Mutagenetix > Incidental Mutation

Incidental Mutation 'R4807:Saxo5'

370757

Institutional Source

Beutler Lab

Gene Symbol

Saxo5

Ensembl Gene

ENSMUSG00000040340

Gene Name

stabilizer of axonemal microtubules 5

Synonyms

1700019B03Rik, Tex45

MMRRC Submission

042426-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3520862-3537181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3529004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 193 (K193R)

Ref Sequence

ENSEMBL: ENSMUSP00000123746 (fasta)

Gene Model

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

AlphaFold

G3XA23

Predicted Effect

probably benign
Transcript: ENSMUST00000047265
AA Change: K193R

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000043586
Gene: ENSMUSG00000040340
AA Change: K193R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159076
AA Change: K193R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123746
Gene: ENSMUSG00000040340
AA Change: K193R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161680
AA Change: K193R

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124916
Gene: ENSMUSG00000040340
AA Change: K193R

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

Meta Mutation Damage Score

0.1062

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,139,832 (GRCm39)	A1499V	probably damaging	Het
Agap3	T	A	5: 24,682,114 (GRCm39)	D386E	probably damaging	Het
Ahdc1	C	A	4: 132,791,624 (GRCm39)	T955K	possibly damaging	Het
Ankrd9	A	G	12: 110,943,669 (GRCm39)	Y122H	probably benign	Het
Apc2	G	T	10: 80,150,196 (GRCm39)	R1721L	probably benign	Het
Arfgef3	A	G	10: 18,522,385 (GRCm39)	V547A	probably benign	Het
Arhgap42	T	C	9: 9,046,629 (GRCm39)	N203D	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Aspm	T	A	1: 139,405,657 (GRCm39)	F1515I	probably damaging	Het
Baz1a	T	C	12: 54,945,267 (GRCm39)	T1363A	probably benign	Het
Cacng3	C	T	7: 122,353,732 (GRCm39)	A72V	probably benign	Het
Casp8ap2	T	C	4: 32,644,505 (GRCm39)	C1193R	possibly damaging	Het
Ccr3	A	G	9: 123,829,334 (GRCm39)	Y223C	probably damaging	Het
Clcn3	C	A	8: 61,387,564 (GRCm39)	L201F	probably damaging	Het
Cltc	A	C	11: 86,591,902 (GRCm39)		probably benign	Het
Cyp19a1	G	T	9: 54,083,930 (GRCm39)	T86K	possibly damaging	Het
Ddx24	A	T	12: 103,385,720 (GRCm39)	F248L	probably damaging	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dync2h1	T	C	9: 7,139,422 (GRCm39)	I1404M	probably benign	Het
Emilin2	A	T	17: 71,580,443 (GRCm39)	V761E	probably damaging	Het
Endou	C	T	15: 97,629,113 (GRCm39)	C13Y	probably benign	Het
Ep400	C	A	5: 110,843,444 (GRCm39)		probably null	Het
Fbxo33	C	A	12: 59,265,998 (GRCm39)	D90Y	probably damaging	Het
Fryl	A	G	5: 73,198,705 (GRCm39)	F2641L	probably benign	Het
Gbp2b	A	G	3: 142,304,006 (GRCm39)	I34V	probably benign	Het
Ghdc	T	C	11: 100,661,051 (GRCm39)	H38R	probably damaging	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr63	A	C	4: 25,007,446 (GRCm39)	M57L	probably benign	Het
Gprc5c	A	G	11: 114,755,324 (GRCm39)	S3G	probably damaging	Het
Grk4	A	T	5: 34,909,552 (GRCm39)	M539L	probably benign	Het
Gulo	C	T	14: 66,227,833 (GRCm39)	M366I	probably benign	Het
Heatr5a	T	C	12: 51,924,303 (GRCm39)	H1970R	probably damaging	Het
Hmbox1	T	C	14: 65,062,998 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,267,965 (GRCm39)		probably benign	Het
Il1b	A	T	2: 129,212,226 (GRCm39)	C9S	probably benign	Het
Itpkb	A	T	1: 180,162,440 (GRCm39)		probably benign	Het
Kcnn1	T	A	8: 71,300,822 (GRCm39)	H473L	probably damaging	Het
Kidins220	C	T	12: 25,107,284 (GRCm39)	S1579L	probably damaging	Het
Kif1b	A	T	4: 149,332,378 (GRCm39)		probably benign	Het
Lyg2	A	T	1: 37,950,148 (GRCm39)	M60K	possibly damaging	Het
Mak16	G	T	8: 31,656,161 (GRCm39)	H107Q	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,022,855 (GRCm39)	S623P	probably benign	Het
Mccc1	T	C	3: 36,039,195 (GRCm39)	Y46C	probably damaging	Het
Mdn1	T	G	4: 32,685,651 (GRCm39)		probably null	Het
Med25	T	A	7: 44,534,043 (GRCm39)	T31S	probably benign	Het
Mprip	G	A	11: 59,648,846 (GRCm39)	G850D	probably benign	Het
Mrpl10	T	C	11: 96,932,449 (GRCm39)	I8T	probably benign	Het
Msr1	T	C	8: 40,095,668 (GRCm39)		probably benign	Het
Myo3b	T	A	2: 69,936,056 (GRCm39)	I99N	probably damaging	Het
Neurod6	A	T	6: 55,655,640 (GRCm39)	N332K	probably damaging	Het
Npc1l1	T	C	11: 6,168,723 (GRCm39)	Y886C	probably damaging	Het
Nsmaf	T	C	4: 6,398,542 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or5d47	T	A	2: 87,804,095 (GRCm39)	I305L	probably benign	Het
Plppr2	A	G	9: 21,855,810 (GRCm39)	N261S	probably damaging	Het
Prkar2a	T	A	9: 108,617,584 (GRCm39)		probably benign	Het
Pxk	G	A	14: 8,144,133 (GRCm38)	V294M	probably damaging	Het
Rars1	A	G	11: 35,699,973 (GRCm39)	F608L	possibly damaging	Het
Rasa3	A	G	8: 13,664,633 (GRCm39)	F60L	probably damaging	Het
Rbm47	C	T	5: 66,176,647 (GRCm39)	A490T	possibly damaging	Het
Sardh	T	C	2: 27,079,539 (GRCm39)	I918V	probably benign	Het
Sdhc	T	C	1: 170,963,626 (GRCm39)	Y80C	probably damaging	Het
Selp	T	A	1: 163,971,505 (GRCm39)	M653K	probably damaging	Het
Slc6a17	T	C	3: 107,407,803 (GRCm39)	D56G	possibly damaging	Het
Slco1b2	T	C	6: 141,615,195 (GRCm39)	S367P	probably damaging	Het
Spry4	TTGAGGTCC	T	18: 38,723,328 (GRCm39)		probably null	Het
Strip2	T	A	6: 29,925,092 (GRCm39)	Y143*	probably null	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tex30	C	A	1: 44,126,118 (GRCm39)	V204L	possibly damaging	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tmeff2	A	C	1: 51,018,546 (GRCm39)	N176T	probably benign	Het
Togaram2	C	G	17: 72,004,918 (GRCm39)	T324R	probably damaging	Het
Trpc3	C	T	3: 36,688,531 (GRCm39)	R836Q	probably benign	Het
Trpm7	A	C	2: 126,673,149 (GRCm39)	L535V	probably benign	Het
Vmn1r213	G	A	13: 23,195,775 (GRCm39)	W119*	probably null	Het
Vps29	T	G	5: 122,500,951 (GRCm39)	V176G	probably damaging	Het
Vsig10l	A	G	7: 43,113,173 (GRCm39)	T144A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Zbp1	A	T	2: 173,053,999 (GRCm39)	M174K	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp638	G	A	6: 83,920,040 (GRCm39)	R546H	probably damaging	Het
Zfp820	A	T	17: 22,042,853 (GRCm39)	M1K	probably null	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
R4441:Saxo5	UTSW	8	3,526,105 (GRCm39)	missense	probably damaging	0.97
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'- AGGTACCTGTCTCCGTACTTG -3'
(R):5'- TTTACACTGGAGGAGGCCTG -3'

Sequencing Primer
(F):5'- TATATGTATGTGCACATGCCCCAGG -3'
(R):5'- CACTGGAGGAGGCCTGAGAAC -3'

Posted On

2016-02-04