Mutagenetix > Incidental Mutation

Incidental Mutation 'R8157:Saxo4'

633109

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

067583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10451599-10460292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10455629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 207 (F207I)

Ref Sequence

ENSEMBL: ENSMUSP00000035684 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038842
AA Change: F207I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310011J03Rik	T	A	10: 80,155,361 (GRCm39)	R51W	probably damaging	Het
Adam3	A	G	8: 25,197,453 (GRCm39)	I326T	probably benign	Het
Alpk3	A	G	7: 80,743,470 (GRCm39)	K1096E	probably benign	Het
Aph1a	T	C	3: 95,802,150 (GRCm39)	V44A	possibly damaging	Het
Ash1l	T	A	3: 88,971,014 (GRCm39)		probably null	Het
Atg2b	A	G	12: 105,629,199 (GRCm39)	M410T	probably damaging	Het
Castor2	T	C	5: 134,165,936 (GRCm39)	F228S	possibly damaging	Het
Ccdc15	C	T	9: 37,226,753 (GRCm39)	G407D	probably benign	Het
Cd200r4	T	A	16: 44,653,504 (GRCm39)	N137K	probably damaging	Het
Clec18a	A	G	8: 111,798,683 (GRCm39)	L438P	probably damaging	Het
Clip1	A	G	5: 123,768,782 (GRCm39)	S606P	probably benign	Het
Col11a2	G	A	17: 34,280,230 (GRCm39)	G1193E	unknown	Het
Col6a4	A	G	9: 105,945,097 (GRCm39)	S1006P	possibly damaging	Het
Ctsc	A	T	7: 87,951,416 (GRCm39)	D221V	probably benign	Het
Ctse	T	C	1: 131,600,249 (GRCm39)	Y333H	probably damaging	Het
Cyp2c23	T	C	19: 44,010,066 (GRCm39)	N93S	probably benign	Het
Daam1	A	T	12: 71,999,263 (GRCm39)	D633V	probably damaging	Het
Dlg2	G	A	7: 92,036,140 (GRCm39)	R607H	probably damaging	Het
Dsg2	T	A	18: 20,713,606 (GRCm39)	D192E	probably damaging	Het
Dync2h1	A	T	9: 7,001,473 (GRCm39)	N3838K	possibly damaging	Het
Ephx2	A	C	14: 66,345,506 (GRCm39)	S153A	probably damaging	Het
Eprs1	C	A	1: 185,130,591 (GRCm39)	H651N	probably benign	Het
Fat2	T	C	11: 55,142,910 (GRCm39)	D4313G	possibly damaging	Het
Fras1	A	G	5: 96,702,714 (GRCm39)	K252R	probably benign	Het
Galt	A	T	4: 41,757,226 (GRCm39)	Q193L	probably benign	Het
Gm7356	T	C	17: 14,221,583 (GRCm39)	K149E	probably damaging	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd1	T	A	12: 51,838,073 (GRCm39)	R696S	possibly damaging	Het
Hydin	A	G	8: 111,178,668 (GRCm39)	I1088V	probably benign	Het
Igkv4-68	A	T	6: 69,282,306 (GRCm39)	S14R	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Lrit3	T	C	3: 129,594,284 (GRCm39)	T98A	probably benign	Het
Macc1	A	G	12: 119,409,728 (GRCm39)	I165M	probably benign	Het
Mapre2	T	A	18: 23,991,218 (GRCm39)	M162K	probably benign	Het
Mzf1	T	A	7: 12,778,279 (GRCm39)	H454L	probably damaging	Het
Naa30	T	A	14: 49,410,865 (GRCm39)	N264K	probably benign	Het
Or5ac17	A	G	16: 59,036,352 (GRCm39)	V208A	probably benign	Het
Or8d2	T	A	9: 38,759,762 (GRCm39)	Y117*	probably null	Het
Osr2	T	C	15: 35,302,063 (GRCm39)	I221T	probably benign	Het
Pcdh12	A	T	18: 38,415,850 (GRCm39)	I425K	probably benign	Het
Pcdhb3	T	G	18: 37,436,292 (GRCm39)	Y753D	probably damaging	Het
Pcdhb9	T	A	18: 37,536,208 (GRCm39)	V734E	probably damaging	Het
Pibf1	T	A	14: 99,433,831 (GRCm39)	L593I	probably benign	Het
Prag1	G	A	8: 36,614,393 (GRCm39)	C1315Y	probably damaging	Het
Prl3c1	T	C	13: 27,383,330 (GRCm39)	S19P	probably damaging	Het
Ptprz1	A	T	6: 23,002,539 (GRCm39)	D1543V	probably damaging	Het
Ripor2	A	G	13: 24,879,600 (GRCm39)	N356S	probably benign	Het
Rmc1	T	C	18: 12,321,690 (GRCm39)	V497A	possibly damaging	Het
Scrib	T	C	15: 75,931,037 (GRCm39)	H914R	possibly damaging	Het
Sema6b	G	A	17: 56,435,448 (GRCm39)	A265V	probably damaging	Het
Tdrd9	C	G	12: 111,951,500 (GRCm39)	L97V	probably benign	Het
Tle7	A	G	8: 110,835,493 (GRCm39)	M24V	probably benign	Het
Trabd	T	A	15: 88,970,024 (GRCm39)	L340H	probably damaging	Het
Trpm1	T	C	7: 63,849,017 (GRCm39)	W88R	probably damaging	Het
Txndc12	G	T	4: 108,710,419 (GRCm39)		probably null	Het
Vmn1r175	T	C	7: 23,508,523 (GRCm39)	I35V	probably benign	Het
Vmn1r48	A	T	6: 90,012,994 (GRCm39)	V277E	probably damaging	Het
Vmn2r72	G	A	7: 85,400,441 (GRCm39)	H203Y	probably benign	Het
Zbtb7c	A	G	18: 76,270,398 (GRCm39)	E162G	probably benign	Het
Zfp93	T	A	7: 23,975,885 (GRCm39)	C623*	probably null	Het
Zzz3	A	G	3: 152,155,285 (GRCm39)	I645V	probably null	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
R6130:Saxo4	UTSW	19	10,455,128 (GRCm39)	missense	probably benign	0.16
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
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'- CATTCCATACTTGTCTGGAGGG -3'
(R):5'- CTGGGCTGATTTCAGTGCTC -3'

Sequencing Primer
(F):5'- CCATACTTGTCTGGAGGGCTTTG -3'
(R):5'- TTGGGTCTGAGCACAGCTACTC -3'

Posted On

2020-06-30