Mutagenetix > Incidental Mutation

Incidental Mutation 'R8884:Rsph4a'

695747

Institutional Source

Beutler Lab

Gene Symbol

Rsph4a

Ensembl Gene

ENSMUSG00000039552

Gene Name

radial spoke head 4 homolog A (Chlamydomonas)

Synonyms

Rshl3

MMRRC Submission

068690-MU

Accession Numbers

Essential gene?

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

Stock #

R8884 (G1)

Quality Score

169.009

Status

Validated

Chromosome

Chromosomal Location

33781107-33792017 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 33781840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131647 (fasta)

Gene Model

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

AlphaFold

Q8BYM7

Predicted Effect

probably benign
Transcript: ENSMUST00000169670

SMART Domains

Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552

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: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,354 (GRCm39)	F168Y	probably damaging	Het
4932438H23Rik	T	C	16: 90,852,737 (GRCm39)	Y133C	probably damaging	Het
Aasdh	A	G	5: 77,039,641 (GRCm39)	S223P	possibly damaging	Het
Abca8a	T	C	11: 109,964,941 (GRCm39)	D453G	possibly damaging	Het
Acsl6	T	A	11: 54,236,728 (GRCm39)	F541I	probably damaging	Het
Agfg1	A	T	1: 82,860,110 (GRCm39)	K326*	probably null	Het
Aldh1l2	T	C	10: 83,344,541 (GRCm39)	N448S	probably benign	Het
Alx4	A	G	2: 93,473,355 (GRCm39)	K118E	possibly damaging	Het
Atp9b	T	A	18: 80,838,562 (GRCm39)	T451S		Het
B4galt6	A	T	18: 20,822,072 (GRCm39)	N307K	probably benign	Het
Cacna1s	G	A	1: 136,042,981 (GRCm39)	M1569I	probably benign	Het
Cacng6	C	T	7: 3,478,984 (GRCm39)	T121I	probably damaging	Het
Cdc5l	C	A	17: 45,744,467 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 110,027,860 (GRCm39)	D535V	probably damaging	Het
Chrnb3	T	C	8: 27,883,946 (GRCm39)	F228L	possibly damaging	Het
Clca3a1	A	T	3: 144,719,757 (GRCm39)	D404E	probably benign	Het
Commd8	G	A	5: 72,325,514 (GRCm39)		probably benign	Het
Cpn1	T	A	19: 43,954,615 (GRCm39)	Q337L	possibly damaging	Het
Dctn6	T	C	8: 34,557,933 (GRCm39)	T180A	probably benign	Het
Ddx60	A	G	8: 62,447,553 (GRCm39)	E1180G	possibly damaging	Het
Dock4	T	A	12: 40,856,884 (GRCm39)	L1239Q	probably damaging	Het
Dop1b	T	C	16: 93,556,550 (GRCm39)	I469T	probably benign	Het
Enpep	A	T	3: 129,115,052 (GRCm39)	I240N	possibly damaging	Het
Fat3	G	A	9: 15,941,280 (GRCm39)	T1337I	probably damaging	Het
Fbxw13	T	A	9: 109,010,469 (GRCm39)	M390L	probably benign	Het
Fgr	C	T	4: 132,713,609 (GRCm39)	P46S	probably benign	Het
Galnt1	T	A	18: 24,400,641 (GRCm39)	M249K	probably benign	Het
Gm40460	A	T	7: 141,794,555 (GRCm39)	C87*	probably null	Het
Hcn4	C	T	9: 58,760,705 (GRCm39)	R417C	unknown	Het
Insr	T	C	8: 3,205,679 (GRCm39)	N1370S	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,414,089 (GRCm39)	E722K		Het
Larp6	G	A	9: 60,620,682 (GRCm39)	G65E		Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Muc16	G	A	9: 18,555,496 (GRCm39)	T3599I	unknown	Het
Muc5b	T	C	7: 141,403,156 (GRCm39)	F706L	unknown	Het
Nbea	A	T	3: 55,712,720 (GRCm39)	M2119K	probably benign	Het
Or13a18	C	T	7: 140,190,616 (GRCm39)	P171L	probably damaging	Het
Or13a24	A	T	7: 140,154,224 (GRCm39)	T53S	probably benign	Het
Paip1	G	A	13: 119,574,553 (GRCm39)	V83I	probably damaging	Het
Pdcd1lg2	G	T	19: 29,423,318 (GRCm39)		probably null	Het
Pde7a	G	A	3: 19,281,858 (GRCm39)	A464V	probably benign	Het
Pfkfb2	A	G	1: 130,634,213 (GRCm39)	F155L	probably damaging	Het
Pimreg	A	G	11: 71,936,513 (GRCm39)	D192G	possibly damaging	Het
Prkd3	T	C	17: 79,282,193 (GRCm39)	D320G	probably damaging	Het
Rgs7	A	G	1: 174,980,730 (GRCm39)	V98A	probably benign	Het
Ric3	C	T	7: 108,637,688 (GRCm39)	G356D	probably benign	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sez6l	T	C	5: 112,622,910 (GRCm39)	T214A	probably damaging	Het
Sipa1l1	T	G	12: 82,409,871 (GRCm39)	V595G	probably damaging	Het
Spata31h1	T	A	10: 82,119,486 (GRCm39)	H4508L	probably damaging	Het
Spta1	G	T	1: 174,045,254 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,836,989 (GRCm39)		probably benign	Het
Syne1	T	G	10: 5,181,822 (GRCm39)	Q4171P	possibly damaging	Het
Tgfb2	G	A	1: 186,364,907 (GRCm39)	T232I	probably damaging	Het
Tmem175	A	G	5: 108,794,327 (GRCm39)	S486G	probably benign	Het
Tmprss15	A	G	16: 78,821,657 (GRCm39)	V466A	probably benign	Het
Treh	C	G	9: 44,595,800 (GRCm39)		probably benign	Het
Ttc14	A	G	3: 33,854,696 (GRCm39)	S8G	unknown	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Vmn1r44	T	C	6: 89,870,458 (GRCm39)	L68P	probably damaging	Het
Vmn2r37	T	G	7: 9,218,916 (GRCm39)	L489F	probably benign	Het
Vmn2r52	T	A	7: 9,892,734 (GRCm39)	T802S	probably damaging	Het
Wsb2	T	A	5: 117,508,769 (GRCm39)	F68I	probably benign	Het
Zbtb8os	T	C	4: 129,236,924 (GRCm39)	V113A	probably benign	Het
Zfp354a	A	T	11: 50,950,805 (GRCm39)		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
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
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'- TCCAAGCACAAAGGGCTGAG -3'
(R):5'- ACGTGTCAAATGCACTTATCTCAC -3'

Sequencing Primer
(F):5'- GCTGAGATTTGACCTTTTACAAGAGG -3'
(R):5'- ACATTTAGACAGGGTCCCACTGTG -3'

Posted On

2022-01-31