Mutagenetix > Incidental Mutation

Incidental Mutation 'R7035:Saxo1'

546590

Institutional Source

Beutler Lab

Gene Symbol

Saxo1

Ensembl Gene

ENSMUSG00000028492

Gene Name

stabilizer of axonemal microtubules 1

Synonyms

Fam154a, 4930500O09Rik

MMRRC Submission

045136-MU

Accession Numbers

Essential gene?

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

Stock #

R7035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86362878-86476565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86363359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 375 (T375A)

Ref Sequence

ENSEMBL: ENSMUSP00000030216 (fasta)

Gene Model

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

AlphaFold

B1AXP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000030216
AA Change: T375A

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

SMART Domains

Protein: ENSMUSP00000030216
Gene: ENSMUSG00000028492
AA Change: T375A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,777,272 (GRCm39)	F78I	probably benign	Het
1700102P08Rik	A	T	9: 108,272,510 (GRCm39)	D140V	possibly damaging	Het
6430548M08Rik	A	T	8: 120,879,225 (GRCm39)	S208C	probably damaging	Het
Abcd4	G	T	12: 84,662,123 (GRCm39)	T41K	probably damaging	Het
Acaca	C	T	11: 84,129,769 (GRCm39)	R375C	probably damaging	Het
Acad11	T	A	9: 103,990,694 (GRCm39)	V433D	probably damaging	Het
Adal	T	A	2: 120,985,942 (GRCm39)	C226S	probably benign	Het
Aldh3b2	A	T	19: 4,028,142 (GRCm39)	M95L	probably benign	Het
Ano4	A	G	10: 88,790,573 (GRCm39)	F842S	probably damaging	Het
Ap5s1	T	C	2: 131,054,732 (GRCm39)	F181S	probably damaging	Het
Apba1	G	A	19: 23,894,931 (GRCm39)	D456N	possibly damaging	Het
Armh4	T	A	14: 50,010,507 (GRCm39)	H400L	possibly damaging	Het
Atp6v0a1	A	C	11: 100,918,183 (GRCm39)	Q199H	probably damaging	Het
Atp8a1	C	G	5: 67,938,373 (GRCm39)	G161A	probably benign	Het
Atxn2	C	T	5: 121,949,530 (GRCm39)	Q61*	probably null	Het
Cacna2d1	T	A	5: 16,451,670 (GRCm39)	I178K	probably damaging	Het
Catsperb	A	C	12: 101,381,593 (GRCm39)	T92P	probably damaging	Het
Ccdc175	A	G	12: 72,202,419 (GRCm39)	I292T	probably benign	Het
Cep290	T	A	10: 100,334,933 (GRCm39)	S318T	probably benign	Het
Cfb	T	A	17: 35,079,007 (GRCm39)	Y826F	possibly damaging	Het
Cntn1	C	A	15: 92,212,392 (GRCm39)	D851E	probably benign	Het
Coq6	A	G	12: 84,415,415 (GRCm39)	D146G	probably damaging	Het
Crem	G	A	18: 3,327,503 (GRCm39)	T12I	probably damaging	Het
Dennd4c	G	A	4: 86,730,574 (GRCm39)	V824I	probably damaging	Het
Dnase2b	C	T	3: 146,288,096 (GRCm39)	C333Y	probably damaging	Het
Dop1a	T	A	9: 86,406,355 (GRCm39)	F365I	possibly damaging	Het
Dysf	A	T	6: 84,163,374 (GRCm39)	I1570F	probably benign	Het
Eml1	T	A	12: 108,475,493 (GRCm39)	C275S	probably damaging	Het
Fam135b	A	C	15: 71,334,102 (GRCm39)	S1031A	possibly damaging	Het
Gga2	T	C	7: 121,588,939 (GRCm39)	D596G	probably damaging	Het
Gin1	A	C	1: 97,720,100 (GRCm39)	Y365S	possibly damaging	Het
Gipr	T	A	7: 18,896,809 (GRCm39)	I154F	probably damaging	Het
Gm5478	A	T	15: 101,553,632 (GRCm39)	I284N	possibly damaging	Het
Gnat1	A	T	9: 107,553,827 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,650,569 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,088,044 (GRCm39)	I1554N		Het
Mycbp2	T	A	14: 103,412,417 (GRCm39)	T2519S	probably benign	Het
Mylk	G	A	16: 34,797,352 (GRCm39)	V1604M	possibly damaging	Het
Mypop	C	T	7: 18,725,922 (GRCm39)		probably benign	Het
Nol6	A	T	4: 41,118,479 (GRCm39)	V774E	probably benign	Het
Nol8	T	C	13: 49,814,678 (GRCm39)	V262A	probably benign	Het
Npepps	A	T	11: 97,113,965 (GRCm39)	V637D	probably damaging	Het
Or1e16	T	C	11: 73,286,544 (GRCm39)	I101M	probably benign	Het
Or4f52	A	G	2: 111,061,784 (GRCm39)	M118T	probably damaging	Het
Or5p52	T	C	7: 107,502,140 (GRCm39)	V72A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,201 (GRCm39)	I424F	possibly damaging	Het
Phf7	A	C	14: 30,961,183 (GRCm39)	W231G	probably damaging	Het
Plagl1	A	G	10: 13,003,977 (GRCm39)		probably benign	Het
Plat	A	T	8: 23,262,327 (GRCm39)	D117V	probably benign	Het
Prkag2	T	C	5: 25,152,564 (GRCm39)	Y180C	probably damaging	Het
Prpf8	T	C	11: 75,395,654 (GRCm39)	I1927T	possibly damaging	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Rad17	T	A	13: 100,764,133 (GRCm39)	D446V	possibly damaging	Het
Ralgapa2	G	T	2: 146,353,777 (GRCm39)	Q15K	probably damaging	Het
Ret	A	G	6: 118,140,247 (GRCm39)	Y982H	probably damaging	Het
Rnf145	T	A	11: 44,452,583 (GRCm39)	S521T	probably damaging	Het
Samd4	G	A	14: 47,326,620 (GRCm39)		silent	Het
Sardh	T	C	2: 27,120,854 (GRCm39)	D390G	probably damaging	Het
Scly	A	G	1: 91,236,125 (GRCm39)	T126A	probably damaging	Het
Slc6a16	T	A	7: 44,910,251 (GRCm39)	V307D	probably damaging	Het
Sned1	T	C	1: 93,189,852 (GRCm39)	C320R	probably damaging	Het
Sspo	G	A	6: 48,426,147 (GRCm39)		probably null	Het
Sycp2l	C	T	13: 41,310,973 (GRCm39)	T645I	unknown	Het
Tpmt	T	C	13: 47,193,584 (GRCm39)	K72E	probably damaging	Het
Tsbp1	C	T	17: 34,679,305 (GRCm39)		probably benign	Het
Ube2q2l	G	A	6: 136,378,347 (GRCm39)	T161M	possibly damaging	Het
Vmn1r51	A	T	6: 90,106,207 (GRCm39)	H41L	probably benign	Het
Wdfy3	A	T	5: 102,003,415 (GRCm39)	I2900N	probably damaging	Het
Zfp663	A	G	2: 165,195,023 (GRCm39)	S399P	probably benign	Het
Zfp692	T	C	11: 58,200,268 (GRCm39)		probably null	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
IGL03139:Saxo1	APN	4	86,405,999 (GRCm39)	missense	possibly damaging	0.49
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
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

Predicted Primers

PCR Primer
(F):5'- CTTCCTCGAAGATATAGCCCGG -3'
(R):5'- GGATCTTCTGACAACTGTGCAG -3'

Sequencing Primer
(F):5'- CCGGAGGCTCCATGTATGATG -3'
(R):5'- TGTGCAGACCCATTACAAGTAC -3'

Posted On

2019-05-13