Mutagenetix > Incidental Mutation

Incidental Mutation 'R6968:Saxo2'

542108

Institutional Source

Beutler Lab

Gene Symbol

Saxo2

Ensembl Gene

ENSMUSG00000038570

Gene Name

stabilizer of axonemal microtubules 2

Synonyms

Fam154b, 1700129I04Rik

MMRRC Submission

045078-MU

Accession Numbers

Essential gene?

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

Stock #

R6968 (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 82292969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 43 (T43A)

Ref Sequence

ENSEMBL: ENSMUSP00000057993 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000056728
AA Change: T43A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057993
Gene: ENSMUSG00000038570
AA Change: T43A

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

probably benign
Transcript: ENSMUST00000207693

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	T	2: 102,919,798 (GRCm39)	L125F	possibly damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Arhgef5	T	C	6: 43,252,276 (GRCm39)	V1009A	probably benign	Het
Asah2	A	T	19: 31,989,913 (GRCm39)	I489K	probably benign	Het
Bace1	A	G	9: 45,766,263 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Ccdc162	T	C	10: 41,549,840 (GRCm39)	T348A	possibly damaging	Het
Cdkn2aip	C	A	8: 48,166,922 (GRCm39)		probably benign	Het
Cep78	A	C	19: 15,959,102 (GRCm39)	F111V	probably benign	Het
Chd4	T	A	6: 125,085,281 (GRCm39)	L784Q	probably damaging	Het
Chrna6	C	T	8: 27,896,683 (GRCm39)	C398Y	probably benign	Het
Cmip	T	C	8: 118,103,895 (GRCm39)	Y128H	probably damaging	Het
Cpne2	C	T	8: 95,275,130 (GRCm39)	P46L	probably damaging	Het
Cyp2w1	A	G	5: 139,339,746 (GRCm39)	Q112R	probably damaging	Het
Entpd3	A	T	9: 120,389,722 (GRCm39)	E336V	probably benign	Het
Fbxw28	A	C	9: 109,159,856 (GRCm39)	S197A	probably benign	Het
Foxk2	T	C	11: 121,151,308 (GRCm39)	F118L	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hinfp	A	C	9: 44,209,282 (GRCm39)	S306A	probably benign	Het
Hspg2	T	A	4: 137,262,467 (GRCm39)	V1663E	probably damaging	Het
Inpp4b	T	C	8: 82,571,086 (GRCm39)	I125T	probably benign	Het
Jag2	C	T	12: 112,877,878 (GRCm39)	E592K	probably benign	Het
Krt23	T	A	11: 99,371,900 (GRCm39)	E317V	probably damaging	Het
Ltbp2	C	T	12: 84,835,857 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,934,586 (GRCm39)	N152K	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mier2	G	A	10: 79,376,476 (GRCm39)		probably benign	Het
Mmp9	A	G	2: 164,794,860 (GRCm39)	T584A	probably benign	Het
Necab1	T	C	4: 14,957,852 (GRCm39)	E335G	probably damaging	Het
Nlrp9b	T	A	7: 19,783,433 (GRCm39)	N925K	probably damaging	Het
Nr4a2	T	C	2: 56,998,758 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,329,499 (GRCm39)	I239V	probably benign	Het
Nsun2	A	G	13: 69,779,409 (GRCm39)	D562G	probably benign	Het
Odad2	T	C	18: 7,273,155 (GRCm39)		probably null	Het
Or1e31	A	G	11: 73,690,205 (GRCm39)	I126T	possibly damaging	Het
Ormdl3	T	A	11: 98,474,941 (GRCm39)	M1L	probably benign	Het
Pcdh10	T	A	3: 45,333,977 (GRCm39)	V97D	probably damaging	Het
Pde3a	T	C	6: 141,433,658 (GRCm39)	F847L	probably damaging	Het
Ppp1r13b	C	A	12: 111,799,612 (GRCm39)	V722F	possibly damaging	Het
Rhoh	A	G	5: 66,049,862 (GRCm39)	D44G	possibly damaging	Het
Riox1	C	T	12: 83,998,147 (GRCm39)	R228C	probably damaging	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Sema3f	C	T	9: 107,568,648 (GRCm39)		probably null	Het
Snap25	T	C	2: 136,611,690 (GRCm39)	M64T	probably benign	Het
Spef2	T	C	15: 9,597,426 (GRCm39)	N1410S	probably benign	Het
Sstr2	T	C	11: 113,515,774 (GRCm39)	I231T	probably damaging	Het
Stam	A	T	2: 14,120,829 (GRCm39)	H78L	probably damaging	Het
Suox	C	T	10: 128,507,702 (GRCm39)	V109I	possibly damaging	Het
Syne1	T	C	10: 5,067,041 (GRCm39)	R7075G	probably benign	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tln1	C	T	4: 43,550,217 (GRCm39)	R482Q	probably benign	Het
Tnrc6a	T	C	7: 122,781,650 (GRCm39)	V1440A	probably benign	Het
Togaram2	A	G	17: 72,016,608 (GRCm39)	D655G	probably damaging	Het
Trgv2	A	T	13: 19,520,896 (GRCm39)	I66K	probably damaging	Het
Vmn1r113	A	T	7: 20,521,876 (GRCm39)	I223F	probably damaging	Het
Vmn2r62	T	A	7: 42,437,866 (GRCm39)	H206L	probably benign	Het
Zan	T	A	5: 137,460,075 (GRCm39)	Y1272F	unknown	Het
Zfp39	T	C	11: 58,782,306 (GRCm39)	H152R	probably benign	Het
Zfp41	T	A	15: 75,490,310 (GRCm39)	Y87*	probably null	Het
Zfp933	A	T	4: 147,910,654 (GRCm39)	L314H	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
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'- AACCACTGTGGCTAAGTATGAC -3'
(R):5'- GGCTTTTGGAAAAGTGACTACAAAGC -3'

Sequencing Primer
(F):5'- CCACTGTGGCTAAGTATGACAATAC -3'
(R):5'- TCACTTAAGATCAAATTGAAGAGCTG -3'

Posted On

2018-11-28