Mutagenetix > Incidental Mutation

Incidental Mutation 'R2060:Rsph14'

228635

Institutional Source

Beutler Lab

Gene Symbol

Rsph14

Ensembl Gene

ENSMUSG00000009070

Gene Name

radial spoke head homolog 14 (Chlamydomonas)

Synonyms

4933431K05Rik, Rtdr1

MMRRC Submission

040065-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R2060 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74957477-75032586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75029771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 78 (D78E)

Ref Sequence

ENSEMBL: ENSMUSP00000136715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000159994] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]

AlphaFold

Q9D3W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000009214
AA Change: D78E

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

SMART Domains

Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: D78E

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

noncoding transcript
Transcript: ENSMUST00000159761

Predicted Effect

probably damaging
Transcript: ENSMUST00000159994
AA Change: D78E

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

SMART Domains

Protein: ENSMUSP00000125669
Gene: ENSMUSG00000009070
AA Change: D78E

Domain	Start	End	E-Value	Type
Pfam:HEAT_2	28	133	2.8e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160072
AA Change: D78E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070
AA Change: D78E

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 damaging
Transcript: ENSMUST00000160450
AA Change: D78E

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

SMART Domains

Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070
AA Change: D78E

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 damaging
Transcript: ENSMUST00000166088
AA Change: D111E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: D111E

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 damaging
Transcript: ENSMUST00000179546
AA Change: D78E

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

SMART Domains

Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: D78E

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

noncoding transcript
Transcript: ENSMUST00000220411

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8430408G22Rik	G	A	6: 116,651,722 (GRCm38)	V9M	possibly damaging	Het
Abca14	G	A	7: 120,227,518 (GRCm38)	W462*	probably null	Het
Aftph	A	T	11: 20,692,571 (GRCm38)	Y821N	probably damaging	Het
Ahnak	A	T	19: 9,008,041 (GRCm38)	M2230L	probably benign	Het
Arfgap1	T	C	2: 180,972,782 (GRCm38)	F144L	probably benign	Het
Arid4b	C	T	13: 14,195,452 (GRCm38)	R1178C	probably damaging	Het
Asb8	A	T	15: 98,141,373 (GRCm38)	C49S	possibly damaging	Het
Baz1b	A	G	5: 135,205,114 (GRCm38)	N165S	probably damaging	Het
BC017158	A	G	7: 128,288,331 (GRCm38)	L176P	probably damaging	Het
Bod1l	A	T	5: 41,808,742 (GRCm38)	I2660N	possibly damaging	Het
C2cd3	T	C	7: 100,454,948 (GRCm38)	I825T	probably damaging	Het
C4b	A	G	17: 34,736,101 (GRCm38)	W804R	probably damaging	Het
Cadm3	A	T	1: 173,344,402 (GRCm38)	D201E	probably damaging	Het
Cdh17	T	C	4: 11,803,982 (GRCm38)	F552L	probably benign	Het
Cdh7	G	C	1: 110,048,877 (GRCm38)	A91P	probably damaging	Het
Cela1	A	G	15: 100,675,322 (GRCm38)		probably null	Het
Clk3	T	C	9: 57,751,117 (GRCm38)	Y582C	probably damaging	Het
Cma1	C	T	14: 55,943,698 (GRCm38)		probably null	Het
Ctcfl	A	G	2: 173,118,506 (GRCm38)	S95P	probably benign	Het
Cylc1	C	A	X: 111,123,123 (GRCm38)	T391K	unknown	Het
Cyp3a11	T	A	5: 145,855,081 (GRCm38)	I501L	probably benign	Het
Cyp3a59	T	A	5: 146,104,714 (GRCm38)	L356Q	probably damaging	Het
Dcdc2a	A	C	13: 25,107,710 (GRCm38)	D226A	possibly damaging	Het
Dlec1	A	C	9: 119,112,086 (GRCm38)	T235P	probably damaging	Het
Dnaaf1	G	A	8: 119,590,602 (GRCm38)	R290Q	probably benign	Het
Dnaaf5	C	T	5: 139,178,003 (GRCm38)	R377W	probably damaging	Het
Dpep1	T	A	8: 123,200,391 (GRCm38)	V293E	probably damaging	Het
Drosha	T	A	15: 12,924,159 (GRCm38)	V1209E	possibly damaging	Het
Dync2h1	T	G	9: 7,162,802 (GRCm38)	I596L	possibly damaging	Het
Edem1	T	A	6: 108,854,287 (GRCm38)	Y570N	probably damaging	Het
Edrf1	G	T	7: 133,657,129 (GRCm38)	E9*	probably null	Het
Enpep	T	A	3: 129,280,523 (GRCm38)	N792Y	probably benign	Het
Enpp2	A	T	15: 54,875,714 (GRCm38)	M391K	probably damaging	Het
Fanca	A	C	8: 123,274,481 (GRCm38)	V1105G	probably damaging	Het
Fbxo22	T	A	9: 55,218,383 (GRCm38)	L74I	probably damaging	Het
Fchsd2	T	A	7: 101,277,417 (GRCm38)	F571L	probably benign	Het
Fhad1	T	C	4: 141,899,249 (GRCm38)	D1345G	probably benign	Het
G2e3	T	C	12: 51,372,606 (GRCm38)	F702L	probably damaging	Het
Glce	A	T	9: 62,060,946 (GRCm38)	S308T	possibly damaging	Het
Glt1d1	A	G	5: 127,657,119 (GRCm38)	D119G	probably benign	Het
Gpr137c	T	C	14: 45,244,159 (GRCm38)	I144T	probably damaging	Het
Gprin3	A	G	6: 59,354,519 (GRCm38)	C268R	possibly damaging	Het
Hadha	G	A	5: 30,128,836 (GRCm38)	T395M	probably benign	Het
Hdhd2	T	G	18: 76,965,042 (GRCm38)		probably null	Het
Homer2	C	T	7: 81,618,703 (GRCm38)	E70K	probably benign	Het
Hp1bp3	T	A	4: 138,240,672 (GRCm38)	D397E	probably damaging	Het
Hrh3	T	C	2: 180,101,250 (GRCm38)	N195S	possibly damaging	Het
Hyou1	T	C	9: 44,381,552 (GRCm38)	V153A	probably benign	Het
Igf2r	A	T	17: 12,701,319 (GRCm38)	S1378T	possibly damaging	Het
Ints4	G	A	7: 97,501,763 (GRCm38)	R279H	possibly damaging	Het
Itga10	A	T	3: 96,654,998 (GRCm38)	R699*	probably null	Het
Itpkb	A	G	1: 180,421,858 (GRCm38)	T933A	probably benign	Het
Itsn2	T	G	12: 4,627,879 (GRCm38)	F79V	probably damaging	Het
Jak3	A	T	8: 71,683,415 (GRCm38)	K620*	probably null	Het
Jak3	C	A	8: 71,680,714 (GRCm38)	C350*	probably null	Het
Kcnq5	T	C	1: 21,461,597 (GRCm38)	S421G	probably benign	Het
Kdm2b	A	T	5: 122,883,365 (GRCm38)	M50K	probably damaging	Het
Klk1b1	A	G	7: 43,970,623 (GRCm38)	D170G	possibly damaging	Het
Lama3	A	T	18: 12,528,726 (GRCm38)	T2160S	probably benign	Het
Lman1	A	T	18: 65,998,352 (GRCm38)		probably benign	Het
Lmtk3	G	A	7: 45,800,911 (GRCm38)		probably null	Het
Ltb	A	G	17: 35,195,763 (GRCm38)	R180G	probably damaging	Het
Ltbp4	C	T	7: 27,308,953 (GRCm38)	R1310Q	probably damaging	Het
Macf1	T	A	4: 123,499,919 (GRCm38)		probably null	Het
Mast4	G	T	13: 102,738,846 (GRCm38)	P1146Q	probably damaging	Het
Micall2	C	T	5: 139,711,562 (GRCm38)	S678N	probably damaging	Het
Mon2	A	T	10: 122,995,776 (GRCm38)	I1675N	probably damaging	Het
Mug2	A	G	6: 122,079,612 (GRCm38)	N1172S	probably benign	Het
Naa30	C	G	14: 49,173,099 (GRCm38)	S161R	possibly damaging	Het
Ncaph	T	C	2: 127,124,875 (GRCm38)	N220D	probably damaging	Het
Nell1	T	C	7: 50,560,830 (GRCm38)	V497A	possibly damaging	Het
Ngly1	A	G	14: 16,277,877 (GRCm38)	N142S	possibly damaging	Het
Nin	T	A	12: 70,042,418 (GRCm38)	T1408S	possibly damaging	Het
Nlrp4g	T	A	9: 124,349,693 (GRCm38)		noncoding transcript	Het
Nrg1	T	G	8: 31,918,015 (GRCm38)	E63D	probably damaging	Het
Ntn4	C	T	10: 93,707,353 (GRCm38)	R314W	probably damaging	Het
Olfr1167	T	C	2: 88,149,143 (GRCm38)	Y292C	probably damaging	Het
Olfr128	A	G	17: 37,923,880 (GRCm38)	T105A	probably benign	Het
Olfr473	C	T	7: 107,933,661 (GRCm38)	T47M	probably benign	Het
Olfr522	T	A	7: 140,162,824 (GRCm38)	E42V	probably damaging	Het
Olfr845	A	G	9: 19,339,056 (GRCm38)	I199V	probably benign	Het
Olfr851	T	A	9: 19,497,237 (GRCm38)	V163E	possibly damaging	Het
Olfr867	A	T	9: 20,054,596 (GRCm38)	I289N	probably damaging	Het
Olfr998	G	A	2: 85,591,283 (GRCm38)	V248I	possibly damaging	Het
Orc5	C	T	5: 22,516,703 (GRCm38)		probably null	Het
Pard3	G	A	8: 127,398,604 (GRCm38)	R691Q	probably benign	Het
Pofut1	T	A	2: 153,243,660 (GRCm38)	D54E	probably benign	Het
Prl2c5	T	A	13: 13,190,653 (GRCm38)	V128E	probably damaging	Het
Ptk7	T	C	17: 46,566,238 (GRCm38)	M965V	possibly damaging	Het
Pum2	C	T	12: 8,728,726 (GRCm38)	R459*	probably null	Het
Pzp	A	T	6: 128,483,710 (GRCm38)	N1494K	probably benign	Het
Rad21l	A	G	2: 151,645,429 (GRCm38)	V545A	probably benign	Het
Rps6kc1	A	T	1: 190,810,108 (GRCm38)	M352K	possibly damaging	Het
Rpusd2	G	A	2: 119,037,215 (GRCm38)		probably null	Het
Rtl9	A	T	X: 143,102,030 (GRCm38)	M813L	possibly damaging	Het
Rtp4	A	T	16: 23,612,940 (GRCm38)	H74L	probably damaging	Het
Rusc1	G	A	3: 89,087,848 (GRCm38)	T725I	possibly damaging	Het
Ryr2	C	T	13: 11,595,736 (GRCm38)	C4068Y	probably damaging	Het
Ryr3	A	G	2: 112,954,364 (GRCm38)	V224A	possibly damaging	Het
Shprh	A	T	10: 11,152,120 (GRCm38)	N157I	probably benign	Het
Siglece	A	G	7: 43,657,786 (GRCm38)	I67T	probably benign	Het
Slc9b2	A	T	3: 135,326,266 (GRCm38)	T296S	probably damaging	Het
Sorbs2	A	G	8: 45,775,629 (GRCm38)	K276E	probably damaging	Het
Synj2	A	G	17: 6,037,480 (GRCm38)	T1269A	probably benign	Het
Taar7b	T	C	10: 24,000,675 (GRCm38)	I246T	possibly damaging	Het
Taldo1	A	G	7: 141,396,154 (GRCm38)	Y113C	probably damaging	Het
Tarbp1	A	T	8: 126,447,594 (GRCm38)		probably null	Het
Tars	C	T	15: 11,394,373 (GRCm38)	M59I	probably benign	Het
Tas2r130	G	A	6: 131,630,817 (GRCm38)	T5I	probably benign	Het
Tex48	T	C	4: 63,607,415 (GRCm38)	E77G	probably damaging	Het
Tmco5	A	G	2: 116,892,255 (GRCm38)	R286G	probably damaging	Het
Trdmt1	A	T	2: 13,519,914 (GRCm38)	H243Q	probably benign	Het
Ttn	G	A	2: 76,897,580 (GRCm38)		probably benign	Het
Ttn	T	A	2: 76,734,294 (GRCm38)	R26754*	probably null	Het
Ubqln3	A	C	7: 104,142,151 (GRCm38)	L244R	probably damaging	Het
Ubxn1	C	T	19: 8,873,566 (GRCm38)	R115*	probably null	Het
Umod	T	G	7: 119,476,715 (GRCm38)	N276T	probably damaging	Het
Unc13c	A	T	9: 73,665,656 (GRCm38)	L1528Q	probably damaging	Het
Unc80	T	A	1: 66,640,595 (GRCm38)	H2108Q	possibly damaging	Het
Utp20	A	C	10: 88,774,795 (GRCm38)	D1442E	probably damaging	Het
Utp4	A	G	8: 106,898,521 (GRCm38)	Q144R	probably benign	Het
Vmn2r17	T	A	5: 109,427,209 (GRCm38)	N127K	probably benign	Het
Vmn2r75	T	A	7: 86,165,164 (GRCm38)	T374S	probably benign	Het
Washc5	A	G	15: 59,350,408 (GRCm38)	F523L	probably damaging	Het
Wdr3	A	T	3: 100,159,897 (GRCm38)		probably null	Het
Wdr89	T	C	12: 75,632,988 (GRCm38)	Y164C	probably damaging	Het
Xpo5	T	C	17: 46,225,091 (GRCm38)	S550P	probably damaging	Het
Zfp69	T	C	4: 120,930,832 (GRCm38)	T429A	probably damaging	Het
Zfpm1	G	T	8: 122,336,592 (GRCm38)	G797C	probably benign	Het

Other mutations in Rsph14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Rsph14	APN	10	75,029,769 (GRCm38)	missense	probably benign	0.01
IGL01735:Rsph14	APN	10	75,025,160 (GRCm38)	missense	probably damaging	1.00
IGL01809:Rsph14	APN	10	74,957,786 (GRCm38)	splice site	probably benign
IGL02534:Rsph14	APN	10	74,957,634 (GRCm38)	missense	probably damaging	0.97
R1215:Rsph14	UTSW	10	75,025,066 (GRCm38)	missense	probably benign	0.27
R2163:Rsph14	UTSW	10	74,957,779 (GRCm38)	missense	probably damaging	1.00
R3777:Rsph14	UTSW	10	74,957,588 (GRCm38)	missense	possibly damaging	0.66
R3777:Rsph14	UTSW	10	74,957,587 (GRCm38)	missense	possibly damaging	0.87
R3778:Rsph14	UTSW	10	74,957,588 (GRCm38)	missense	possibly damaging	0.66
R3778:Rsph14	UTSW	10	74,957,587 (GRCm38)	missense	possibly damaging	0.87
R3844:Rsph14	UTSW	10	75,031,275 (GRCm38)	missense	possibly damaging	0.93
R5787:Rsph14	UTSW	10	74,957,628 (GRCm38)	missense	possibly damaging	0.62
R6044:Rsph14	UTSW	10	75,031,270 (GRCm38)	missense	probably benign	0.44
R6232:Rsph14	UTSW	10	74,961,688 (GRCm38)	missense	probably benign	0.00
R7401:Rsph14	UTSW	10	75,029,796 (GRCm38)	missense	possibly damaging	0.75
R7701:Rsph14	UTSW	10	74,957,776 (GRCm38)	nonsense	probably null
R8096:Rsph14	UTSW	10	74,959,661 (GRCm38)	missense	possibly damaging	0.81
R8374:Rsph14	UTSW	10	74,961,649 (GRCm38)	missense	probably benign	0.05
R8725:Rsph14	UTSW	10	74,959,684 (GRCm38)	missense	probably benign	0.04
R9027:Rsph14	UTSW	10	74,959,591 (GRCm38)	missense	probably damaging	1.00
X0023:Rsph14	UTSW	10	74,961,721 (GRCm38)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GGAAGAAAATCCTGCTCAGCC -3'
(R):5'- GCTGACTTGGTTTCTGCAAAG -3'

Sequencing Primer
(F):5'- TGCCCTACAGAGAGAATTGTC -3'
(R):5'- GGTTTCTGCAAAGCCAAAGTAC -3'

Posted On

2014-09-17