Mutagenetix > Incidental Mutation

Incidental Mutation 'R4441:Saxo5'

329770

Institutional Source

Beutler Lab

Gene Symbol

Saxo5

Ensembl Gene

ENSMUSG00000040340

Gene Name

stabilizer of axonemal microtubules 5

Synonyms

1700019B03Rik, Tex45

MMRRC Submission

041706-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3520862-3537181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3526105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 86 (S86L)

Ref Sequence

ENSEMBL: ENSMUSP00000123746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047265] [ENSMUST00000159076] [ENSMUST00000161680]

AlphaFold

G3XA23

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047265
AA Change: S86L

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000043586
Gene: ENSMUSG00000040340
AA Change: S86L

Domain	Start	End	E-Value	Type
Pfam:DUF4601	58	499	7.4e-238	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159076
AA Change: S86L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123746
Gene: ENSMUSG00000040340
AA Change: S86L

Domain	Start	End	E-Value	Type
Pfam:DUF4601	58	339	1.3e-144	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161680
AA Change: S86L

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124916
Gene: ENSMUSG00000040340
AA Change: S86L

Domain	Start	End	E-Value	Type
Pfam:DUF4601	58	499	3e-231	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,127,024 (GRCm39)	R1238S	probably benign	Het
Ankmy1	A	T	1: 92,816,383 (GRCm39)	Y244N	possibly damaging	Het
Asxl3	C	T	18: 22,657,290 (GRCm39)	P1767S	probably damaging	Het
C1qtnf7	A	T	5: 43,766,612 (GRCm39)	K70N	possibly damaging	Het
Cibar1	A	G	4: 12,157,733 (GRCm39)	M261T	probably damaging	Het
Fam78b	C	A	1: 166,906,491 (GRCm39)	Q217K	probably damaging	Het
Garem1	T	C	18: 21,301,807 (GRCm39)	T127A	possibly damaging	Het
Gls	A	T	1: 52,235,322 (GRCm39)		probably null	Het
Gm12790	A	C	4: 101,825,337 (GRCm39)	S26A	probably damaging	Het
Gm136	T	C	4: 34,755,911 (GRCm39)	D34G	probably benign	Het
Gmds	A	G	13: 32,124,461 (GRCm39)		probably null	Het
Hdac9	G	T	12: 34,439,375 (GRCm39)	H401N	probably damaging	Het
Hmcn1	T	C	1: 150,533,210 (GRCm39)	I3026V	probably null	Het
Igkv6-20	A	T	6: 70,313,101 (GRCm39)	M24K	probably damaging	Het
Ilf2	T	C	3: 90,394,769 (GRCm39)	L339P	probably benign	Het
Insr	T	A	8: 3,244,902 (GRCm39)	K501N	probably benign	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mcm5	T	C	8: 75,839,172 (GRCm39)	S142P	probably benign	Het
Mcpt9	A	G	14: 56,265,009 (GRCm39)	V164A	probably damaging	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Nfia	T	C	4: 97,661,150 (GRCm39)		probably null	Het
Nipbl	G	C	15: 8,396,142 (GRCm39)	Q144E	probably damaging	Het
Or51g1	A	T	7: 102,633,516 (GRCm39)	V285E	possibly damaging	Het
Or51q1c	T	G	7: 103,653,279 (GRCm39)	F266V	probably damaging	Het
Or6z5	T	C	7: 6,477,924 (GRCm39)	S272P	probably benign	Het
Pcdhgb8	A	G	18: 37,896,114 (GRCm39)	I395V	possibly damaging	Het
Plcz1	T	A	6: 139,936,413 (GRCm39)	L605F	probably benign	Het
Prph	G	A	15: 98,955,005 (GRCm39)	S325N	probably damaging	Het
Ptpn23	A	G	9: 110,221,793 (GRCm39)	M131T	probably benign	Het
Rab3ip	T	G	10: 116,751,837 (GRCm39)	D278A	probably benign	Het
Rasgrf2	T	C	13: 92,131,797 (GRCm39)	D620G	possibly damaging	Het
Rbm5	A	G	9: 107,626,887 (GRCm39)		probably benign	Het
Rc3h2	A	G	2: 37,304,526 (GRCm39)		probably null	Het
Tbxa2r	T	C	10: 81,168,925 (GRCm39)	S205P	probably damaging	Het
Tenm4	A	G	7: 96,545,022 (GRCm39)	N2375S	probably benign	Het
Tespa1	C	T	10: 130,197,826 (GRCm39)	R283C	probably damaging	Het
Tle2	A	G	10: 81,417,516 (GRCm39)	E227G	possibly damaging	Het
Tnik	A	G	3: 28,618,246 (GRCm39)	I266V	possibly damaging	Het
Tnn	T	G	1: 159,943,650 (GRCm39)	E1054D	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm1	A	G	7: 63,851,666 (GRCm39)	D12G	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Wdr7	T	A	18: 63,888,281 (GRCm39)	Y585N	probably damaging	Het
Zgrf1	T	A	3: 127,379,786 (GRCm39)	N223K	possibly damaging	Het

Other mutations in Saxo5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02418:Saxo5	APN	8	3,526,080 (GRCm39)	missense	probably damaging	0.98
IGL02717:Saxo5	APN	8	3,536,970 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Saxo5	UTSW	8	3,526,062 (GRCm39)	missense	possibly damaging	0.75
R1842:Saxo5	UTSW	8	3,533,668 (GRCm39)	missense	possibly damaging	0.92
R1928:Saxo5	UTSW	8	3,536,947 (GRCm39)	missense	possibly damaging	0.93
R2202:Saxo5	UTSW	8	3,529,028 (GRCm39)	missense	probably benign	0.01
R2224:Saxo5	UTSW	8	3,529,249 (GRCm39)	missense	probably benign	0.11
R2227:Saxo5	UTSW	8	3,529,249 (GRCm39)	missense	probably benign	0.11
R4162:Saxo5	UTSW	8	3,529,067 (GRCm39)	missense	probably damaging	1.00
R4413:Saxo5	UTSW	8	3,533,529 (GRCm39)	missense	probably damaging	0.99
R4807:Saxo5	UTSW	8	3,529,004 (GRCm39)	missense	possibly damaging	0.95
R4869:Saxo5	UTSW	8	3,537,148 (GRCm39)	missense	probably damaging	0.98
R5753:Saxo5	UTSW	8	3,534,112 (GRCm39)	missense	probably benign
R6457:Saxo5	UTSW	8	3,529,268 (GRCm39)	missense	probably damaging	1.00
R7007:Saxo5	UTSW	8	3,526,309 (GRCm39)	missense	probably damaging	1.00
R7186:Saxo5	UTSW	8	3,529,049 (GRCm39)	missense	probably damaging	1.00
R7386:Saxo5	UTSW	8	3,537,079 (GRCm39)	missense	probably benign
R7609:Saxo5	UTSW	8	3,526,057 (GRCm39)	missense	probably benign	0.02
R7738:Saxo5	UTSW	8	3,533,525 (GRCm39)	missense	probably damaging	1.00
R9000:Saxo5	UTSW	8	3,526,083 (GRCm39)	missense	possibly damaging	0.93
R9169:Saxo5	UTSW	8	3,525,967 (GRCm39)	missense	possibly damaging	0.94
R9473:Saxo5	UTSW	8	3,529,232 (GRCm39)	missense	probably benign	0.03
R9732:Saxo5	UTSW	8	3,526,167 (GRCm39)	missense	possibly damaging	0.85
Z1177:Saxo5	UTSW	8	3,526,213 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- AGGCCTCACACTTTTCTTTGGG -3'
(R):5'- TTGAATCCCGGTCAAAGAGGAG -3'

Sequencing Primer
(F):5'- GCTGCATGATGGCACTATGC -3'
(R):5'- AAGAGGAGGCGTGCGCTTC -3'

Posted On

2015-07-21