Mutagenetix > Incidental Mutation

Incidental Mutation 'R7621:Saxo2'

589143

Institutional Source

Beutler Lab

Gene Symbol

Saxo2

Ensembl Gene

ENSMUSG00000038570

Gene Name

stabilizer of axonemal microtubules 2

Synonyms

Fam154b, 1700129I04Rik

MMRRC Submission

045688-MU

Accession Numbers

Essential gene?

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

Stock #

R7621 (G1)

Quality Score

144.008

Status

Validated

Chromosome

Chromosomal Location

82282168-82297736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82297625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 5 (C5S)

Ref Sequence

ENSEMBL: ENSMUSP00000057993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039881] [ENSMUST00000056728] [ENSMUST00000126478] [ENSMUST00000141726] [ENSMUST00000179489] [ENSMUST00000207693] [ENSMUST00000207868]

AlphaFold

Q8BQB6

Predicted Effect

probably benign
Transcript: ENSMUST00000039881

SMART Domains

Protein: ENSMUSP00000046046
Gene: ENSMUSG00000038563

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	17	365	7.4e-62	PFAM
low complexity region	435	451	N/A	INTRINSIC
Pfam:EFG_II	614	687	4.3e-9	PFAM
EFG_C	986	1075	1.03e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056728
AA Change: C5S

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000057993
Gene: ENSMUSG00000038570
AA Change: C5S

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: ENSMUST00000126478

Predicted Effect

probably benign
Transcript: ENSMUST00000141726

SMART Domains

Protein: ENSMUSP00000121909
Gene: ENSMUSG00000038563

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	17	222	2.3e-57	PFAM
Pfam:MMR_HSR1	21	147	2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179489

SMART Domains

Protein: ENSMUSP00000137061
Gene: ENSMUSG00000038563

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	17	364	8.7e-58	PFAM
low complexity region	435	451	N/A	INTRINSIC
Pfam:GTP_EFTU_D2	504	599	1e-7	PFAM
Pfam:EFG_II	614	687	1.8e-9	PFAM
EFG_C	986	1075	1.03e-12	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000207693
AA Change: C5S

Predicted Effect

probably benign
Transcript: ENSMUST00000207868

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,051,359 (GRCm39)	K112N	probably benign	Het
Brwd1	A	G	16: 95,866,087 (GRCm39)	S232P	probably damaging	Het
Calm5	A	T	13: 3,904,629 (GRCm39)	M108L	possibly damaging	Het
Ces1g	A	T	8: 94,055,094 (GRCm39)	V201D	probably damaging	Het
Cltc	C	A	11: 86,598,312 (GRCm39)	V1017L	probably benign	Het
Cpt1c	C	T	7: 44,616,516 (GRCm39)	R245Q	probably damaging	Het
Csrnp1	C	A	9: 119,806,158 (GRCm39)	A39S	probably benign	Het
Elf1	A	G	14: 79,808,322 (GRCm39)	D258G	possibly damaging	Het
Entrep1	A	C	19: 23,972,168 (GRCm39)	S179A	possibly damaging	Het
Glipr1l1	A	T	10: 111,896,300 (GRCm39)	D29V	probably benign	Het
Gm4340	T	C	10: 104,031,820 (GRCm39)	V188A	probably benign	Het
Gsdma2	T	C	11: 98,540,375 (GRCm39)	M98T	probably benign	Het
Hars1	A	T	18: 36,903,476 (GRCm39)	D315E	probably benign	Het
Hsph1	A	C	5: 149,555,540 (GRCm39)	Y89D	probably damaging	Het
Ighv11-2	T	A	12: 114,012,008 (GRCm39)	D69V	probably benign	Het
Kirrel1	C	T	3: 86,995,528 (GRCm39)	G438D	possibly damaging	Het
Krt6a	G	T	15: 101,600,187 (GRCm39)	T355K	possibly damaging	Het
Lce1m	T	C	3: 92,925,177 (GRCm39)		probably null	Het
Lmbrd1	A	T	1: 24,767,625 (GRCm39)		probably null	Het
Lmtk3	A	G	7: 45,442,841 (GRCm39)	E508G	probably damaging	Het
Lrrc2	G	A	9: 110,809,899 (GRCm39)	V312I	probably benign	Het
Lyn	A	T	4: 3,789,834 (GRCm39)	K477*	probably null	Het
Nfe2l2	T	C	2: 75,509,757 (GRCm39)	D21G	probably damaging	Het
Or14c45	G	A	7: 86,176,280 (GRCm39)	C105Y	probably benign	Het
Or4f14d	T	C	2: 111,960,926 (GRCm39)	T77A	probably benign	Het
Or55b3	G	A	7: 102,126,472 (GRCm39)	R202C	possibly damaging	Het
Or8c15	T	C	9: 38,120,447 (GRCm39)	F31L	probably benign	Het
Pgap6	C	A	17: 26,336,865 (GRCm39)	P261Q	probably benign	Het
Pkm	T	A	9: 59,585,441 (GRCm39)	C474*	probably null	Het
Prr36	T	A	8: 4,263,150 (GRCm39)	I839F	unknown	Het
Qtrt2	A	G	16: 43,689,303 (GRCm39)		probably null	Het
Ripk4	A	T	16: 97,547,125 (GRCm39)	V379E	probably damaging	Het
Rreb1	C	A	13: 38,133,042 (GRCm39)	P304Q		Het
Scart2	G	A	7: 139,876,742 (GRCm39)	G711D	probably damaging	Het
Sema5a	C	A	15: 32,609,378 (GRCm39)	T428N	possibly damaging	Het
Setd5	C	A	6: 113,121,010 (GRCm39)	P1073Q	possibly damaging	Het
Sh2d5	T	G	4: 137,984,150 (GRCm39)	C173G	probably benign	Het
Slc4a10	T	G	2: 62,080,823 (GRCm39)	V350G	probably damaging	Het
Slco1a6	A	G	6: 142,106,743 (GRCm39)	C15R	probably damaging	Het
Smg7	A	T	1: 152,717,295 (GRCm39)	F940Y	possibly damaging	Het
Spata17	T	A	1: 186,854,833 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,210 (GRCm39)	N603S	possibly damaging	Het
Tbc1d1	A	G	5: 64,421,673 (GRCm39)	D355G	probably damaging	Het
Thbs2	T	C	17: 14,894,426 (GRCm39)	D807G	probably benign	Het
Usp53	T	C	3: 122,754,934 (GRCm39)	T174A	probably benign	Het
Vmn2r52	A	G	7: 9,907,274 (GRCm39)	Y151H	probably benign	Het
Wdr12	G	A	1: 60,136,748 (GRCm39)		probably benign	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
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'- AGTTTTGCCCAGGAGCTAG -3'
(R):5'- TAAGACTCCAGGGGTAGCTC -3'

Sequencing Primer
(F):5'- TTTGCCCAGGAGCTAGCCAAG -3'
(R):5'- GGTAGCTCAGACCGGAAGTC -3'

Posted On

2019-10-24