Mutagenetix > Incidental Mutation

Incidental Mutation 'R9319:Rsph10b'

706027

Institutional Source

Beutler Lab

Gene Symbol

Rsph10b

Ensembl Gene

ENSMUSG00000075569

Gene Name

radial spoke head 10 homolog B (Chlamydomonas)

Synonyms

4930526H21Rik, Rsph10b2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143869853-143922537 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 143903337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 611 (M611L)

Ref Sequence

ENSEMBL: ENSMUSP00000132687 (fasta)

Gene Model

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

AlphaFold

E9PYQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000166847
AA Change: M611L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132687
Gene: ENSMUSG00000075569
AA Change: M611L

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

probably benign
Transcript: ENSMUST00000212711
AA Change: M189L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,922,446 (GRCm39)	D811G	probably damaging	Het
Akap13	A	G	7: 75,258,836 (GRCm39)	T487A	probably benign	Het
Ankrd6	C	T	4: 32,806,324 (GRCm39)	S643N	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Camk2b	G	T	11: 5,927,814 (GRCm39)	P489Q	probably benign	Het
Cd22	T	A	7: 30,569,329 (GRCm39)	N596Y	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cobl	A	T	11: 12,203,648 (GRCm39)	V1018E	probably benign	Het
Cttn	T	C	7: 144,017,100 (GRCm39)	E34G	probably damaging	Het
Dhx15	G	A	5: 52,342,193 (GRCm39)	R42*	probably null	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dlst	G	T	12: 85,170,585 (GRCm39)	R238L	probably damaging	Het
Dnah7c	A	G	1: 46,521,168 (GRCm39)	E232G	possibly damaging	Het
Dsg1b	C	T	18: 20,531,004 (GRCm39)	Q452*	probably null	Het
Elovl3	A	G	19: 46,122,507 (GRCm39)	T102A	possibly damaging	Het
Epas1	A	G	17: 87,104,545 (GRCm39)	S10G	possibly damaging	Het
Fads2b	G	A	2: 85,320,757 (GRCm39)	R349C	probably damaging	Het
Fanca	T	C	8: 124,018,190 (GRCm39)	I613V	probably benign	Het
Fat1	T	A	8: 45,406,060 (GRCm39)	V937D	probably damaging	Het
Glipr1l1	G	T	10: 111,898,122 (GRCm39)	A76S	probably damaging	Het
Ino80	T	C	2: 119,205,005 (GRCm39)	D1507G	probably benign	Het
Ipo13	T	C	4: 117,769,585 (GRCm39)	D69G	probably benign	Het
Kif2c	T	C	4: 117,035,445 (GRCm39)		probably null	Het
Lrrc61	C	A	6: 48,545,228 (GRCm39)	T17K	probably damaging	Het
Ltk	C	A	2: 119,590,096 (GRCm39)	E43D	probably benign	Het
Mcm3ap	A	G	10: 76,318,638 (GRCm39)	T720A	probably damaging	Het
Mcoln2	T	A	3: 145,875,691 (GRCm39)	V81D	probably damaging	Het
Mturn	T	A	6: 54,658,780 (GRCm39)	V9D	probably benign	Het
Nrg1	T	C	8: 32,323,204 (GRCm39)	D249G	probably benign	Het
Ntng2	T	C	2: 29,091,121 (GRCm39)		probably benign	Het
Odad3	T	C	9: 21,906,203 (GRCm39)	D245G	probably damaging	Het
Pax3	T	A	1: 78,080,079 (GRCm39)	M436L	probably benign	Het
Pias4	G	A	10: 80,991,750 (GRCm39)	P53S	unknown	Het
Pkhd1l1	C	T	15: 44,392,974 (GRCm39)	R1770C	possibly damaging	Het
Plk1	C	A	7: 121,768,122 (GRCm39)	D447E	probably damaging	Het
Scart1	C	T	7: 139,807,940 (GRCm39)	P704S	possibly damaging	Het
Snrnp40	T	C	4: 130,256,545 (GRCm39)	L90P	possibly damaging	Het
Snu13	T	C	15: 81,928,218 (GRCm39)	T2A	probably benign	Het
Sptlc3	C	T	2: 139,478,730 (GRCm39)	A563V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmx3	A	G	18: 90,558,068 (GRCm39)	I373M	probably benign	Het
Tpbg	C	T	9: 85,725,991 (GRCm39)		probably benign	Het
Troap	T	C	15: 98,975,444 (GRCm39)	I176T	probably benign	Het
Trpm2	G	A	10: 77,778,776 (GRCm39)	Q397*	probably null	Het
Trpm2	A	T	10: 77,785,032 (GRCm39)	V196E	probably damaging	Het
Vac14	T	A	8: 111,361,018 (GRCm39)	I196N	probably damaging	Het
Vmn2r71	C	T	7: 85,273,694 (GRCm39)	P836L	probably damaging	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
R6255:Rsph10b	UTSW	5	143,896,564 (GRCm39)	missense	probably damaging	1.00
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
Z1177:Rsph10b	UTSW	5	143,913,952 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCGCTGTTTCACTAGAGAC -3'
(R):5'- AGGGCAGCTGTGTACATCTG -3'

Sequencing Primer
(F):5'- TTACTGACAGAGCCAGCTTG -3'
(R):5'- ACATCTGTACATCCCCCTGGG -3'

Posted On

2022-03-25