Mutagenetix > Incidental Mutation

Incidental Mutation 'R1175:Rnf123'

99972

Institutional Source

Beutler Lab

Gene Symbol

Rnf123

Ensembl Gene

ENSMUSG00000041528

Gene Name

ring finger protein 123

Synonyms

KPC1

MMRRC Submission

039248-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R1175 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108051534-108083346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108077373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 48 (R48H)

Ref Sequence

ENSEMBL: ENSMUSP00000136953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035211] [ENSMUST00000047746] [ENSMUST00000159372] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000161828] [ENSMUST00000162355] [ENSMUST00000162516] [ENSMUST00000162886] [ENSMUST00000174504] [ENSMUST00000178267]

AlphaFold

Q5XPI3

Predicted Effect

probably benign
Transcript: ENSMUST00000035211

SMART Domains

Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591

Domain	Start	End	E-Value	Type
PAN_AP	21	104	2.65e-9	SMART
KR	108	188	3.13e-39	SMART
KR	189	270	8.57e-46	SMART
KR	290	372	7.94e-41	SMART
KR	377	459	6.59e-47	SMART
Tryp_SPc	488	709	2.27e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047746
AA Change: R48H

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

SMART Domains

Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: R48H

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1047	1067	N/A	INTRINSIC
low complexity region	1242	1251	N/A	INTRINSIC
RING	1260	1297	5.27e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159136

Predicted Effect

probably benign
Transcript: ENSMUST00000159372

Predicted Effect

probably benign
Transcript: ENSMUST00000160184

Predicted Effect

probably benign
Transcript: ENSMUST00000160249
AA Change: R48H

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

SMART Domains

Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: R48H

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC
low complexity region	1236	1245	N/A	INTRINSIC
RING	1254	1291	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160649
AA Change: R48H

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

SMART Domains

Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: R48H

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161673

Predicted Effect

probably benign
Transcript: ENSMUST00000161828
AA Change: R48H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162152

Predicted Effect

probably benign
Transcript: ENSMUST00000162355
AA Change: R48H

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

SMART Domains

Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: R48H

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1047	1067	N/A	INTRINSIC
low complexity region	1242	1251	N/A	INTRINSIC
RING	1260	1297	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162516
AA Change: R48H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162886

SMART Domains

Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591

Domain	Start	End	E-Value	Type
PAN_AP	21	104	2.65e-9	SMART
KR	108	188	3.13e-39	SMART
KR	189	270	1.07e-46	SMART
KR	281	363	7.94e-41	SMART
KR	368	450	6.59e-47	SMART
Tryp_SPc	479	700	2.27e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174504
AA Change: R48H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178267
AA Change: R48H

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

SMART Domains

Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: R48H

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC
low complexity region	1236	1245	N/A	INTRINSIC
RING	1254	1291	5.27e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184227

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 88.0%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	T	A	16: 17,117,582	H214L	probably benign	Het
3110043O21Rik	C	A	4: 35,218,630	E76D	probably damaging	Het
4921507P07Rik	T	A	6: 50,589,141	K118M	probably damaging	Het
A430078G23Rik	T	A	8: 3,389,023		probably benign	Het
Abca17	T	C	17: 24,289,351	E1070G	possibly damaging	Het
Accsl	A	T	2: 93,866,244		probably benign	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Anapc1	C	A	2: 128,680,188	C150F	probably damaging	Het
Borcs5	T	A	6: 134,710,133	N150K	probably damaging	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Cntnap5c	C	A	17: 58,364,246	T1143K	possibly damaging	Het
Col7a1	A	C	9: 108,955,334	T137P	unknown	Het
Defb8	C	T	8: 19,445,894	G50E	probably damaging	Het
Dimt1	T	A	13: 106,949,685		probably benign	Het
Dnajb11	T	A	16: 22,870,673	D281E	probably damaging	Het
Eci2	G	T	13: 34,993,104	N24K	probably damaging	Het
Fbn1	A	T	2: 125,394,687	C358S	probably benign	Het
Fbxl13	A	T	5: 21,620,604		probably benign	Het
Fbxw11	T	C	11: 32,711,922	C121R	probably damaging	Het
Fsd2	T	C	7: 81,559,770	D108G	probably benign	Het
Gab1	C	A	8: 80,784,842	R458L	probably damaging	Het
Ghrhr	T	A	6: 55,388,269	L416*	probably null	Het
Glipr1l2	C	A	10: 112,083,466	L31I	possibly damaging	Het
Gm1818	A	G	12: 48,556,199		noncoding transcript	Het
Gm19965	T	A	1: 116,820,820		probably benign	Het
Gpr149	A	G	3: 62,604,467	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,225,713	I131T	probably damaging	Het
Itpkc	T	C	7: 27,227,770	I240V	probably benign	Het
Jakmip3	A	G	7: 139,027,786	D552G	probably damaging	Het
Kank4	T	C	4: 98,765,569	Y874C	probably damaging	Het
Kdm3a	T	C	6: 71,600,027	E768G	possibly damaging	Het
Klf6	A	G	13: 5,861,712	D25G	probably benign	Het
Lamc1	T	C	1: 153,247,231		probably benign	Het
Laptm4a	T	C	12: 8,936,716	V258A	probably damaging	Het
Map3k19	A	G	1: 127,823,880	V578A	probably benign	Het
Mast1	T	C	8: 84,925,327	E342G	probably benign	Het
Mgat5b	T	C	11: 116,977,796	L515P	probably damaging	Het
Mink1	A	G	11: 70,611,340	D985G	probably benign	Het
Mphosph9	A	G	5: 124,315,676	V191A	possibly damaging	Het
Muc6	C	T	7: 141,648,101	G708S	probably damaging	Het
Papd5	T	A	8: 88,252,007	F445L	probably damaging	Het
Pcnt	A	T	10: 76,393,044		probably null	Het
Psmd8	A	T	7: 29,176,173	Y174N	probably damaging	Het
Ptgdr2	C	A	19: 10,940,928	R270S	possibly damaging	Het
Rasal2	A	G	1: 157,147,648	M1172T	probably damaging	Het
Rif1	A	G	2: 52,107,628		probably benign	Het
Rsrc1	T	C	3: 67,356,218		probably benign	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,200,625	P195L	probably benign	Het
Sis	A	G	3: 72,958,104		probably benign	Het
Skint4	T	C	4: 112,124,596	M246T	probably benign	Het
Snrnp200	C	A	2: 127,229,077	R1093S	probably damaging	Het
Sp100	A	G	1: 85,701,420	N471D	possibly damaging	Het
Ssxb8	T	G	X: 8,689,823	H88P	probably damaging	Het
Sufu	T	C	19: 46,401,264		probably null	Het
Svs1	C	A	6: 48,990,239	P707H	probably damaging	Het
Synpo2l	G	A	14: 20,668,167	T10I	possibly damaging	Het
Tdo2	A	T	3: 81,974,376	S40R	probably damaging	Het
Terb1	G	A	8: 104,484,306	T363I	probably benign	Het
Timd4	C	T	11: 46,817,671	P175S	probably damaging	Het
Tlr3	C	A	8: 45,397,134	V833L	probably damaging	Het
Tpst2	T	A	5: 112,308,045	M150K	probably damaging	Het
Trim67	T	A	8: 124,817,035	V378E	probably damaging	Het
Tyrp1	C	T	4: 80,844,868	Q331*	probably null	Het
Ubap2l	A	T	3: 90,023,500	S413T	probably benign	Het
Uimc1	G	A	13: 55,028,602	T701I	possibly damaging	Het
Vangl2	G	T	1: 172,004,786	T501N	probably damaging	Het
Vmn1r60	A	G	7: 5,544,622	S160P	probably benign	Het
Vmn2r66	G	T	7: 85,005,591	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,751,944	E89V	probably damaging	Het
Zfp457	G	A	13: 67,293,684	P180S	probably damaging	Het

Other mutations in Rnf123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Rnf123	APN	9	108067395	critical splice donor site	probably null
IGL01358:Rnf123	APN	9	108069182	missense	probably damaging	1.00
IGL01464:Rnf123	APN	9	108052302	missense	probably damaging	1.00
IGL01637:Rnf123	APN	9	108058238	missense	probably damaging	1.00
IGL01669:Rnf123	APN	9	108058356	missense	probably damaging	0.98
IGL01905:Rnf123	APN	9	108071370	splice site	probably benign
IGL02070:Rnf123	APN	9	108068302	nonsense	probably null
IGL02072:Rnf123	APN	9	108068302	nonsense	probably null
IGL02073:Rnf123	APN	9	108068302	nonsense	probably null
IGL02074:Rnf123	APN	9	108066889	missense	probably damaging	1.00
IGL02079:Rnf123	APN	9	108068302	nonsense	probably null
IGL02080:Rnf123	APN	9	108068302	nonsense	probably null
IGL02231:Rnf123	APN	9	108066399	missense	probably benign	0.17
IGL02281:Rnf123	APN	9	108071452	missense	probably benign	0.01
IGL02336:Rnf123	APN	9	108061842	missense	probably damaging	1.00
IGL02543:Rnf123	APN	9	108066348	missense	probably damaging	1.00
IGL02565:Rnf123	APN	9	108052212	critical splice donor site	probably null
IGL02571:Rnf123	APN	9	108068302	nonsense	probably null
IGL02572:Rnf123	APN	9	108068302	nonsense	probably null
IGL02574:Rnf123	APN	9	108068302	nonsense	probably null
IGL02586:Rnf123	APN	9	108068302	nonsense	probably null
IGL02589:Rnf123	APN	9	108068302	nonsense	probably null
IGL02600:Rnf123	APN	9	108068302	nonsense	probably null
IGL02601:Rnf123	APN	9	108068302	nonsense	probably null
IGL02602:Rnf123	APN	9	108068302	nonsense	probably null
IGL02603:Rnf123	APN	9	108068302	nonsense	probably null
IGL02609:Rnf123	APN	9	108068302	nonsense	probably null
IGL02628:Rnf123	APN	9	108068302	nonsense	probably null
IGL02629:Rnf123	APN	9	108068302	nonsense	probably null
IGL02629:Rnf123	APN	9	108070789	splice site	probably benign
IGL02630:Rnf123	APN	9	108068302	nonsense	probably null
IGL02631:Rnf123	APN	9	108068302	nonsense	probably null
IGL02632:Rnf123	APN	9	108068302	nonsense	probably null
IGL02650:Rnf123	APN	9	108069748	missense	probably benign	0.29
IGL02690:Rnf123	APN	9	108068302	nonsense	probably null
IGL02691:Rnf123	APN	9	108068302	nonsense	probably null
IGL02692:Rnf123	APN	9	108068302	nonsense	probably null
IGL02693:Rnf123	APN	9	108068302	nonsense	probably null
IGL02713:Rnf123	APN	9	108068302	nonsense	probably null
IGL02736:Rnf123	APN	9	108068302	nonsense	probably null
IGL02929:Rnf123	APN	9	108069076	missense	probably benign
R1465:Rnf123	UTSW	9	108071466	splice site	probably benign
R1502:Rnf123	UTSW	9	108068510	splice site	probably null
R1682:Rnf123	UTSW	9	108077398	missense	probably benign	0.16
R1817:Rnf123	UTSW	9	108062926	missense	probably benign	0.41
R1855:Rnf123	UTSW	9	108061791	missense	probably damaging	1.00
R2394:Rnf123	UTSW	9	108063536	missense	probably benign	0.00
R2483:Rnf123	UTSW	9	108063521	missense	probably benign	0.16
R3896:Rnf123	UTSW	9	108069103	splice site	probably benign
R3940:Rnf123	UTSW	9	108064035	splice site	probably benign
R4206:Rnf123	UTSW	9	108063963	missense	probably benign	0.01
R4641:Rnf123	UTSW	9	108058587	missense	probably damaging	1.00
R4714:Rnf123	UTSW	9	108052439	splice site	probably null
R4767:Rnf123	UTSW	9	108052089	missense	probably damaging	1.00
R4849:Rnf123	UTSW	9	108056091	missense	probably damaging	1.00
R4899:Rnf123	UTSW	9	108063680	missense	probably damaging	1.00
R5274:Rnf123	UTSW	9	108064003	frame shift	probably null
R5275:Rnf123	UTSW	9	108064003	frame shift	probably null
R5276:Rnf123	UTSW	9	108064003	frame shift	probably null
R5294:Rnf123	UTSW	9	108064003	frame shift	probably null
R5295:Rnf123	UTSW	9	108064003	frame shift	probably null
R5394:Rnf123	UTSW	9	108070731	missense	probably damaging	1.00
R5717:Rnf123	UTSW	9	108067424	missense	probably damaging	1.00
R6186:Rnf123	UTSW	9	108069958	missense	possibly damaging	0.55
R6449:Rnf123	UTSW	9	108056053	missense	probably benign	0.17
R6502:Rnf123	UTSW	9	108068332	missense	possibly damaging	0.46
R6944:Rnf123	UTSW	9	108063623	missense	probably benign	0.02
R7003:Rnf123	UTSW	9	108063683	critical splice acceptor site	probably null
R7088:Rnf123	UTSW	9	108058536	missense	probably null	1.00
R7092:Rnf123	UTSW	9	108068600	missense	probably benign	0.07
R7100:Rnf123	UTSW	9	108056639	missense	probably damaging	1.00
R7257:Rnf123	UTSW	9	108069029	missense	probably damaging	1.00
R7453:Rnf123	UTSW	9	108070408	splice site	probably null
R7468:Rnf123	UTSW	9	108069009	missense	probably benign	0.00
R7517:Rnf123	UTSW	9	108070274	nonsense	probably null
R7577:Rnf123	UTSW	9	108070619	missense	probably damaging	1.00
R8296:Rnf123	UTSW	9	108062890	missense	probably damaging	1.00
R8322:Rnf123	UTSW	9	108068507	missense	probably benign	0.26
R8754:Rnf123	UTSW	9	108071164	missense	probably damaging	1.00
R8783:Rnf123	UTSW	9	108069073	missense	probably benign
R9052:Rnf123	UTSW	9	108059731	missense	probably damaging	1.00
R9156:Rnf123	UTSW	9	108063028	splice site	probably benign
R9170:Rnf123	UTSW	9	108071176	missense	probably damaging	1.00
R9332:Rnf123	UTSW	9	108067505	missense	probably benign	0.00
R9385:Rnf123	UTSW	9	108052268	missense	probably benign	0.02
R9394:Rnf123	UTSW	9	108065706	missense	probably damaging	1.00
R9432:Rnf123	UTSW	9	108059809	missense	probably damaging	0.96
R9717:Rnf123	UTSW	9	108077764	missense	probably benign	0.43
Z1176:Rnf123	UTSW	9	108058395	missense	probably damaging	1.00
Z1176:Rnf123	UTSW	9	108062981	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15