Mutagenetix > Incidental Mutations

Incidental Mutation 'R7611:Rsph4a'

588609

Institutional Source

Beutler Lab

Gene Symbol

Rsph4a

Ensembl Gene

ENSMUSG00000039552

Gene Name

radial spoke head 4 homolog A (Chlamydomonas)

Synonyms

Rshl3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R7611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33905111-33916021 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33905477 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 108 (P108S)

Ref Sequence

ENSEMBL: ENSMUSP00000131647 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169670
AA Change: P108S

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: P108S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	G	8: 45,970,451	Y75H	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy8	C	T	15: 64,921,033	G25S	probably benign	Het
Ahnak2	G	T	12: 112,788,129	D35E		Het
Birc6	T	C	17: 74,662,718	M4261T	probably damaging	Het
Caln1	T	G	5: 130,506,077	F45V	probably damaging	Het
Camta2	A	T	11: 70,681,546	I313N	possibly damaging	Het
Capns1	T	A	7: 30,190,114	E220V	probably damaging	Het
Carmil1	C	A	13: 24,013,332	V1374L	probably benign	Het
Casp2	T	G	6: 42,274,038	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,310,743	V19L	probably benign	Het
Ces1c	T	C	8: 93,124,511	N162D	probably benign	Het
Chd9	T	C	8: 91,036,389	S2281P	probably damaging	Het
Chst13	T	C	6: 90,309,017	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,285,680	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,921,996	T405S	probably benign	Het
Cmah	T	C	13: 24,435,647	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,860,381	M396K	probably benign	Het
Ddr2	A	T	1: 169,998,158	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,402,353	I145N	probably benign	Het
Ddx58	T	C	4: 40,225,651	E250G	probably damaging	Het
Ephb2	T	A	4: 136,660,901		probably null	Het
Fgfr1	A	T	8: 25,558,205	K106*	probably null	Het
Gpr6	A	G	10: 41,070,879	F236L	probably benign	Het
Grin2c	A	G	11: 115,252,685	S750P	probably damaging	Het
Hecw2	A	G	1: 53,913,300	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911		probably null	Het
Hmg20b	T	A	10: 81,349,598		probably benign	Het
Kcnk10	T	A	12: 98,518,640	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,632,429	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,200,571	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,395,518	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,615,107	A84T	probably benign	Het
Mmp19	A	G	10: 128,798,988	D491G	probably benign	Het
Mug1	A	T	6: 121,875,428		probably null	Het
Myh1	A	T	11: 67,210,417	H673L	possibly damaging	Het
Nlrc5	T	C	8: 94,512,648		probably null	Het
Nme9	T	A	9: 99,470,790	S264R	probably benign	Het
Nup153	T	C	13: 46,687,322	T937A	probably benign	Het
Obsl1	T	C	1: 75,505,380	E282G	probably damaging	Het
Olfr1030	T	A	2: 85,984,063	C74*	probably null	Het
Olfr1076	T	A	2: 86,509,053	I198K	possibly damaging	Het
Olfr1364	A	G	13: 21,574,318	V46A	probably benign	Het
Olfr1436	T	A	19: 12,298,878	M85L	probably damaging	Het
Olfr1451	T	A	19: 12,999,067	I27N	possibly damaging	Het
Olfr724	C	A	14: 49,960,911	A54S	probably benign	Het
Olfr98	A	G	17: 37,262,854	V270A	probably benign	Het
Pcdhga12	T	C	18: 37,768,425	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,605,083		probably null	Het
Prr29	C	G	11: 106,376,332	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,220	M1103K	probably benign	Het
Setd1b	A	C	5: 123,152,594	M875L	unknown	Het
Slc15a2	A	G	16: 36,756,311	S485P	probably benign	Het
Smoc1	A	G	12: 81,179,670	D423G	probably damaging	Het
Spast	T	A	17: 74,369,203	V337D	probably damaging	Het
Spesp1	T	C	9: 62,272,705	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,836,243	E503G	probably benign	Het
Susd6	T	C	12: 80,874,567	Y313H	probably damaging	Het
Them4	A	T	3: 94,331,558	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Tspear	A	T	10: 77,881,215	T575S	probably benign	Het
Usp21	A	T	1: 171,285,569	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,102,152	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,296,970	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,481,256	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,565,142	V53F	probably damaging	Het
Vmn2r76	A	G	7: 86,230,180	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,413,997	Y256S		Het
Zfhx4	A	T	3: 5,403,771	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,911,788	H224R	probably damaging	Het
Zfp865	A	G	7: 5,031,131	E705G	probably damaging	Het

Other mutations in Rsph4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Rsph4a	APN	10	33914343	missense	probably damaging	1.00
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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCACCTGAGTACCGGGAAG -3'
(R):5'- GGTCAAATCTCAGCCCTTTGTG -3'

Sequencing Primer
(F):5'- CCTGAGTACCGGGAAGAGGAG -3'
(R):5'- AAATCTCAGCCCTTTGTGCTTGG -3'

Posted On

2019-10-24