Mutagenetix > Incidental Mutation

Incidental Mutation 'R1018:Saxo4'

96685

Institutional Source

Beutler Lab

Gene Symbol

Saxo4

Ensembl Gene

ENSMUSG00000035179

Gene Name

stabilizer of axonemal microtubules 4

Synonyms

IIIG9, IIIG9L, 4930579J09Rik, Ppp1r32, IIIG9S

MMRRC Submission

039122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1018 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

10451599-10460292 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 10456824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035684 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038842

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,837,325 (GRCm39)	C403F	probably damaging	Het
Adam20	C	T	8: 41,249,146 (GRCm39)	Q419*	probably null	Het
Ankrd36	C	T	11: 5,596,876 (GRCm39)		probably benign	Het
Arl8b	T	A	6: 108,795,572 (GRCm39)	I170K	probably damaging	Het
Atp5pb	A	T	3: 105,861,488 (GRCm39)	V78E	possibly damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cgnl1	A	G	9: 71,633,340 (GRCm39)	Y4H	probably damaging	Het
Cnn2	T	C	10: 79,829,397 (GRCm39)	C176R	probably damaging	Het
Dst	A	G	1: 34,233,174 (GRCm39)	D3392G	probably damaging	Het
Eed	T	C	7: 89,617,019 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,412,221 (GRCm39)	V870E	possibly damaging	Het
Epx	T	C	11: 87,760,129 (GRCm39)	N495S	probably benign	Het
Fbxw20	T	A	9: 109,050,404 (GRCm39)	Y407F	probably benign	Het
Gbp9	T	A	5: 105,228,126 (GRCm39)	Q552L	probably benign	Het
Hspa13	C	A	16: 75,558,164 (GRCm39)	V134L	possibly damaging	Het
Il16	T	C	7: 83,323,746 (GRCm39)	N268S	probably damaging	Het
Kif14	G	A	1: 136,423,579 (GRCm39)		probably benign	Het
Lrig1	G	A	6: 94,599,583 (GRCm39)		probably benign	Het
Myo7a	T	A	7: 97,756,212 (GRCm39)	D29V	probably damaging	Het
Nsd2	A	G	5: 34,000,585 (GRCm39)	K34R	probably damaging	Het
Or4a15	C	A	2: 89,193,523 (GRCm39)	L83F	possibly damaging	Het
P3h1	C	A	4: 119,095,104 (GRCm39)	T287K	probably damaging	Het
Pkhd1	A	T	1: 20,271,483 (GRCm39)	H3023Q	possibly damaging	Het
Plxna1	A	G	6: 89,319,942 (GRCm39)	L535P	probably damaging	Het
Prom1	A	T	5: 44,187,056 (GRCm39)	S400R	probably benign	Het
Psap	T	G	10: 60,136,590 (GRCm39)	L523R	probably damaging	Het
Psme4	C	T	11: 30,754,310 (GRCm39)	T189I	probably damaging	Het
Ptpn12	A	T	5: 21,234,867 (GRCm39)	S39T	possibly damaging	Het
Qtrt2	T	A	16: 43,698,363 (GRCm39)	H98L	possibly damaging	Het
Rad54l2	C	A	9: 106,589,589 (GRCm39)	C601F	probably benign	Het
Sfswap	A	G	5: 129,631,640 (GRCm39)	K756R	possibly damaging	Het
Slc24a5	T	C	2: 124,910,827 (GRCm39)	V86A	probably damaging	Het
Srrm2	T	C	17: 24,041,514 (GRCm39)	S2575P	probably damaging	Het
Stam	T	C	2: 14,122,185 (GRCm39)		probably benign	Het
Tbx6	T	A	7: 126,382,364 (GRCm39)		probably benign	Het
Tmem131	A	C	1: 36,833,900 (GRCm39)	F1727V	probably damaging	Het
Tpr	T	A	1: 150,317,934 (GRCm39)	H2147Q	possibly damaging	Het
Trio	T	A	15: 27,871,257 (GRCm39)	H620L	probably damaging	Het
Uba5	T	C	9: 103,927,102 (GRCm39)	T292A	probably benign	Het
Unc5a	T	A	13: 55,138,765 (GRCm39)	V48E	possibly damaging	Het
Upf1	G	T	8: 70,791,556 (GRCm39)	H514Q	possibly damaging	Het
Usp9y	A	G	Y: 1,341,414 (GRCm39)		probably benign	Het
Vmn2r6	T	A	3: 64,464,261 (GRCm39)	D191V	probably benign	Het
Wapl	T	C	14: 34,413,863 (GRCm39)	Y242H	possibly damaging	Het
Zfp341	A	T	2: 154,487,972 (GRCm39)	N812Y	probably damaging	Het
Zfp358	C	A	8: 3,546,843 (GRCm39)	S475*	probably null	Het
Zfp957	C	A	14: 79,450,182 (GRCm39)	C539F	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGGGTATGGTGGACACTTTGATG -3'
(R):5'- GACAGAATGTGACTGGCACTCTCTC -3'

Sequencing Primer
(F):5'- agaagtgggagtgggtagg -3'
(R):5'- GACTGGCACTCTCTCTCACG -3'

Posted On

2014-01-05