
Notch2	A	G	3: 97,978,170 (GRCm39)		probably null	Het
Npy5r	T	A	8: 67,134,392 (GRCm39)	M134L	probably benign	Het
Ntsr2	T	A	12: 16,709,710 (GRCm39)	M225K	probably benign	Het
Nup153	G	A	13: 46,847,527 (GRCm39)	T634I	probably damaging	Het
Or51f1d	T	A	7: 102,700,929 (GRCm39)	Y141*	probably null	Het
Pcsk5	T	C	19: 17,416,448 (GRCm39)	S1667G	probably benign	Het
Pex13	A	G	11: 23,599,527 (GRCm39)	I328T	possibly damaging	Het
Pkd2	T	G	5: 104,624,909 (GRCm39)	L235W	probably damaging	Het
Prune2	A	T	19: 17,156,292 (GRCm39)	D66V	probably damaging	Het
Rasal3	T	C	17: 32,622,044 (GRCm39)	N105S	probably benign	Het
Sla	A	T	15: 66,658,939 (GRCm39)	I144N	probably damaging	Het
Slc5a4b	A	T	10: 75,898,220 (GRCm39)	I498N	possibly damaging	Het
Snx14	C	T	9: 88,262,276 (GRCm39)	E872K	probably benign	Het
Stx16	G	A	2: 173,935,795 (GRCm39)	R242H	probably benign	Het
Tg	T	C	15: 66,567,984 (GRCm39)	F1296S	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmf1	G	A	6: 97,153,542 (GRCm39)	T177M	possibly damaging	Het
Tuba4a	T	C	1: 75,194,038 (GRCm39)	Q14R	probably damaging	Het
Vmn2r114	T	C	17: 23,529,176 (GRCm39)	M309V	probably benign	Het
Vps13c	C	T	9: 67,817,504 (GRCm39)	P1059S	probably benign	Het
Yars1	T	A	4: 129,103,544 (GRCm39)	S298T	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCTGTCCTAAGAAACAATGGTG -3'
(R):5'- GGGCACTAGTTGGACTTTATCTC -3'

Sequencing Primer
(F):5'- CAATGGTGGGGATTCAATATCAC -3'
(R):5'- GCACTAGTTGGACTTTATCTCAGAAG -3'

Posted On

2018-10-18