Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Rsph6a'

77420

Institutional Source

Beutler Lab

Gene Symbol

Rsph6a

Ensembl Gene

ENSMUSG00000040866

Gene Name

radial spoke head 6 homolog A (Chlamydomonas)

Synonyms

Rshl1, RSP4

MMRRC Submission

039027-MU

Accession Numbers

Essential gene?

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

Stock #

R0848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18788615-18808372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18791595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 255 (D255N)

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 benign
Transcript: ENSMUST00000035521
AA Change: D255N

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: D255N

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: D255N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866
AA Change: D255N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148861

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,984 (GRCm39)	H181Q	probably damaging	Het
Abca13	T	A	11: 9,632,011 (GRCm39)	L4977*	probably null	Het
Abca8a	T	A	11: 109,919,016 (GRCm39)	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,022,584 (GRCm39)	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,681,753 (GRCm39)		probably benign	Het
Anks1b	A	C	10: 89,906,987 (GRCm39)	E268A	probably damaging	Het
C1rl	A	G	6: 124,485,465 (GRCm39)	T279A	probably benign	Het
C5ar2	T	C	7: 15,971,526 (GRCm39)	T134A	probably benign	Het
Cdkl3	G	A	11: 51,902,094 (GRCm39)	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,321,654 (GRCm39)	F386Y	probably benign	Het
Chd1	C	T	17: 15,990,503 (GRCm39)	P1685L	probably damaging	Het
Chrne	G	T	11: 70,506,239 (GRCm39)	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003 (GRCm39)	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,182,888 (GRCm39)	Y620H	probably benign	Het
Col6a1	A	G	10: 76,549,458 (GRCm39)		probably null	Het
Cyp2d26	T	A	15: 82,674,434 (GRCm39)	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dmac2l	A	T	12: 69,788,584 (GRCm39)	H161L	probably benign	Het
Eif1a	T	A	18: 46,741,114 (GRCm39)	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,477,684 (GRCm39)	C696S	probably benign	Het
Exoc7	A	G	11: 116,186,074 (GRCm39)	S376P	possibly damaging	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gimap7	T	C	6: 48,700,657 (GRCm39)	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 89,001,657 (GRCm39)	V171A	probably damaging	Het
Hax1	A	G	3: 89,902,940 (GRCm39)	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,526,671 (GRCm39)	D258E	probably damaging	Het
Kcnb1	G	T	2: 166,948,187 (GRCm39)	F220L	probably damaging	Het
Kif1a	T	A	1: 92,947,620 (GRCm39)	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,095,090 (GRCm39)	I379N	probably damaging	Het
Lpxn	A	G	19: 12,781,401 (GRCm39)	I40V	probably benign	Het
Lrp1	C	T	10: 127,389,231 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,515 (GRCm39)	R395H	probably benign	Het
Mindy4	G	A	6: 55,295,271 (GRCm39)	W737*	probably null	Het
Mki67	C	A	7: 135,302,772 (GRCm39)	R754L	probably benign	Het
Morf4l1	A	G	9: 89,982,502 (GRCm39)	V144A	probably benign	Het
Mvb12a	T	C	8: 71,998,422 (GRCm39)	S186P	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nipal1	A	G	5: 72,825,183 (GRCm39)	N292S	probably damaging	Het
Nqo2	T	G	13: 34,156,461 (GRCm39)		probably null	Het
Or14a256	T	C	7: 86,264,848 (GRCm39)	Y335C	probably damaging	Het
Or2d3b	A	G	7: 106,514,200 (GRCm39)	K265R	probably benign	Het
Or5ak24	A	T	2: 85,260,365 (GRCm39)	N269K	probably benign	Het
Or6c214	C	T	10: 129,591,077 (GRCm39)	V81I	probably benign	Het
Osbpl7	C	A	11: 96,951,350 (GRCm39)	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,400,475 (GRCm39)	G809S	probably benign	Het
Pcm1	T	C	8: 41,735,720 (GRCm39)	V846A	probably damaging	Het
Phf3	A	G	1: 30,902,253 (GRCm39)	L20P	probably damaging	Het
Pih1d1	A	G	7: 44,807,041 (GRCm39)	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,308,021 (GRCm39)		probably null	Het
Plvap	A	T	8: 71,959,526 (GRCm39)	L422Q	probably damaging	Het
Polq	C	T	16: 36,882,492 (GRCm39)	A1273V	probably benign	Het
Prelid2	T	A	18: 42,068,289 (GRCm39)	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,501,783 (GRCm39)	D8N	probably damaging	Het
Ptpra	T	A	2: 130,360,911 (GRCm39)	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,438,393 (GRCm39)	S151P	probably benign	Het
Serpinb6c	A	T	13: 34,083,288 (GRCm39)	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866 (GRCm39)	N22S	probably benign	Het
Snx5	G	A	2: 144,095,726 (GRCm39)	R312C	probably damaging	Het
Stard9	T	C	2: 120,526,304 (GRCm39)	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,144,733 (GRCm39)		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tlr12	A	G	4: 128,510,084 (GRCm39)	I722T	probably benign	Het
Tmem101	A	T	11: 102,046,692 (GRCm39)	M59K	possibly damaging	Het
Trim34a	C	T	7: 103,910,331 (GRCm39)	R378C	probably benign	Het
Trim35	T	A	14: 66,546,574 (GRCm39)	M447K	probably benign	Het
Trps1	C	A	15: 50,524,945 (GRCm39)	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 21,110,433 (GRCm39)	S161C	probably damaging	Het
Vps13a	A	C	19: 16,676,261 (GRCm39)	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,185,983 (GRCm39)	C671F	probably 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
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
R8170:Rsph6a	UTSW	7	18,791,505 (GRCm39)	missense	probably damaging	1.00
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'- AGGCACAAAACGTCAGGCTCAG -3'
(R):5'- GCTCCTAAACCTTGTGTGATGCCC -3'

Sequencing Primer
(F):5'- CTGACCAAGATCCTGAACCA -3'
(R):5'- AGGAACTGCTGTTCACACCTTAG -3'

Posted On

2013-10-16