Mutagenetix > Incidental Mutation

Incidental Mutation 'R1914:Rsph4a'

214697

Institutional Source

Beutler Lab

Gene Symbol

Rsph4a

Ensembl Gene

ENSMUSG00000039552

Gene Name

radial spoke head 4 homolog A (Chlamydomonas)

Synonyms

Rshl3

MMRRC Submission

039932-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R1914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33781107-33792017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33789068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 638 (N638Y)

Ref Sequence

ENSEMBL: ENSMUSP00000131647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169670]

AlphaFold

Q8BYM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000118315
AA Change: N434Y

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113543
Gene: ENSMUSG00000039552
AA Change: N434Y

Domain	Start	End	E-Value	Type
Pfam:Radial_spoke	2	494	2.4e-193	PFAM
low complexity region	498	512	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169670
AA Change: N638Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: N638Y

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
Pfam:Radial_spoke	209	695	2.7e-205	PFAM
low complexity region	702	716	N/A	INTRINSIC

Meta Mutation Damage Score

0.2480

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,622,386 (GRCm39)	V618E	possibly damaging	Het
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Akap12	G	A	10: 4,306,685 (GRCm39)	R1165H	probably benign	Het
Asxl1	T	C	2: 153,243,826 (GRCm39)	S1459P	probably damaging	Het
Bahcc1	C	T	11: 120,176,225 (GRCm39)	R1957C	probably damaging	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Capn15	C	A	17: 26,183,837 (GRCm39)	A215S	probably benign	Het
Casz1	T	C	4: 149,017,415 (GRCm39)	F235L	probably damaging	Het
Ccdc57	A	T	11: 120,794,134 (GRCm39)		probably benign	Het
Cdh23	A	G	10: 60,159,349 (GRCm39)	V2142A	probably damaging	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep104	T	C	4: 154,074,296 (GRCm39)	L516P	possibly damaging	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Diaph3	A	C	14: 86,893,921 (GRCm39)	N29K	probably damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Ephb1	C	T	9: 101,806,577 (GRCm39)	C819Y	probably damaging	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Fezf2	A	T	14: 12,343,988 (GRCm38)	V301E	probably damaging	Het
Fnbp4	T	C	2: 90,609,537 (GRCm39)		probably benign	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gas6	T	C	8: 13,527,152 (GRCm39)	T199A	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Grm4	A	T	17: 27,653,686 (GRCm39)	C755S	probably damaging	Het
Hdgfl2	A	G	17: 56,403,978 (GRCm39)	D278G	probably damaging	Het
Heatr5a	G	T	12: 51,952,250 (GRCm39)	A1130E	probably damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Ing1	T	A	8: 11,611,577 (GRCm39)	V63E	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Klf5	T	C	14: 99,539,357 (GRCm39)	S177P	probably benign	Het
Lats1	T	A	10: 7,586,221 (GRCm39)		probably benign	Het
Lilrb4a	A	G	10: 51,368,045 (GRCm39)	I53M	probably benign	Het
Lrrc2	T	A	9: 110,810,007 (GRCm39)	Y348N	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Med25	A	G	7: 44,534,046 (GRCm39)	S245P	probably benign	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Naip6	T	A	13: 100,435,936 (GRCm39)	E862D	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nyap2	T	C	1: 81,169,602 (GRCm39)	S120P	probably damaging	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Pappa2	A	T	1: 158,578,133 (GRCm39)	D1721E	probably damaging	Het
Pcid2	A	T	8: 13,144,141 (GRCm39)		probably null	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rabggta	A	T	14: 55,958,646 (GRCm39)	F62L	possibly damaging	Het
Rasal3	G	A	17: 32,615,324 (GRCm39)	Q505*	probably null	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Scn9a	A	G	2: 66,396,594 (GRCm39)	F100L	probably damaging	Het
Siglece	A	G	7: 43,307,219 (GRCm39)	V256A	probably benign	Het
Slc23a2	A	T	2: 131,898,686 (GRCm39)	L617Q	probably damaging	Het
Snx9	T	C	17: 5,978,531 (GRCm39)	I567T	possibly damaging	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tbl1xr1	T	C	3: 22,245,074 (GRCm39)		probably benign	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Trim43c	T	A	9: 88,722,670 (GRCm39)	D105E	probably benign	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Vmn2r18	T	C	5: 151,499,286 (GRCm39)	N393D	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly damaging	Het

Other mutations in Rsph4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Rsph4a	APN	10	33,790,339 (GRCm39)	missense	probably damaging	1.00
IGL00536:Rsph4a	APN	10	33,787,652 (GRCm39)	splice site	probably benign
IGL00702:Rsph4a	APN	10	33,789,068 (GRCm39)	missense	probably damaging	0.99
IGL02313:Rsph4a	APN	10	33,781,521 (GRCm39)	missense	possibly damaging	0.56
IGL02556:Rsph4a	APN	10	33,781,148 (GRCm39)	utr 5 prime	probably benign
PIT4519001:Rsph4a	UTSW	10	33,785,126 (GRCm39)	missense	probably benign	0.09
R0006:Rsph4a	UTSW	10	33,785,144 (GRCm39)	missense	probably damaging	1.00
R0006:Rsph4a	UTSW	10	33,785,144 (GRCm39)	missense	probably damaging	1.00
R0088:Rsph4a	UTSW	10	33,785,349 (GRCm39)	missense	probably benign	0.15
R0513:Rsph4a	UTSW	10	33,788,987 (GRCm39)	nonsense	probably null
R1559:Rsph4a	UTSW	10	33,785,727 (GRCm39)	missense	probably damaging	0.99
R1589:Rsph4a	UTSW	10	33,781,525 (GRCm39)	missense	probably benign	0.01
R1783:Rsph4a	UTSW	10	33,787,632 (GRCm39)	missense	probably damaging	1.00
R2046:Rsph4a	UTSW	10	33,790,539 (GRCm39)	unclassified	probably benign
R2280:Rsph4a	UTSW	10	33,787,595 (GRCm39)	missense	probably benign	0.00
R2496:Rsph4a	UTSW	10	33,784,094 (GRCm39)	missense	possibly damaging	0.87
R3084:Rsph4a	UTSW	10	33,785,198 (GRCm39)	missense	probably damaging	1.00
R3086:Rsph4a	UTSW	10	33,785,198 (GRCm39)	missense	probably damaging	1.00
R4519:Rsph4a	UTSW	10	33,787,623 (GRCm39)	nonsense	probably null
R4965:Rsph4a	UTSW	10	33,785,236 (GRCm39)	missense	probably damaging	1.00
R5077:Rsph4a	UTSW	10	33,784,275 (GRCm39)	missense	probably damaging	1.00
R5264:Rsph4a	UTSW	10	33,785,379 (GRCm39)	missense	probably damaging	1.00
R5359:Rsph4a	UTSW	10	33,784,232 (GRCm39)	missense	probably benign	0.08
R5464:Rsph4a	UTSW	10	33,785,337 (GRCm39)	missense	possibly damaging	0.64
R5615:Rsph4a	UTSW	10	33,785,324 (GRCm39)	missense	probably benign	0.32
R5751:Rsph4a	UTSW	10	33,781,789 (GRCm39)	missense	probably damaging	0.99
R5763:Rsph4a	UTSW	10	33,781,684 (GRCm39)	missense	probably damaging	0.98
R5832:Rsph4a	UTSW	10	33,785,498 (GRCm39)	missense	probably benign	0.01
R6243:Rsph4a	UTSW	10	33,785,139 (GRCm39)	missense	probably damaging	1.00
R6654:Rsph4a	UTSW	10	33,788,988 (GRCm39)	missense	probably benign
R6918:Rsph4a	UTSW	10	33,781,272 (GRCm39)	missense	probably benign	0.00
R7081:Rsph4a	UTSW	10	33,785,189 (GRCm39)	missense	probably damaging	0.97
R7453:Rsph4a	UTSW	10	33,785,289 (GRCm39)	missense	probably benign	0.00
R7611:Rsph4a	UTSW	10	33,781,473 (GRCm39)	missense	probably benign	0.15
R7670:Rsph4a	UTSW	10	33,785,029 (GRCm39)	missense	probably damaging	1.00
R8017:Rsph4a	UTSW	10	33,785,455 (GRCm39)	missense	probably damaging	1.00
R8495:Rsph4a	UTSW	10	33,781,488 (GRCm39)	missense	probably benign	0.00
R8806:Rsph4a	UTSW	10	33,785,445 (GRCm39)	missense	probably damaging	0.99
R8884:Rsph4a	UTSW	10	33,781,840 (GRCm39)	splice site	probably benign
R9171:Rsph4a	UTSW	10	33,785,438 (GRCm39)	nonsense	probably null
R9269:Rsph4a	UTSW	10	33,785,394 (GRCm39)	missense	probably benign
R9392:Rsph4a	UTSW	10	33,781,236 (GRCm39)	missense	probably benign	0.24
R9483:Rsph4a	UTSW	10	33,790,418 (GRCm39)	missense	probably damaging	1.00
X0057:Rsph4a	UTSW	10	33,781,723 (GRCm39)	missense	possibly damaging	0.58
X0066:Rsph4a	UTSW	10	33,789,005 (GRCm39)	missense	possibly damaging	0.94
Z1176:Rsph4a	UTSW	10	33,787,639 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGGTTACCAGTAGATTCTCATC -3'
(R):5'- AATCTATCTGACCCGGGGAAG -3'

Sequencing Primer
(F):5'- CCAGTAGATTCTCATCTGTTTAAGGG -3'
(R):5'- CTTACCAAGTTGACCATGCTGAG -3'

Posted On

2014-07-14