Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02664:Saxo4'

302682

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Saxo4

Ensembl Gene

ENSMUSG00000035179

Gene Name

stabilizer of axonemal microtubules 4

Synonyms

IIIG9, IIIG9L, 4930579J09Rik, Ppp1r32, IIIG9S

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02664

Quality Score

Status

Chromosome

Chromosomal Location

10451599-10460292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10459655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 17 (S17R)

Ref Sequence

ENSEMBL: ENSMUSP00000035684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038842]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038842
AA Change: S17R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	T	5: 36,006,860 (GRCm39)	D425V	probably damaging	Het
Afdn	G	T	17: 14,072,728 (GRCm39)		probably benign	Het
Afg2a	A	G	3: 37,490,814 (GRCm39)	D453G	probably damaging	Het
Ap2a2	C	T	7: 141,209,136 (GRCm39)	T776I	probably benign	Het
Apcdd1	T	C	18: 63,084,891 (GRCm39)		probably benign	Het
Bdp1	A	T	13: 100,188,047 (GRCm39)	Y1513N	probably benign	Het
Btaf1	T	C	19: 36,955,828 (GRCm39)		probably benign	Het
C2cd3	A	T	7: 100,068,922 (GRCm39)	M917L	possibly damaging	Het
Cmtm6	T	C	9: 114,575,613 (GRCm39)	V174A	probably benign	Het
Cyp2d12	T	A	15: 82,443,535 (GRCm39)	I448K	probably benign	Het
Ddb1	A	G	19: 10,585,247 (GRCm39)	I101V	probably benign	Het
Dicer1	A	G	12: 104,671,388 (GRCm39)	Y961H	probably damaging	Het
Dnaaf1	T	G	8: 120,309,260 (GRCm39)	I116S	probably damaging	Het
Ecscr	T	A	18: 35,854,451 (GRCm39)	I5F	possibly damaging	Het
Eftud2	T	C	11: 102,732,538 (GRCm39)	E691G	probably damaging	Het
Fat2	A	G	11: 55,201,922 (GRCm39)	V384A	probably damaging	Het
Ftcd	T	C	10: 76,420,439 (GRCm39)	M391T	probably damaging	Het
Gab2	T	G	7: 96,953,389 (GRCm39)	S587R	probably damaging	Het
Gm18856	G	A	13: 14,139,809 (GRCm39)		probably benign	Het
Herc2	A	T	7: 55,785,426 (GRCm39)	R1559*	probably null	Het
Inpp5f	G	A	7: 128,265,738 (GRCm39)	R161H	probably damaging	Het
Iws1	A	T	18: 32,203,217 (GRCm39)	D31V	possibly damaging	Het
Klhl2	A	T	8: 65,205,801 (GRCm39)	Y373*	probably null	Het
Lce6a	A	T	3: 92,527,607 (GRCm39)	C67S	possibly damaging	Het
Lrba	A	G	3: 86,233,038 (GRCm39)	I800V	possibly damaging	Het
Mis18bp1	A	C	12: 65,200,654 (GRCm39)	Y407*	probably null	Het
Mllt3	A	C	4: 87,949,860 (GRCm39)	W29G	probably damaging	Het
Mon2	A	G	10: 122,845,401 (GRCm39)		probably benign	Het
Mtbp	C	T	15: 55,483,039 (GRCm39)	T372M	probably benign	Het
Nefm	A	T	14: 68,357,664 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,335,424 (GRCm39)		probably null	Het
Nf1	G	A	11: 79,335,425 (GRCm39)		probably null	Het
Ntn1	T	A	11: 68,276,295 (GRCm39)	I218F	probably benign	Het
Numa1	T	G	7: 101,648,109 (GRCm39)	S613R	possibly damaging	Het
Or14a259	C	T	7: 86,012,811 (GRCm39)	V245I	possibly damaging	Het
Pcsk5	A	T	19: 17,434,134 (GRCm39)	D1411E	probably damaging	Het
Prl2b1	G	T	13: 27,569,225 (GRCm39)	N124K	possibly damaging	Het
Rab15	T	C	12: 76,851,225 (GRCm39)	I30M	possibly damaging	Het
Rnf215	G	T	11: 4,090,307 (GRCm39)	V342L	probably damaging	Het
Togaram2	T	A	17: 72,036,234 (GRCm39)	I908N	probably damaging	Het
Trim54	A	G	5: 31,293,391 (GRCm39)	N205S	probably damaging	Het
Ttn	G	A	2: 76,697,795 (GRCm39)	T80I	possibly damaging	Het
Vmn2r106	G	A	17: 20,488,344 (GRCm39)	T685I	possibly damaging	Het
Vwa5b2	T	C	16: 20,414,063 (GRCm39)		probably benign	Het
Zfat	A	T	15: 68,052,570 (GRCm39)	I401N	probably damaging	Het
Zfp40	G	A	17: 23,395,960 (GRCm39)	S209F	probably benign	Het

Other mutations in Saxo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Saxo4	APN	19	10,454,887 (GRCm39)	critical splice donor site	probably null
IGL00979:Saxo4	APN	19	10,451,863 (GRCm39)	makesense	probably null
IGL02405:Saxo4	APN	19	10,451,930 (GRCm39)	missense	probably damaging	1.00
IGL03105:Saxo4	APN	19	10,454,384 (GRCm39)	splice site	probably benign
R0255:Saxo4	UTSW	19	10,452,418 (GRCm39)	missense	probably damaging	1.00
R0268:Saxo4	UTSW	19	10,454,449 (GRCm39)	missense	possibly damaging	0.88
R1018:Saxo4	UTSW	19	10,456,824 (GRCm39)	splice site	probably benign
R1559:Saxo4	UTSW	19	10,458,770 (GRCm39)	missense	probably benign	0.01
R2384:Saxo4	UTSW	19	10,458,646 (GRCm39)	critical splice donor site	probably null
R4362:Saxo4	UTSW	19	10,452,385 (GRCm39)	missense	probably damaging	1.00
R4884:Saxo4	UTSW	19	10,451,865 (GRCm39)	makesense	probably null
R5998:Saxo4	UTSW	19	10,458,716 (GRCm39)	missense	possibly damaging	0.50
R6130:Saxo4	UTSW	19	10,455,128 (GRCm39)	missense	probably benign	0.16
R6360:Saxo4	UTSW	19	10,456,845 (GRCm39)	missense	probably damaging	1.00
R6388:Saxo4	UTSW	19	10,459,665 (GRCm39)	missense	probably damaging	1.00
R6625:Saxo4	UTSW	19	10,459,100 (GRCm39)	missense	probably damaging	0.97
R6754:Saxo4	UTSW	19	10,454,453 (GRCm39)	missense	probably damaging	1.00
R7188:Saxo4	UTSW	19	10,459,702 (GRCm39)	missense	probably benign	0.15
R7361:Saxo4	UTSW	19	10,456,943 (GRCm39)	missense	probably damaging	1.00
R7679:Saxo4	UTSW	19	10,459,618 (GRCm39)	missense	probably damaging	1.00
R8157:Saxo4	UTSW	19	10,455,629 (GRCm39)	missense	probably damaging	1.00
R8797:Saxo4	UTSW	19	10,455,602 (GRCm39)	missense	probably benign	0.43
R8859:Saxo4	UTSW	19	10,459,599 (GRCm39)	missense	probably damaging	1.00
R9315:Saxo4	UTSW	19	10,458,767 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16