Mutagenetix > Incidental Mutation

Incidental Mutation 'R0528:Rsph3a'

49022

Institutional Source

Beutler Lab

Gene Symbol

Rsph3a

Ensembl Gene

ENSMUSG00000073471

Gene Name

radial spoke 3A homolog (Chlamydomonas)

Synonyms

1700012G05Rik, Rshl2a, Rshl2, 4930524H12Rik

MMRRC Submission

038720-MU

Accession Numbers

Essential gene?

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

Stock #

R0528 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

8164446-8198388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8164919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 93 (H93R)

Ref Sequence

ENSEMBL: ENSMUSP00000156325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097423] [ENSMUST00000232223]

AlphaFold

Q3UFY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097423
AA Change: H93R

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095034
Gene: ENSMUSG00000073471
AA Change: H93R

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
Pfam:Radial_spoke_3	172	454	1.2e-130	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231845

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232223
AA Change: H93R

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232627

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,838,848 (GRCm39)	W674G	probably damaging	Het
Abcc9	G	A	6: 142,638,606 (GRCm39)	H103Y	probably damaging	Het
Ano7	A	G	1: 93,323,224 (GRCm39)	N495S	probably null	Het
Aoc1l3	T	A	6: 48,964,965 (GRCm39)	D324E	probably benign	Het
Ash1l	A	G	3: 88,889,584 (GRCm39)	N488D	probably benign	Het
Astn2	A	G	4: 65,563,119 (GRCm39)		probably benign	Het
Atraid	T	A	5: 31,209,796 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,767,083 (GRCm39)	R866G	probably damaging	Het
Cep164	T	A	9: 45,688,234 (GRCm39)		probably benign	Het
Clec4f	G	A	6: 83,629,776 (GRCm39)	Q261*	probably null	Het
Cpne4	A	T	9: 104,563,640 (GRCm39)	N6Y	probably damaging	Het
Dhx38	G	T	8: 110,289,293 (GRCm39)	Q36K	probably benign	Het
Dna2	C	A	10: 62,793,910 (GRCm39)	Q341K	probably benign	Het
Dynap	A	G	18: 70,375,165 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,973,809 (GRCm39)	V408A	probably benign	Het
Foxi3	T	A	6: 70,934,122 (GRCm39)	I203N	probably damaging	Het
Gcc2	T	A	10: 58,134,511 (GRCm39)	L1495Q	probably damaging	Het
Gpr158	A	G	2: 21,830,019 (GRCm39)	D688G	probably damaging	Het
Hcfc2	C	A	10: 82,575,079 (GRCm39)	T246K	probably damaging	Het
Hdc	C	T	2: 126,458,152 (GRCm39)	E57K	probably benign	Het
Iqsec3	G	C	6: 121,389,743 (GRCm39)		probably benign	Het
Islr2	T	A	9: 58,106,645 (GRCm39)	E205V	probably damaging	Het
Klf9	T	C	19: 23,119,498 (GRCm39)	L127P	probably benign	Het
Lamc2	A	T	1: 152,999,840 (GRCm39)	L1173Q	probably damaging	Het
Lipe	G	A	7: 25,097,901 (GRCm39)	T14I	possibly damaging	Het
Lnpep	A	G	17: 17,751,394 (GRCm39)		probably benign	Het
Lrrc15	A	G	16: 30,092,566 (GRCm39)	S258P	probably damaging	Het
Macc1	A	T	12: 119,410,780 (GRCm39)	Y516F	probably benign	Het
Megf6	A	G	4: 154,343,630 (GRCm39)	T718A	probably benign	Het
Mtcl2	A	G	2: 156,862,612 (GRCm39)	L1439P	probably damaging	Het
Myh1	A	G	11: 67,111,445 (GRCm39)	D1628G	probably damaging	Het
Naca	C	T	10: 127,879,162 (GRCm39)	T1398I	probably benign	Het
Or1f12	A	G	13: 21,721,416 (GRCm39)	F238S	possibly damaging	Het
Or2a54	A	T	6: 43,093,150 (GRCm39)	H158L	possibly damaging	Het
Padi4	A	G	4: 140,496,740 (GRCm39)	V52A	possibly damaging	Het
Paqr5	G	A	9: 61,863,527 (GRCm39)	T251I	probably damaging	Het
Pcm1	A	G	8: 41,768,967 (GRCm39)	D1611G	probably damaging	Het
Prss12	G	A	3: 123,276,445 (GRCm39)	R358K	probably benign	Het
Racgap1	A	T	15: 99,526,587 (GRCm39)	H325Q	probably damaging	Het
Rbm12b1	A	G	4: 12,145,657 (GRCm39)	H543R	probably benign	Het
Rc3h1	A	T	1: 160,795,228 (GRCm39)	N1076I	probably damaging	Het
Rp1	A	G	1: 4,415,088 (GRCm39)	L2008P	possibly damaging	Het
Sbf1	C	T	15: 89,172,915 (GRCm39)	R1840H	probably damaging	Het
Skic8	T	A	9: 54,630,219 (GRCm39)		probably benign	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tbc1d9	T	C	8: 83,937,085 (GRCm39)	S56P	probably damaging	Het
Tiam2	A	T	17: 3,561,346 (GRCm39)	M1304L	probably damaging	Het
Tmprss11b	G	T	5: 86,819,753 (GRCm39)	R9S	probably damaging	Het
Tnfrsf21	T	A	17: 43,348,505 (GRCm39)	I39N	probably benign	Het
Tnrc6b	T	C	15: 80,763,604 (GRCm39)	S369P	probably benign	Het
Tpra1	T	C	6: 88,887,372 (GRCm39)	V217A	probably benign	Het
Uckl1	G	C	2: 181,212,283 (GRCm39)		probably benign	Het
Vmn1r199	A	T	13: 22,566,736 (GRCm39)	Q10L	probably benign	Het
Vmn2r76	A	G	7: 85,879,506 (GRCm39)	S265P	possibly damaging	Het
Vwa5b1	A	T	4: 138,321,662 (GRCm39)	L377Q	probably damaging	Het
Wrap73	A	G	4: 154,229,776 (GRCm39)	D49G	probably damaging	Het
Zfp764	T	A	7: 127,004,051 (GRCm39)	Q360L	possibly damaging	Het
Zfp846	G	A	9: 20,499,224 (GRCm39)		probably benign	Het
Zranb2	T	C	3: 157,240,096 (GRCm39)	I14T	probably benign	Het

Other mutations in Rsph3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0501:Rsph3a	UTSW	17	8,197,952 (GRCm39)	nonsense	probably null
R1053:Rsph3a	UTSW	17	8,164,736 (GRCm39)	missense	probably benign	0.00
R5511:Rsph3a	UTSW	17	8,164,905 (GRCm39)	missense	possibly damaging	0.51
R5540:Rsph3a	UTSW	17	8,164,790 (GRCm39)	missense	probably benign	0.38
R7256:Rsph3a	UTSW	17	8,165,002 (GRCm39)	missense	probably benign	0.01
R7745:Rsph3a	UTSW	17	8,198,075 (GRCm39)	missense	probably damaging	0.99
R7896:Rsph3a	UTSW	17	8,164,940 (GRCm39)	missense	probably damaging	0.96
R7938:Rsph3a	UTSW	17	8,165,050 (GRCm39)	nonsense	probably null
R8079:Rsph3a	UTSW	17	8,198,020 (GRCm39)	missense	probably benign	0.00
R8430:Rsph3a	UTSW	17	8,171,403 (GRCm39)	missense	probably damaging	1.00
R9648:Rsph3a	UTSW	17	8,171,395 (GRCm39)	missense	probably benign	0.12
R9653:Rsph3a	UTSW	17	8,165,074 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CGGAAGTGCCCTTTACTACAGACC -3'
(R):5'- CACGGCTGCAAAATGCTGTCTC -3'

Sequencing Primer
(F):5'- CCTTTACTACAGACCCTTCCG -3'
(R):5'- TGGAATAGGTGTAGAGGCCTGA -3'

Posted On

2013-06-12