Mutagenetix > Incidental Mutation

Incidental Mutation 'R5406:Saxo2'

426277

Institutional Source

Beutler Lab

Gene Symbol

Saxo2

Ensembl Gene

ENSMUSG00000038570

Gene Name

stabilizer of axonemal microtubules 2

Synonyms

Fam154b, 1700129I04Rik

MMRRC Submission

042976-MU

Accession Numbers

Essential gene?

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

Stock #

R5406 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82282168-82297736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82284586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 91 (C91S)

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: C91S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057993
Gene: ENSMUSG00000038570
AA Change: C91S

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,387 (GRCm39)	V17D	probably damaging	Het
Abcb1a	C	A	5: 8,752,946 (GRCm39)	Q566K	probably damaging	Het
Adam26a	A	T	8: 44,022,141 (GRCm39)	C450S	probably damaging	Het
Adar	C	T	3: 89,643,418 (GRCm39)	P433L	probably damaging	Het
Aldh1a2	G	T	9: 71,162,403 (GRCm39)	A151S	possibly damaging	Het
Arsk	T	A	13: 76,242,066 (GRCm39)	H69L	probably benign	Het
Atf6b	T	A	17: 34,872,771 (GRCm39)	Y600*	probably null	Het
Blk	C	A	14: 63,618,180 (GRCm39)	G242V	probably damaging	Het
Bmt2	A	T	6: 13,677,831 (GRCm39)	M1K	probably null	Het
Catsperg1	G	A	7: 28,884,948 (GRCm39)	T891M	probably damaging	Het
Ccdc32	A	C	2: 118,852,560 (GRCm39)	S131A	possibly damaging	Het
Cdh8	A	G	8: 99,923,002 (GRCm39)	V298A	probably damaging	Het
Cfap54	T	A	10: 92,837,720 (GRCm39)	Q1060L	probably benign	Het
Cfap58	G	A	19: 48,017,541 (GRCm39)	M800I	possibly damaging	Het
Cntn5	A	T	9: 9,833,465 (GRCm39)	V362D	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
G2e3	T	C	12: 51,419,449 (GRCm39)	S699P	probably damaging	Het
Gbp4	G	T	5: 105,267,387 (GRCm39)	Q511K	possibly damaging	Het
Gdap2	T	A	3: 100,098,991 (GRCm39)	I361N	probably damaging	Het
Ino80c	T	A	18: 24,245,819 (GRCm39)	H92L	probably benign	Het
Lipo4	A	G	19: 33,480,618 (GRCm39)	V250A	probably benign	Het
Llgl1	C	T	11: 60,604,010 (GRCm39)	R1055W	probably damaging	Het
Lrriq3	T	C	3: 154,835,138 (GRCm39)		probably null	Het
Mmp1a	A	G	9: 7,467,294 (GRCm39)	E290G	probably damaging	Het
Ncstn	A	G	1: 171,899,731 (GRCm39)	V317A	probably benign	Het
Nfxl1	G	A	5: 72,713,541 (GRCm39)	T134I	possibly damaging	Het
Nup155	A	T	15: 8,183,122 (GRCm39)		probably null	Het
Nup214	C	A	2: 31,892,619 (GRCm39)	P680T	probably damaging	Het
Or6c212	G	A	10: 129,558,799 (GRCm39)	L205F	probably damaging	Het
Or7h8	A	G	9: 20,124,454 (GRCm39)	K270E	probably benign	Het
Or8b12	A	G	9: 37,657,943 (GRCm39)	N171S	probably benign	Het
Or8b9	G	A	9: 37,766,515 (GRCm39)	V134I	probably benign	Het
Pkd2	T	C	5: 104,628,198 (GRCm39)	F424S	probably damaging	Het
Plb1	A	G	5: 32,499,259 (GRCm39)	D1074G	probably damaging	Het
Ppm1l	T	C	3: 69,224,927 (GRCm39)	S10P	possibly damaging	Het
Rnf213	A	G	11: 119,331,634 (GRCm39)	H2281R	probably damaging	Het
Rpa2	G	T	4: 132,503,559 (GRCm39)	A3S	probably benign	Het
Sardh	A	G	2: 27,101,096 (GRCm39)	V698A	possibly damaging	Het
Slc3a2	T	C	19: 8,685,406 (GRCm39)	D198G	probably damaging	Het
Spata31d1d	T	A	13: 59,876,592 (GRCm39)	E314D	probably benign	Het
Sptlc3	T	C	2: 139,388,398 (GRCm39)	V130A	probably benign	Het
Stpg3	C	A	2: 25,103,580 (GRCm39)	E115*	probably null	Het
Tbcd	T	A	11: 121,342,927 (GRCm39)	D19E	probably benign	Het
Xrcc3	T	C	12: 111,778,545 (GRCm39)	D2G	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
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
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'- ATCTCGACGATGACTTGTATCACC -3'
(R):5'- GCACACATGTTCCATATGCCC -3'

Sequencing Primer
(F):5'- GACTTGTATCACCATTAAAAGGGCC -3'
(R):5'- CCATATGCCCTTGTATGTAATCAG -3'

Posted On

2016-09-01