Mutagenetix > Incidental Mutation

Incidental Mutation 'R3713:Rsph6a'

259737

Institutional Source

Beutler Lab

Gene Symbol

Rsph6a

Ensembl Gene

ENSMUSG00000040866

Gene Name

radial spoke head 6 homolog A (Chlamydomonas)

Synonyms

Rshl1, RSP4

MMRRC Submission

040706-MU

Accession Numbers

Essential gene?

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

Stock #

R3713 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

18788615-18808372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18791475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 215 (V215M)

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: V215M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: V215M

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: V215M

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866
AA Change: V215M

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

0.0763

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

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
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
Aak1	T	A	6: 86,932,172 (GRCm39)	I381N	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adgrf2	A	G	17: 43,023,979 (GRCm39)	V164A	probably damaging	Het
Ahdc1	G	A	4: 132,793,297 (GRCm39)	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,235,929 (GRCm39)	M168T	probably damaging	Het
Aox1	C	T	1: 58,095,374 (GRCm39)	T196I	probably benign	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Astn1	A	G	1: 158,495,102 (GRCm39)	E1042G	possibly damaging	Het
Azi2	A	G	9: 117,876,508 (GRCm39)	D8G	possibly damaging	Het
Bcam	T	C	7: 19,498,118 (GRCm39)	T302A	probably benign	Het
Cct6b	A	T	11: 82,651,183 (GRCm39)	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Ceacam5	G	A	7: 17,493,263 (GRCm39)	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,735,221 (GRCm39)	L819P	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Chd2	A	G	7: 73,121,538 (GRCm39)		probably benign	Het
Col7a1	G	T	9: 108,793,508 (GRCm39)	G1357*	probably null	Het
Cux1	A	G	5: 136,594,397 (GRCm39)		probably benign	Het
Cwh43	A	T	5: 73,595,835 (GRCm39)	I535F	probably damaging	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dnah12	T	C	14: 26,534,747 (GRCm39)	V2081A	probably benign	Het
Efcab5	A	T	11: 77,007,008 (GRCm39)	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,881,344 (GRCm39)	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,349,548 (GRCm39)	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,122,186 (GRCm39)	M1T	probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Galp	A	T	7: 6,216,836 (GRCm39)	D72V	probably damaging	Het
Gm9843	A	G	16: 76,200,419 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,732,076 (GRCm39)	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,344,776 (GRCm39)	Y437S	probably benign	Het
Macc1	A	G	12: 119,410,576 (GRCm39)	E448G	probably benign	Het
Madcam1	A	G	10: 79,504,194 (GRCm39)	H404R	probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,973,131 (GRCm39)	I1045V	probably benign	Het
Mroh3	T	C	1: 136,113,714 (GRCm39)	T692A	probably benign	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Naip2	A	G	13: 100,298,410 (GRCm39)	F542S	probably damaging	Het
Napsa	A	G	7: 44,230,852 (GRCm39)	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Neil1	A	T	9: 57,054,254 (GRCm39)	V22E	probably damaging	Het
Nol4	T	C	18: 23,172,994 (GRCm39)	I36V	probably damaging	Het
Nprl3	G	A	11: 32,205,464 (GRCm39)	T111I	probably damaging	Het
Or12k8	A	G	2: 36,975,517 (GRCm39)	M81T	possibly damaging	Het
Or1e26	A	T	11: 73,479,731 (GRCm39)	Y278N	probably damaging	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Pald1	G	A	10: 61,178,144 (GRCm39)	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,576,786 (GRCm39)	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,840,976 (GRCm39)	V232A	probably damaging	Het
Pde6b	A	G	5: 108,570,928 (GRCm39)	I388V	probably damaging	Het
Phactr2	C	A	10: 13,264,476 (GRCm39)		probably benign	Het
Prdx5	T	C	19: 6,885,477 (GRCm39)	D56G	probably damaging	Het
Ptprh	A	T	7: 4,574,969 (GRCm39)	I350N	probably damaging	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Reln	A	G	5: 22,109,732 (GRCm39)	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,771,847 (GRCm39)	G59S	possibly damaging	Het
Smcp	T	C	3: 92,491,431 (GRCm39)	K139E	unknown	Het
Stag1	A	G	9: 100,771,671 (GRCm39)	T699A	probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tle1	G	T	4: 72,044,659 (GRCm39)	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,321,081 (GRCm39)	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 11,910,139 (GRCm39)	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,077,648 (GRCm39)	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,600,880 (GRCm39)	M292T	probably benign	Het
Zfp108	T	A	7: 23,961,270 (GRCm39)	C620*	probably null	Het
Zscan4b	T	C	7: 10,635,818 (GRCm39)	T170A	probably benign	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
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'- TGTGTCTGTCATCCGAATGCC -3'
(R):5'- ACTGGCTTTGGCATAGGCTG -3'

Sequencing Primer
(F):5'- CACTTGCACCAGATCAGGG -3'
(R):5'- TTCTCCTCCACCCCTGATAAACAG -3'

Posted On

2015-01-23