Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01973:Rnf215'

182566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf215

Ensembl Gene

ENSMUSG00000003581

Gene Name

ring finger protein 215

Synonyms

0610009J22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01973

Quality Score

Status

Chromosome

Chromosomal Location

4085202-4091172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4086615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 164 (H164L)

Ref Sequence

ENSEMBL: ENSMUSP00000117540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003677] [ENSMUST00000093381] [ENSMUST00000101626] [ENSMUST00000124670] [ENSMUST00000145705]

AlphaFold

Q5SPX3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003677
AA Change: H164L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003677
Gene: ENSMUSG00000003581
AA Change: H164L

Domain	Start	End	E-Value	Type
signal peptide	1	45	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
low complexity region	149	162	N/A	INTRINSIC
low complexity region	274	285	N/A	INTRINSIC
RING	327	367	6.89e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093381

SMART Domains

Protein: ENSMUSP00000091074
Gene: ENSMUSG00000051427

Domain	Start	End	E-Value	Type
low complexity region	76	88	N/A	INTRINSIC
low complexity region	321	343	N/A	INTRINSIC
low complexity region	385	414	N/A	INTRINSIC
SCOP:d1fxkc_	452	595	4e-5	SMART
low complexity region	639	659	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101626

SMART Domains

Protein: ENSMUSP00000099148
Gene: ENSMUSG00000051427

Domain	Start	End	E-Value	Type
low complexity region	219	241	N/A	INTRINSIC
low complexity region	283	312	N/A	INTRINSIC
SCOP:d1fxkc_	350	493	3e-4	SMART
low complexity region	537	557	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000124670
AA Change: H113L

SMART Domains

Protein: ENSMUSP00000114532
Gene: ENSMUSG00000003581
AA Change: H113L

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
low complexity region	87	111	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137060

Predicted Effect

probably damaging
Transcript: ENSMUST00000145705
AA Change: H164L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117540
Gene: ENSMUSG00000003581
AA Change: H164L

Domain	Start	End	E-Value	Type
signal peptide	1	45	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
low complexity region	149	162	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175339

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,061,172 (GRCm39)	W59R	probably damaging	Het
Adam17	C	T	12: 21,399,944 (GRCm39)	R154K	probably damaging	Het
Ajm1	G	T	2: 25,469,584 (GRCm39)	S109*	probably null	Het
Atp9b	A	T	18: 80,801,518 (GRCm39)	F791I	probably benign	Het
Atr	T	G	9: 95,753,727 (GRCm39)	S776R	probably damaging	Het
AW554918	A	T	18: 25,553,056 (GRCm39)	T487S	probably damaging	Het
Bckdhb	T	A	9: 83,873,789 (GRCm39)	F217Y	probably benign	Het
Cacna1i	G	A	15: 80,266,234 (GRCm39)	A1574T	probably damaging	Het
Ccdc150	G	A	1: 54,339,647 (GRCm39)		probably null	Het
Clca4c-ps	A	T	3: 144,585,593 (GRCm39)		noncoding transcript	Het
Clec4a1	T	C	6: 122,907,680 (GRCm39)	S123P	probably damaging	Het
Col6a4	T	C	9: 105,940,093 (GRCm39)	Y1279C	probably damaging	Het
Cox8c	T	A	12: 102,865,626 (GRCm39)	M1K	probably null	Het
Crat	G	T	2: 30,295,493 (GRCm39)	S370Y	probably damaging	Het
Cts7	A	T	13: 61,503,414 (GRCm39)	D183E	probably benign	Het
Cyp1a2	C	A	9: 57,589,678 (GRCm39)	W45C	probably damaging	Het
Eml5	T	A	12: 98,829,539 (GRCm39)	I492L	probably benign	Het
Fbxl4	T	G	4: 22,422,766 (GRCm39)	L456R	probably damaging	Het
Flt1	G	T	5: 147,620,699 (GRCm39)	H148Q	probably benign	Het
Galnt3	T	C	2: 65,914,606 (GRCm39)	M604V	probably benign	Het
Gatb	T	C	3: 85,518,731 (GRCm39)	V279A	probably damaging	Het
Heatr1	C	A	13: 12,444,680 (GRCm39)	H1543Q	probably benign	Het
Ighg2b	C	T	12: 113,271,305 (GRCm39)	V83I	unknown	Het
Jcad	A	G	18: 4,675,514 (GRCm39)	Q1092R	probably benign	Het
Kirrel3	A	G	9: 34,927,764 (GRCm39)	E6G	probably damaging	Het
Klhl22	A	G	16: 17,610,575 (GRCm39)	S609G	probably benign	Het
Kntc1	A	G	5: 123,904,021 (GRCm39)	Y346C	probably damaging	Het
Maneal	T	C	4: 124,752,948 (GRCm39)	D233G	probably benign	Het
Mcm3ap	T	C	10: 76,306,951 (GRCm39)	S355P	probably benign	Het
Mtus2	C	T	5: 148,240,286 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,575,383 (GRCm39)	T1380A	probably benign	Het
Nedd4	T	A	9: 72,644,216 (GRCm39)	M661K	possibly damaging	Het
Nomo1	T	C	7: 45,732,651 (GRCm39)		probably benign	Het
Ntmt2	A	G	1: 163,544,689 (GRCm39)	I98T	probably benign	Het
Ntsr2	T	A	12: 16,706,775 (GRCm39)	W268R	probably benign	Het
Nup188	A	C	2: 30,229,862 (GRCm39)	Q1360P	possibly damaging	Het
Or2c1	A	T	16: 3,657,641 (GRCm39)	Q268L	probably damaging	Het
Or6k6	A	G	1: 173,945,099 (GRCm39)	F161S	probably damaging	Het
Pabpc1	A	T	15: 36,599,519 (GRCm39)	V392E	probably benign	Het
Pcdhb11	C	A	18: 37,556,565 (GRCm39)	R632S	probably damaging	Het
Phf11	A	G	14: 59,488,578 (GRCm39)	V73A	probably benign	Het
Pnpla6	T	A	8: 3,567,619 (GRCm39)	M87K	probably damaging	Het
Prkd1	C	T	12: 50,413,162 (GRCm39)	G670R	probably damaging	Het
Raf1	G	A	6: 115,653,530 (GRCm39)		probably benign	Het
Rapgef2	T	A	3: 78,999,116 (GRCm39)		probably null	Het
Slc24a3	T	C	2: 145,086,947 (GRCm39)	V19A	probably benign	Het
Tbc1d16	A	T	11: 119,047,533 (GRCm39)	V396E	probably benign	Het
Tecpr1	T	C	5: 144,134,806 (GRCm39)		probably benign	Het
Thap12	T	A	7: 98,365,706 (GRCm39)	Y625N	possibly damaging	Het
Tshz2	A	T	2: 169,726,603 (GRCm39)	M400L	probably damaging	Het
Ttc28	A	G	5: 111,372,101 (GRCm39)	Y850C	possibly damaging	Het
Ugt1a7c	A	G	1: 88,022,856 (GRCm39)	D5G	probably benign	Het
Vmn2r10	C	T	5: 109,143,543 (GRCm39)	M802I	probably damaging	Het
Washc4	T	C	10: 83,391,973 (GRCm39)	Y220H	probably damaging	Het
Zfhx3	T	A	8: 109,673,825 (GRCm39)	M1625K	probably damaging	Het
Zfp677	T	A	17: 21,617,169 (GRCm39)	N75K	probably damaging	Het
Zzz3	T	C	3: 152,134,007 (GRCm39)	V355A	probably benign	Het

Other mutations in Rnf215

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01958:Rnf215	APN	11	4,090,317 (GRCm39)	missense	probably damaging	1.00
IGL02664:Rnf215	APN	11	4,090,307 (GRCm39)	missense	probably damaging	0.98
IGL02724:Rnf215	APN	11	4,090,305 (GRCm39)	missense	probably damaging	1.00
IGL02986:Rnf215	APN	11	4,089,793 (GRCm39)	missense	probably damaging	0.99
IGL02988:Rnf215	UTSW	11	4,086,785 (GRCm39)	missense	probably damaging	0.96
R0316:Rnf215	UTSW	11	4,089,760 (GRCm39)	missense	probably damaging	0.99
R0693:Rnf215	UTSW	11	4,090,401 (GRCm39)	critical splice donor site	probably null
R1297:Rnf215	UTSW	11	4,089,806 (GRCm39)	missense	possibly damaging	0.60
R1519:Rnf215	UTSW	11	4,085,451 (GRCm39)	missense	probably damaging	0.97
R1584:Rnf215	UTSW	11	4,086,719 (GRCm39)	missense	probably damaging	0.99
R1778:Rnf215	UTSW	11	4,085,873 (GRCm39)	nonsense	probably null
R5444:Rnf215	UTSW	11	4,085,843 (GRCm39)	missense	probably benign	0.36
R5623:Rnf215	UTSW	11	4,085,453 (GRCm39)	missense	probably benign	0.00
R5964:Rnf215	UTSW	11	4,085,898 (GRCm39)	missense	probably benign	0.01
R6823:Rnf215	UTSW	11	4,086,609 (GRCm39)	missense	probably damaging	1.00
R7346:Rnf215	UTSW	11	4,089,792 (GRCm39)	nonsense	probably null
R7635:Rnf215	UTSW	11	4,089,989 (GRCm39)	missense	probably damaging	1.00
R8210:Rnf215	UTSW	11	4,085,544 (GRCm39)	missense	possibly damaging	0.95
R8739:Rnf215	UTSW	11	4,085,959 (GRCm39)	critical splice donor site	probably null

Posted On

2014-05-07