Mutagenetix > Incidental Mutation

Incidental Mutation 'R7918:Rnf223'

648178

Institutional Source

Beutler Lab

Gene Symbol

Rnf223

Ensembl Gene

ENSMUSG00000110404

Gene Name

ring finger 223

Synonyms

MMRRC Submission

045966-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R7918 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156214972-156217874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156217240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 205 (V205A)

Ref Sequence

ENSEMBL: ENSMUSP00000147415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000209248]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000209248
AA Change: V205A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	G	A	5: 130,413,269 (GRCm39)	T30I	unknown	Het
Adam21	A	G	12: 81,607,378 (GRCm39)	V128A	possibly damaging	Het
Adam26a	T	C	8: 44,022,566 (GRCm39)	Y308C	probably damaging	Het
Adam26b	A	G	8: 43,974,138 (GRCm39)	V288A	probably benign	Het
Ankrd29	A	C	18: 12,428,979 (GRCm39)	L30R	probably damaging	Het
Bank1	A	G	3: 135,799,123 (GRCm39)	I406T	probably damaging	Het
Cacna1g	A	G	11: 94,334,856 (GRCm39)	I817T	probably benign	Het
Catsperd	T	C	17: 56,938,564 (GRCm39)	F31L	probably benign	Het
Cep164	A	G	9: 45,690,986 (GRCm39)		probably null	Het
Clca4b	T	C	3: 144,619,033 (GRCm39)	Y702C	probably damaging	Het
Clstn1	A	G	4: 149,728,508 (GRCm39)	I655V	probably damaging	Het
Dock1	A	G	7: 134,747,147 (GRCm39)	E1486G	probably damaging	Het
Epha8	A	G	4: 136,661,877 (GRCm39)	F573L	probably benign	Het
Exoc1	A	G	5: 76,691,840 (GRCm39)	N323S	probably benign	Het
Exoc6b	C	T	6: 85,046,332 (GRCm39)	R19Q	probably damaging	Het
Gcsam	T	C	16: 45,440,502 (GRCm39)	*182R	probably null	Het
Ighv9-2	T	C	12: 114,072,911 (GRCm39)	I21V	probably benign	Het
Ints2	G	A	11: 86,113,043 (GRCm39)	T825M	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lad1	A	G	1: 135,757,454 (GRCm39)	T398A	probably benign	Het
Lrfn2	T	C	17: 49,378,212 (GRCm39)	V431A	probably damaging	Het
Mast2	T	C	4: 116,292,732 (GRCm39)	I79M	possibly damaging	Het
Nup107	A	G	10: 117,617,905 (GRCm39)	V171A	probably benign	Het
Or1e1c	T	C	11: 73,265,923 (GRCm39)	F119S	probably damaging	Het
Or8b101	T	A	9: 38,020,103 (GRCm39)	Y35*	probably null	Het
Or8g37	C	A	9: 39,731,406 (GRCm39)	T157K	probably damaging	Het
Pde4dip	T	A	3: 97,622,539 (GRCm39)	K1557*	probably null	Het
Plat	C	T	8: 23,263,655 (GRCm39)	P185S	probably damaging	Het
Plcg1	T	G	2: 160,595,585 (GRCm39)	V511G	probably damaging	Het
Plxnb3	C	T	X: 72,811,251 (GRCm39)	A1258V	probably benign	Het
Slc13a1	G	C	6: 24,118,065 (GRCm39)	T224R	probably benign	Het
Slc39a10	T	A	1: 46,874,912 (GRCm39)	H130L	possibly damaging	Het
Sucnr1	T	A	3: 59,993,790 (GRCm39)	I106N	probably damaging	Het
Syde2	T	C	3: 145,708,170 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,309,078 (GRCm39)	I644V	possibly damaging	Het
Tbc1d8	A	C	1: 39,441,809 (GRCm39)	F261C	probably damaging	Het
Tmem132e	A	G	11: 82,336,116 (GRCm39)	Y1066C	probably damaging	Het
Trip12	A	C	1: 84,722,784 (GRCm39)	I1322S	probably damaging	Het
Tsnaxip1	A	G	8: 106,571,167 (GRCm39)	I676V	probably benign	Het
Vmn1r231	A	T	17: 21,110,236 (GRCm39)	Y226*	probably null	Het
Vmn2r63	G	C	7: 42,552,955 (GRCm39)	A767G	probably damaging	Het
Wdr5b	A	G	16: 35,862,192 (GRCm39)	T104A	probably damaging	Het
Zbed5	T	C	5: 129,930,504 (GRCm39)	V151A	possibly damaging	Het
Zc3h7b	T	C	15: 81,653,189 (GRCm39)	F31S	probably damaging	Het
Zfp874b	A	T	13: 67,622,279 (GRCm39)	C340S	possibly damaging	Het
Zmym4	T	A	4: 126,804,797 (GRCm39)		probably null	Het

Other mutations in Rnf223

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6139:Rnf223	UTSW	4	156,217,260 (GRCm39)	missense	probably damaging	1.00
R6407:Rnf223	UTSW	4	156,216,816 (GRCm39)	missense	probably damaging	1.00
R7091:Rnf223	UTSW	4	156,217,156 (GRCm39)	missense	probably benign
R7649:Rnf223	UTSW	4	156,216,660 (GRCm39)	missense	probably benign
R7744:Rnf223	UTSW	4	156,216,982 (GRCm39)	missense	probably benign	0.01
R7976:Rnf223	UTSW	4	156,216,776 (GRCm39)	missense	probably damaging	1.00
R8350:Rnf223	UTSW	4	156,217,120 (GRCm39)	missense	probably damaging	0.98
R8450:Rnf223	UTSW	4	156,217,120 (GRCm39)	missense	probably damaging	0.98
R9211:Rnf223	UTSW	4	156,216,834 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCTGTGCCCTGTCCATTC -3'
(R):5'- CCAAGTGGTGACCCTAGTTG -3'

Sequencing Primer
(F):5'- ACCAAACTGTGTTGCCGC -3'
(R):5'- CTAGTTGTTGGCTAAGACCCCAAAG -3'

Posted On

2020-09-15