Mutagenetix > Incidental Mutation

Incidental Mutation 'R6243:Rsph4a'

505392

Institutional Source

Beutler Lab

Gene Symbol

Rsph4a

Ensembl Gene

ENSMUSG00000039552

Gene Name

radial spoke head 4 homolog A (Chlamydomonas)

Synonyms

Rshl3

MMRRC Submission

044365-MU

Accession Numbers

Essential gene?

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

Stock #

R6243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33781107-33792017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33785139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 350 (Q350L)

Ref Sequence

ENSEMBL: ENSMUSP00000131647 (fasta)

Gene Model

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

AlphaFold

Q8BYM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000169670
AA Change: Q350L

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

SMART Domains

Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: Q350L

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

0.3748

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (73/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,450,809 (GRCm39)	S331P	probably damaging	Het
Akap9	T	G	5: 4,115,000 (GRCm39)		probably null	Het
Ankef1	A	G	2: 136,379,077 (GRCm39)	E9G	probably damaging	Het
Ap1g2	T	C	14: 55,336,530 (GRCm39)	E788G	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asrgl1	A	T	19: 9,093,868 (GRCm39)	I220K	probably damaging	Het
Atg16l2	A	C	7: 100,941,536 (GRCm39)	*404E	probably null	Het
Atp4a	T	C	7: 30,415,382 (GRCm39)	F334S	possibly damaging	Het
Atp6v0d1	T	C	8: 106,292,495 (GRCm39)	E17G	probably benign	Het
Bcat2	T	C	7: 45,237,691 (GRCm39)	V279A	probably benign	Het
Birc6	T	G	17: 74,916,382 (GRCm39)	M459R	probably damaging	Het
Bsn	T	C	9: 107,984,760 (GRCm39)	Y3098C	unknown	Het
Btaf1	T	A	19: 36,958,520 (GRCm39)	M679K	probably benign	Het
Cirop	T	A	14: 54,933,216 (GRCm39)	R322S	probably damaging	Het
Col6a4	T	C	9: 105,890,589 (GRCm39)	T1902A	possibly damaging	Het
Crhr1	G	A	11: 104,064,740 (GRCm39)	C364Y	probably damaging	Het
Crmp1	T	C	5: 37,446,288 (GRCm39)	L648P	probably damaging	Het
Cyfip1	T	C	7: 55,550,277 (GRCm39)	Y671H	probably damaging	Het
Cyp2b13	C	T	7: 25,761,044 (GRCm39)	P34S	probably damaging	Het
Dnajb6	T	A	5: 29,986,131 (GRCm39)	V233E	probably benign	Het
Dnhd1	A	T	7: 105,301,216 (GRCm39)	H191L	probably damaging	Het
Dsg3	T	A	18: 20,672,781 (GRCm39)	D817E	probably damaging	Het
Dytn	T	C	1: 63,686,680 (GRCm39)	Q330R	possibly damaging	Het
Fads1	G	T	19: 10,163,091 (GRCm39)	E123*	probably null	Het
Fchsd2	T	C	7: 100,921,016 (GRCm39)		probably benign	Het
Fmo9	T	C	1: 166,494,938 (GRCm39)	E270G	probably benign	Het
Folr1	T	A	7: 101,513,172 (GRCm39)	H41L	probably damaging	Het
Gm7298	A	G	6: 121,756,096 (GRCm39)	N985S	possibly damaging	Het
Gp1ba	T	C	11: 70,530,963 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Igf2bp3	A	T	6: 49,084,362 (GRCm39)	N285K	possibly damaging	Het
Lca5l	G	A	16: 95,980,112 (GRCm39)	T6I	possibly damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mpeg1	A	G	19: 12,439,604 (GRCm39)	H354R	probably benign	Het
Msh6	T	A	17: 88,290,999 (GRCm39)	V195E	possibly damaging	Het
Mtfmt	C	T	9: 65,351,182 (GRCm39)	T243I	probably benign	Het
Myo1h	T	A	5: 114,500,208 (GRCm39)	I195K	probably damaging	Het
Nr1h5	T	C	3: 102,856,380 (GRCm39)	K300E	probably benign	Het
Nuak2	T	C	1: 132,260,105 (GRCm39)	S628P	probably benign	Het
Nup214	G	T	2: 31,892,944 (GRCm39)	A721S	possibly damaging	Het
Or12e13	A	G	2: 87,663,385 (GRCm39)	M1V	probably null	Het
Or5d47	A	G	2: 87,804,931 (GRCm39)	V26A	probably benign	Het
Pclo	T	C	5: 14,726,457 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,065,320 (GRCm39)	S12G	probably benign	Het
Pik3r5	T	C	11: 68,382,826 (GRCm39)	Y289H	probably damaging	Het
Pld1	T	C	3: 28,149,954 (GRCm39)	I717T	probably damaging	Het
Plxdc1	A	G	11: 97,846,299 (GRCm39)	Y182H	probably damaging	Het
Ppid	A	G	3: 79,510,373 (GRCm39)	I354V	probably benign	Het
Prss2	T	C	6: 41,501,387 (GRCm39)	V152A	probably benign	Het
Rab28	C	T	5: 41,793,223 (GRCm39)	A141T	probably benign	Het
Rabgap1l	C	T	1: 160,472,877 (GRCm39)		probably null	Het
Rabl6	T	G	2: 25,475,415 (GRCm39)	S553R	probably damaging	Het
Rars1	A	G	11: 35,717,374 (GRCm39)	F170S	possibly damaging	Het
Ror2	T	A	13: 53,267,116 (GRCm39)	M440L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Serpinb2	T	C	1: 107,450,869 (GRCm39)	F204L	probably damaging	Het
Sertad4	T	C	1: 192,533,257 (GRCm39)		probably null	Het
Shisa3	C	T	5: 67,768,486 (GRCm39)	P129S	probably benign	Het
Slc13a2	G	A	11: 78,295,534 (GRCm39)	L111F	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Stab2	T	A	10: 86,743,025 (GRCm39)	R1195W	probably damaging	Het
Syna	C	A	5: 134,588,968 (GRCm39)		probably benign	Het
Thada	A	T	17: 84,744,030 (GRCm39)	D759E	probably benign	Het
Thoc5	A	G	11: 4,869,753 (GRCm39)	Y385C	possibly damaging	Het
Thsd7a	C	T	6: 12,327,601 (GRCm39)	D1424N	probably damaging	Het
Thsd7b	A	T	1: 130,090,599 (GRCm39)	Q1204L	probably benign	Het
Tnfrsf8	T	C	4: 145,029,671 (GRCm39)	N43S	possibly damaging	Het
Trim66	T	C	7: 109,059,481 (GRCm39)	K921R	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ugt2a2	T	G	5: 87,610,818 (GRCm39)	K339N	probably benign	Het
Vmn2r8	T	C	5: 108,947,211 (GRCm39)	T514A	probably benign	Het
Wrn	A	T	8: 33,774,682 (GRCm39)	M652K	possibly damaging	Het
Yme1l1	A	T	2: 23,083,184 (GRCm39)	Y550F	probably benign	Het
Zfp995	G	A	17: 22,099,269 (GRCm39)	P322S	probably 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
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
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
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'- GAACTGAAGTTTGGGGATTAACAC -3'
(R):5'- AACCTGTGGGGCCTTATACAAG -3'

Sequencing Primer
(F):5'- GAAGTTTGGGGATTAACACAATTCAG -3'
(R):5'- ACAAGGACTTCGGTAATTCCTC -3'

Posted On

2018-02-28