Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Rsph4a'

702776

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

Essential gene?

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

Stock #

R9269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33781107-33792017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33785394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 435 (V435E)

Ref Sequence

ENSEMBL: ENSMUSP00000131647 (fasta)

Gene Model

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

AlphaFold

Q8BYM7

Predicted Effect

probably benign
Transcript: ENSMUST00000169670
AA Change: V435E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552
AA Change: V435E

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: 99.6%
20x: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,637,865 (GRCm39)	S845P	probably benign	Het
Actn1	T	A	12: 80,219,745 (GRCm39)	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,216,006 (GRCm39)	Y64C	probably damaging	Het
Anapc4	T	A	5: 53,018,620 (GRCm39)	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,540,570 (GRCm39)	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,247,920 (GRCm39)	N335D	probably damaging	Het
Arrdc2	G	A	8: 71,288,973 (GRCm39)	A354V	probably benign	Het
Atg2b	A	G	12: 105,618,359 (GRCm39)	S898P	probably damaging	Het
Atxn1	T	A	13: 45,710,680 (GRCm39)	T751S	probably benign	Het
Begain	T	A	12: 108,999,119 (GRCm39)	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,594,521 (GRCm39)	D15E	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Card11	A	T	5: 140,892,516 (GRCm39)	M183K	probably damaging	Het
Cldn3	T	C	5: 135,015,579 (GRCm39)	L94P	probably damaging	Het
Clvs2	A	T	10: 33,419,422 (GRCm39)	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cop1	C	T	1: 159,116,553 (GRCm39)	P409L	probably benign	Het
Cplane1	A	C	15: 8,248,500 (GRCm39)	Q1683P	probably damaging	Het
Crhbp	C	A	13: 95,573,024 (GRCm39)	A241S	probably benign	Het
Cyfip1	C	A	7: 55,557,179 (GRCm39)	S794*	probably null	Het
Dlg5	T	A	14: 24,242,881 (GRCm39)	H172L	probably damaging	Het
Doc2a	T	A	7: 126,450,159 (GRCm39)	I199N	probably benign	Het
Dock3	T	C	9: 106,818,522 (GRCm39)	T1191A	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Eif4a3l2	C	T	6: 116,529,317 (GRCm39)	T398I	probably damaging	Het
Fcgr1	C	T	3: 96,193,154 (GRCm39)	R281H	probably benign	Het
Fndc10	T	C	4: 155,779,205 (GRCm39)	V83A	possibly damaging	Het
Galnt2	T	A	8: 125,065,202 (GRCm39)	I444K	probably benign	Het
Gcnt3	T	C	9: 69,941,290 (GRCm39)	Y426C	probably damaging	Het
Gtpbp1	C	T	15: 79,601,855 (GRCm39)	R533C	probably damaging	Het
Hid1	T	C	11: 115,252,502 (GRCm39)	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,884,161 (GRCm39)	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ilrun	A	C	17: 28,005,049 (GRCm39)	Y169*	probably null	Het
Klf10	A	G	15: 38,298,002 (GRCm39)	L44P	probably damaging	Het
Lamc3	T	C	2: 31,813,017 (GRCm39)	V1001A	probably benign	Het
Lamc3	C	A	2: 31,818,908 (GRCm39)	S1211*	probably null	Het
Lmx1a	T	A	1: 167,658,194 (GRCm39)	H192Q	probably benign	Het
Nkx2-4	T	C	2: 146,926,184 (GRCm39)	H226R	possibly damaging	Het
Or2d2	T	C	7: 106,727,833 (GRCm39)	I256V	probably benign	Het
Or4a68	T	A	2: 89,270,276 (GRCm39)	M116L	probably damaging	Het
Or4k37	T	C	2: 111,159,297 (GRCm39)	F178L	probably damaging	Het
Or4p18	G	A	2: 88,232,586 (GRCm39)	R231C	probably benign	Het
Or5b101	T	C	19: 13,004,994 (GRCm39)	H233R	probably benign	Het
Or5b114-ps1	A	T	19: 13,353,004 (GRCm39)	N226I	unknown	Het
Or5p52	T	A	7: 107,502,527 (GRCm39)	I201N	possibly damaging	Het
Or7e175	T	C	9: 20,048,757 (GRCm39)	M115T	probably damaging	Het
Or8k1	T	C	2: 86,047,247 (GRCm39)	H269R	probably damaging	Het
Orai3	G	T	7: 127,373,194 (GRCm39)	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,162,727 (GRCm39)	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,001,975 (GRCm39)	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,256,064 (GRCm39)	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,891,797 (GRCm39)	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	T	C	6: 89,306,541 (GRCm39)	R1430G	probably null	Het
Plxna4	T	C	6: 32,155,315 (GRCm39)	H1543R	probably benign	Het
Prcc	A	T	3: 87,777,038 (GRCm39)	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,787,388 (GRCm39)	L988P	probably damaging	Het
Rbm27	A	G	18: 42,460,572 (GRCm39)	T840A	probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Rmi1	C	T	13: 58,556,840 (GRCm39)	T363I	probably benign	Het
Rnpc3	A	C	3: 113,404,895 (GRCm39)	I420S	probably damaging	Het
Rwdd1	T	C	10: 33,888,095 (GRCm39)	T38A	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Sel1l3	T	C	5: 53,311,628 (GRCm39)	Y619C	probably damaging	Het
Sf3b3	T	C	8: 111,538,658 (GRCm39)	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,942,534 (GRCm39)	V102A	probably benign	Het
Sh2b1	T	C	7: 126,068,354 (GRCm39)	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,766,981 (GRCm39)	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,266,223 (GRCm39)	V889A	possibly damaging	Het
Spast	C	A	17: 74,646,069 (GRCm39)	S13*	probably null	Het
Srek1	T	C	13: 103,889,654 (GRCm39)		probably null	Het
Sugp1	G	T	8: 70,509,220 (GRCm39)	E164D	probably benign	Het
Synpo2	T	C	3: 122,910,973 (GRCm39)	D224G	probably benign	Het
Tanc1	A	G	2: 59,630,432 (GRCm39)	D804G	probably damaging	Het
Tep1	C	T	14: 51,081,766 (GRCm39)	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,341 (GRCm39)	C325S	probably benign	Het
Themis	T	C	10: 28,739,390 (GRCm39)	V620A	probably benign	Het
Trim17	T	C	11: 58,862,257 (GRCm39)	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,445,693 (GRCm39)	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955 (GRCm39)	S928P	unknown	Het
Vat1l	C	T	8: 115,016,172 (GRCm39)	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,306,263 (GRCm39)	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,820,213 (GRCm39)	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,400,411 (GRCm39)	I213V	probably benign	Het
Wdr89	T	A	12: 75,679,564 (GRCm39)	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,023,283 (GRCm39)	T334A	probably benign	Het
Zfp442	T	A	2: 150,251,287 (GRCm39)	H205L	probably benign	Het
Zfyve26	A	T	12: 79,323,076 (GRCm39)	I890N	possibly damaging	Het
Zic1	T	C	9: 91,246,373 (GRCm39)	E233G	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
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
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'- CAAGATCTTGGGTCTGGAAATG -3'
(R):5'- TGAAATGCGGGCAATTTGTG -3'

Sequencing Primer
(F):5'- GGTCTGGAAATGAACTATATTGTTGC -3'
(R):5'- ATTTGTGCTCTTAAGTAATTGCTCTC -3'

Posted On

2022-03-25