Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03139:Saxo1'

410626

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Saxo1

Ensembl Gene

ENSMUSG00000028492

Gene Name

stabilizer of axonemal microtubules 1

Synonyms

Fam154a, 4930500O09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL03139

Quality Score

Status

Chromosome

Chromosomal Location

86362878-86476565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86405999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 67 (M67V)

Ref Sequence

ENSEMBL: ENSMUSP00000030216 (fasta)

Gene Model

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

AlphaFold

B1AXP3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030216
AA Change: M67V

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030216
Gene: ENSMUSG00000028492
AA Change: M67V

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: ENSMUST00000133793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151481

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,391,067 (GRCm39)	F97L	probably benign	Het
Acad10	T	C	5: 121,764,145 (GRCm39)	Y928C	probably benign	Het
Aqp7	A	G	4: 41,045,326 (GRCm39)	M18T	probably benign	Het
Atxn7	T	C	14: 14,052,994 (GRCm38)	V144A	probably damaging	Het
Baiap2l2	T	A	15: 79,155,753 (GRCm39)	N107I	probably damaging	Het
Cd180	A	G	13: 102,842,924 (GRCm39)	K657E	probably damaging	Het
Cep192	T	C	18: 67,961,547 (GRCm39)		probably null	Het
Cma2	A	G	14: 56,211,256 (GRCm39)	I183V	probably damaging	Het
Col18a1	C	A	10: 76,949,177 (GRCm39)	A112S	possibly damaging	Het
Ctu2	A	G	8: 123,205,446 (GRCm39)	D100G	possibly damaging	Het
Defb29	T	C	2: 152,380,812 (GRCm39)	K66E	probably damaging	Het
Dis3l	T	A	9: 64,219,232 (GRCm39)	D566V	probably damaging	Het
Dtx1	C	A	5: 120,832,955 (GRCm39)	R161L	probably damaging	Het
Efcab6	T	A	15: 83,836,422 (GRCm39)	L436F	probably benign	Het
Fip1l1	A	G	5: 74,731,776 (GRCm39)	I254V	possibly damaging	Het
Gid8	C	A	2: 180,356,501 (GRCm39)	A46E	probably damaging	Het
Grm8	G	T	6: 27,618,649 (GRCm39)	Q398K	probably damaging	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Iigp1c	T	C	18: 60,379,221 (GRCm39)	V252A	probably benign	Het
Kcnt1	T	C	2: 25,784,480 (GRCm39)		probably benign	Het
Lrrc8a	T	C	2: 30,145,683 (GRCm39)	S166P	probably damaging	Het
Map2k6	A	T	11: 110,387,299 (GRCm39)		probably benign	Het
Mmab	A	G	5: 114,571,405 (GRCm39)	L157P	probably damaging	Het
Mmrn1	A	T	6: 60,953,324 (GRCm39)	E535V	probably damaging	Het
Mup4	T	C	4: 59,958,482 (GRCm39)		probably benign	Het
Nup210	A	G	6: 90,997,221 (GRCm39)	S820P	probably benign	Het
Or52b4	A	G	7: 102,184,517 (GRCm39)	K188E	possibly damaging	Het
Pik3cg	T	C	12: 32,242,222 (GRCm39)	I963V	probably damaging	Het
Plcg1	T	C	2: 160,590,049 (GRCm39)		probably null	Het
Plscr1	T	C	9: 92,148,438 (GRCm39)		probably benign	Het
Prss36	C	T	7: 127,532,783 (GRCm39)	G202E	probably damaging	Het
Psen2	A	T	1: 180,068,350 (GRCm39)	V101E	probably damaging	Het
Sfrp4	G	A	13: 19,807,728 (GRCm39)	M42I	probably damaging	Het
Strn3	C	A	12: 51,699,633 (GRCm39)		probably benign	Het
Tgfb1i1	C	A	7: 127,848,476 (GRCm39)	P197Q	possibly damaging	Het
Thsd4	A	G	9: 59,904,456 (GRCm39)	V580A	probably benign	Het
Tjp1	C	A	7: 64,990,182 (GRCm39)		probably benign	Het
Tprn	C	T	2: 25,154,066 (GRCm39)	A456V	probably benign	Het
Ttc34	T	C	4: 154,945,727 (GRCm39)	Y763H	probably benign	Het
Ttn	T	C	2: 76,601,507 (GRCm39)	T18686A	probably benign	Het
Uggt2	T	A	14: 119,332,722 (GRCm39)	T71S	probably benign	Het
Vmn2r120	T	A	17: 57,831,742 (GRCm39)	Y349F	probably benign	Het
Zbtb41	A	G	1: 139,351,576 (GRCm39)	T230A	probably benign	Het

Other mutations in Saxo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Saxo1	APN	4	86,363,809 (GRCm39)	missense	probably damaging	1.00
IGL00563:Saxo1	APN	4	86,363,809 (GRCm39)	missense	probably damaging	1.00
IGL01816:Saxo1	APN	4	86,363,851 (GRCm39)	missense	probably benign	0.03
IGL02941:Saxo1	APN	4	86,363,821 (GRCm39)	missense	probably damaging	1.00
R0498:Saxo1	UTSW	4	86,397,133 (GRCm39)	missense	possibly damaging	0.78
R0522:Saxo1	UTSW	4	86,363,340 (GRCm39)	missense	probably damaging	1.00
R1126:Saxo1	UTSW	4	86,397,224 (GRCm39)	missense	probably benign	0.30
R2203:Saxo1	UTSW	4	86,363,998 (GRCm39)	missense	probably damaging	1.00
R2261:Saxo1	UTSW	4	86,397,212 (GRCm39)	missense	probably damaging	1.00
R2262:Saxo1	UTSW	4	86,397,212 (GRCm39)	missense	probably damaging	1.00
R4017:Saxo1	UTSW	4	86,476,233 (GRCm39)	missense	possibly damaging	0.82
R4629:Saxo1	UTSW	4	86,406,064 (GRCm39)	missense	probably damaging	1.00
R5199:Saxo1	UTSW	4	86,406,019 (GRCm39)	missense	probably damaging	1.00
R5471:Saxo1	UTSW	4	86,363,961 (GRCm39)	missense	probably damaging	1.00
R5626:Saxo1	UTSW	4	86,363,826 (GRCm39)	missense	probably damaging	1.00
R5679:Saxo1	UTSW	4	86,363,272 (GRCm39)	missense	possibly damaging	0.89
R5710:Saxo1	UTSW	4	86,363,272 (GRCm39)	missense	possibly damaging	0.89
R5782:Saxo1	UTSW	4	86,364,044 (GRCm39)	missense	probably damaging	0.96
R6900:Saxo1	UTSW	4	86,363,571 (GRCm39)	missense	possibly damaging	0.94
R7035:Saxo1	UTSW	4	86,363,359 (GRCm39)	missense	probably damaging	1.00
R7491:Saxo1	UTSW	4	86,363,644 (GRCm39)	missense	probably benign	0.27
R9524:Saxo1	UTSW	4	86,397,132 (GRCm39)	missense	probably benign	0.05
R9525:Saxo1	UTSW	4	86,363,186 (GRCm39)	nonsense	probably null
Z1176:Saxo1	UTSW	4	86,364,040 (GRCm39)	frame shift	probably null

Posted On

2016-08-02