Mutagenetix > Incidental Mutation

Incidental Mutation 'R8430:Rsph3a'

653723

Institutional Source

Beutler Lab

Gene Symbol

Rsph3a

Ensembl Gene

ENSMUSG00000073471

Gene Name

radial spoke 3A homolog (Chlamydomonas)

Synonyms

1700012G05Rik, Rshl2a, Rshl2, 4930524H12Rik

MMRRC Submission

067775-MU

Accession Numbers

Essential gene?

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

Stock #

R8430 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8164446-8198388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8171403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 173 (G173W)

Ref Sequence

ENSEMBL: ENSMUSP00000095034 (fasta)

Gene Model

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

AlphaFold

Q3UFY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000097423
AA Change: G173W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095034
Gene: ENSMUSG00000073471
AA Change: G173W

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

probably damaging
Transcript: ENSMUST00000232223
AA Change: G173W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,078,981 (GRCm39)	T677I	probably benign	Het
Adh4	T	G	3: 138,128,145 (GRCm39)	N190K	probably damaging	Het
Ahnak2	A	T	12: 112,741,121 (GRCm39)	S984T	possibly damaging	Het
Aknad1	A	G	3: 108,659,037 (GRCm39)	D17G	possibly damaging	Het
Ankrd11	T	C	8: 123,620,105 (GRCm39)	N1249S	probably benign	Het
Ankrd31	A	G	13: 96,988,199 (GRCm39)	K1071E	possibly damaging	Het
Atp1a3	A	G	7: 24,698,437 (GRCm39)	L120P	probably damaging	Het
AU040320	C	A	4: 126,742,693 (GRCm39)	A986E	possibly damaging	Het
Camkv	T	C	9: 107,824,968 (GRCm39)	M323T	probably damaging	Het
Cdh18	T	G	15: 23,226,770 (GRCm39)	L77R	probably damaging	Het
Col24a1	C	T	3: 145,021,060 (GRCm39)	T477M	probably damaging	Het
Cpeb3	A	T	19: 37,002,406 (GRCm39)	F669I	probably damaging	Het
Cramp1	A	T	17: 25,196,536 (GRCm39)	H859Q	probably damaging	Het
Csnk1g1	C	A	9: 65,906,803 (GRCm39)	T140K	probably damaging	Het
Ctnnbl1	A	G	2: 157,678,603 (GRCm39)	E402G	probably damaging	Het
Cyp20a1	T	C	1: 60,402,488 (GRCm39)	V191A	possibly damaging	Het
Dkk3	A	G	7: 111,720,853 (GRCm39)	Y158H	probably damaging	Het
Fgfr2	T	C	7: 129,765,708 (GRCm39)	N835S	probably damaging	Het
Fggy	GCACCA	GCA	4: 95,815,002 (GRCm39)		probably benign	Het
Gpatch1	G	A	7: 35,007,634 (GRCm39)	T142M	probably damaging	Het
Gtf3c2	G	A	5: 31,330,403 (GRCm39)	A189V	probably damaging	Het
Heatr5b	T	C	17: 79,137,053 (GRCm39)	I156V	probably damaging	Het
Itpka	T	A	2: 119,580,035 (GRCm39)	V258E	probably damaging	Het
Klhdc4	A	G	8: 122,526,252 (GRCm39)	S327P	possibly damaging	Het
L1td1	C	T	4: 98,626,109 (GRCm39)	T702I	probably damaging	Het
Lap3	A	G	5: 45,654,726 (GRCm39)	D110G	probably benign	Het
Mab21l1	C	A	3: 55,690,830 (GRCm39)	A139E	probably damaging	Het
Myo15b	G	A	11: 115,773,049 (GRCm39)	V173M	probably benign	Het
Or12e1	T	G	2: 87,022,564 (GRCm39)	S178A	possibly damaging	Het
Or2a57	G	A	6: 43,212,894 (GRCm39)	M117I	probably benign	Het
Or52ab4	G	T	7: 102,988,164 (GRCm39)	R301L	probably benign	Het
Or5m10b	A	T	2: 85,699,526 (GRCm39)	M197L	probably benign	Het
Rdh7	A	G	10: 127,723,495 (GRCm39)	I120T	probably benign	Het
Sec22b	T	C	3: 97,828,546 (GRCm39)	F203S	probably benign	Het
Sulf2	C	T	2: 165,916,736 (GRCm39)	G867E	probably benign	Het
Tia1	A	T	6: 86,395,906 (GRCm39)	D90V	probably benign	Het
Tiam2	A	G	17: 3,568,537 (GRCm39)	D1561G	probably benign	Het
Trav9d-1	A	G	14: 53,030,217 (GRCm39)	Y107C	probably damaging	Het
Trim32	T	C	4: 65,532,943 (GRCm39)	V500A	probably damaging	Het
Ube2f	G	A	1: 91,181,989 (GRCm39)		probably benign	Het
Ulk4	C	T	9: 121,086,144 (GRCm39)		probably null	Het
Zfp940	A	G	7: 29,544,771 (GRCm39)	F379L	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
R0528:Rsph3a	UTSW	17	8,164,919 (GRCm39)	missense	possibly damaging	0.70
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
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'- CAGTAAGTGGTTGGTCGCT -3'
(R):5'- TAAAATGAAAGCTGTGTTAGGCCAC -3'

Sequencing Primer
(F):5'- TAGAGTCAAGCTCAACAGGGTCTTC -3'
(R):5'- CCAGGTGGAAACATTTCTCCATGG -3'

Posted On

2020-10-20