Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00563:Saxo1'

277779

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Saxo1

Ensembl Gene

ENSMUSG00000028492

Gene Name

stabilizer of axonemal microtubules 1

Synonyms

4930500O09Rik, Fam154a

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL00563

Quality Score

Status

Chromosome

Chromosomal Location

86444641-86558328 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86445572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 225 (E225K)

Ref Sequence

ENSEMBL: ENSMUSP00000030216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030216]

AlphaFold

B1AXP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000030216
AA Change: E225K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030216
Gene: ENSMUSG00000028492
AA Change: E225K

Domain	Start	End	E-Value	Type
Pfam:STOP	5	129	2.4e-13	PFAM
Pfam:STOP	88	265	1.6e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151481

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	C	5: 24,997,621		probably benign	Het
Atp13a4	T	C	16: 29,403,778		probably benign	Het
AU016765	C	A	17: 64,519,882		noncoding transcript	Het
Clstn2	A	G	9: 97,582,452		probably benign	Het
Crip1	T	A	12: 113,153,612		probably null	Het
Dnah6	T	C	6: 73,195,620	N285S	possibly damaging	Het
Fktn	A	T	4: 53,747,007		probably null	Het
Fndc3a	C	A	14: 72,559,357		probably benign	Het
Focad	T	A	4: 88,348,809	M1019K	unknown	Het
Fuca2	A	T	10: 13,505,907	D188V	probably damaging	Het
Gzmk	C	T	13: 113,173,124	V92I	probably benign	Het
Mprip	C	T	11: 59,752,617	R520W	probably damaging	Het
Mrpl19	A	G	6: 81,965,872	V19A	probably benign	Het
Ndufb3	T	A	1: 58,595,799	H103Q	possibly damaging	Het
Pkd1l3	T	C	8: 109,656,147	V1675A	possibly damaging	Het
Sbno1	A	G	5: 124,402,205	S383P	probably damaging	Het
Slc22a29	T	A	19: 8,161,629	T490S	probably benign	Het
Smc6	T	A	12: 11,301,531	S854T	probably benign	Het
Smim23	T	C	11: 32,821,893	T58A	probably benign	Het
Tas2r134	T	C	2: 51,628,088	I193T	possibly damaging	Het
Thsd7a	G	T	6: 12,379,659		probably null	Het
Trav13n-4	T	G	14: 53,363,966	V64G	possibly damaging	Het
Trmt10a	G	A	3: 138,147,416	E13K	probably damaging	Het
Txndc11	T	C	16: 11,104,632	S239G	probably damaging	Het
Vmn2r96	T	A	17: 18,583,815	N442K	probably benign	Het
Vps13a	C	T	19: 16,734,714		probably null	Het
Wdr64	A	G	1: 175,698,800	D5G	probably benign	Het

Other mutations in Saxo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Saxo1	APN	4	86445572	missense	probably damaging	1.00
IGL01816:Saxo1	APN	4	86445614	missense	probably benign	0.03
IGL02941:Saxo1	APN	4	86445584	missense	probably damaging	1.00
IGL03139:Saxo1	APN	4	86487762	missense	possibly damaging	0.49
R0498:Saxo1	UTSW	4	86478896	missense	possibly damaging	0.78
R0522:Saxo1	UTSW	4	86445103	missense	probably damaging	1.00
R1126:Saxo1	UTSW	4	86478987	missense	probably benign	0.30
R2203:Saxo1	UTSW	4	86445761	missense	probably damaging	1.00
R2261:Saxo1	UTSW	4	86478975	missense	probably damaging	1.00
R2262:Saxo1	UTSW	4	86478975	missense	probably damaging	1.00
R4017:Saxo1	UTSW	4	86557996	missense	possibly damaging	0.82
R4629:Saxo1	UTSW	4	86487827	missense	probably damaging	1.00
R5199:Saxo1	UTSW	4	86487782	missense	probably damaging	1.00
R5471:Saxo1	UTSW	4	86445724	missense	probably damaging	1.00
R5626:Saxo1	UTSW	4	86445589	missense	probably damaging	1.00
R5679:Saxo1	UTSW	4	86445035	missense	possibly damaging	0.89
R5710:Saxo1	UTSW	4	86445035	missense	possibly damaging	0.89
R5782:Saxo1	UTSW	4	86445807	missense	probably damaging	0.96
R6900:Saxo1	UTSW	4	86445334	missense	possibly damaging	0.94
R7035:Saxo1	UTSW	4	86445122	missense	probably damaging	1.00
R7491:Saxo1	UTSW	4	86445407	missense	probably benign	0.27
R9524:Saxo1	UTSW	4	86478895	missense	probably benign	0.05
R9525:Saxo1	UTSW	4	86444949	nonsense	probably null
Z1176:Saxo1	UTSW	4	86445803	frame shift	probably null

Posted On

2015-04-16