Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02010:Rnf157'

183319

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 #

IGL02010

Quality Score

Status

Chromosome

Chromosomal Location

116227179-116303858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116287052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 57 (N57I)

Ref Sequence

ENSEMBL: ENSMUSP00000102006 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000100202
AA Change: N57I

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

SMART Domains

Protein: ENSMUSP00000097776
Gene: ENSMUSG00000052949
AA Change: N57I

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 damaging
Transcript: ENSMUST00000106398
AA Change: N57I

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

SMART Domains

Protein: ENSMUSP00000102006
Gene: ENSMUSG00000052949
AA Change: N57I

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,110,442 (GRCm39)	D569G	probably benign	Het
Abhd17b	C	T	19: 21,661,485 (GRCm39)	T224I	probably benign	Het
Atf6b	T	A	17: 34,873,626 (GRCm39)	S695R	probably benign	Het
Cdh6	A	C	15: 13,034,276 (GRCm39)		probably benign	Het
Cep290	G	T	10: 100,344,569 (GRCm39)	C462F	probably benign	Het
Cep290	T	C	10: 100,397,207 (GRCm39)	S2156P	probably benign	Het
Cfap20dc	A	T	14: 8,578,384 (GRCm38)	H119Q	possibly damaging	Het
Cit	T	C	5: 116,014,006 (GRCm39)	F240L	probably damaging	Het
Col1a2	T	A	6: 4,512,416 (GRCm39)		probably null	Het
Ctcf	T	A	8: 106,391,597 (GRCm39)	H297Q	probably damaging	Het
Dhx29	T	C	13: 113,103,168 (GRCm39)		probably null	Het
Dhx37	T	G	5: 125,495,777 (GRCm39)	T835P	possibly damaging	Het
Enc1	C	T	13: 97,381,588 (GRCm39)	L33F	possibly damaging	Het
Epyc	T	A	10: 97,485,563 (GRCm39)	M1K	probably null	Het
F10	T	C	8: 13,098,292 (GRCm39)	I165T	probably damaging	Het
Fam124a	T	C	14: 62,824,728 (GRCm39)	L74P	probably damaging	Het
Fam234b	A	G	6: 135,186,405 (GRCm39)	S138G	probably benign	Het
Fam81a	T	C	9: 70,006,419 (GRCm39)	K198E	probably benign	Het
Fbn2	T	C	18: 58,170,794 (GRCm39)	Y2199C	probably damaging	Het
Fign	A	C	2: 63,810,744 (GRCm39)	S175R	probably damaging	Het
Grik1	T	C	16: 87,848,396 (GRCm39)	N124S	possibly damaging	Het
Hdac9	G	T	12: 34,481,944 (GRCm39)	L175M	probably damaging	Het
Hephl1	A	C	9: 15,001,852 (GRCm39)	Y163*	probably null	Het
Hes1	G	A	16: 29,886,128 (GRCm39)	G244D	probably damaging	Het
Hexb	A	G	13: 97,313,353 (GRCm39)	L501P	probably benign	Het
Igkv5-43	T	C	6: 69,752,936 (GRCm39)	I49V	probably benign	Het
Ipo5	T	C	14: 121,170,789 (GRCm39)	S491P	probably benign	Het
Jakmip2	C	T	18: 43,692,158 (GRCm39)		probably null	Het
Lrfn5	A	G	12: 61,886,469 (GRCm39)	T86A	probably damaging	Het
Lrp1b	T	C	2: 41,358,954 (GRCm39)	T640A	probably damaging	Het
M6pr	G	T	6: 122,292,085 (GRCm39)	R139L	possibly damaging	Het
Myl9	A	T	2: 156,620,579 (GRCm39)	N39Y	probably damaging	Het
Nlrp3	A	G	11: 59,440,361 (GRCm39)	D646G	probably benign	Het
Nlrp5	A	T	7: 23,116,797 (GRCm39)	M174L	probably benign	Het
Nnmt	T	A	9: 48,503,331 (GRCm39)	I232F	probably damaging	Het
Nrg1	T	C	8: 32,408,171 (GRCm39)	T21A	probably benign	Het
Or5t15	C	T	2: 86,681,541 (GRCm39)	C167Y	possibly damaging	Het
Or6c65	A	G	10: 129,604,136 (GRCm39)	Y257C	probably benign	Het
Pcare	T	A	17: 72,056,459 (GRCm39)	T1073S	probably benign	Het
Pcdh7	T	G	5: 58,286,597 (GRCm39)	N1224K	probably benign	Het
Pde4a	T	C	9: 21,114,850 (GRCm39)		probably null	Het
Pfkfb3	T	C	2: 11,488,805 (GRCm39)	T320A	probably benign	Het
Plekhm2	T	C	4: 141,364,730 (GRCm39)		probably benign	Het
Rabgap1l	C	T	1: 160,299,641 (GRCm39)	R584H	probably damaging	Het
Rtf1	G	A	2: 119,531,747 (GRCm39)		probably null	Het
Sap130	C	A	18: 31,782,655 (GRCm39)	R189S	probably damaging	Het
Slc34a1	T	G	13: 24,003,025 (GRCm39)	V225G	probably benign	Het
Smg1	T	C	7: 117,785,369 (GRCm39)		probably benign	Het
Tecta	G	A	9: 42,248,489 (GRCm39)	T1971I	probably damaging	Het
Tlcd5	A	T	9: 43,022,859 (GRCm39)	V165E	probably damaging	Het
Tmem263	T	A	10: 84,950,274 (GRCm39)	S22T	probably benign	Het
Tnrc18	A	T	5: 142,773,049 (GRCm39)	F410L	unknown	Het
Ttc27	T	G	17: 75,087,906 (GRCm39)		probably benign	Het
Vmn1r45	A	T	6: 89,910,668 (GRCm39)	C101S	probably damaging	Het
Wdr17	T	C	8: 55,112,738 (GRCm39)	K781E	probably damaging	Het
Xkr6	C	T	14: 64,056,653 (GRCm39)	T188M	probably benign	Het

Other mutations in Rnf157

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Rnf157	APN	11	116,253,181 (GRCm39)	missense	probably benign	0.20
IGL01146:Rnf157	APN	11	116,240,912 (GRCm39)	missense	probably benign	0.00
IGL01955:Rnf157	APN	11	116,250,722 (GRCm39)	missense	probably damaging	0.96
IGL02194:Rnf157	APN	11	116,237,858 (GRCm39)	critical splice donor site	probably null
IGL03092:Rnf157	APN	11	116,238,795 (GRCm39)	critical splice acceptor site	probably null
PIT4362001:Rnf157	UTSW	11	116,251,143 (GRCm39)	missense	probably damaging	1.00
R0022:Rnf157	UTSW	11	116,240,276 (GRCm39)	unclassified	probably benign
R0022:Rnf157	UTSW	11	116,240,276 (GRCm39)	unclassified	probably benign
R0036:Rnf157	UTSW	11	116,287,128 (GRCm39)	missense	probably damaging	1.00
R0164:Rnf157	UTSW	11	116,245,636 (GRCm39)	splice site	probably benign
R1476:Rnf157	UTSW	11	116,245,585 (GRCm39)	missense	probably damaging	1.00
R1509:Rnf157	UTSW	11	116,237,921 (GRCm39)	missense	probably benign
R1544:Rnf157	UTSW	11	116,245,188 (GRCm39)	splice site	probably null
R1654:Rnf157	UTSW	11	116,249,541 (GRCm39)	missense	probably damaging	1.00
R1820:Rnf157	UTSW	11	116,245,477 (GRCm39)	missense	probably damaging	1.00
R2133:Rnf157	UTSW	11	116,249,520 (GRCm39)	missense	possibly damaging	0.93
R4017:Rnf157	UTSW	11	116,250,067 (GRCm39)	critical splice donor site	probably null
R4590:Rnf157	UTSW	11	116,250,098 (GRCm39)	missense	probably damaging	1.00
R4872:Rnf157	UTSW	11	116,246,298 (GRCm39)	missense	possibly damaging	0.93
R4891:Rnf157	UTSW	11	116,249,496 (GRCm39)	missense	probably damaging	1.00
R5608:Rnf157	UTSW	11	116,287,146 (GRCm39)	splice site	probably null
R5870:Rnf157	UTSW	11	116,237,900 (GRCm39)	missense	probably benign
R7171:Rnf157	UTSW	11	116,253,199 (GRCm39)	missense	possibly damaging	0.83
R7376:Rnf157	UTSW	11	116,251,192 (GRCm39)	missense	probably benign	0.35
R8178:Rnf157	UTSW	11	116,238,307 (GRCm39)	missense	possibly damaging	0.71
R8356:Rnf157	UTSW	11	116,240,246 (GRCm39)	missense	probably benign	0.11
R8456:Rnf157	UTSW	11	116,240,246 (GRCm39)	missense	probably benign	0.11
R8714:Rnf157	UTSW	11	116,237,891 (GRCm39)	missense	probably benign	0.00
R9312:Rnf157	UTSW	11	116,240,158 (GRCm39)	critical splice donor site	probably null
R9313:Rnf157	UTSW	11	116,250,718 (GRCm39)	missense	probably damaging	0.99
R9579:Rnf157	UTSW	11	116,240,822 (GRCm39)	missense	probably benign
R9641:Rnf157	UTSW	11	116,303,576 (GRCm39)	missense	probably benign	0.12
X0020:Rnf157	UTSW	11	116,251,134 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07