Mutagenetix > Incidental Mutation

Incidental Mutation 'R6022:Rnf150'

478998

Institutional Source

Beutler Lab

Gene Symbol

Rnf150

Ensembl Gene

ENSMUSG00000047747

Gene Name

ring finger protein 150

Synonyms

Greul5, A630007N06Rik, C030044C12Rik

MMRRC Submission

043256-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.496) question?

Stock #

R6022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83589985-83817897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83769358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 381 (V381A)

Ref Sequence

ENSEMBL: ENSMUSP00000077610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078525]

AlphaFold

Q5DTZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000078525
AA Change: V381A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000077610
Gene: ENSMUSG00000047747
AA Change: V381A

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
low complexity region	54	64	N/A	INTRINSIC
Pfam:PA	84	180	2.1e-12	PFAM
transmembrane domain	207	229	N/A	INTRINSIC
RING	277	317	1.29e-7	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,240,759 (GRCm39)	F874C	probably damaging	Het
Adam9	T	C	8: 25,493,321 (GRCm39)	T96A	possibly damaging	Het
Arhgef26	C	T	3: 62,336,360 (GRCm39)	T633M	probably damaging	Het
Atxn2l	A	G	7: 126,095,607 (GRCm39)		probably null	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Caskin1	T	A	17: 24,715,709 (GRCm39)	F158I	probably benign	Het
Ces1g	T	A	8: 94,055,085 (GRCm39)	N204I	probably damaging	Het
Chd1	A	G	17: 17,598,035 (GRCm39)	I41V	probably benign	Het
Crybg2	A	T	4: 133,801,584 (GRCm39)	K915*	probably null	Het
Dock4	T	C	12: 40,798,109 (GRCm39)	V911A	probably benign	Het
Dok5	A	G	2: 170,721,142 (GRCm39)	Y302C	probably damaging	Het
Dpysl4	A	T	7: 138,666,000 (GRCm39)		probably benign	Het
Dsc3	A	C	18: 20,099,395 (GRCm39)	V707G	probably damaging	Het
Endog	A	G	2: 30,062,921 (GRCm39)	Y187C	possibly damaging	Het
Fcrl5	A	G	3: 87,363,070 (GRCm39)	T526A	probably benign	Het
Gcat	T	C	15: 78,926,478 (GRCm39)	V116A	probably damaging	Het
Herc1	A	G	9: 66,390,967 (GRCm39)	D3975G	probably damaging	Het
Jmy	G	T	13: 93,590,086 (GRCm39)		probably null	Het
Kif1b	T	C	4: 149,282,989 (GRCm39)	I1273V	probably benign	Het
Lrriq1	G	T	10: 103,051,395 (GRCm39)	N452K	possibly damaging	Het
Lrrn3	T	C	12: 41,503,429 (GRCm39)	E296G	probably damaging	Het
Marco	G	A	1: 120,416,294 (GRCm39)	L208F	probably benign	Het
Mme	T	A	3: 63,272,218 (GRCm39)	W606R	probably damaging	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Phc3	A	G	3: 30,984,174 (GRCm39)	S647P	probably damaging	Het
Prx	A	G	7: 27,216,998 (GRCm39)	K500E	probably damaging	Het
Ptpn22	T	A	3: 103,793,421 (GRCm39)	V524E	probably benign	Het
Ptprj	A	T	2: 90,301,667 (GRCm39)	I155K	probably benign	Het
Rad51ap2	A	G	12: 11,508,523 (GRCm39)	E815G	probably damaging	Het
Rnf213	A	G	11: 119,376,836 (GRCm39)	K5103R	probably benign	Het
Speer4a2	T	G	5: 26,289,677 (GRCm39)	E250A	probably benign	Het
Tecpr1	A	T	5: 144,136,009 (GRCm39)	W961R	possibly damaging	Het
Tnn	A	T	1: 159,937,928 (GRCm39)	D932E	probably benign	Het
Tram2	G	A	1: 21,149,361 (GRCm39)		probably benign	Het
Trbv26	T	A	6: 41,204,509 (GRCm39)		probably benign	Het
Trmt11	A	G	10: 30,463,497 (GRCm39)	I206T	possibly damaging	Het
Ttk	T	C	9: 83,721,375 (GRCm39)	Y87H	probably damaging	Het
Uri1	A	T	7: 37,660,902 (GRCm39)		probably benign	Het
Vmn1r173	A	G	7: 23,402,260 (GRCm39)	D165G	probably benign	Het
Xpc	A	G	6: 91,476,618 (GRCm39)	S494P	probably damaging	Het
Zfp438	T	A	18: 5,213,419 (GRCm39)	N513I	probably damaging	Het

Other mutations in Rnf150

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Rnf150	APN	8	83,730,234 (GRCm39)	missense	probably damaging	0.96
R0512:Rnf150	UTSW	8	83,590,807 (GRCm39)	missense	probably benign	0.01
R1848:Rnf150	UTSW	8	83,590,639 (GRCm39)	start codon destroyed	possibly damaging	0.67
R2078:Rnf150	UTSW	8	83,730,234 (GRCm39)	missense	probably damaging	0.96
R2192:Rnf150	UTSW	8	83,591,020 (GRCm39)	missense	probably damaging	0.98
R3918:Rnf150	UTSW	8	83,591,090 (GRCm39)	missense	probably benign	0.25
R4365:Rnf150	UTSW	8	83,590,744 (GRCm39)	missense	probably benign	0.05
R4781:Rnf150	UTSW	8	83,590,781 (GRCm39)	missense	probably damaging	1.00
R4810:Rnf150	UTSW	8	83,716,991 (GRCm39)	missense	possibly damaging	0.66
R4859:Rnf150	UTSW	8	83,590,712 (GRCm39)	missense	probably damaging	1.00
R5677:Rnf150	UTSW	8	83,730,228 (GRCm39)	nonsense	probably null
R6241:Rnf150	UTSW	8	83,591,093 (GRCm39)	missense	possibly damaging	0.82
R6283:Rnf150	UTSW	8	83,717,183 (GRCm39)	missense	probably damaging	1.00
R6306:Rnf150	UTSW	8	83,810,131 (GRCm39)	missense	possibly damaging	0.90
R7014:Rnf150	UTSW	8	83,769,292 (GRCm39)	missense	probably benign
R7023:Rnf150	UTSW	8	83,590,706 (GRCm39)	missense	probably damaging	0.97
R7394:Rnf150	UTSW	8	83,717,100 (GRCm39)	nonsense	probably null
R7710:Rnf150	UTSW	8	83,590,781 (GRCm39)	missense	probably damaging	1.00
R7771:Rnf150	UTSW	8	83,590,832 (GRCm39)	missense	probably benign	0.00
R8073:Rnf150	UTSW	8	83,590,546 (GRCm39)	start gained	probably benign
R8856:Rnf150	UTSW	8	83,762,715 (GRCm39)	missense	probably damaging	1.00
R8980:Rnf150	UTSW	8	83,717,087 (GRCm39)	missense	probably benign	0.19
R9139:Rnf150	UTSW	8	83,590,588 (GRCm39)	start gained	probably benign
R9289:Rnf150	UTSW	8	83,716,982 (GRCm39)	missense	probably benign
R9410:Rnf150	UTSW	8	83,762,722 (GRCm39)	missense	possibly damaging	0.91
R9594:Rnf150	UTSW	8	83,717,144 (GRCm39)	missense	probably damaging	1.00
R9603:Rnf150	UTSW	8	83,717,208 (GRCm39)	missense	possibly damaging	0.64
R9763:Rnf150	UTSW	8	83,732,968 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGATGTAGGCATTGCATCTC -3'
(R):5'- TTGGAGGCCATATTTCAGCC -3'

Sequencing Primer
(F):5'- GGCATTGCATCTCTAAAATGAGG -3'
(R):5'- AGCGTTTAACAGGTATGCCC -3'

Posted On

2017-06-26