Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Rsph4a'

2254

Institutional Source

Australian Phenomics Network (link to record)

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: 0.484) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

33905111-33916021 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33914343 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 643 (E643K)

Ref Sequence

ENSEMBL: ENSMUSP00000131647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169670] [ENSMUST00000218055] [ENSMUST00000218275] [ENSMUST00000218880]

AlphaFold

Q8BYM7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118315
AA Change: E439K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113543
Gene: ENSMUSG00000039552
AA Change: E439K

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: E643K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: E643K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218055

Predicted Effect

probably benign
Transcript: ENSMUST00000218275

Predicted Effect

probably benign
Transcript: ENSMUST00000218880

Coding Region Coverage

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Rsph4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Rsph4a	APN	10	33911656	splice site	probably benign
IGL00702:Rsph4a	APN	10	33913072	missense	probably damaging	0.99
IGL02313:Rsph4a	APN	10	33905525	missense	possibly damaging	0.56
IGL02556:Rsph4a	APN	10	33905152	utr 5 prime	probably benign
PIT4519001:Rsph4a	UTSW	10	33909130	missense	probably benign	0.09
R0006:Rsph4a	UTSW	10	33909148	missense	probably damaging	1.00
R0006:Rsph4a	UTSW	10	33909148	missense	probably damaging	1.00
R0088:Rsph4a	UTSW	10	33909353	missense	probably benign	0.15
R0513:Rsph4a	UTSW	10	33912991	nonsense	probably null
R1559:Rsph4a	UTSW	10	33909731	missense	probably damaging	0.99
R1589:Rsph4a	UTSW	10	33905529	missense	probably benign	0.01
R1783:Rsph4a	UTSW	10	33911636	missense	probably damaging	1.00
R1914:Rsph4a	UTSW	10	33913072	missense	probably damaging	0.99
R2046:Rsph4a	UTSW	10	33914543	unclassified	probably benign
R2280:Rsph4a	UTSW	10	33911599	missense	probably benign	0.00
R2496:Rsph4a	UTSW	10	33908098	missense	possibly damaging	0.87
R3084:Rsph4a	UTSW	10	33909202	missense	probably damaging	1.00
R3086:Rsph4a	UTSW	10	33909202	missense	probably damaging	1.00
R4519:Rsph4a	UTSW	10	33911627	nonsense	probably null
R4965:Rsph4a	UTSW	10	33909240	missense	probably damaging	1.00
R5077:Rsph4a	UTSW	10	33908279	missense	probably damaging	1.00
R5264:Rsph4a	UTSW	10	33909383	missense	probably damaging	1.00
R5359:Rsph4a	UTSW	10	33908236	missense	probably benign	0.08
R5464:Rsph4a	UTSW	10	33909341	missense	possibly damaging	0.64
R5615:Rsph4a	UTSW	10	33909328	missense	probably benign	0.32
R5751:Rsph4a	UTSW	10	33905793	missense	probably damaging	0.99
R5763:Rsph4a	UTSW	10	33905688	missense	probably damaging	0.98
R5832:Rsph4a	UTSW	10	33909502	missense	probably benign	0.01
R6243:Rsph4a	UTSW	10	33909143	missense	probably damaging	1.00
R6654:Rsph4a	UTSW	10	33912992	missense	probably benign
R6918:Rsph4a	UTSW	10	33905276	missense	probably benign	0.00
R7081:Rsph4a	UTSW	10	33909193	missense	probably damaging	0.97
R7453:Rsph4a	UTSW	10	33909293	missense	probably benign	0.00
R7611:Rsph4a	UTSW	10	33905477	missense	probably benign	0.15
R7670:Rsph4a	UTSW	10	33909033	missense	probably damaging	1.00
R8017:Rsph4a	UTSW	10	33909459	missense	probably damaging	1.00
R8495:Rsph4a	UTSW	10	33905492	missense	probably benign	0.00
R8806:Rsph4a	UTSW	10	33909449	missense	probably damaging	0.99
R8884:Rsph4a	UTSW	10	33905844	splice site	probably benign
R9171:Rsph4a	UTSW	10	33909442	nonsense	probably null
R9269:Rsph4a	UTSW	10	33909398	missense	probably benign
R9392:Rsph4a	UTSW	10	33905240	missense	probably benign	0.24
R9483:Rsph4a	UTSW	10	33914422	missense	probably damaging	1.00
X0057:Rsph4a	UTSW	10	33905727	missense	possibly damaging	0.58
X0066:Rsph4a	UTSW	10	33913009	missense	possibly damaging	0.94
Z1176:Rsph4a	UTSW	10	33911643	missense	probably damaging	1.00

Posted On

2011-12-09