Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02079:Rnf123'

186056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf123

Ensembl Gene

ENSMUSG00000041528

Gene Name

ring finger protein 123

Synonyms

KPC1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

107928869-107957183 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 107945501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 390 (R390*)

Ref Sequence

ENSEMBL: ENSMUSP00000136953 (fasta)

Gene Model

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

AlphaFold

Q5XPI3

Predicted Effect

probably null
Transcript: ENSMUST00000047746
AA Change: R390*

SMART Domains

Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528
AA Change: R390*

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 null
Transcript: ENSMUST00000160249
AA Change: R390*

SMART Domains

Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528
AA Change: R390*

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 null
Transcript: ENSMUST00000160649
AA Change: R390*

SMART Domains

Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528
AA Change: R390*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162152

Predicted Effect

probably null
Transcript: ENSMUST00000178267
AA Change: R390*

SMART Domains

Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528
AA Change: R390*

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 null
Transcript: ENSMUST00000162355
AA Change: R390*

SMART Domains

Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528
AA Change: R390*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174504

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,579,960 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,410,877 (GRCm39)	M204K	probably damaging	Het
Alms1	T	C	6: 85,605,616 (GRCm39)	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,462,868 (GRCm39)		probably null	Het
Arsa	T	C	15: 89,357,554 (GRCm39)	T470A	probably benign	Het
Bri3bp	T	C	5: 125,531,753 (GRCm39)	V233A	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Elapor1	T	A	3: 108,388,675 (GRCm39)	N236I	possibly damaging	Het
Ephb6	T	A	6: 41,592,948 (GRCm39)	D395E	possibly damaging	Het
Flt1	T	A	5: 147,505,641 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,323,089 (GRCm39)	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 79,888,768 (GRCm39)	D266E	probably benign	Het
Gspt1	A	G	16: 11,058,693 (GRCm39)	S123P	probably benign	Het
Kctd17	T	C	15: 78,314,356 (GRCm39)		probably benign	Het
Lamb2	T	A	9: 108,359,312 (GRCm39)	C313S	probably damaging	Het
Lcor	T	A	19: 41,544,126 (GRCm39)	S106R	probably benign	Het
Lgr5	A	C	10: 115,288,099 (GRCm39)	S776R	probably damaging	Het
Mettl16	T	G	11: 74,708,450 (GRCm39)	C510G	probably damaging	Het
Mlip	T	C	9: 77,146,811 (GRCm39)	T101A	possibly damaging	Het
Myh6	A	T	14: 55,187,998 (GRCm39)	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,681,001 (GRCm39)	R87H	possibly damaging	Het
Npepl1	C	T	2: 173,961,183 (GRCm39)		probably benign	Het
Nrxn1	A	T	17: 90,950,511 (GRCm39)	M548K	probably damaging	Het
Or10a48	T	A	7: 108,425,143 (GRCm39)	E21V	probably damaging	Het
Or4c11c	T	A	2: 88,661,991 (GRCm39)	C177S	probably damaging	Het
Pate3	T	A	9: 35,557,449 (GRCm39)	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,819,067 (GRCm39)	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,792,706 (GRCm39)	I211N	probably benign	Het
Plekhg3	T	A	12: 76,607,203 (GRCm39)	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,566,540 (GRCm39)	C58Y	probably benign	Het
Rusc2	A	G	4: 43,425,668 (GRCm39)	S1258G	probably benign	Het
Scn1a	T	C	2: 66,153,704 (GRCm39)	R710G	probably benign	Het
Wwc1	A	G	11: 35,766,885 (GRCm39)	S457P	probably damaging	Het
Xdh	C	T	17: 74,198,272 (GRCm39)	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp592	T	C	7: 80,688,978 (GRCm39)	S1080P	probably benign	Het

Other mutations in Rnf123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Rnf123	APN	9	107,944,594 (GRCm39)	critical splice donor site	probably null
IGL01358:Rnf123	APN	9	107,946,381 (GRCm39)	missense	probably damaging	1.00
IGL01464:Rnf123	APN	9	107,929,501 (GRCm39)	missense	probably damaging	1.00
IGL01637:Rnf123	APN	9	107,935,437 (GRCm39)	missense	probably damaging	1.00
IGL01669:Rnf123	APN	9	107,935,555 (GRCm39)	missense	probably damaging	0.98
IGL01905:Rnf123	APN	9	107,948,569 (GRCm39)	splice site	probably benign
IGL02070:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02072:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02073:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02074:Rnf123	APN	9	107,944,088 (GRCm39)	missense	probably damaging	1.00
IGL02080:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02231:Rnf123	APN	9	107,943,598 (GRCm39)	missense	probably benign	0.17
IGL02281:Rnf123	APN	9	107,948,651 (GRCm39)	missense	probably benign	0.01
IGL02336:Rnf123	APN	9	107,939,041 (GRCm39)	missense	probably damaging	1.00
IGL02543:Rnf123	APN	9	107,943,547 (GRCm39)	missense	probably damaging	1.00
IGL02565:Rnf123	APN	9	107,929,411 (GRCm39)	critical splice donor site	probably null
IGL02571:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02572:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02574:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02586:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02589:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02600:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02601:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02602:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02603:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02609:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02628:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02629:Rnf123	APN	9	107,947,988 (GRCm39)	splice site	probably benign
IGL02629:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02630:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02631:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02632:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02650:Rnf123	APN	9	107,946,947 (GRCm39)	missense	probably benign	0.29
IGL02690:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02691:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02692:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02693:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02713:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02736:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02929:Rnf123	APN	9	107,946,275 (GRCm39)	missense	probably benign
R1175:Rnf123	UTSW	9	107,954,572 (GRCm39)	missense	probably benign
R1465:Rnf123	UTSW	9	107,948,665 (GRCm39)	splice site	probably benign
R1502:Rnf123	UTSW	9	107,945,709 (GRCm39)	splice site	probably null
R1682:Rnf123	UTSW	9	107,954,597 (GRCm39)	missense	probably benign	0.16
R1817:Rnf123	UTSW	9	107,940,125 (GRCm39)	missense	probably benign	0.41
R1855:Rnf123	UTSW	9	107,938,990 (GRCm39)	missense	probably damaging	1.00
R2394:Rnf123	UTSW	9	107,940,735 (GRCm39)	missense	probably benign	0.00
R2483:Rnf123	UTSW	9	107,940,720 (GRCm39)	missense	probably benign	0.16
R3896:Rnf123	UTSW	9	107,946,302 (GRCm39)	splice site	probably benign
R3940:Rnf123	UTSW	9	107,941,234 (GRCm39)	splice site	probably benign
R4206:Rnf123	UTSW	9	107,941,162 (GRCm39)	missense	probably benign	0.01
R4641:Rnf123	UTSW	9	107,935,786 (GRCm39)	missense	probably damaging	1.00
R4714:Rnf123	UTSW	9	107,929,638 (GRCm39)	splice site	probably null
R4767:Rnf123	UTSW	9	107,929,288 (GRCm39)	missense	probably damaging	1.00
R4849:Rnf123	UTSW	9	107,933,290 (GRCm39)	missense	probably damaging	1.00
R4899:Rnf123	UTSW	9	107,940,879 (GRCm39)	missense	probably damaging	1.00
R5274:Rnf123	UTSW	9	107,941,202 (GRCm39)	frame shift	probably null
R5275:Rnf123	UTSW	9	107,941,202 (GRCm39)	frame shift	probably null
R5276:Rnf123	UTSW	9	107,941,202 (GRCm39)	frame shift	probably null
R5294:Rnf123	UTSW	9	107,941,202 (GRCm39)	frame shift	probably null
R5295:Rnf123	UTSW	9	107,941,202 (GRCm39)	frame shift	probably null
R5394:Rnf123	UTSW	9	107,947,930 (GRCm39)	missense	probably damaging	1.00
R5717:Rnf123	UTSW	9	107,944,623 (GRCm39)	missense	probably damaging	1.00
R6186:Rnf123	UTSW	9	107,947,157 (GRCm39)	missense	possibly damaging	0.55
R6449:Rnf123	UTSW	9	107,933,252 (GRCm39)	missense	probably benign	0.17
R6502:Rnf123	UTSW	9	107,945,531 (GRCm39)	missense	possibly damaging	0.46
R6944:Rnf123	UTSW	9	107,940,822 (GRCm39)	missense	probably benign	0.02
R7003:Rnf123	UTSW	9	107,940,882 (GRCm39)	critical splice acceptor site	probably null
R7088:Rnf123	UTSW	9	107,935,735 (GRCm39)	missense	probably null	1.00
R7092:Rnf123	UTSW	9	107,945,799 (GRCm39)	missense	probably benign	0.07
R7100:Rnf123	UTSW	9	107,933,838 (GRCm39)	missense	probably damaging	1.00
R7257:Rnf123	UTSW	9	107,946,228 (GRCm39)	missense	probably damaging	1.00
R7453:Rnf123	UTSW	9	107,947,607 (GRCm39)	splice site	probably null
R7468:Rnf123	UTSW	9	107,946,208 (GRCm39)	missense	probably benign	0.00
R7517:Rnf123	UTSW	9	107,947,473 (GRCm39)	nonsense	probably null
R7577:Rnf123	UTSW	9	107,947,818 (GRCm39)	missense	probably damaging	1.00
R8296:Rnf123	UTSW	9	107,940,089 (GRCm39)	missense	probably damaging	1.00
R8322:Rnf123	UTSW	9	107,945,706 (GRCm39)	missense	probably benign	0.26
R8754:Rnf123	UTSW	9	107,948,363 (GRCm39)	missense	probably damaging	1.00
R8783:Rnf123	UTSW	9	107,946,272 (GRCm39)	missense	probably benign
R9052:Rnf123	UTSW	9	107,936,930 (GRCm39)	missense	probably damaging	1.00
R9156:Rnf123	UTSW	9	107,940,227 (GRCm39)	splice site	probably benign
R9170:Rnf123	UTSW	9	107,948,375 (GRCm39)	missense	probably damaging	1.00
R9332:Rnf123	UTSW	9	107,944,704 (GRCm39)	missense	probably benign	0.00
R9385:Rnf123	UTSW	9	107,929,467 (GRCm39)	missense	probably benign	0.02
R9394:Rnf123	UTSW	9	107,942,905 (GRCm39)	missense	probably damaging	1.00
R9432:Rnf123	UTSW	9	107,937,008 (GRCm39)	missense	probably damaging	0.96
R9717:Rnf123	UTSW	9	107,954,963 (GRCm39)	missense	probably benign	0.43
Z1176:Rnf123	UTSW	9	107,940,180 (GRCm39)	missense	probably damaging	1.00
Z1176:Rnf123	UTSW	9	107,935,594 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07