Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00979:Saxo4'

29551

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 #

IGL00979

Quality Score

Status

Chromosome

Chromosomal Location

10451599-10460292 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 10451863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 428 (*428W)

Ref Sequence

ENSEMBL: ENSMUSP00000035684 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000038842
AA Change: *428W

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
4933427I04Rik	A	T	4: 123,754,338 (GRCm39)	K84M	probably damaging	Het
A4gnt	T	A	9: 99,502,489 (GRCm39)	Y216*	probably null	Het
Abcb1b	A	G	5: 8,875,293 (GRCm39)		probably benign	Het
Ankrd50	G	A	3: 38,506,563 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,381,584 (GRCm39)	T89A	probably benign	Het
Ccdc15	C	T	9: 37,227,786 (GRCm39)	S236N	probably benign	Het
Cd34	A	C	1: 194,631,816 (GRCm39)	T151P	possibly damaging	Het
Col28a1	A	T	6: 8,014,810 (GRCm39)	V865E	probably damaging	Het
Csf2rb	T	A	15: 78,232,304 (GRCm39)	V537E	probably damaging	Het
Cux2	A	G	5: 122,011,777 (GRCm39)	F553L	probably damaging	Het
Dolk	A	T	2: 30,174,743 (GRCm39)	L434Q	probably damaging	Het
Dsg2	C	A	18: 20,715,824 (GRCm39)	D255E	probably damaging	Het
Endov	T	C	11: 119,391,444 (GRCm39)	V144A	probably damaging	Het
Grik2	T	C	10: 49,232,034 (GRCm39)	N499D	probably damaging	Het
Hephl1	G	T	9: 14,978,341 (GRCm39)	T855K	probably benign	Het
Hif1a	A	G	12: 73,988,784 (GRCm39)	D557G	probably damaging	Het
Idh1	G	A	1: 65,210,308 (GRCm39)	T75I	probably damaging	Het
Ighv1-37	A	G	12: 114,860,070 (GRCm39)	S47P	probably benign	Het
Irx4	A	G	13: 73,416,341 (GRCm39)		probably benign	Het
Itpr1	C	T	6: 108,448,081 (GRCm39)	A1871V	probably damaging	Het
Klkb1	A	G	8: 45,747,105 (GRCm39)		probably benign	Het
Lrrc8e	T	C	8: 4,285,080 (GRCm39)	L435P	probably damaging	Het
Megf11	T	A	9: 64,416,009 (GRCm39)	Y73N	probably damaging	Het
Nfe2	T	C	15: 103,157,607 (GRCm39)	D128G	probably damaging	Het
Or13a22	A	G	7: 140,072,614 (GRCm39)	E21G	probably benign	Het
Or4k51	T	A	2: 111,584,771 (GRCm39)	M59K	probably damaging	Het
Pak6	C	A	2: 118,526,963 (GRCm39)	L653I	probably damaging	Het
Pde4dip	T	A	3: 97,655,074 (GRCm39)		probably benign	Het
Pds5a	A	G	5: 65,789,066 (GRCm39)	V831A	probably benign	Het
Prc1	G	T	7: 79,957,444 (GRCm39)		probably null	Het
Ptprs	C	T	17: 56,765,243 (GRCm39)	G14S	probably damaging	Het
Pygb	A	G	2: 150,661,833 (GRCm39)	K520E	probably benign	Het
Rimbp2	A	G	5: 128,883,505 (GRCm39)	S92P	probably benign	Het
Samd4b	A	T	7: 28,113,638 (GRCm39)	L109Q	probably damaging	Het
Scn8a	A	T	15: 100,853,287 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,545,991 (GRCm39)	I23V	unknown	Het
Sec61a2	A	G	2: 5,876,831 (GRCm39)	Y350H	possibly damaging	Het
Slc4a3	A	T	1: 75,530,891 (GRCm39)	Q759L	probably damaging	Het
Speg	C	T	1: 75,387,378 (GRCm39)	P1378L	probably damaging	Het
Spta1	T	G	1: 174,035,956 (GRCm39)	Y1087*	probably null	Het
Tenm4	A	G	7: 96,378,598 (GRCm39)	E401G	probably damaging	Het
Tom1	C	A	8: 75,781,331 (GRCm39)		probably benign	Het
Ttc3	T	A	16: 94,257,577 (GRCm39)	V1273D	probably damaging	Het
Vmn2r106	G	T	17: 20,497,837 (GRCm39)	D467E	possibly damaging	Het
Washc4	A	T	10: 83,386,747 (GRCm39)	T124S	probably benign	Het
Zfp790	A	G	7: 29,529,034 (GRCm39)	E573G	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
IGL02405:Saxo4	APN	19	10,451,930 (GRCm39)	missense	probably damaging	1.00
IGL02664:Saxo4	APN	19	10,459,655 (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

2013-04-17