Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Rsph10b'

506051

Institutional Source

Beutler Lab

Gene Symbol

Rsph10b

Ensembl Gene

ENSMUSG00000075569

Gene Name

radial spoke head 10 homolog B (Chlamydomonas)

Synonyms

4930526H21Rik, Rsph10b2

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143869853-143922537 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 143896564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 19 (G19R)

Ref Sequence

ENSEMBL: ENSMUSP00000148444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166847] [ENSMUST00000212711]

AlphaFold

E9PYQ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000166847
AA Change: G441R

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

SMART Domains

Protein: ENSMUSP00000132687
Gene: ENSMUSG00000075569
AA Change: G441R

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	39	50	N/A	INTRINSIC
low complexity region	63	75	N/A	INTRINSIC
MORN	107	128	5.9e-7	SMART
MORN	130	151	9.35e-1	SMART
MORN	153	174	1.23e0	SMART
MORN	177	198	1.84e0	SMART
MORN	202	223	3.21e1	SMART
MORN	225	246	1.67e-6	SMART
MORN	249	270	1.85e1	SMART
MORN	282	303	2.71e-6	SMART
MORN	305	326	3.53e-5	SMART
low complexity region	409	420	N/A	INTRINSIC
low complexity region	629	649	N/A	INTRINSIC
coiled coil region	787	841	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167009

Predicted Effect

probably damaging
Transcript: ENSMUST00000212711
AA Change: G19R

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,602,659 (GRCm39)	V7E	possibly damaging	Het
Aars2	G	A	17: 45,825,535 (GRCm39)	G333S	probably damaging	Het
Aen	T	A	7: 78,555,592 (GRCm39)	I85N	probably damaging	Het
Ahnak	C	A	19: 8,985,389 (GRCm39)	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,568,487 (GRCm39)	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,151,284 (GRCm39)	W2R	probably damaging	Het
Caprin2	A	G	6: 148,779,390 (GRCm39)	I139T	probably benign	Het
Cdhr3	T	A	12: 33,103,474 (GRCm39)	N381I	probably damaging	Het
Cecr2	A	G	6: 120,735,011 (GRCm39)	Y721C	probably damaging	Het
Cfhr4	A	T	1: 139,680,749 (GRCm39)	C256*	probably null	Het
Cherp	G	T	8: 73,224,725 (GRCm39)	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,714 (GRCm39)		probably null	Het
Ctdp1	T	A	18: 80,502,512 (GRCm39)		probably null	Het
Cyp2c55	T	C	19: 39,007,111 (GRCm39)	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,432,117 (GRCm39)	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,717,627 (GRCm39)		probably benign	Het
Efcab8	T	C	2: 153,652,188 (GRCm39)	W466R	possibly damaging	Het
Ehd3	C	A	17: 74,112,408 (GRCm39)	N57K	probably benign	Het
Ern2	C	A	7: 121,772,495 (GRCm39)	K654N	probably damaging	Het
Fbh1	A	T	2: 11,753,257 (GRCm39)	F879L	probably benign	Het
Gde1	T	C	7: 118,291,004 (GRCm39)	D92G	probably null	Het
Heatr5b	A	G	17: 79,110,863 (GRCm39)	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,469,290 (GRCm39)	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,587,962 (GRCm39)		probably benign	Het
Itgb4	T	C	11: 115,888,963 (GRCm39)	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,435,620 (GRCm39)	I710N	probably damaging	Het
Kif1a	T	C	1: 92,947,705 (GRCm39)	K1578E	probably damaging	Het
Kif9	T	C	9: 110,346,902 (GRCm39)		probably null	Het
Kitl	T	C	10: 99,925,095 (GRCm39)	*57Q	probably null	Het
Lrat	C	A	3: 82,810,812 (GRCm39)	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,533,797 (GRCm39)	M1022K	probably benign	Het
Muc16	T	C	9: 18,566,895 (GRCm39)	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890 (GRCm39)	N171I	probably damaging	Het
Npas4	G	A	19: 5,036,403 (GRCm39)	T587I	probably damaging	Het
Oas3	A	G	5: 120,909,295 (GRCm39)	V217A	probably benign	Het
Or6c1b	A	G	10: 129,273,557 (GRCm39)	N292S	possibly damaging	Het
Osbp	C	A	19: 11,955,317 (GRCm39)	A323D	possibly damaging	Het
Panx2	G	A	15: 88,951,821 (GRCm39)	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Piezo2	T	C	18: 63,254,341 (GRCm39)	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,517,360 (GRCm39)	T476A	probably damaging	Het
Plekha4	T	C	7: 45,203,226 (GRCm39)		probably benign	Het
Ppfibp2	T	C	7: 107,280,969 (GRCm39)	S94P	probably damaging	Het
Pramel7	T	A	2: 87,320,007 (GRCm39)	I429L	probably benign	Het
Rif1	A	G	2: 51,975,065 (GRCm39)	K325E	probably damaging	Het
Ror2	T	C	13: 53,264,578 (GRCm39)	Y826C	probably damaging	Het
Slc20a1	A	G	2: 129,049,924 (GRCm39)	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,691,647 (GRCm39)	D630G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Trank1	T	C	9: 111,181,314 (GRCm39)		probably null	Het
Tspan10	T	A	11: 120,335,368 (GRCm39)	C159*	probably null	Het
Uba6	G	A	5: 86,312,624 (GRCm39)	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,601,659 (GRCm39)	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,305,983 (GRCm39)	N905S	probably benign	Het
Zfp831	T	C	2: 174,488,214 (GRCm39)	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,264,359 (GRCm39)	N452K	probably benign	Het

Other mutations in Rsph10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Rsph10b	APN	5	143,873,905 (GRCm39)	makesense	probably null
K7894:Rsph10b	UTSW	5	143,881,338 (GRCm39)	missense	probably damaging	1.00
R0136:Rsph10b	UTSW	5	143,896,639 (GRCm39)	missense	probably benign	0.05
R0149:Rsph10b	UTSW	5	143,875,727 (GRCm39)	unclassified	probably benign
R0326:Rsph10b	UTSW	5	143,903,946 (GRCm39)	missense	probably damaging	1.00
R0558:Rsph10b	UTSW	5	143,886,156 (GRCm39)	missense	probably benign	0.02
R1185:Rsph10b	UTSW	5	143,903,280 (GRCm39)	splice site	probably benign
R1185:Rsph10b	UTSW	5	143,903,280 (GRCm39)	splice site	probably benign
R1712:Rsph10b	UTSW	5	143,873,967 (GRCm39)	missense	probably damaging	0.96
R1832:Rsph10b	UTSW	5	143,903,997 (GRCm39)	missense	possibly damaging	0.79
R1909:Rsph10b	UTSW	5	143,922,309 (GRCm39)	missense	probably benign	0.09
R2044:Rsph10b	UTSW	5	143,904,068 (GRCm39)	splice site	probably null
R2155:Rsph10b	UTSW	5	143,898,074 (GRCm39)	missense	probably benign	0.05
R2842:Rsph10b	UTSW	5	143,916,710 (GRCm39)	missense	possibly damaging	0.81
R3805:Rsph10b	UTSW	5	143,895,206 (GRCm39)	critical splice donor site	probably null
R4031:Rsph10b	UTSW	5	143,922,486 (GRCm39)	splice site	probably null
R4792:Rsph10b	UTSW	5	143,874,135 (GRCm39)	missense	probably damaging	1.00
R4866:Rsph10b	UTSW	5	143,885,347 (GRCm39)	missense	probably benign	0.28
R6090:Rsph10b	UTSW	5	143,913,946 (GRCm39)	missense	probably benign	0.00
R6252:Rsph10b	UTSW	5	143,873,939 (GRCm39)	missense	possibly damaging	0.70
R6518:Rsph10b	UTSW	5	143,900,691 (GRCm39)	missense	probably damaging	1.00
R7085:Rsph10b	UTSW	5	143,886,102 (GRCm39)	missense	possibly damaging	0.82
R7206:Rsph10b	UTSW	5	143,898,010 (GRCm39)	missense	possibly damaging	0.86
R7337:Rsph10b	UTSW	5	143,898,033 (GRCm39)	missense	probably benign	0.11
R7353:Rsph10b	UTSW	5	143,904,038 (GRCm39)	missense	possibly damaging	0.73
R7567:Rsph10b	UTSW	5	143,886,244 (GRCm39)	missense	possibly damaging	0.78
R8022:Rsph10b	UTSW	5	143,904,050 (GRCm39)	missense	probably benign	0.00
R8109:Rsph10b	UTSW	5	143,922,348 (GRCm39)	missense	probably benign	0.00
R8275:Rsph10b	UTSW	5	143,903,323 (GRCm39)	missense	possibly damaging	0.50
R8679:Rsph10b	UTSW	5	143,887,112 (GRCm39)	missense	possibly damaging	0.80
R8947:Rsph10b	UTSW	5	143,913,952 (GRCm39)	missense	probably benign	0.01
R9020:Rsph10b	UTSW	5	143,922,283 (GRCm39)	missense	probably benign	0.05
R9189:Rsph10b	UTSW	5	143,896,504 (GRCm39)	missense	probably benign	0.05
R9319:Rsph10b	UTSW	5	143,903,337 (GRCm39)	missense	probably benign	0.00
Z1177:Rsph10b	UTSW	5	143,913,952 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGTACACACAGCATCCCAG -3'
(R):5'- CTTAGCTCGTTTCAGGGCAG -3'

Sequencing Primer
(F):5'- CTAGAAACTGAGCTGAGGTCCC -3'
(R):5'- CTCGTTTCAGGGCAGCAATAG -3'

Posted On

2018-02-28