Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Rsph14'

574176

Institutional Source

Beutler Lab

Gene Symbol

Rsph14

Ensembl Gene

ENSMUSG00000009070

Gene Name

radial spoke head homolog 14 (Chlamydomonas)

Synonyms

4933431K05Rik, Rtdr1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74957477-75032586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75029796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 70 (E70V)

Ref Sequence

ENSEMBL: ENSMUSP00000136715 (fasta)

Gene Model

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

AlphaFold

Q9D3W1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009214
AA Change: E70V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: E70V

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 damaging
Transcript: ENSMUST00000159994
AA Change: E70V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125669
Gene: ENSMUSG00000009070
AA Change: E70V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160072
AA Change: E70V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070
AA Change: E70V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160450
AA Change: E70V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070
AA Change: E70V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166088
AA Change: E103V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: E103V

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

possibly damaging
Transcript: ENSMUST00000179546
AA Change: E70V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: E70V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly damaging	Het

Other mutations in Rsph14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Rsph14	APN	10	75029769	missense	probably benign	0.01
IGL01735:Rsph14	APN	10	75025160	missense	probably damaging	1.00
IGL01809:Rsph14	APN	10	74957786	splice site	probably benign
IGL02534:Rsph14	APN	10	74957634	missense	probably damaging	0.97
R1215:Rsph14	UTSW	10	75025066	missense	probably benign	0.27
R2060:Rsph14	UTSW	10	75029771	missense	probably damaging	1.00
R2163:Rsph14	UTSW	10	74957779	missense	probably damaging	1.00
R3777:Rsph14	UTSW	10	74957587	missense	possibly damaging	0.87
R3777:Rsph14	UTSW	10	74957588	missense	possibly damaging	0.66
R3778:Rsph14	UTSW	10	74957587	missense	possibly damaging	0.87
R3778:Rsph14	UTSW	10	74957588	missense	possibly damaging	0.66
R3844:Rsph14	UTSW	10	75031275	missense	possibly damaging	0.93
R5787:Rsph14	UTSW	10	74957628	missense	possibly damaging	0.62
R6044:Rsph14	UTSW	10	75031270	missense	probably benign	0.44
R6232:Rsph14	UTSW	10	74961688	missense	probably benign	0.00
R7701:Rsph14	UTSW	10	74957776	nonsense	probably null
R8096:Rsph14	UTSW	10	74959661	missense	possibly damaging	0.81
R8374:Rsph14	UTSW	10	74961649	missense	probably benign	0.05
R8725:Rsph14	UTSW	10	74959684	missense	probably benign	0.04
R9027:Rsph14	UTSW	10	74959591	missense	probably damaging	1.00
X0023:Rsph14	UTSW	10	74961721	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TCATCCACAAATAGAGGCGC -3'
(R):5'- AAATAGGATTGACTCTGGGTGTGAG -3'

Sequencing Primer
(F):5'- CGTGCTCAAGGTCACTCGAG -3'
(R):5'- CTGGGTGTGAGCTCCTTATACTAAC -3'

Posted On

2019-09-13