Mutagenetix > Incidental Mutation

Incidental Mutation 'R4896:Rsph6a'

377639

Institutional Source

Beutler Lab

Gene Symbol

Rsph6a

Ensembl Gene

ENSMUSG00000040866

Gene Name

radial spoke head 6 homolog A (Chlamydomonas)

Synonyms

Rshl1, RSP4

MMRRC Submission

042500-MU

Accession Numbers

Essential gene?

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

Stock #

R4896 (G1)

Quality Score

212

Status

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: 96.7%
20x: 93.5%

Validation Efficiency

99% (101/102)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,957,267 (GRCm39)	V132A	possibly damaging	Het
Acp3	A	T	9: 104,184,174 (GRCm39)	V292E	probably damaging	Het
Adamts10	T	C	17: 33,747,870 (GRCm39)	V102A	possibly damaging	Het
Add2	A	G	6: 86,073,728 (GRCm39)	T206A	probably benign	Het
Alg12	A	T	15: 88,700,391 (GRCm39)	L15Q	probably damaging	Het
Ankrd27	T	A	7: 35,307,800 (GRCm39)	D346E	probably damaging	Het
Armc2	A	T	10: 41,799,790 (GRCm39)	N689K	probably damaging	Het
Best3	T	A	10: 116,860,460 (GRCm39)	D573E	probably benign	Het
Bltp1	T	G	3: 37,020,086 (GRCm39)	N2108K	probably damaging	Het
Ccdc80	A	T	16: 44,916,261 (GRCm39)	Q339L	probably benign	Het
Cdh9	T	C	15: 16,778,242 (GRCm39)	V19A	probably benign	Het
Cimap1a	G	A	7: 140,428,398 (GRCm39)		probably benign	Het
Cnksr1	A	T	4: 133,956,986 (GRCm39)		probably null	Het
Col7a1	T	A	9: 108,786,345 (GRCm39)	V525E	unknown	Het
Cplane1	T	C	15: 8,251,421 (GRCm39)	S1898P	probably benign	Het
Crebrf	T	C	17: 26,961,394 (GRCm39)	S172P	possibly damaging	Het
Csmd1	T	C	8: 16,059,439 (GRCm39)	I2099V	probably benign	Het
Dcaf4	T	A	12: 83,586,233 (GRCm39)	M400K	possibly damaging	Het
Dnah11	A	T	12: 117,958,935 (GRCm39)	F2983I	probably damaging	Het
Dock6	A	G	9: 21,735,733 (GRCm39)	V1005A	possibly damaging	Het
Dyrk2	C	A	10: 118,704,153 (GRCm39)	G34C	probably damaging	Het
Eif4a1	A	T	11: 69,559,423 (GRCm39)		probably benign	Het
Eno4	G	T	19: 58,952,975 (GRCm39)	D330Y	probably damaging	Het
Faf1	G	A	4: 109,699,496 (GRCm39)	C347Y	probably benign	Het
Fam169a	A	G	13: 97,234,100 (GRCm39)	Y124C	probably damaging	Het
Fam227a	G	T	15: 79,521,255 (GRCm39)	F269L	probably benign	Het
Fancm	C	A	12: 65,122,605 (GRCm39)	D42E	probably damaging	Het
Fat1	T	A	8: 45,404,317 (GRCm39)	I356N	possibly damaging	Het
Fer1l6	A	T	15: 58,509,869 (GRCm39)	T1444S	probably damaging	Het
Galr1	A	G	18: 82,412,065 (GRCm39)	L267P	probably damaging	Het
Gbx1	T	C	5: 24,709,837 (GRCm39)	H336R	probably damaging	Het
Gimap8	A	T	6: 48,636,281 (GRCm39)	Q682L	possibly damaging	Het
Gm2396	T	G	9: 88,813,281 (GRCm39)		noncoding transcript	Het
Gm5798	T	C	14: 41,070,614 (GRCm39)	L8S	probably damaging	Het
Hmgcll1	C	T	9: 75,963,460 (GRCm39)	S39F	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Il3ra	A	T	14: 14,355,381 (GRCm38)	E289D	probably benign	Het
Isoc1	T	A	18: 58,806,350 (GRCm39)	L220Q	probably damaging	Het
Itga2	T	A	13: 114,990,302 (GRCm39)	K918*	probably null	Het
Kat6a	C	T	8: 23,428,329 (GRCm39)	T1228I	probably benign	Het
Klhl30	T	A	1: 91,287,046 (GRCm39)		probably null	Het
Krtap6-2	A	T	16: 89,216,806 (GRCm39)	C54S	unknown	Het
Lmf2	G	A	15: 89,236,003 (GRCm39)	P634S	probably benign	Het
Map3k4	A	G	17: 12,490,906 (GRCm39)	V175A	possibly damaging	Het
Mcm3	A	C	1: 20,890,480 (GRCm39)		probably benign	Het
Mon1b	T	C	8: 114,365,859 (GRCm39)	S396P	probably damaging	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Ncor2	A	G	5: 125,126,404 (GRCm39)		probably null	Het
Nlrc5	T	G	8: 95,247,844 (GRCm39)		probably benign	Het
Nlrp14	GT	GTT	7: 106,796,386 (GRCm39)		probably null	Het
Nwd2	T	G	5: 63,962,151 (GRCm39)	S578R	probably damaging	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
Otoa	C	A	7: 120,701,902 (GRCm39)	P194T	probably damaging	Het
Pde1b	A	C	15: 103,429,801 (GRCm39)	D98A	probably damaging	Het
Pi4ka	A	T	16: 17,195,033 (GRCm39)	C122S	probably damaging	Het
Pole2	C	T	12: 69,269,924 (GRCm39)	V67M	probably damaging	Het
Prickle2	A	T	6: 92,393,736 (GRCm39)	D312E	probably benign	Het
Prkd1	T	C	12: 50,436,745 (GRCm39)	D453G	probably damaging	Het
Prrc1	T	A	18: 57,507,626 (GRCm39)	V260E	probably damaging	Het
Reg3g	A	T	6: 78,444,793 (GRCm39)	Y62N	probably benign	Het
Reln	C	T	5: 22,160,236 (GRCm39)	G2111E	probably damaging	Het
Scpep1	T	A	11: 88,832,122 (GRCm39)	I203F	probably damaging	Het
Sec24d	T	C	3: 123,148,596 (GRCm39)	C747R	probably damaging	Het
Sec31a	A	T	5: 100,516,192 (GRCm39)	N967K	probably damaging	Het
Sell	T	C	1: 163,890,631 (GRCm39)	W5R	probably benign	Het
Siglec1	C	T	2: 130,911,789 (GRCm39)	V1697M	probably benign	Het
Sinhcaf	A	G	6: 148,834,498 (GRCm39)		probably null	Het
Slc22a26	T	A	19: 7,768,419 (GRCm39)	I213L	probably benign	Het
Slc2a13	G	A	15: 91,296,415 (GRCm39)	P300S	probably benign	Het
Slco1a4	A	G	6: 141,761,231 (GRCm39)	Y461H	possibly damaging	Het
Slco3a1	G	C	7: 73,970,304 (GRCm39)	C434W	probably null	Het
Sp3	A	T	2: 72,768,633 (GRCm39)	V666D	probably benign	Het
Spidr	A	T	16: 15,936,806 (GRCm39)	W100R	possibly damaging	Het
Stk33	T	A	7: 108,926,802 (GRCm39)	M286L	probably damaging	Het
Sult1c2	T	A	17: 54,139,163 (GRCm39)	I183F	probably benign	Het
Svep1	G	T	4: 58,087,751 (GRCm39)	T1776K	probably benign	Het
Tesk2	A	G	4: 116,660,190 (GRCm39)	H436R	probably benign	Het
Tex2	T	C	11: 106,459,230 (GRCm39)	T67A	probably damaging	Het
Timm10	T	C	2: 84,660,192 (GRCm39)	S44P	possibly damaging	Het
Tmed11	C	A	5: 108,943,048 (GRCm39)		probably null	Het
Trim12c	G	A	7: 103,990,155 (GRCm39)	R441C	probably damaging	Het
Trmt2a	A	G	16: 18,070,793 (GRCm39)	K509E	probably damaging	Het
Upk3a	A	G	15: 84,903,624 (GRCm39)	T108A	probably benign	Het
Usp29	A	G	7: 6,965,158 (GRCm39)	M334V	probably benign	Het
Vash1	A	G	12: 86,726,916 (GRCm39)	D52G	probably benign	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
Vmn2r75	G	T	7: 85,820,787 (GRCm39)	S49Y	probably benign	Het
Xdh	T	C	17: 74,217,238 (GRCm39)	T677A	probably damaging	Het
Zan	A	G	5: 137,384,718 (GRCm39)	L5102P	unknown	Het
Zfp160	T	A	17: 21,240,343 (GRCm39)	S9T	probably benign	Het
Zfp273	A	T	13: 67,973,673 (GRCm39)	H267L	probably damaging	Het
Zfp97	T	A	17: 17,365,038 (GRCm39)	I179K	probably benign	Het
Zfp975	T	C	7: 42,311,716 (GRCm39)	Y299C	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
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'- AACCTGCTGACCAAGATCCTG -3'
(R):5'- ATGAGTGAACACACTTCCTCAC -3'

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

Posted On

2016-03-17