Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01060:Rsph6a'

51411

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rsph6a

Ensembl Gene

ENSMUSG00000040866

Gene Name

radial spoke head 6 homolog A (Chlamydomonas)

Synonyms

RSP4, Rshl1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01060

Quality Score

Status

Chromosome

Chromosomal Location

19054690-19074447 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 19054868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 42 (R42*)

Ref Sequence

ENSEMBL: ENSMUSP00000076153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000035521] [ENSMUST00000076887] [ENSMUST00000146903]

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 null
Transcript: ENSMUST00000035521
AA Change: R42*

SMART Domains

Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: R42*

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 null
Transcript: ENSMUST00000076887
AA Change: R42*

SMART Domains

Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866
AA Change: R42*

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: ENSMUST00000138440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144991

Predicted Effect

probably benign
Transcript: ENSMUST00000146903

SMART Domains

Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
Pfam:DUF3453	117	230	1.1e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148861

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Anks4b	A	G	7: 120,173,925	T3A	possibly damaging	Het
Arhgef26	T	A	3: 62,340,121	S209T	probably benign	Het
Ccdc78	A	G	17: 25,788,832	D281G	probably damaging	Het
Ccnb3	A	T	X: 6,980,274	N1362K	probably benign	Het
Dnah2	T	C	11: 69,478,092	N1662S	possibly damaging	Het
Ern2	T	A	7: 122,170,092	R904W	probably damaging	Het
Fam120c	C	T	X: 151,469,587	P1045S	probably benign	Het
Gm12887	C	T	4: 121,616,413		probably benign	Het
Gpld1	G	A	13: 24,982,566	G627S	probably damaging	Het
Ikbkap	C	T	4: 56,784,537		probably null	Het
Krt77	T	A	15: 101,860,880		probably benign	Het
Ltf	A	T	9: 111,022,882		probably null	Het
Map3k6	G	T	4: 133,247,302		probably null	Het
Nsd1	G	A	13: 55,263,429	G1431D	probably damaging	Het
Plekhm2	C	T	4: 141,642,645		probably null	Het
Popdc2	T	A	16: 38,373,965	N249K	probably damaging	Het
Ppm1h	A	G	10: 122,907,571	D400G	possibly damaging	Het
Rps6ka1	A	T	4: 133,860,870	S320T	probably damaging	Het
Sap130	T	C	18: 31,715,443	L967P	probably damaging	Het
Smyd2	T	C	1: 189,897,470	E121G	possibly damaging	Het
Sspo	G	A	6: 48,449,479	W144*	probably null	Het
Taar6	A	G	10: 23,985,072	V192A	probably benign	Het
Tbc1d24	A	T	17: 24,185,828	V114E	probably damaging	Het
Trim16	T	C	11: 62,820,704	I67T	probably benign	Het
Ttll7	A	G	3: 146,909,582	D267G	possibly damaging	Het
Ttn	T	C	2: 76,889,729		probably benign	Het
Vmn2r56	T	A	7: 12,713,089	I379F	probably damaging	Het
Zfp14	T	C	7: 30,038,085	T492A	probably damaging	Het

Other mutations in Rsph6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4906:Rsph6a	UTSW	7	19068072	missense	possibly damaging	0.92
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

Posted On

2013-06-21