Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02072:Rnf123'

185851

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 #

IGL02072

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	T	A	12: 111,128,254 (GRCm39)		probably benign	Het
Atm	A	G	9: 53,371,096 (GRCm39)	S2251P	probably benign	Het
C1qtnf6	T	A	15: 78,411,551 (GRCm39)	K42*	probably null	Het
Ddx20	A	T	3: 105,587,943 (GRCm39)	V379E	probably damaging	Het
Dnah7a	A	T	1: 53,644,986 (GRCm39)	W1017R	probably damaging	Het
Eif2s1	T	A	12: 78,926,788 (GRCm39)	N179K	probably benign	Het
Exosc9	A	T	3: 36,608,821 (GRCm39)	N140I	probably damaging	Het
Fancg	A	C	4: 43,007,062 (GRCm39)	H238Q	probably benign	Het
Fyttd1	A	G	16: 32,721,031 (GRCm39)	I110V	probably damaging	Het
G6pd2	A	T	5: 61,966,753 (GRCm39)	D176V	probably damaging	Het
Gm5114	A	G	7: 39,060,826 (GRCm39)	S8P	probably benign	Het
Hoxa1	T	A	6: 52,133,878 (GRCm39)	M283L	probably damaging	Het
Hspbp1	A	T	7: 4,680,720 (GRCm39)	L252H	probably damaging	Het
Itgb2l	A	T	16: 96,231,808 (GRCm39)	D319E	probably benign	Het
Kdm6a	A	G	X: 18,120,528 (GRCm39)	T737A	probably benign	Het
Kmt2c	A	T	5: 25,610,430 (GRCm39)	D225E	possibly damaging	Het
Lamb2	T	A	9: 108,359,107 (GRCm39)	Y274*	probably null	Het
Lratd2	A	G	15: 60,695,302 (GRCm39)	L148P	probably damaging	Het
Mamdc4	A	G	2: 25,458,351 (GRCm39)	L353P	probably damaging	Het
Mid2	T	A	X: 139,637,201 (GRCm39)	H258Q	probably damaging	Het
Msh3	A	C	13: 92,436,803 (GRCm39)	N502K	probably damaging	Het
Nalcn	T	C	14: 123,560,770 (GRCm39)	H769R	probably benign	Het
Nfx1	A	G	4: 41,016,119 (GRCm39)	I894V	probably benign	Het
Notch3	G	A	17: 32,366,048 (GRCm39)	Q1018*	probably null	Het
Oas1e	A	G	5: 120,929,846 (GRCm39)		probably null	Het
Or4f14d	A	T	2: 111,960,426 (GRCm39)	H243Q	probably damaging	Het
Or7g34	A	G	9: 19,478,245 (GRCm39)	I145T	probably benign	Het
Plekha4	T	A	7: 45,187,722 (GRCm39)	F265I	probably benign	Het
Slc9a3	T	C	13: 74,313,978 (GRCm39)	I762T	probably benign	Het
Spag1	C	A	15: 36,190,658 (GRCm39)	P158Q	probably damaging	Het
Spout1	G	A	2: 30,067,938 (GRCm39)	Q26*	probably null	Het
Sulf1	T	C	1: 12,918,432 (GRCm39)	Y50H	probably damaging	Het
Sytl5	C	T	X: 9,829,825 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,964,637 (GRCm39)	E663G	possibly damaging	Het
Tmc3	A	G	7: 83,265,148 (GRCm39)	I681V	probably benign	Het
Tnfsf4	G	T	1: 161,244,860 (GRCm39)	C183F	probably damaging	Het
Ubqln3	A	T	7: 103,790,506 (GRCm39)	L528Q	possibly damaging	Het
Upf3a	A	C	8: 13,848,368 (GRCm39)	Q388P	probably damaging	Het
Vrk1	T	C	12: 106,009,144 (GRCm39)	V70A	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
IGL02073:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
IGL02074:Rnf123	APN	9	107,944,088 (GRCm39)	missense	probably damaging	1.00
IGL02079:Rnf123	APN	9	107,945,501 (GRCm39)	nonsense	probably null
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