Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Rnf157'

554642

Institutional Source

Beutler Lab

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 #

PIT4362001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116336353-116413032 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116360317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 127 (D127V)

Ref Sequence

ENSEMBL: ENSMUSP00000097776 (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: D127V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097776
Gene: ENSMUSG00000052949
AA Change: D127V

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: D127V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102006
Gene: ENSMUSG00000052949
AA Change: D127V

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

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

1x: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,064,424	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,079,100	V165A	probably damaging	Het
Aox2	A	T	1: 58,282,680	T44S	probably damaging	Het
Arhgap29	T	A	3: 122,003,212	N482K	probably benign	Het
Arhgef38	T	A	3: 133,160,830	D182V		Het
Atad5	C	T	11: 80,111,567	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,885,256	S147P	possibly damaging	Het
Cblb	T	A	16: 52,139,542	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,621,025	N97S	probably benign	Het
Cdh23	A	G	10: 60,465,458	V479A	probably benign	Het
Chuk	A	G	19: 44,098,583		probably null	Het
Cmtr2	G	A	8: 110,222,336	G426D	probably damaging	Het
Cog4	G	A	8: 110,866,672	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472	L193*	probably null	Het
Cxcr6	A	T	9: 123,810,461	I183F	probably benign	Het
Dbf4	A	G	5: 8,403,664	F253L	probably benign	Het
Dcaf8	T	C	1: 172,172,797	V174A	probably damaging	Het
Ddhd2	T	C	8: 25,735,752	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,763,565	V33A	probably benign	Het
Egfl7	C	T	2: 26,591,040	P188L	probably benign	Het
Ephb3	A	G	16: 21,220,857	E707G	probably damaging	Het
Epn3	C	T	11: 94,496,523	R7H	probably damaging	Het
Fam198b	C	A	3: 79,886,939	S238Y	possibly damaging	Het
Fbp1	T	A	13: 62,867,380	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,918,688	R177*	probably null	Het
Gbp5	T	C	3: 142,500,710	S52P	probably damaging	Het
Glb1l2	A	T	9: 26,773,981	S282T	probably benign	Het
Glg1	A	T	8: 111,258,799	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,377,175	L736F	probably benign	Het
Gm5565	A	T	5: 146,158,299	S212R	probably benign	Het
Grin2c	T	C	11: 115,249,633	T1220A	probably benign	Het
Grp	T	G	18: 65,886,226	S133A	probably benign	Het
Gstp2	C	A	19: 4,040,713	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,791,408	F84L	probably damaging	Het
Inppl1	T	C	7: 101,826,013	R944G	probably benign	Het
Lama2	A	T	10: 27,369,136	N216K	probably damaging	Het
Lrp2	T	A	2: 69,537,538	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,962,540	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 103,071,194	I1555T	probably benign	Het
Map2	G	A	1: 66,412,518	G189D	probably benign	Het
Mdc1	A	G	17: 35,844,469	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,797,768	D152G	possibly damaging	Het
Med23	A	G	10: 24,874,571	M99V	probably benign	Het
Mutyh	G	A	4: 116,817,070	V273M	probably damaging	Het
Neurod2	T	A	11: 98,327,882	Y152F	probably damaging	Het
Olfr1002	A	C	2: 85,647,724	L199R	probably damaging	Het
Olfr1177-ps	C	T	2: 88,344,013	A247T	probably benign	Het
Olfr898	G	T	9: 38,349,198	L32F	probably benign	Het
Pcdh20	G	C	14: 88,467,026	P946R	probably damaging	Het
Pde6b	T	C	5: 108,423,585		probably null	Het
Pdzrn4	A	T	15: 92,769,881	D638V	possibly damaging	Het
Polr1b	A	G	2: 129,109,292	D275G	possibly damaging	Het
Rspo4	T	A	2: 151,867,883	C69*	probably null	Het
Scara3	T	C	14: 65,936,402	T63A	probably benign	Het
Scn2a	G	A	2: 65,683,838	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,377,549	T163A	probably benign	Het
Slc2a10	T	A	2: 165,516,293	F446Y	probably damaging	Het
Snapc1	C	T	12: 73,982,495	R351C	probably damaging	Het
Snx6	A	G	12: 54,768,030	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,861,435	C1996*	probably null	Het
Steap4	A	G	5: 7,980,337	T398A	probably benign	Het
Tep1	A	T	14: 50,866,053	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,464	V70D	possibly damaging	Het
Ttn	G	A	2: 76,739,018	A27177V	probably damaging	Het
Ube3a	T	C	7: 59,276,122	V237A	possibly damaging	Het
Vil1	G	A	1: 74,421,383	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,393,929	T716A	probably benign	Het
Zbp1	A	G	2: 173,216,990	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524	V1845A	probably benign	Het
Zfp407	A	T	18: 84,561,268	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,925,815	T626A	probably benign	Het

Other mutations in Rnf157

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Rnf157	APN	11	116362355	missense	probably benign	0.20
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
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

Predicted Primers

PCR Primer
(F):5'- CCGAAGAGAAAATCTAAATTCAAGGT -3'
(R):5'- CCATGCCAATAGCCACACTG -3'

Sequencing Primer
(F):5'- AGAAAATCTAAATTCAAGGTCCAGAC -3'
(R):5'- GTGCCTCTCTGAGTTCAAGACAAG -3'

Posted On

2019-06-07