Mutagenetix > Incidental Mutation

Incidental Mutation 'R5004:Rsph6a'

390062

Institutional Source

Beutler Lab

Gene Symbol

Rsph6a

Ensembl Gene

ENSMUSG00000040866

Gene Name

radial spoke head 6 homolog A (Chlamydomonas)

Synonyms

Rshl1, RSP4

MMRRC Submission

042597-MU

Accession Numbers

Essential gene?

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

Stock #

R5004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18788615-18808372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18791665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 278 (E278V)

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

possibly damaging
Transcript: ENSMUST00000035521
AA Change: E278V

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: E278V

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: E278V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866
AA Change: E278V

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

Meta Mutation Damage Score

0.1203

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	A	C	8: 13,605,927 (GRCm39)	D189E	possibly damaging	Het
Abca5	C	T	11: 110,170,202 (GRCm39)	E1298K	probably damaging	Het
Actg1	C	A	11: 120,238,986 (GRCm39)		probably benign	Het
Add2	A	G	6: 86,073,728 (GRCm39)	T206A	probably benign	Het
Alox12e	A	G	11: 70,212,330 (GRCm39)	V116A	probably benign	Het
Ankrd27	T	A	7: 35,307,800 (GRCm39)	D346E	probably damaging	Het
Arfgap3	T	A	15: 83,194,497 (GRCm39)	S391C	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Cars2	C	T	8: 11,568,956 (GRCm39)		probably null	Het
Cav3	A	G	6: 112,436,885 (GRCm39)	K38R	probably damaging	Het
Ccdc159	G	A	9: 21,844,241 (GRCm39)	R101H	probably damaging	Het
Cops7b	A	G	1: 86,515,132 (GRCm39)		probably benign	Het
Cyp4a12b	C	T	4: 115,295,310 (GRCm39)	T472I	probably benign	Het
Cyp4a32	T	C	4: 115,458,238 (GRCm39)	S23P	probably damaging	Het
Cyp4f13	T	G	17: 33,144,760 (GRCm39)	I275L	probably benign	Het
Dlgap1	T	A	17: 71,025,222 (GRCm39)		probably null	Het
Dnajc12	A	T	10: 63,222,486 (GRCm39)	I4L	probably benign	Het
Ephb2	T	A	4: 136,387,010 (GRCm39)	D739V	possibly damaging	Het
Fam169a	A	G	13: 97,234,100 (GRCm39)	Y124C	probably damaging	Het
Fbln5	T	A	12: 101,727,080 (GRCm39)	N303I	probably damaging	Het
Fdxr	T	C	11: 115,160,399 (GRCm39)	E352G	probably benign	Het
Fhad1	T	G	4: 141,729,910 (GRCm39)		probably null	Het
Fhod1	C	T	8: 106,063,577 (GRCm39)		probably benign	Het
Fndc7	G	A	3: 108,790,789 (GRCm39)	T79M	probably damaging	Het
Fry	A	G	5: 150,357,069 (GRCm39)	Q1872R	probably benign	Het
Gbx1	T	C	5: 24,709,837 (GRCm39)	H336R	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gpr15lg	A	T	14: 36,824,622 (GRCm39)	C60S	probably damaging	Het
Hacl1	C	A	14: 31,340,996 (GRCm39)	C346F	probably benign	Het
Hectd4	C	A	5: 121,466,262 (GRCm39)		probably null	Het
Hectd4	C	T	5: 121,467,628 (GRCm39)	P2526S	possibly damaging	Het
Il3ra	A	T	14: 14,355,381 (GRCm38)	E289D	probably benign	Het
Itih4	T	G	14: 30,614,629 (GRCm39)	L497R	probably damaging	Het
Kcnh3	A	T	15: 99,124,383 (GRCm39)	K91*	probably null	Het
Kiz	C	G	2: 146,811,899 (GRCm39)	D669E	possibly damaging	Het
Klhl30	T	A	1: 91,287,046 (GRCm39)		probably null	Het
Kndc1	C	A	7: 139,512,792 (GRCm39)	C1514*	probably null	Het
Lipo2	A	G	19: 33,699,076 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,279,268 (GRCm39)	D5921G	probably damaging	Het
Mau2	A	G	8: 70,478,537 (GRCm39)	Y394H	probably damaging	Het
Mctp1	T	A	13: 76,789,923 (GRCm39)	S50R	possibly damaging	Het
Mllt10	T	C	2: 18,175,079 (GRCm39)	Y3H	probably damaging	Het
Mon1b	T	C	8: 114,365,859 (GRCm39)	S396P	probably damaging	Het
Mrgpra4	A	C	7: 47,631,535 (GRCm39)	L22R	probably benign	Het
Msln	T	G	17: 25,973,193 (GRCm39)	M1L	possibly damaging	Het
Myh15	T	A	16: 48,952,411 (GRCm39)	I827N	probably damaging	Het
Myh7	T	C	14: 55,209,140 (GRCm39)	D1866G	probably damaging	Het
Myo5b	T	G	18: 74,877,844 (GRCm39)		probably null	Het
Nlrc5	T	G	8: 95,247,844 (GRCm39)		probably benign	Het
Nup210l	A	T	3: 90,087,472 (GRCm39)	R1082*	probably null	Het
Or12k7	A	G	2: 36,958,422 (GRCm39)	Y35C	probably damaging	Het
Or4f4b	G	A	2: 111,314,005 (GRCm39)	V105I	possibly damaging	Het
Or5p63	T	A	7: 107,811,323 (GRCm39)	K138*	probably null	Het
Or7e169	T	C	9: 19,757,398 (GRCm39)	I172M	probably benign	Het
Pi4ka	A	T	16: 17,195,033 (GRCm39)	C122S	probably damaging	Het
Pkd2l1	G	T	19: 44,138,016 (GRCm39)	A690E	probably benign	Het
Pramel22	T	C	4: 143,380,706 (GRCm39)	Q439R	probably benign	Het
Prickle2	A	T	6: 92,393,736 (GRCm39)	D312E	probably benign	Het
Prrc2a	T	A	17: 35,368,974 (GRCm39)	N2021Y	probably benign	Het
Prss3	T	C	6: 41,350,836 (GRCm39)	Y218C	probably damaging	Het
Psg20	T	C	7: 18,414,837 (GRCm39)	T350A	probably damaging	Het
Ptprg	A	T	14: 12,220,667 (GRCm38)	I1235F	probably damaging	Het
Ptprk	T	A	10: 28,462,059 (GRCm39)	D1181E	possibly damaging	Het
Rcc2	T	A	4: 140,444,977 (GRCm39)	S415T	possibly damaging	Het
Ripor1	CAA	CA	8: 106,345,452 (GRCm39)		probably null	Het
Rnf31	T	C	14: 55,829,639 (GRCm39)	L68P	probably damaging	Het
Rubcnl	C	T	14: 75,269,617 (GRCm39)	Q92*	probably null	Het
Scfd1	A	G	12: 51,491,777 (GRCm39)	R580G	probably benign	Het
Sec31a	A	T	5: 100,516,192 (GRCm39)	N967K	probably damaging	Het
Sema4b	C	A	7: 79,866,093 (GRCm39)	T154N	probably benign	Het
Septin14	T	A	5: 129,770,040 (GRCm39)	I219F	possibly damaging	Het
Serpinb9c	A	T	13: 33,334,338 (GRCm39)	S235T	probably benign	Het
Setd4	G	T	16: 93,388,133 (GRCm39)	H118N	probably benign	Het
Siglec1	C	T	2: 130,911,789 (GRCm39)	V1697M	probably benign	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Soat2	T	A	15: 102,069,546 (GRCm39)	H402Q	probably damaging	Het
Sp3	A	T	2: 72,768,633 (GRCm39)	V666D	probably benign	Het
Spef2	T	G	15: 9,578,413 (GRCm39)	S1704R	probably benign	Het
Spidr	A	T	16: 15,936,806 (GRCm39)	W100R	possibly damaging	Het
Steap1	G	T	5: 5,792,829 (GRCm39)	Y27*	probably null	Het
Svep1	G	T	4: 58,087,751 (GRCm39)	T1776K	probably benign	Het
Tdpoz1	T	A	3: 93,578,440 (GRCm39)	T115S	probably benign	Het
Tet2	A	T	3: 133,193,140 (GRCm39)	H431Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,611,872 (GRCm39)	V170G	probably benign	Het
Tom1	T	C	8: 75,778,630 (GRCm39)	L99P	probably damaging	Het
Trim11	C	A	11: 58,872,164 (GRCm39)		probably benign	Het
Trio	T	C	15: 27,755,264 (GRCm39)	K955R	probably damaging	Het
Tubd1	C	T	11: 86,452,146 (GRCm39)	T371I	probably damaging	Het
Usp17lb	C	T	7: 104,490,884 (GRCm39)	M13I	probably benign	Het
Usp29	A	G	7: 6,965,158 (GRCm39)	M334V	probably benign	Het
Usp34	A	G	11: 23,414,586 (GRCm39)	Y2843C	probably damaging	Het
Utp20	A	T	10: 88,584,135 (GRCm39)	I2674N	probably damaging	Het
Vmn2r14	T	G	5: 109,368,246 (GRCm39)	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,247,848 (GRCm39)	F772I	probably damaging	Het
Vmn2r51	T	A	7: 9,821,932 (GRCm39)	E584D	probably benign	Het
Zbtb22	G	T	17: 34,136,217 (GRCm39)	A121S	probably benign	Het
Zfp273	A	T	13: 67,973,673 (GRCm39)	H267L	probably damaging	Het
Zkscan2	C	T	7: 123,089,267 (GRCm39)	V335M	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
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
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'- GCTGACCAAGATCCTGAACC -3'
(R):5'- TGAGTGAACACACTTCCTCAC -3'

Sequencing Primer
(F):5'- ATCCTGAACCAGCGCCCTG -3'
(R):5'- AGCTCCTACAGGGCACAAGTG -3'

Posted On

2016-06-06