Mutagenetix > Incidental Mutation

Incidental Mutation 'R7701:Rsph14'

594013

Institutional Source

Beutler Lab

Gene Symbol

Rsph14

Ensembl Gene

ENSMUSG00000009070

Gene Name

radial spoke head homolog 14 (Chlamydomonas)

Synonyms

4933431K05Rik, Rtdr1

MMRRC Submission

045762-MU

Accession Numbers

Essential gene?

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

Stock #

R7701 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74793309-74868418 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 74793608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 264 (Y264*)

Ref Sequence

ENSEMBL: ENSMUSP00000136715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]

AlphaFold

Q9D3W1

Predicted Effect

probably null
Transcript: ENSMUST00000009214
AA Change: Y264*

SMART Domains

Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: Y264*

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	28	133	9.9e-8	PFAM
ARM	138	178	3.18e1	SMART
ARM	218	258	1.88e0	SMART
ARM	259	300	3.32e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160072

SMART Domains

Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	28	133	1.6e-8	PFAM
Blast:ARM	138	161	2e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000160450

SMART Domains

Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	28	133	4.1e-8	PFAM
Blast:ARM	138	178	3e-19	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000166088
AA Change: Y297*

SMART Domains

Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: Y297*

Domain	Start	End	E-Value	Type
Blast:ARM	48	88	1e-7	BLAST
Blast:ARM	89	129	3e-16	BLAST
ARM	171	211	3.18e1	SMART
ARM	251	291	1.88e0	SMART
ARM	292	333	3.32e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000179546
AA Change: Y264*

SMART Domains

Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: Y264*

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	28	133	9.9e-8	PFAM
ARM	138	178	3.18e1	SMART
ARM	218	258	1.88e0	SMART
ARM	259	300	3.32e-1	SMART

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	T	C	2: 170,443,225 (GRCm39)		probably benign	Het
4932414N04Rik	G	A	2: 68,561,548 (GRCm39)	V292M	possibly damaging	Het
Actn1	A	T	12: 80,221,328 (GRCm39)	V575E	possibly damaging	Het
Arhgef1	T	C	7: 24,612,003 (GRCm39)	S129P	probably benign	Het
Aup1	T	C	6: 83,032,908 (GRCm39)	V214A	probably benign	Het
Bbs10	A	G	10: 111,135,874 (GRCm39)	E329G	probably damaging	Het
Brinp2	A	G	1: 158,094,030 (GRCm39)		probably null	Het
Ccdc3	A	G	2: 5,142,868 (GRCm39)	T42A	possibly damaging	Het
Cd276	T	C	9: 58,442,810 (GRCm39)	N215S	probably benign	Het
Col24a1	T	A	3: 145,020,772 (GRCm39)	M381K	probably benign	Het
Col24a1	A	G	3: 145,072,656 (GRCm39)		probably null	Het
Col6a4	A	C	9: 105,960,087 (GRCm39)	F19V	probably benign	Het
Crybg1	G	T	10: 43,865,139 (GRCm39)	A1446E	probably benign	Het
Dach1	C	T	14: 98,140,670 (GRCm39)	R496K	probably damaging	Het
Dchs2	A	G	3: 83,253,513 (GRCm39)	T2308A	possibly damaging	Het
Duxf1	A	G	10: 58,058,885 (GRCm39)	V623A	possibly damaging	Het
Dync1h1	G	A	12: 110,585,080 (GRCm39)	D828N	probably damaging	Het
Eif2a	A	T	3: 58,459,991 (GRCm39)	H462L	possibly damaging	Het
Flot2	A	G	11: 77,928,942 (GRCm39)		probably null	Het
Gas2	T	G	7: 51,643,101 (GRCm39)	Y263*	probably null	Het
Gm5111	A	G	6: 48,567,027 (GRCm39)	I81V	unknown	Het
Iqcm	A	G	8: 76,281,539 (GRCm39)	I7M	probably benign	Het
Kank1	G	A	19: 25,389,129 (GRCm39)		probably null	Het
Lnx2	A	T	5: 146,961,333 (GRCm39)	V533E	probably damaging	Het
Mapk8ip3	G	T	17: 25,120,378 (GRCm39)	P904T	possibly damaging	Het
Mcm5	C	A	8: 75,850,551 (GRCm39)	H596N	probably benign	Het
Miip	A	T	4: 147,947,371 (GRCm39)	V237E	probably null	Het
Mob3a	G	A	10: 80,525,768 (GRCm39)	A181V	probably damaging	Het
Mrpl38	G	A	11: 116,026,104 (GRCm39)	R99W	probably benign	Het
Naa25	A	G	5: 121,564,042 (GRCm39)	T486A	probably benign	Het
Or2z9	T	A	8: 72,854,030 (GRCm39)	L142Q	probably damaging	Het
Or5b102	A	G	19: 13,041,445 (GRCm39)	I223M	probably damaging	Het
Or8g4	A	G	9: 39,662,597 (GRCm39)	Y305C	probably benign	Het
Pcdha8	A	T	18: 37,126,864 (GRCm39)	N449Y	probably damaging	Het
Pcdhb6	A	T	18: 37,467,562 (GRCm39)	D161V	probably damaging	Het
Pdlim3	A	G	8: 46,361,576 (GRCm39)	D134G	probably benign	Het
Phpt1	A	G	2: 25,464,799 (GRCm39)	V18A	probably benign	Het
Prg4	T	C	1: 150,333,293 (GRCm39)	K177E	possibly damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Rab14	A	G	2: 35,073,427 (GRCm39)	F150L		Het
Rgs14	A	G	13: 55,527,138 (GRCm39)	D169G	probably damaging	Het
Rreb1	C	T	13: 38,114,092 (GRCm39)	L484F	possibly damaging	Het
Scly	T	C	1: 91,236,030 (GRCm39)	I152T		Het
Ska1	A	T	18: 74,335,714 (GRCm39)	H85Q	probably damaging	Het
Slc35b3	T	C	13: 39,128,611 (GRCm39)	M159V	probably benign	Het
Smok2b	A	G	17: 13,453,767 (GRCm39)		probably benign	Het
Spock1	G	A	13: 57,735,472 (GRCm39)	Q103*	probably null	Het
Topbp1	T	C	9: 103,210,184 (GRCm39)	V914A	probably damaging	Het
Tspan3	A	T	9: 56,054,803 (GRCm39)	Y41*	probably null	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,560,028 (GRCm39)	I29458L	possibly damaging	Het
Tubgcp3	A	G	8: 12,705,974 (GRCm39)	S183P	probably benign	Het
Zfat	C	A	15: 68,052,757 (GRCm39)	E346*	probably null	Het
Zfp341	T	A	2: 154,476,000 (GRCm39)		probably null	Het
Zfp54	A	G	17: 21,654,357 (GRCm39)	T284A	probably benign	Het

Other mutations in Rsph14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Rsph14	APN	10	74,865,601 (GRCm39)	missense	probably benign	0.01
IGL01735:Rsph14	APN	10	74,860,992 (GRCm39)	missense	probably damaging	1.00
IGL01809:Rsph14	APN	10	74,793,618 (GRCm39)	splice site	probably benign
IGL02534:Rsph14	APN	10	74,793,466 (GRCm39)	missense	probably damaging	0.97
R1215:Rsph14	UTSW	10	74,860,898 (GRCm39)	missense	probably benign	0.27
R2060:Rsph14	UTSW	10	74,865,603 (GRCm39)	missense	probably damaging	1.00
R2163:Rsph14	UTSW	10	74,793,611 (GRCm39)	missense	probably damaging	1.00
R3777:Rsph14	UTSW	10	74,793,420 (GRCm39)	missense	possibly damaging	0.66
R3777:Rsph14	UTSW	10	74,793,419 (GRCm39)	missense	possibly damaging	0.87
R3778:Rsph14	UTSW	10	74,793,420 (GRCm39)	missense	possibly damaging	0.66
R3778:Rsph14	UTSW	10	74,793,419 (GRCm39)	missense	possibly damaging	0.87
R3844:Rsph14	UTSW	10	74,867,107 (GRCm39)	missense	possibly damaging	0.93
R5787:Rsph14	UTSW	10	74,793,460 (GRCm39)	missense	possibly damaging	0.62
R6044:Rsph14	UTSW	10	74,867,102 (GRCm39)	missense	probably benign	0.44
R6232:Rsph14	UTSW	10	74,797,520 (GRCm39)	missense	probably benign	0.00
R7401:Rsph14	UTSW	10	74,865,628 (GRCm39)	missense	possibly damaging	0.75
R8096:Rsph14	UTSW	10	74,795,493 (GRCm39)	missense	possibly damaging	0.81
R8374:Rsph14	UTSW	10	74,797,481 (GRCm39)	missense	probably benign	0.05
R8725:Rsph14	UTSW	10	74,795,516 (GRCm39)	missense	probably benign	0.04
R9027:Rsph14	UTSW	10	74,795,423 (GRCm39)	missense	probably damaging	1.00
X0023:Rsph14	UTSW	10	74,797,553 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ATGGCTACTTCTGCTGCTCG -3'
(R):5'- CTGATTGCAGGATAGGGGAC -3'

Sequencing Primer
(F):5'- CCTCGTTTTTATGCGCAAGGAG -3'
(R):5'- AGGTGGCATTGCTCCTAA -3'

Posted On

2019-11-12