Mutagenetix > Incidental Mutation

Incidental Mutation 'R4906:Rsph6a'

378196

Institutional Source

Beutler Lab

Gene Symbol

Rsph6a

Ensembl Gene

ENSMUSG00000040866

Gene Name

radial spoke head 6 homolog A (Chlamydomonas)

Synonyms

RSP4, Rshl1

MMRRC Submission

042508-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19054690-19074447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19068072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 349 (C349S)

Ref Sequence

ENSEMBL: ENSMUSP00000076153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035521] [ENSMUST00000076887]

AlphaFold

Q8CDR2

Predicted Effect

probably benign
Transcript: ENSMUST00000035521
AA Change: C604S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: C604S

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:Radial_spoke	191	685	2.3e-200	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076887
AA Change: C349S

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866
AA Change: C349S

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:Radial_spoke	188	287	3e-18	PFAM
Pfam:Radial_spoke	285	433	4.6e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144991

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	T	C	7: 107,624,690		probably benign	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Adgrf2	T	C	17: 42,711,193	I247V	probably benign	Het
Adgrv1	A	G	13: 81,270,738		probably null	Het
Ankrd22	T	A	19: 34,149,352	K26I	possibly damaging	Het
Arhgap32	T	A	9: 32,245,256		probably null	Het
Armc10	A	G	5: 21,661,524	Y262C	probably damaging	Het
Arrb2	A	G	11: 70,439,899	D374G	probably benign	Het
Ascc3	C	T	10: 50,749,131	R1675C	probably damaging	Het
Atg5	T	C	10: 44,363,050	*276R	probably null	Het
Bcl11b	G	A	12: 107,916,709	T377M	probably damaging	Het
C1s2	C	A	6: 124,635,114	E104*	probably null	Het
Carf	A	T	1: 60,141,367	H316L	probably damaging	Het
Ccdc77	A	T	6: 120,334,835	I234N	probably damaging	Het
Cd300c2	A	T	11: 114,997,000	V192E	possibly damaging	Het
Cep72	G	A	13: 74,059,465	R62C	probably damaging	Het
Clasp1	T	A	1: 118,508,910	L308*	probably null	Het
Clec2g	A	G	6: 128,979,448	S25G	probably benign	Het
Cngb1	T	C	8: 95,251,973	M1046V	probably damaging	Het
Cobll1	A	T	2: 65,097,693	D1095E	probably benign	Het
Cpeb2	A	G	5: 43,244,662	H662R	possibly damaging	Het
Cps1	A	T	1: 67,139,763	T45S	probably benign	Het
Cspp1	A	G	1: 10,082,328	Q368R	possibly damaging	Het
Dcaf6	C	A	1: 165,411,463		probably null	Het
Dcst1	T	C	3: 89,350,507	Y652C	possibly damaging	Het
Elf5	T	G	2: 103,449,573	Y225*	probably null	Het
Ermap	A	C	4: 119,188,818		probably benign	Het
Fam186b	A	T	15: 99,271,321	V915D	probably damaging	Het
Fbxo34	C	A	14: 47,529,454	N90K	probably benign	Het
Flnc	A	G	6: 29,447,525	E1109G	probably damaging	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Gabpb2	A	G	3: 95,190,636	V242A	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gm14409	T	C	2: 177,265,430	T92A	possibly damaging	Het
Gm21798	A	T	15: 64,817,883		probably benign	Het
Gm765	A	T	6: 98,238,119	M181K	probably damaging	Het
Gpr179	A	T	11: 97,346,661	S345T	possibly damaging	Het
Gusb	A	T	5: 129,998,118	F377L	probably damaging	Het
Hnrnpu	T	C	1: 178,329,373		probably benign	Het
Htr3b	C	T	9: 48,937,048		probably null	Het
Iqub	A	T	6: 24,501,369	V194D	probably damaging	Het
Itga2b	A	G	11: 102,461,159	V504A	probably benign	Het
Itga4	T	A	2: 79,288,248	F430L	probably damaging	Het
Jcad	C	A	18: 4,673,762	P508H	probably damaging	Het
Jph1	T	C	1: 17,091,611	T276A	probably damaging	Het
Kansl2	A	G	15: 98,531,890	F87S	possibly damaging	Het
Kdm1b	T	C	13: 47,063,144		probably null	Het
Kif5b	C	T	18: 6,220,930	D393N	probably benign	Het
Kmt2d	A	T	15: 98,849,539		probably benign	Het
Krt75	A	G	15: 101,570,239	I320T	probably damaging	Het
Lipo5	T	C	19: 33,465,948	N156S	unknown	Het
Mblac2	A	C	13: 81,711,587	Q19P	probably null	Het
Mfsd4b3	T	C	10: 39,948,060	H68R	probably damaging	Het
Mzb1	A	T	18: 35,647,953		probably null	Het
Nup210l	T	A	3: 90,170,030	I891N	probably benign	Het
Nwd1	G	A	8: 72,672,213	R667Q	probably damaging	Het
Oas1h	C	T	5: 120,867,109	Q207*	probably null	Het
Olfr159	A	T	4: 43,770,476	F178L	possibly damaging	Het
Pcdh15	C	T	10: 74,504,793	R1120*	probably null	Het
Pfkl	A	G	10: 77,988,310	L748P	probably damaging	Het
Phldb2	T	A	16: 45,751,395	K473N	probably damaging	Het
Rapgef6	G	A	11: 54,552,836	V82I	probably damaging	Het
Rfc3	A	T	5: 151,647,495	L112Q	probably damaging	Het
Sec16a	A	T	2: 26,441,967		probably benign	Het
Sept14	T	A	5: 129,692,966	Y222F	probably benign	Het
Skor2	T	C	18: 76,860,295	S571P	possibly damaging	Het
Slc13a5	T	A	11: 72,257,418	M264L	probably damaging	Het
Slc45a3	T	A	1: 131,981,577	V504E	probably damaging	Het
Smg1	C	T	7: 118,152,408		probably benign	Het
Smim20	A	G	5: 53,277,161	N45S	probably null	Het
Spp2	A	T	1: 88,412,269	S111C	probably damaging	Het
Sspo	A	G	6: 48,465,730		probably null	Het
Sycp2	C	T	2: 178,403,657		probably null	Het
Tas2r113	A	G	6: 132,893,558	N183S	possibly damaging	Het
Tcaf2	A	T	6: 42,629,745	M425K	probably benign	Het
Tdrp	A	G	8: 13,953,845	V164A	possibly damaging	Het
Tmbim1	A	G	1: 74,289,409	F298S	probably damaging	Het
Tmem211	T	A	5: 113,238,170	M161K	probably benign	Het
Tmem89	A	G	9: 108,914,761		probably benign	Het
Trpm2	G	T	10: 77,932,189	C825*	probably null	Het
Tsc1	A	G	2: 28,675,189	E421G	possibly damaging	Het
Usp24	T	C	4: 106,388,637	I1364T	probably benign	Het
Vmn1r52	G	A	6: 90,178,948	G78E	possibly damaging	Het
Vmn2r73	T	G	7: 85,857,621	I828L	probably damaging	Het
Vwa5b1	A	T	4: 138,610,747	D87E	probably benign	Het
Zfp451	A	T	1: 33,805,384	D47E	probably damaging	Het
Zfp821	A	G	8: 109,724,209	E278G	probably damaging	Het
Zfp930	A	T	8: 69,228,945	T430S	probably benign	Het
Zfp994	G	T	17: 22,200,467	Y500*	probably null	Het
Zmat3	A	T	3: 32,343,687	I142N	probably damaging	Het
Zzef1	T	A	11: 72,901,388	I2266N	probably damaging	Het

Other mutations in Rsph6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Rsph6a	APN	7	19054868	nonsense	probably null
IGL01656:Rsph6a	APN	7	19054845	missense	probably benign	0.00
IGL02997:Rsph6a	APN	7	19054839	missense	probably benign	0.32
R0396:Rsph6a	UTSW	7	19074106	missense	probably damaging	1.00
R0467:Rsph6a	UTSW	7	19057669	missense	possibly damaging	0.95
R0545:Rsph6a	UTSW	7	19054946	nonsense	probably null
R0603:Rsph6a	UTSW	7	19065961	missense	possibly damaging	0.66
R0848:Rsph6a	UTSW	7	19057670	missense	probably benign	0.07
R1943:Rsph6a	UTSW	7	19074076	missense	probably damaging	1.00
R2133:Rsph6a	UTSW	7	19068106	missense	probably damaging	1.00
R3713:Rsph6a	UTSW	7	19057550	missense	probably damaging	0.98
R3762:Rsph6a	UTSW	7	19055331	missense	probably damaging	1.00
R3826:Rsph6a	UTSW	7	19057614	missense	probably damaging	1.00
R3827:Rsph6a	UTSW	7	19057614	missense	probably damaging	1.00
R3828:Rsph6a	UTSW	7	19057614	missense	probably damaging	1.00
R4355:Rsph6a	UTSW	7	19067078	splice site	probably null
R4429:Rsph6a	UTSW	7	19074063	missense	probably damaging	1.00
R4524:Rsph6a	UTSW	7	19066045	missense	probably damaging	1.00
R4799:Rsph6a	UTSW	7	19065858	nonsense	probably null
R4896:Rsph6a	UTSW	7	19057740	missense	possibly damaging	0.67
R5004:Rsph6a	UTSW	7	19057740	missense	possibly damaging	0.67
R5637:Rsph6a	UTSW	7	19054895	missense	probably benign
R6066:Rsph6a	UTSW	7	19065815	missense	probably damaging	1.00
R7013:Rsph6a	UTSW	7	19054895	missense	probably benign
R7193:Rsph6a	UTSW	7	19065647	missense	probably damaging	1.00
R7689:Rsph6a	UTSW	7	19068037	missense	possibly damaging	0.64
R8170:Rsph6a	UTSW	7	19057580	missense	probably damaging	1.00
R8177:Rsph6a	UTSW	7	19074239	missense	unknown
R8956:Rsph6a	UTSW	7	19065439	intron	probably benign
R9032:Rsph6a	UTSW	7	19065325	missense	probably damaging	1.00
R9085:Rsph6a	UTSW	7	19065325	missense	probably damaging	1.00
R9222:Rsph6a	UTSW	7	19068061	missense	possibly damaging	0.88
R9529:Rsph6a	UTSW	7	19065610	missense	probably benign	0.15
R9654:Rsph6a	UTSW	7	19065407	missense	probably damaging	0.99
R9672:Rsph6a	UTSW	7	19065917	missense	probably damaging	1.00
Z1177:Rsph6a	UTSW	7	19065931	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTTGAGACAAAGACTCTTTCTTGG -3'
(R):5'- GACTTGTCAGTCTTTTGAGAGAAAC -3'

Sequencing Primer
(F):5'- GTGAGTCCTAGCTCTTGCACG -3'
(R):5'- AACTATCATGGATCCTGGCAG -3'

Posted On

2016-04-15