Mutagenetix > Incidental Mutation

Incidental Mutation 'R6130:Saxo4'

487112

Institutional Source

Beutler Lab

Gene Symbol

Saxo4

Ensembl Gene

ENSMUSG00000035179

Gene Name

stabilizer of axonemal microtubules 4

Synonyms

IIIG9, IIIG9L, 4930579J09Rik, Ppp1r32, IIIG9S

MMRRC Submission

044277-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10451599-10460292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10455128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 233 (P233L)

Ref Sequence

ENSEMBL: ENSMUSP00000035684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038842]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038842
AA Change: P233L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abi3	T	A	11: 95,727,921 (GRCm39)	E90V	probably damaging	Het
Adgrv1	A	C	13: 81,575,864 (GRCm39)	V4834G	probably damaging	Het
Aen	A	T	7: 78,552,387 (GRCm39)		probably null	Het
Ankrd55	A	G	13: 112,454,980 (GRCm39)	D26G	probably damaging	Het
Antxr2	T	C	5: 98,152,131 (GRCm39)	E160G	possibly damaging	Het
Auts2	T	C	5: 131,469,061 (GRCm39)	H528R	probably damaging	Het
Casd1	A	G	6: 4,641,948 (GRCm39)	T742A	probably damaging	Het
Ccdc39	T	C	3: 33,895,341 (GRCm39)		probably null	Het
Ctla4	T	C	1: 60,951,650 (GRCm39)	Y60H	probably damaging	Het
Dennd4b	T	C	3: 90,183,566 (GRCm39)	L935P	probably damaging	Het
Dnah6	T	A	6: 73,165,477 (GRCm39)	T543S	probably benign	Het
Dnai3	A	C	3: 145,748,559 (GRCm39)	Y852D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fdxacb1	C	T	9: 50,683,902 (GRCm39)	R420*	probably null	Het
Flg	A	G	3: 93,200,023 (GRCm39)		probably benign	Het
Fpr1	T	A	17: 18,097,897 (GRCm39)	I31F	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gsta1	T	A	9: 78,149,847 (GRCm39)	F220Y	probably damaging	Het
Hmg20a	T	A	9: 56,395,891 (GRCm39)		probably null	Het
Igf2bp1	A	C	11: 95,864,846 (GRCm39)	L201R	probably damaging	Het
Jph3	G	A	8: 122,479,826 (GRCm39)	R168H	probably damaging	Het
Kif1a	T	A	1: 92,964,623 (GRCm39)	I1318F	probably damaging	Het
Lamc2	T	C	1: 153,012,523 (GRCm39)	N717S	probably benign	Het
Lepr	A	T	4: 101,622,569 (GRCm39)	S450C	probably damaging	Het
Muc16	A	G	9: 18,501,994 (GRCm39)	V6535A	probably damaging	Het
Myom3	A	G	4: 135,489,882 (GRCm39)	T18A	probably benign	Het
Nlrp5	A	G	7: 23,103,598 (GRCm39)	K22E	probably benign	Het
Obscn	A	C	11: 58,968,771 (GRCm39)	S2534A	possibly damaging	Het
Or1j21	A	T	2: 36,684,055 (GRCm39)	D269V	probably benign	Het
Or2ak5	A	G	11: 58,611,133 (GRCm39)	V247A	probably damaging	Het
Pcdhga8	T	A	18: 37,860,580 (GRCm39)	N545K	possibly damaging	Het
Pcsk5	A	T	19: 17,488,920 (GRCm39)	Y967N	probably damaging	Het
Robo2	C	T	16: 73,717,570 (GRCm39)	G100S	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scap	A	G	9: 110,209,447 (GRCm39)	T707A	possibly damaging	Het
Scarf1	A	G	11: 75,416,565 (GRCm39)	Q669R	probably benign	Het
Scin	T	C	12: 40,119,435 (GRCm39)	D531G	probably benign	Het
Sh2b3	T	C	5: 121,953,626 (GRCm39)		probably null	Het
Slco1a6	T	C	6: 142,032,155 (GRCm39)	S657G	probably benign	Het
Stil	T	A	4: 114,887,058 (GRCm39)		probably null	Het
Syna	T	A	5: 134,587,122 (GRCm39)	Q609L	possibly damaging	Het
Tmem59l	A	G	8: 70,937,255 (GRCm39)	S271P	probably damaging	Het
Tns2	A	G	15: 102,019,676 (GRCm39)	E522G	probably damaging	Het
Trappc6a	G	A	7: 19,249,219 (GRCm39)	A149T	probably benign	Het
Trim21	A	T	7: 102,212,498 (GRCm39)	L156H	possibly damaging	Het
Trpv3	A	G	11: 73,187,309 (GRCm39)	R714G	possibly damaging	Het
Zfp87	T	A	13: 74,520,460 (GRCm39)	Q206L	possibly damaging	Het

Other mutations in Saxo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Saxo4	APN	19	10,454,887 (GRCm39)	critical splice donor site	probably null
IGL00979:Saxo4	APN	19	10,451,863 (GRCm39)	makesense	probably null
IGL02405:Saxo4	APN	19	10,451,930 (GRCm39)	missense	probably damaging	1.00
IGL02664:Saxo4	APN	19	10,459,655 (GRCm39)	missense	probably damaging	1.00
IGL03105:Saxo4	APN	19	10,454,384 (GRCm39)	splice site	probably benign
R0255:Saxo4	UTSW	19	10,452,418 (GRCm39)	missense	probably damaging	1.00
R0268:Saxo4	UTSW	19	10,454,449 (GRCm39)	missense	possibly damaging	0.88
R1018:Saxo4	UTSW	19	10,456,824 (GRCm39)	splice site	probably benign
R1559:Saxo4	UTSW	19	10,458,770 (GRCm39)	missense	probably benign	0.01
R2384:Saxo4	UTSW	19	10,458,646 (GRCm39)	critical splice donor site	probably null
R4362:Saxo4	UTSW	19	10,452,385 (GRCm39)	missense	probably damaging	1.00
R4884:Saxo4	UTSW	19	10,451,865 (GRCm39)	makesense	probably null
R5998:Saxo4	UTSW	19	10,458,716 (GRCm39)	missense	possibly damaging	0.50
R6360:Saxo4	UTSW	19	10,456,845 (GRCm39)	missense	probably damaging	1.00
R6388:Saxo4	UTSW	19	10,459,665 (GRCm39)	missense	probably damaging	1.00
R6625:Saxo4	UTSW	19	10,459,100 (GRCm39)	missense	probably damaging	0.97
R6754:Saxo4	UTSW	19	10,454,453 (GRCm39)	missense	probably damaging	1.00
R7188:Saxo4	UTSW	19	10,459,702 (GRCm39)	missense	probably benign	0.15
R7361:Saxo4	UTSW	19	10,456,943 (GRCm39)	missense	probably damaging	1.00
R7679:Saxo4	UTSW	19	10,459,618 (GRCm39)	missense	probably damaging	1.00
R8157:Saxo4	UTSW	19	10,455,629 (GRCm39)	missense	probably damaging	1.00
R8797:Saxo4	UTSW	19	10,455,602 (GRCm39)	missense	probably benign	0.43
R8859:Saxo4	UTSW	19	10,459,599 (GRCm39)	missense	probably damaging	1.00
R9315:Saxo4	UTSW	19	10,458,767 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAATCCAGTGTCCCGATCAG -3'
(R):5'- TCCCATTCTGGACCAGGAGTTG -3'

Sequencing Primer
(F):5'- ATCAGAGCCTCTGGACAGC -3'
(R):5'- TGGTCATTCCACCCAAACTC -3'

Posted On

2017-10-10