Mutagenetix > Incidental Mutation

Incidental Mutation 'R4965:Rsph4a'

383929

Institutional Source

Beutler Lab

Gene Symbol

Rsph4a

Ensembl Gene

ENSMUSG00000039552

Gene Name

radial spoke head 4 homolog A (Chlamydomonas)

Synonyms

Rshl3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R4965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33781107-33792017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33785236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 382 (E382D)

Ref Sequence

ENSEMBL: ENSMUSP00000131647 (fasta)

Gene Model

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

AlphaFold

Q8BYM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000118315
AA Change: E178D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113543
Gene: ENSMUSG00000039552
AA Change: E178D

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: E382D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: E382D

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,775,433 (GRCm39)	T1541A	probably benign	Het
9530002B09Rik	T	C	4: 122,594,285 (GRCm39)	M59T	probably benign	Het
Adam18	C	T	8: 25,131,827 (GRCm39)	C428Y	probably damaging	Het
Adcy5	A	G	16: 35,098,872 (GRCm39)	E700G	possibly damaging	Het
Adprh	G	T	16: 38,266,142 (GRCm39)	Y333*	probably null	Het
Agfg2	C	A	5: 137,665,439 (GRCm39)		probably null	Het
Akip1	A	T	7: 109,310,961 (GRCm39)	E167V	probably damaging	Het
Akr1c21	A	T	13: 4,630,304 (GRCm39)	Q199L	probably damaging	Het
Aldh9a1	C	A	1: 167,193,358 (GRCm39)	A455E	probably damaging	Het
Amph	G	A	13: 19,321,869 (GRCm39)	S520N	probably benign	Het
Ankrd52	A	G	10: 128,226,376 (GRCm39)	D1006G	probably benign	Het
Ap5z1	A	C	5: 142,453,431 (GRCm39)	Q133P	probably damaging	Het
Babam1	C	T	8: 71,857,032 (GRCm39)	A331V	possibly damaging	Het
Btc	T	C	5: 91,510,160 (GRCm39)		probably null	Het
Cacna2d3	A	G	14: 28,704,289 (GRCm39)	F831L	probably benign	Het
Cadm3	G	A	1: 173,164,664 (GRCm39)	P372L	probably damaging	Het
Capn5	A	T	7: 97,775,624 (GRCm39)	M439K	probably damaging	Het
Carf	T	C	1: 60,189,796 (GRCm39)	S639P	probably damaging	Het
Casp12	C	T	9: 5,352,250 (GRCm39)	R81C	probably benign	Het
Ces2e	G	T	8: 105,660,330 (GRCm39)	R555M	probably benign	Het
Cfap54	T	A	10: 92,902,661 (GRCm39)	I164F	probably benign	Het
Cltc	C	T	11: 86,598,327 (GRCm39)	V1012I	probably damaging	Het
Cmya5	G	A	13: 93,232,295 (GRCm39)	T931I	possibly damaging	Het
Cntn6	A	G	6: 104,751,435 (GRCm39)	I364V	probably damaging	Het
Cntnap1	A	T	11: 101,068,251 (GRCm39)	I59F	possibly damaging	Het
Cop1	T	C	1: 159,067,167 (GRCm39)	M80T	probably damaging	Het
Cplx2	A	G	13: 54,527,460 (GRCm39)	S115G	possibly damaging	Het
Crtac1	A	G	19: 42,307,179 (GRCm39)	Y195H	probably damaging	Het
Csn1s2a	A	C	5: 87,929,697 (GRCm39)	S99R	possibly damaging	Het
Csn1s2b	T	A	5: 87,961,820 (GRCm39)	D41E	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cux1	A	T	5: 136,340,410 (GRCm39)	N625K	possibly damaging	Het
Cyp2c37	A	T	19: 40,000,206 (GRCm39)	M443L	possibly damaging	Het
Cyp2s1	G	A	7: 25,508,710 (GRCm39)	T244I	possibly damaging	Het
Dgkh	C	T	14: 78,861,861 (GRCm39)	V135M	probably damaging	Het
Dtl	T	C	1: 191,278,677 (GRCm39)	E395G	possibly damaging	Het
Dyrk1a	G	T	16: 94,492,854 (GRCm39)	G658*	probably null	Het
Erlin2	T	C	8: 27,519,623 (GRCm39)	F117S	probably damaging	Het
Fkbp8	A	G	8: 70,984,173 (GRCm39)		probably null	Het
Fras1	T	C	5: 96,874,439 (GRCm39)	F2288S	possibly damaging	Het
Frmd3	A	G	4: 74,071,837 (GRCm39)	T240A	probably damaging	Het
H2-D1	A	G	17: 35,482,881 (GRCm39)	Y137C	probably damaging	Het
Helz2	A	G	2: 180,882,709 (GRCm39)	V28A	possibly damaging	Het
Hydin	A	G	8: 111,124,727 (GRCm39)	I579V	probably benign	Het
Il6	A	T	5: 30,218,491 (GRCm39)	Y29F	possibly damaging	Het
Ildr2	A	G	1: 166,135,409 (GRCm39)	D368G	probably damaging	Het
Junb	T	A	8: 85,704,788 (GRCm39)	I91F	probably damaging	Het
Kat2a	C	A	11: 100,603,029 (GRCm39)		probably benign	Het
Kat2a	A	T	11: 100,603,030 (GRCm39)		probably benign	Het
Kcnh5	T	A	12: 75,011,925 (GRCm39)	T665S	probably benign	Het
Kdm1b	A	T	13: 47,227,843 (GRCm39)	D608V	probably damaging	Het
Krcc1	A	G	6: 71,261,621 (GRCm39)	K218E	probably damaging	Het
Krt8	C	T	15: 101,905,386 (GRCm39)	V488M	probably benign	Het
Lzts1	C	T	8: 69,591,414 (GRCm39)	A245T	probably benign	Het
Mcm6	T	A	1: 128,287,223 (GRCm39)	Q27L	probably damaging	Het
Mfsd4b3-ps	G	T	10: 39,823,686 (GRCm39)	Y191*	probably null	Het
Mgme1	C	T	2: 144,118,324 (GRCm39)	Q199*	probably null	Het
Mgme1	T	C	2: 144,121,540 (GRCm39)	L332P	probably benign	Het
Morc3	G	T	16: 93,657,475 (GRCm39)	E25*	probably null	Het
Mroh7	G	A	4: 106,548,184 (GRCm39)	A1098V	possibly damaging	Het
Mtrf1	G	A	14: 79,644,027 (GRCm39)	R174H	probably benign	Het
Mybpc3	G	A	2: 90,949,592 (GRCm39)	G45D	possibly damaging	Het
Mycbpap	A	T	11: 94,395,764 (GRCm39)	N733K	probably damaging	Het
N4bp1	T	C	8: 87,578,314 (GRCm39)	I684V	possibly damaging	Het
Nav2	A	T	7: 49,202,625 (GRCm39)	R1470*	probably null	Het
Ndufa9	A	T	6: 126,799,026 (GRCm39)	S364T	probably benign	Het
Nipal4	C	A	11: 46,052,837 (GRCm39)	A43S	possibly damaging	Het
Nlrp1a	T	A	11: 70,983,141 (GRCm39)	Y1275F	possibly damaging	Het
Nova1	A	T	12: 46,767,618 (GRCm39)	L8*	probably null	Het
Odam	G	T	5: 88,037,967 (GRCm39)	G181*	probably null	Het
Optn	T	A	2: 5,026,190 (GRCm39)	Q576L	probably benign	Het
Or2c1	T	C	16: 3,657,434 (GRCm39)	L199P	probably damaging	Het
Or4k47	T	C	2: 111,451,879 (GRCm39)	D180G	probably damaging	Het
Or4l1	C	T	14: 50,166,354 (GRCm39)	V216I	probably benign	Het
Or51a39	A	T	7: 102,362,702 (GRCm39)	I306N	probably damaging	Het
Or5as1	T	A	2: 86,981,003 (GRCm39)	M1L	possibly damaging	Het
Or5h18	A	T	16: 58,847,696 (GRCm39)	D191E	probably damaging	Het
Or8s2	T	C	15: 98,277,030 (GRCm39)		probably benign	Het
Patl2	G	T	2: 121,959,329 (GRCm39)	S45*	probably null	Het
Pde2a	G	A	7: 101,152,140 (GRCm39)	G349E	probably benign	Het
Pdlim2	T	A	14: 70,405,464 (GRCm39)		probably benign	Het
Per1	T	C	11: 68,995,227 (GRCm39)	V653A	probably benign	Het
Phlda2	A	G	7: 143,056,005 (GRCm39)	S75P	probably damaging	Het
Poldip3	A	T	15: 83,021,706 (GRCm39)	M167K	possibly damaging	Het
Potegl	C	A	2: 23,135,127 (GRCm39)	T312K	probably benign	Het
Prpf38a	T	C	4: 108,436,278 (GRCm39)	I12V	probably benign	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Ptges3l	A	T	11: 101,315,448 (GRCm39)	M1K	probably null	Het
Rdh5	A	G	10: 128,749,653 (GRCm39)	Y296H	probably damaging	Het
Resf1	G	T	6: 149,229,896 (GRCm39)	G981*	probably null	Het
Rnf2	T	A	1: 151,348,968 (GRCm39)	K51*	probably null	Het
Rpusd3	C	A	6: 113,393,809 (GRCm39)	R215L	probably benign	Het
S1pr2	G	A	9: 20,879,745 (GRCm39)	Q28*	probably null	Het
Sesn1	A	T	10: 41,771,005 (GRCm39)	I179F	probably damaging	Het
Setd3	T	A	12: 108,079,630 (GRCm39)	E291V	probably benign	Het
Shc1	G	T	3: 89,334,303 (GRCm39)	R323L	probably damaging	Het
Slc22a5	T	C	11: 53,782,352 (GRCm39)	D5G	possibly damaging	Het
Slc6a19	T	C	13: 73,848,677 (GRCm39)	K26E	probably benign	Het
Slc9a3	A	G	13: 74,312,412 (GRCm39)	N670D	possibly damaging	Het
Spata19	A	T	9: 27,311,761 (GRCm39)	I127L	probably benign	Het
Speg	G	T	1: 75,404,347 (GRCm39)	V2751L	probably damaging	Het
Sptbn2	A	G	19: 4,779,337 (GRCm39)	D298G	probably benign	Het
Srm	T	C	4: 148,678,640 (GRCm39)	V289A	possibly damaging	Het
Stip1	C	T	19: 7,012,938 (GRCm39)	A49T	probably benign	Het
Tas2r118	C	A	6: 23,969,627 (GRCm39)	V145F	probably benign	Het
Tbc1d12	A	T	19: 38,854,169 (GRCm39)	K284*	probably null	Het
Tfcp2	T	C	15: 100,423,531 (GRCm39)	H125R	probably damaging	Het
Tfdp1	T	C	8: 13,423,073 (GRCm39)	V206A	probably damaging	Het
Tgtp2	A	G	11: 48,950,237 (GRCm39)	W112R	probably damaging	Het
Tmem71	T	G	15: 66,410,710 (GRCm39)	M221L	probably benign	Het
Tpcn1	T	C	5: 120,685,552 (GRCm39)	N436S	possibly damaging	Het
Usp4	C	T	9: 108,239,819 (GRCm39)	L183F	probably damaging	Het
Vmn2r55	A	T	7: 12,404,478 (GRCm39)	N308K	possibly damaging	Het
Zfp106	T	A	2: 120,364,400 (GRCm39)	D669V	probably damaging	Het
Zfp108	A	T	7: 23,959,573 (GRCm39)	I55L	probably benign	Het
Zfp512b	A	T	2: 181,228,131 (GRCm39)	S8R	probably damaging	Het
Zfp827	T	C	8: 79,787,910 (GRCm39)	S359P	probably benign	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
R1914:Rsph4a	UTSW	10	33,789,068 (GRCm39)	missense	probably damaging	0.99
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
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'- TCTGCCCAATGTGATGGAATC -3'
(R):5'- GGTAACCTTACCCATGGCCTTC -3'

Sequencing Primer
(F):5'- ATTTTGAACAAGCTGGAGTTGG -3'
(R):5'- TATAACCTGTGGGGCCTT -3'

Posted On

2016-04-27