Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00487:Rnf157'

13838

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf157

Ensembl Gene

ENSMUSG00000052949

Gene Name

ring finger protein 157

Synonyms

A130073L17Rik, 2610036E23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00487

Quality Score

Status

Chromosome

Chromosomal Location

116336353-116413032 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116362355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 76 (P76S)

Ref Sequence

ENSEMBL: ENSMUSP00000102006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100202] [ENSMUST00000106398]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000100202
AA Change: P76S

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097776
Gene: ENSMUSG00000052949
AA Change: P76S

Domain	Start	End	E-Value	Type
RING	277	315	5.64e-4	SMART
low complexity region	345	358	N/A	INTRINSIC
low complexity region	427	444	N/A	INTRINSIC
low complexity region	446	457	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106398
AA Change: P76S

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102006
Gene: ENSMUSG00000052949
AA Change: P76S

Domain	Start	End	E-Value	Type
RING	277	315	5.64e-4	SMART
low complexity region	345	358	N/A	INTRINSIC
low complexity region	427	444	N/A	INTRINSIC
low complexity region	446	457	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC
low complexity region	563	574	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142758

Predicted Effect

probably benign
Transcript: ENSMUST00000149147

SMART Domains

Protein: ENSMUSP00000122483
Gene: ENSMUSG00000052949

Domain	Start	End	E-Value	Type
RING	102	140	5.64e-4	SMART
low complexity region	170	183	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	377	387	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: The gene supports neuronal survival and dendrite growth and maintenance and knockdown with siRNA induces apoptosis in neuronal tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,309,450		probably null	Het
Dusp23	T	C	1: 172,631,632		probably benign	Het
Invs	C	T	4: 48,407,689	Q555*	probably null	Het
Mak16	T	C	8: 31,166,750	N9D	probably benign	Het
Mrps7	T	C	11: 115,604,858	I74T	possibly damaging	Het
Nlrp4a	T	G	7: 26,449,985	V339G	possibly damaging	Het
Nucb1	A	G	7: 45,501,651	L102P	probably damaging	Het
Pdp2	T	C	8: 104,594,197	M226T	probably benign	Het
Pik3r2	T	C	8: 70,770,429	D449G	probably damaging	Het
Senp6	C	A	9: 80,113,838	Q267K	probably damaging	Het
Slc9a2	A	G	1: 40,742,658	E349G	probably damaging	Het
Snx14	G	T	9: 88,402,190	S475Y	probably damaging	Het
Vmn1r180	A	T	7: 23,952,523	H37L	probably benign	Het
Wdr66	T	G	5: 123,274,177	I84S	probably damaging	Het
Xrn1	A	T	9: 96,038,949	H1371L	probably benign	Het

Other mutations in Rnf157

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Rnf157	APN	11	116350086	missense	probably benign	0.00
IGL01955:Rnf157	APN	11	116359896	missense	probably damaging	0.96
IGL02010:Rnf157	APN	11	116396226	missense	probably damaging	1.00
IGL02194:Rnf157	APN	11	116347032	critical splice donor site	probably null
IGL03092:Rnf157	APN	11	116347969	critical splice acceptor site	probably null
PIT4362001:Rnf157	UTSW	11	116360317	missense	probably damaging	1.00
R0022:Rnf157	UTSW	11	116349450	unclassified	probably benign
R0022:Rnf157	UTSW	11	116349450	unclassified	probably benign
R0036:Rnf157	UTSW	11	116396302	missense	probably damaging	1.00
R0164:Rnf157	UTSW	11	116354810	splice site	probably benign
R1476:Rnf157	UTSW	11	116354759	missense	probably damaging	1.00
R1509:Rnf157	UTSW	11	116347095	missense	probably benign
R1544:Rnf157	UTSW	11	116354362	splice site	probably null
R1654:Rnf157	UTSW	11	116358715	missense	probably damaging	1.00
R1820:Rnf157	UTSW	11	116354651	missense	probably damaging	1.00
R2133:Rnf157	UTSW	11	116358694	missense	possibly damaging	0.93
R4017:Rnf157	UTSW	11	116359241	critical splice donor site	probably null
R4590:Rnf157	UTSW	11	116359272	missense	probably damaging	1.00
R4872:Rnf157	UTSW	11	116355472	missense	possibly damaging	0.93
R4891:Rnf157	UTSW	11	116358670	missense	probably damaging	1.00
R5608:Rnf157	UTSW	11	116396320	splice site	probably null
R5870:Rnf157	UTSW	11	116347074	missense	probably benign
R7171:Rnf157	UTSW	11	116362373	missense	possibly damaging	0.83
R7376:Rnf157	UTSW	11	116360366	missense	probably benign	0.35
R8178:Rnf157	UTSW	11	116347481	missense	possibly damaging	0.71
R8356:Rnf157	UTSW	11	116349420	missense	probably benign	0.11
R8456:Rnf157	UTSW	11	116349420	missense	probably benign	0.11
R8714:Rnf157	UTSW	11	116347065	missense	probably benign	0.00
R9312:Rnf157	UTSW	11	116349332	critical splice donor site	probably null
R9313:Rnf157	UTSW	11	116359892	missense	probably damaging	0.99
R9579:Rnf157	UTSW	11	116349996	missense	probably benign
R9641:Rnf157	UTSW	11	116412750	missense	probably benign	0.12
X0020:Rnf157	UTSW	11	116360308	missense	probably damaging	1.00

Posted On

2012-12-06