Mutagenetix > Incidental Mutation

Incidental Mutation 'R5784:Saxo2'

447916

Institutional Source

Beutler Lab

Gene Symbol

Saxo2

Ensembl Gene

ENSMUSG00000038570

Gene Name

stabilizer of axonemal microtubules 2

Synonyms

Fam154b, 1700129I04Rik

MMRRC Submission

043381-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5784 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82282168-82297736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82284082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 259 (V259I)

Ref Sequence

ENSEMBL: ENSMUSP00000057993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056728] [ENSMUST00000207693]

AlphaFold

Q8BQB6

Predicted Effect

probably benign
Transcript: ENSMUST00000056728
AA Change: V259I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000057993
Gene: ENSMUSG00000038570
AA Change: V259I

Domain	Start	End	E-Value	Type
Pfam:STOP	4	201	3.6e-42	PFAM
Pfam:STOP	237	390	4.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156720

Predicted Effect

probably benign
Transcript: ENSMUST00000207693

Meta Mutation Damage Score

0.1500

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,441 (GRCm39)	R292G	possibly damaging	Het
4932416K20Rik	T	A	8: 105,524,261 (GRCm39)		noncoding transcript	Het
Aox3	A	G	1: 58,192,658 (GRCm39)	D544G	probably benign	Het
Atg2a	C	A	19: 6,311,535 (GRCm39)	A1830D	probably damaging	Het
Casp1	T	C	9: 5,299,337 (GRCm39)	I22T	probably damaging	Het
Ccdc141	A	C	2: 76,859,671 (GRCm39)	L990W	probably damaging	Het
Cnbd2	A	G	2: 156,180,577 (GRCm39)	T125A	probably damaging	Het
Cnep1r1	T	A	8: 88,857,354 (GRCm39)		probably benign	Het
Dhx38	G	T	8: 110,286,245 (GRCm39)	Y348*	probably null	Het
Dnah7c	A	T	1: 46,563,228 (GRCm39)	I593L	possibly damaging	Het
Dpep3	T	C	8: 106,705,375 (GRCm39)	D125G	probably benign	Het
Eif1ad10	T	A	12: 88,216,525 (GRCm39)	N116Y	probably damaging	Het
Epb41l4b	A	C	4: 57,086,003 (GRCm39)	S191A	probably damaging	Het
Etl4	A	G	2: 20,811,016 (GRCm39)	Y1033C	possibly damaging	Het
Fam193a	T	C	5: 34,623,567 (GRCm39)	L32P	probably damaging	Het
Grin2c	T	C	11: 115,149,121 (GRCm39)	E159G	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hdhd2	A	T	18: 77,054,841 (GRCm39)	D205V	probably damaging	Het
Helz	T	A	11: 107,561,307 (GRCm39)	N774K	unknown	Het
Idh3b	A	G	2: 130,121,591 (GRCm39)	V71A	probably damaging	Het
Lars1	T	C	18: 42,352,964 (GRCm39)	M818V	probably benign	Het
Ltbp2	A	G	12: 84,915,513 (GRCm39)	V162A	probably damaging	Het
Ltk	G	A	2: 119,584,840 (GRCm39)	Q136*	probably null	Het
Mafb	A	T	2: 160,208,461 (GRCm39)	C46S	probably damaging	Het
Map1s	T	C	8: 71,367,002 (GRCm39)	S636P	probably damaging	Het
Map3k13	A	G	16: 21,717,391 (GRCm39)	K209E	possibly damaging	Het
Mppe1	T	C	18: 67,361,098 (GRCm39)	N220D	probably benign	Het
Mydgf	T	C	17: 56,485,254 (GRCm39)		probably benign	Het
Myh6	T	C	14: 55,190,521 (GRCm39)	K999E	possibly damaging	Het
Nemp1	T	A	10: 127,513,067 (GRCm39)	V34D	possibly damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm39)	E206G	probably benign	Het
Or10x4	G	A	1: 174,218,965 (GRCm39)	C110Y	probably damaging	Het
Or13g1	T	C	7: 85,955,743 (GRCm39)	N193D	probably damaging	Het
Or9q2	A	T	19: 13,772,710 (GRCm39)	H88Q	probably benign	Het
Papln	A	G	12: 83,828,754 (GRCm39)	N820S	probably benign	Het
Pcdh10	T	G	3: 45,335,075 (GRCm39)	F463C	probably damaging	Het
Pde7a	A	G	3: 19,319,009 (GRCm39)	V12A	probably benign	Het
Radil	G	T	5: 142,473,268 (GRCm39)	H804Q	possibly damaging	Het
Rbfox1	A	T	16: 7,042,203 (GRCm39)	D39V	probably damaging	Het
Rims2	T	G	15: 39,399,383 (GRCm39)		probably null	Het
Rnf121	A	G	7: 101,684,583 (GRCm39)	F110S	probably benign	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc2a3	A	T	6: 122,712,376 (GRCm39)		probably null	Het
Traf2	A	T	2: 25,429,049 (GRCm39)	V6E	probably benign	Het
Trim43c	A	T	9: 88,729,696 (GRCm39)	N379I	probably benign	Het
Ubr4	C	G	4: 139,152,529 (GRCm39)	C1973W	probably damaging	Het
Unc13a	G	T	8: 72,108,310 (GRCm39)	D514E	possibly damaging	Het
Wdr27	T	A	17: 15,146,495 (GRCm39)	T167S	probably damaging	Het
Zfp174	A	T	16: 3,672,438 (GRCm39)	E329V	probably benign	Het
Zfp422	A	T	6: 116,603,771 (GRCm39)	I76N	probably damaging	Het

Other mutations in Saxo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Saxo2	APN	7	82,297,613 (GRCm39)	missense	probably benign	0.43
IGL01992:Saxo2	APN	7	82,284,108 (GRCm39)	missense	probably damaging	0.97
R0973:Saxo2	UTSW	7	82,284,078 (GRCm39)	missense	probably benign	0.00
R0973:Saxo2	UTSW	7	82,284,078 (GRCm39)	missense	probably benign	0.00
R0974:Saxo2	UTSW	7	82,284,078 (GRCm39)	missense	probably benign	0.00
R1169:Saxo2	UTSW	7	82,284,379 (GRCm39)	missense	possibly damaging	0.77
R3113:Saxo2	UTSW	7	82,292,949 (GRCm39)	missense	probably benign	0.05
R4912:Saxo2	UTSW	7	82,283,743 (GRCm39)	missense	probably benign	0.00
R5406:Saxo2	UTSW	7	82,284,586 (GRCm39)	missense	probably benign
R6344:Saxo2	UTSW	7	82,284,073 (GRCm39)	missense	probably damaging	0.96
R6677:Saxo2	UTSW	7	82,284,484 (GRCm39)	missense	probably benign	0.01
R6806:Saxo2	UTSW	7	82,284,240 (GRCm39)	missense	probably benign	0.00
R6912:Saxo2	UTSW	7	82,284,402 (GRCm39)	missense	possibly damaging	0.89
R6968:Saxo2	UTSW	7	82,292,969 (GRCm39)	missense	probably damaging	0.99
R7621:Saxo2	UTSW	7	82,297,625 (GRCm39)	missense	possibly damaging	0.67
R7655:Saxo2	UTSW	7	82,284,559 (GRCm39)	missense	probably damaging	1.00
R7656:Saxo2	UTSW	7	82,284,559 (GRCm39)	missense	probably damaging	1.00
R9108:Saxo2	UTSW	7	82,284,082 (GRCm39)	missense	probably benign	0.01
R9241:Saxo2	UTSW	7	82,284,250 (GRCm39)	missense	probably benign	0.00
R9682:Saxo2	UTSW	7	82,292,881 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AAGTGAGATCTGAAAGTGCTCAAAC -3'
(R):5'- CAGGGTCTTGCTGGTGAAAC -3'

Sequencing Primer
(F):5'- ACCCTCAAATTTTCCAGATGGG -3'
(R):5'- CTGGTGAAACTGCAAAAATCTGC -3'

Posted On

2016-12-15