Mutagenetix > Incidental Mutation

Incidental Mutation 'R6457:Saxo5'

516528

Institutional Source

Beutler Lab

Gene Symbol

Saxo5

Ensembl Gene

ENSMUSG00000040340

Gene Name

stabilizer of axonemal microtubules 5

Synonyms

1700019B03Rik, Tex45

MMRRC Submission

044592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6457 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3520862-3537181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3529268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 251 (L251P)

Ref Sequence

ENSEMBL: ENSMUSP00000124916 (fasta)

Gene Model

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

AlphaFold

G3XA23

Predicted Effect

probably damaging
Transcript: ENSMUST00000047265
AA Change: L251P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043586
Gene: ENSMUSG00000040340
AA Change: L251P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159076
AA Change: L251P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123746
Gene: ENSMUSG00000040340
AA Change: L251P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161680
AA Change: L251P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124916
Gene: ENSMUSG00000040340
AA Change: L251P

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,383 (GRCm39)	V524E	probably damaging	Het
Acer2	T	A	4: 86,818,808 (GRCm39)	M152K	probably damaging	Het
Actn3	T	C	19: 4,921,876 (GRCm39)	D130G	probably damaging	Het
Ank1	T	A	8: 23,577,983 (GRCm39)	F211Y	probably damaging	Het
Ankfn1	C	T	11: 89,282,670 (GRCm39)	A326T	probably benign	Het
Ankrd11	G	A	8: 123,635,503 (GRCm39)	R44C	probably damaging	Het
Ankrd46	A	G	15: 36,484,217 (GRCm39)		probably benign	Het
Aurkb	G	A	11: 68,939,172 (GRCm39)	E132K	possibly damaging	Het
Bsdc1	C	T	4: 129,359,069 (GRCm39)	T9I	possibly damaging	Het
Card14	C	T	11: 119,230,428 (GRCm39)	R767*	probably null	Het
Ccdc82	T	A	9: 13,272,745 (GRCm39)	F411L	possibly damaging	Het
Col12a1	C	T	9: 79,552,973 (GRCm39)	G2106D	probably damaging	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,855,198 (GRCm39)	L361P	probably damaging	Het
Cox18	A	G	5: 90,371,548 (GRCm39)	I84T	probably benign	Het
Dhrs3	T	C	4: 144,646,522 (GRCm39)	S125P	probably damaging	Het
Fbxl15	A	G	19: 46,317,765 (GRCm39)	H149R	probably benign	Het
Flg2	T	A	3: 93,127,789 (GRCm39)	S2234T	unknown	Het
Gtf2e1	A	C	16: 37,356,698 (GRCm39)		probably null	Het
H2-Q7	A	T	17: 35,658,655 (GRCm39)	S98C	probably damaging	Het
Hcn2	G	T	10: 79,569,607 (GRCm39)	E536*	probably null	Het
Kat6b	A	T	14: 21,720,748 (GRCm39)	H1700L	probably damaging	Het
Klhl3	C	T	13: 58,248,192 (GRCm39)	V35I	probably benign	Het
Krt34	A	T	11: 99,930,916 (GRCm39)	L162Q	probably damaging	Het
Ly9	A	G	1: 171,416,663 (GRCm39)	S644P	probably damaging	Het
Magi1	A	T	6: 93,676,620 (GRCm39)	V685E	probably damaging	Het
Malrd1	A	G	2: 15,531,408 (GRCm39)		probably benign	Het
Malrd1	A	T	2: 15,672,740 (GRCm39)	H599L	probably benign	Het
Matn2	T	A	15: 34,426,380 (GRCm39)	C631S	probably damaging	Het
Megf8	A	T	7: 25,049,120 (GRCm39)	D1739V	probably damaging	Het
Mlf1	G	A	3: 67,300,277 (GRCm39)	R98Q	probably benign	Het
Mprip	T	A	11: 59,649,815 (GRCm39)	I1173K	possibly damaging	Het
Mrc1	A	G	2: 14,275,016 (GRCm39)	D439G	probably damaging	Het
Mroh5	A	T	15: 73,662,691 (GRCm39)	W208R	probably damaging	Het
Ms4a5	T	G	19: 11,256,646 (GRCm39)	I84L	probably benign	Het
Myt1	G	A	2: 181,405,218 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,907,990 (GRCm39)	H1374L	probably damaging	Het
Nbeal1	T	A	1: 60,292,633 (GRCm39)	I1095K	probably benign	Het
Nolc1	A	G	19: 46,071,509 (GRCm39)		probably benign	Het
Nr5a2	A	G	1: 136,887,976 (GRCm39)	L18P	probably benign	Het
Nup188	G	T	2: 30,212,199 (GRCm39)	C562F	probably damaging	Het
Obscn	A	G	11: 58,971,597 (GRCm39)	V2415A	probably damaging	Het
Pacsin2	A	T	15: 83,263,879 (GRCm39)		probably null	Het
Pias3	A	G	3: 96,606,839 (GRCm39)	H34R	possibly damaging	Het
Ppfia2	T	C	10: 106,729,361 (GRCm39)	V903A	probably damaging	Het
Pramel1	T	A	4: 143,123,275 (GRCm39)	L84Q	probably damaging	Het
Pramel6	G	A	2: 87,339,782 (GRCm39)	C182Y	probably damaging	Het
Prdm4	A	G	10: 85,743,896 (GRCm39)	Y120H	probably damaging	Het
Prss28	A	G	17: 25,530,331 (GRCm39)	M212V	probably benign	Het
Rbp3	G	T	14: 33,677,224 (GRCm39)	G391*	probably null	Het
Rc3h2	C	T	2: 37,301,151 (GRCm39)		probably null	Het
Ret	A	G	6: 118,150,582 (GRCm39)	F645L	probably benign	Het
Sgsm2	A	G	11: 74,755,995 (GRCm39)	S402P	possibly damaging	Het
Shc3	T	A	13: 51,636,915 (GRCm39)		probably null	Het
Slc25a16	A	G	10: 62,776,938 (GRCm39)	N246S	probably benign	Het
Snrpd1	T	A	18: 10,623,694 (GRCm39)	H26Q	probably benign	Het
Thsd1	A	G	8: 22,733,363 (GRCm39)	T137A	probably damaging	Het
Tnik	A	T	3: 28,593,597 (GRCm39)	H151L	probably damaging	Het
Tns1	T	A	1: 73,957,209 (GRCm39)	K1725N	probably damaging	Het
Tomm40l	T	A	1: 171,048,161 (GRCm39)	T147S	probably damaging	Het
Tomm6	G	T	17: 47,998,932 (GRCm39)		probably benign	Het
Trp53	G	A	11: 69,480,440 (GRCm39)	C272Y	probably damaging	Het
Trpm7	A	T	2: 126,649,214 (GRCm39)	V1492E	probably benign	Het
Tsen2	G	A	6: 115,536,592 (GRCm39)	R116H	probably benign	Het
Uvrag	A	G	7: 98,555,726 (GRCm39)	F456S	probably damaging	Het
Vmn1r86	A	T	7: 12,836,279 (GRCm39)	M199K	possibly damaging	Het
Vmn2r4	C	T	3: 64,317,378 (GRCm39)	C120Y	probably 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
R4441:Saxo5	UTSW	8	3,526,105 (GRCm39)	missense	probably damaging	0.97
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
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'- AATCAAGGTGGCATTGGCTC -3'
(R):5'- CAGGGTATATGTGTGCCTAACTC -3'

Sequencing Primer
(F):5'- CATTGGCTCTGCTGGGAG -3'
(R):5'- TGAGGATTTGAACTCAGACCCTC -3'

Posted On

2018-05-21