Mutagenetix > Incidental Mutation

Incidental Mutation 'R8170:Rsph6a'

634038

Institutional Source

Beutler Lab

Gene Symbol

Rsph6a

Ensembl Gene

ENSMUSG00000040866

Gene Name

radial spoke head 6 homolog A (Chlamydomonas)

Synonyms

Rshl1, RSP4

MMRRC Submission

067596-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18788615-18808372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 18791505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 225 (R225S)

Ref Sequence

ENSEMBL: ENSMUSP00000046526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000035521] [ENSMUST00000076887]

AlphaFold

Q8CDR2

Predicted Effect

probably benign
Transcript: ENSMUST00000023882

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
low complexity region	106	118	N/A	INTRINSIC
Pfam:DUF3453	119	352	1.1e-63	PFAM
low complexity region	473	485	N/A	INTRINSIC
Pfam:Symplekin_C	887	1068	4.3e-78	PFAM
low complexity region	1123	1149	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000035521
AA Change: R225S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: R225S

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

probably benign
Transcript: ENSMUST00000076887
AA Change: R225S

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

SMART Domains

Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866
AA Change: R225S

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

probably benign
Transcript: ENSMUST00000130328

SMART Domains

Protein: ENSMUSP00000115900
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
Pfam:Symplekin_C	1	92	3.9e-44	PFAM
low complexity region	125	143	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (76/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,411,713 (GRCm39)	V595A	probably benign	Het
A430033K04Rik	A	G	5: 138,645,315 (GRCm39)	E400G	possibly damaging	Het
Abca16	C	T	7: 120,065,005 (GRCm39)	T554I	probably damaging	Het
Acadm	T	A	3: 153,650,035 (GRCm39)	R10W	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef25	A	G	10: 127,023,048 (GRCm39)	W120R	probably damaging	Het
Atg7	A	T	6: 114,678,151 (GRCm39)	Q347L	probably benign	Het
Atl2	T	C	17: 80,163,690 (GRCm39)	I316V	possibly damaging	Het
B4galnt3	A	T	6: 120,183,577 (GRCm39)		probably null	Het
Baiap2l1	A	T	5: 144,214,502 (GRCm39)	Y397*	probably null	Het
Cacna1b	A	G	2: 24,568,886 (GRCm39)		probably null	Het
Capn10	T	C	1: 92,862,686 (GRCm39)	S31P	probably damaging	Het
Casp8ap2	C	T	4: 32,615,490 (GRCm39)		probably benign	Het
Ccdc122	A	T	14: 77,329,318 (GRCm39)	I124L	probably benign	Het
Ccdc90b	A	G	7: 92,210,750 (GRCm39)	S3G	probably benign	Het
Cdc14b	A	T	13: 64,363,549 (GRCm39)		probably null	Het
Chd5	T	A	4: 152,461,040 (GRCm39)	M1210K	probably benign	Het
Clec18a	T	G	8: 111,807,551 (GRCm39)	K133T	probably damaging	Het
Cog4	T	A	8: 111,592,663 (GRCm39)	M413K	probably damaging	Het
Cpa5	A	T	6: 30,624,594 (GRCm39)	I145L	probably benign	Het
Ctdspl2	T	G	2: 121,837,423 (GRCm39)	S397A	probably benign	Het
Dnah8	T	A	17: 30,892,797 (GRCm39)	I794N	probably damaging	Het
Ednrb	T	A	14: 104,060,640 (GRCm39)	T218S	possibly damaging	Het
Eif3b	T	A	5: 140,412,530 (GRCm39)		probably null	Het
Fanci	A	C	7: 79,083,305 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,161,281 (GRCm39)	V3150M	probably damaging	Het
Fat3	T	C	9: 15,858,792 (GRCm39)	Y3808C	probably damaging	Het
Gabrr1	T	A	4: 33,162,718 (GRCm39)	L428Q	probably damaging	Het
Garnl3	G	C	2: 32,905,235 (GRCm39)	P488R	possibly damaging	Het
Gli3	T	C	13: 15,894,793 (GRCm39)	S656P	probably benign	Het
Gpr153	T	C	4: 152,364,634 (GRCm39)	I230T	probably damaging	Het
Hoxc6	A	G	15: 102,918,293 (GRCm39)	N86D	probably benign	Het
Iqch	T	G	9: 63,336,312 (GRCm39)	R985S	probably damaging	Het
Jun	T	A	4: 94,938,559 (GRCm39)	N317I	probably damaging	Het
Kif26a	T	G	12: 112,141,752 (GRCm39)		probably null	Het
Map4k3	T	C	17: 80,913,289 (GRCm39)	H627R	possibly damaging	Het
Misp	T	A	10: 79,662,300 (GRCm39)	I239N	probably benign	Het
Mpzl2	T	A	9: 44,955,019 (GRCm39)	V27E	probably damaging	Het
Mta3	T	C	17: 84,099,090 (GRCm39)	S385P	probably damaging	Het
Muc5b	G	A	7: 141,414,737 (GRCm39)	S2561N	unknown	Het
Myh8	A	G	11: 67,179,092 (GRCm39)	H495R	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp5	A	T	7: 23,133,135 (GRCm39)	T927S	probably benign	Het
Nr5a2	T	A	1: 136,868,385 (GRCm39)	D310V	probably benign	Het
Nrbp1	A	G	5: 31,403,147 (GRCm39)	T207A	probably damaging	Het
Nxf1	G	T	19: 8,748,414 (GRCm39)	L14F	probably benign	Het
Or2a25	G	A	6: 42,889,125 (GRCm39)	A223T	possibly damaging	Het
Or6c207	T	A	10: 129,104,917 (GRCm39)	N92Y	possibly damaging	Het
Pcdhb15	A	G	18: 37,608,637 (GRCm39)	E623G	probably damaging	Het
Pid1	T	C	1: 84,262,721 (GRCm39)		probably null	Het
Plcb2	C	A	2: 118,541,934 (GRCm39)	R892L	possibly damaging	Het
Polr1a	C	G	6: 71,897,733 (GRCm39)	P243A	probably benign	Het
Pot1a	A	G	6: 25,758,802 (GRCm39)	*326Q	probably null	Het
Ppp5c	G	T	7: 16,741,071 (GRCm39)	F335L	probably damaging	Het
Prl8a2	T	C	13: 27,536,794 (GRCm39)	Y139H	probably benign	Het
Rogdi	G	T	16: 4,829,601 (GRCm39)	R93S	probably benign	Het
Septin8	T	C	11: 53,428,684 (GRCm39)	S408P	possibly damaging	Het
Sf3a2	T	A	10: 80,639,131 (GRCm39)		probably null	Het
Shank3	T	C	15: 89,433,043 (GRCm39)	S1263P	possibly damaging	Het
Speer4f2	A	C	5: 17,579,459 (GRCm39)	D86A		Het
Spmip8	A	T	8: 96,046,686 (GRCm39)	I120F	probably damaging	Het
Stard9	T	C	2: 120,530,529 (GRCm39)	F2262S	possibly damaging	Het
Svep1	T	A	4: 58,069,378 (GRCm39)	I2803F	probably benign	Het
Taf1c	C	T	8: 120,329,565 (GRCm39)		probably null	Het
Tasor2	G	A	13: 3,624,881 (GRCm39)	Q1690*	probably null	Het
Tfap2a	C	T	13: 40,872,744 (GRCm39)	V317I	probably benign	Het
Thnsl2	T	C	6: 71,106,317 (GRCm39)	T370A	probably benign	Het
Tmem201	C	T	4: 149,803,177 (GRCm39)	G564S	probably benign	Het
Ttc41	A	C	10: 86,612,030 (GRCm39)	E1101A	probably damaging	Het
Ugcg	T	A	4: 59,211,974 (GRCm39)	F113L	possibly damaging	Het
Unc80	G	T	1: 66,690,692 (GRCm39)	V2456L	probably benign	Het
Vav3	A	T	3: 109,331,323 (GRCm39)	N74I	probably damaging	Het
Vmn2r25	T	A	6: 123,829,976 (GRCm39)	R58S	probably benign	Het
Wdr97	C	A	15: 76,247,819 (GRCm39)	F1614L		Het
Ylpm1	T	A	12: 85,080,801 (GRCm39)	M1499K	probably benign	Het
Zfp647	A	G	15: 76,795,571 (GRCm39)	V363A	possibly damaging	Het

Other mutations in Rsph6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Rsph6a	APN	7	18,788,793 (GRCm39)	nonsense	probably null
IGL01656:Rsph6a	APN	7	18,788,770 (GRCm39)	missense	probably benign	0.00
IGL02997:Rsph6a	APN	7	18,788,764 (GRCm39)	missense	probably benign	0.32
R0396:Rsph6a	UTSW	7	18,808,031 (GRCm39)	missense	probably damaging	1.00
R0467:Rsph6a	UTSW	7	18,791,594 (GRCm39)	missense	possibly damaging	0.95
R0545:Rsph6a	UTSW	7	18,788,871 (GRCm39)	nonsense	probably null
R0603:Rsph6a	UTSW	7	18,799,886 (GRCm39)	missense	possibly damaging	0.66
R0848:Rsph6a	UTSW	7	18,791,595 (GRCm39)	missense	probably benign	0.07
R1943:Rsph6a	UTSW	7	18,808,001 (GRCm39)	missense	probably damaging	1.00
R2133:Rsph6a	UTSW	7	18,802,031 (GRCm39)	missense	probably damaging	1.00
R3713:Rsph6a	UTSW	7	18,791,475 (GRCm39)	missense	probably damaging	0.98
R3762:Rsph6a	UTSW	7	18,789,256 (GRCm39)	missense	probably damaging	1.00
R3826:Rsph6a	UTSW	7	18,791,539 (GRCm39)	missense	probably damaging	1.00
R3827:Rsph6a	UTSW	7	18,791,539 (GRCm39)	missense	probably damaging	1.00
R3828:Rsph6a	UTSW	7	18,791,539 (GRCm39)	missense	probably damaging	1.00
R4355:Rsph6a	UTSW	7	18,801,003 (GRCm39)	splice site	probably null
R4429:Rsph6a	UTSW	7	18,807,988 (GRCm39)	missense	probably damaging	1.00
R4524:Rsph6a	UTSW	7	18,799,970 (GRCm39)	missense	probably damaging	1.00
R4799:Rsph6a	UTSW	7	18,799,783 (GRCm39)	nonsense	probably null
R4896:Rsph6a	UTSW	7	18,791,665 (GRCm39)	missense	possibly damaging	0.67
R4906:Rsph6a	UTSW	7	18,801,997 (GRCm39)	missense	possibly damaging	0.92
R5004:Rsph6a	UTSW	7	18,791,665 (GRCm39)	missense	possibly damaging	0.67
R5637:Rsph6a	UTSW	7	18,788,820 (GRCm39)	missense	probably benign
R6066:Rsph6a	UTSW	7	18,799,740 (GRCm39)	missense	probably damaging	1.00
R7013:Rsph6a	UTSW	7	18,788,820 (GRCm39)	missense	probably benign
R7193:Rsph6a	UTSW	7	18,799,572 (GRCm39)	missense	probably damaging	1.00
R7689:Rsph6a	UTSW	7	18,801,962 (GRCm39)	missense	possibly damaging	0.64
R8177:Rsph6a	UTSW	7	18,808,164 (GRCm39)	missense	unknown
R8956:Rsph6a	UTSW	7	18,799,364 (GRCm39)	intron	probably benign
R9032:Rsph6a	UTSW	7	18,799,250 (GRCm39)	missense	probably damaging	1.00
R9085:Rsph6a	UTSW	7	18,799,250 (GRCm39)	missense	probably damaging	1.00
R9222:Rsph6a	UTSW	7	18,801,986 (GRCm39)	missense	possibly damaging	0.88
R9529:Rsph6a	UTSW	7	18,799,535 (GRCm39)	missense	probably benign	0.15
R9654:Rsph6a	UTSW	7	18,799,332 (GRCm39)	missense	probably damaging	0.99
R9672:Rsph6a	UTSW	7	18,799,842 (GRCm39)	missense	probably damaging	1.00
Z1177:Rsph6a	UTSW	7	18,799,856 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTTGCACCAGATCAGGGAC -3'
(R):5'- ACTGGCTTTGGCATAGGCTG -3'

Sequencing Primer
(F):5'- ACCAGATCAGGGACATTGTCTGTTC -3'
(R):5'- TCTGCCCACACCAGCTC -3'

Posted On

2020-07-13