Mutagenetix > Incidental Mutation

Incidental Mutation 'R4541:Rnf225'

333531

Institutional Source

Beutler Lab

Gene Symbol

Rnf225

Ensembl Gene

ENSMUSG00000033967

Gene Name

ring finger protein 225

Synonyms

2310014L17Rik

MMRRC Submission

041777-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12661343-12664999 bp(+) (GRCm39)

Type of Mutation

splice site (2001 bp from exon)

DNA Base Change (assembly)

T to C at 12662520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004554] [ENSMUST00000045870] [ENSMUST00000108539] [ENSMUST00000137329] [ENSMUST00000147435]

AlphaFold

Q9D7D1

Predicted Effect

probably null
Transcript: ENSMUST00000004554

SMART Domains

Protein: ENSMUSP00000004554
Gene: ENSMUSG00000012848

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S7	49	204	3.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045870
AA Change: V233A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042816
Gene: ENSMUSG00000033967
AA Change: V233A

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
RING	63	110	2.91e-6	SMART
low complexity region	150	170	N/A	INTRINSIC
low complexity region	175	196	N/A	INTRINSIC
transmembrane domain	202	224	N/A	INTRINSIC
low complexity region	266	278	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083072

Predicted Effect

probably null
Transcript: ENSMUST00000108539

SMART Domains

Protein: ENSMUSP00000104179
Gene: ENSMUSG00000012848

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S7	51	204	1.8e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137329

SMART Domains

Protein: ENSMUSP00000121961
Gene: ENSMUSG00000012848

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S7	49	182	1.2e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139349

Predicted Effect

probably benign
Transcript: ENSMUST00000147435

SMART Domains

Protein: ENSMUSP00000118798
Gene: ENSMUSG00000012848

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S7	49	182	1.2e-34	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,769,676 (GRCm39)	P73S	probably benign	Het
4930533L02Rik	G	A	7: 124,917,750 (GRCm39)		noncoding transcript	Het
Acot4	A	T	12: 84,090,022 (GRCm39)	I240F	probably benign	Het
B4galt6	A	G	18: 20,878,496 (GRCm39)	V10A	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Ccnb3	T	C	X: 6,875,308 (GRCm39)	T424A	probably benign	Het
Cd8a	A	T	6: 71,350,856 (GRCm39)	D107V	probably benign	Het
Cdca7l	T	C	12: 117,836,098 (GRCm39)	S190P	probably damaging	Het
Ceacam12	G	A	7: 17,805,648 (GRCm39)	M278I	probably benign	Het
Cfap43	C	T	19: 47,736,454 (GRCm39)	V1346I	probably benign	Het
Clic5	C	T	17: 44,552,956 (GRCm39)	T70M	probably damaging	Het
Dbpht2	A	T	12: 74,345,934 (GRCm39)		noncoding transcript	Het
Ddhd1	G	A	14: 45,860,313 (GRCm39)	R140*	probably null	Het
Evpl	T	G	11: 116,123,470 (GRCm39)	I301L	probably benign	Het
Glul	T	A	1: 153,778,782 (GRCm39)	Y30*	probably null	Het
Itgad	A	T	7: 127,797,287 (GRCm39)	H878L	probably benign	Het
Kcnk10	A	G	12: 98,402,536 (GRCm39)	I301T	probably damaging	Het
Klhl14	A	T	18: 21,687,696 (GRCm39)	Y575*	probably null	Het
Mrps2	G	T	2: 28,358,412 (GRCm39)		probably benign	Het
Mymx	GCC	GC	17: 45,912,519 (GRCm39)		probably null	Het
Napb	G	A	2: 148,551,229 (GRCm39)		probably benign	Het
Nlrp1c-ps	A	G	11: 71,171,706 (GRCm39)		noncoding transcript	Het
Or10g9b	A	C	9: 39,917,589 (GRCm39)	S219A	possibly damaging	Het
Or4f15	A	G	2: 111,813,981 (GRCm39)	I146T	probably benign	Het
Piwil4	C	A	9: 14,629,612 (GRCm39)	M438I	probably damaging	Het
Pla2r1	C	T	2: 60,258,082 (GRCm39)	D1199N	probably damaging	Het
Pmpca	T	G	2: 26,280,201 (GRCm39)		probably benign	Het
Prkcq	G	T	2: 11,288,623 (GRCm39)	M525I	possibly damaging	Het
Sco1	G	T	11: 66,943,668 (GRCm39)	A50S	probably benign	Het
Slc12a2	T	A	18: 58,046,037 (GRCm39)		probably null	Het
Slc36a1	T	C	11: 55,112,849 (GRCm39)	V148A	probably benign	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Tbc1d10c	G	T	19: 4,239,473 (GRCm39)	R96S	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,222 (GRCm39)	I919N	probably damaging	Het
Tcea1	T	C	1: 4,963,659 (GRCm39)	L233P	probably damaging	Het
Tlcd4	A	G	3: 121,028,884 (GRCm39)	M1T	probably null	Het
Tmem231	T	C	8: 112,641,224 (GRCm39)	T223A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tomm34	A	G	2: 163,896,719 (GRCm39)	Y243H	probably benign	Het
Tubgcp4	A	T	2: 121,025,907 (GRCm39)	N584I	probably benign	Het
Vldlr	T	C	19: 27,216,192 (GRCm39)	C7R	probably damaging	Het
Vmn1r42	A	T	6: 89,822,533 (GRCm39)	M12K	probably benign	Het
Vsig10	C	T	5: 117,490,881 (GRCm39)		probably benign	Het
Zfp974	C	G	7: 27,625,829 (GRCm39)	V14L	probably damaging	Het

Other mutations in Rnf225

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Rnf225	APN	7	12,662,827 (GRCm39)	unclassified	probably benign
R0033:Rnf225	UTSW	7	12,662,085 (GRCm39)	missense	probably damaging	1.00
R4741:Rnf225	UTSW	7	12,661,857 (GRCm39)	missense	probably benign	0.02
R5388:Rnf225	UTSW	7	12,661,932 (GRCm39)	missense	probably damaging	1.00
R7128:Rnf225	UTSW	7	12,661,911 (GRCm39)	missense	probably benign	0.03
Z1177:Rnf225	UTSW	7	12,662,172 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCTGTGCGCTTTGACCGAC -3'
(R):5'- TTTGGTAGCCTCCTCAAGC -3'

Sequencing Primer
(F):5'- CGAAAGAGCCGCACAGTGC -3'
(R):5'- TAGCCTCCTCAAGCTCGGG -3'

Posted On

2015-08-18