Mutagenetix > Incidental Mutation

Incidental Mutation 'R9241:Saxo2'

700742

Institutional Source

Beutler Lab

Gene Symbol

Saxo2

Ensembl Gene

ENSMUSG00000038570

Gene Name

stabilizer of axonemal microtubules 2

Synonyms

Fam154b, 1700129I04Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9241 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82282168-82297736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82284250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 203 (T203A)

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: T203A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057993
Gene: ENSMUSG00000038570
AA Change: T203A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207693

Meta Mutation Damage Score

0.1067

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,937 (GRCm39)	L390P	probably damaging	Het
AL732309.1	T	A	2: 25,135,919 (GRCm39)	E98D	possibly damaging	Het
Aldh2	T	C	5: 121,710,220 (GRCm39)	I372V	probably benign	Het
Amph	G	T	13: 19,278,972 (GRCm39)	R149L	probably damaging	Het
Ano6	T	C	15: 95,688,887 (GRCm39)	V8A	probably benign	Het
Aox4	T	A	1: 58,291,345 (GRCm39)	V821E	probably damaging	Het
Baz2b	T	A	2: 59,743,993 (GRCm39)	Q1504L	probably benign	Het
Cdcp1	C	A	9: 123,014,301 (GRCm39)	G158W	probably damaging	Het
Cryge	T	G	1: 65,088,018 (GRCm39)	D97A	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Dyrk1b	A	G	7: 27,886,058 (GRCm39)	T594A	probably benign	Het
Emilin3	T	C	2: 160,750,177 (GRCm39)	D477G	possibly damaging	Het
Fat2	T	C	11: 55,147,566 (GRCm39)	H3892R	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gm9922	A	T	14: 101,967,220 (GRCm39)	S11T	unknown	Het
Hcfc2	T	C	10: 82,568,485 (GRCm39)	V43A	probably benign	Het
Hcn1	T	C	13: 117,793,249 (GRCm39)	F167S	probably benign	Het
Jag1	T	C	2: 136,926,507 (GRCm39)	I1012M	probably damaging	Het
Kash5	A	G	7: 44,833,313 (GRCm39)	I603T	probably benign	Het
Lepr	G	T	4: 101,671,788 (GRCm39)	M937I	probably benign	Het
Macf1	T	C	4: 123,271,952 (GRCm39)	D6532G	probably damaging	Het
Mapk13	A	T	17: 28,990,187 (GRCm39)	D102V	probably damaging	Het
Mapt	A	T	11: 104,189,797 (GRCm39)	T272S	probably benign	Het
Mfap3	A	G	11: 57,420,672 (GRCm39)	T218A	probably damaging	Het
Mki67	A	T	7: 135,297,653 (GRCm39)	H2460Q	possibly damaging	Het
Nalcn	G	T	14: 123,809,429 (GRCm39)	P241Q	probably benign	Het
Nup50	A	G	15: 84,822,611 (GRCm39)	T378A	possibly damaging	Het
Oprl1	C	T	2: 181,360,405 (GRCm39)	R154C	probably damaging	Het
Or2n1e	A	G	17: 38,585,781 (GRCm39)	M40V	probably benign	Het
Pcdha8	C	T	18: 37,127,008 (GRCm39)	R497W	probably damaging	Het
Pik3c2a	A	G	7: 116,017,115 (GRCm39)	V214A	probably benign	Het
Plekha5	T	C	6: 140,525,204 (GRCm39)		probably null	Het
Pole3	A	G	4: 62,442,845 (GRCm39)		probably benign	Het
Prkn	A	T	17: 11,456,382 (GRCm39)	I69L	probably benign	Het
Psd3	G	T	8: 68,415,967 (GRCm39)	N357K	probably benign	Het
Psme4	A	T	11: 30,815,576 (GRCm39)	D1696V	probably damaging	Het
Reln	C	T	5: 22,174,067 (GRCm39)	R2012Q	probably damaging	Het
Scgb1a1	T	C	19: 9,065,293 (GRCm39)		probably benign	Het
Selplg	T	A	5: 113,957,647 (GRCm39)	N220Y	possibly damaging	Het
Septin9	C	A	11: 117,109,724 (GRCm39)	R15S	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smarca4	T	G	9: 21,550,604 (GRCm39)	S446A	possibly damaging	Het
Smc1b	T	C	15: 84,976,209 (GRCm39)	N833D	probably benign	Het
Son	T	A	16: 91,454,122 (GRCm39)	D956E	probably damaging	Het
Sorl1	A	T	9: 41,885,420 (GRCm39)	Y2060*	probably null	Het
Tesmin	T	C	19: 3,439,010 (GRCm39)	F21L	probably benign	Het
Tmem200c	G	T	17: 69,144,161 (GRCm39)		probably benign	Het
Tnk2	A	C	16: 32,488,916 (GRCm39)	D252A	probably damaging	Het
Tpcn1	C	T	5: 120,691,558 (GRCm39)	V299I	probably benign	Het
Trpv1	A	G	11: 73,151,182 (GRCm39)	N790S	probably benign	Het
Zfhx4	C	T	3: 5,308,697 (GRCm39)	T641I	probably damaging	Het
Zfp563	A	T	17: 33,321,520 (GRCm39)	Q45L	probably benign	Het
Zswim9	A	T	7: 13,003,360 (GRCm39)	D163E	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
R5784:Saxo2	UTSW	7	82,284,082 (GRCm39)	missense	probably benign	0.01
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
R9682:Saxo2	UTSW	7	82,292,881 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TCTAATGGCAACTACGCGGC -3'
(R):5'- TTTAAGCCCTGCTCTGTGG -3'

Sequencing Primer
(F):5'- CTGGCCTGATAGGGAACATAGTC -3'
(R):5'- ATGGTGATACAAGTCATCGTCG -3'

Posted On

2022-02-07