Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02629:Rnf123'

301202

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: 0.171) question?

Stock #

IGL02629

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,445,006 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,190,199 (GRCm39)	I34T	possibly damaging	Het
Acan	T	A	7: 78,761,727 (GRCm39)	I1979N	possibly damaging	Het
Ankrd27	A	G	7: 35,325,121 (GRCm39)	D701G	probably benign	Het
Arhgap31	C	T	16: 38,429,526 (GRCm39)	G450S	probably benign	Het
Braf	T	C	6: 39,665,233 (GRCm39)	E45G	possibly damaging	Het
Btnl6	C	T	17: 34,733,442 (GRCm39)	V178M	probably damaging	Het
Capg	A	T	6: 72,532,737 (GRCm39)	Q67L	probably benign	Het
Carmil3	A	G	14: 55,736,525 (GRCm39)	N663S	probably damaging	Het
Casz1	T	A	4: 149,028,848 (GRCm39)	S1098T	probably benign	Het
Cd55b	A	T	1: 130,347,535 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cenpf	A	G	1: 189,384,531 (GRCm39)	L2583P	probably damaging	Het
Clec4a1	A	C	6: 122,909,106 (GRCm39)		probably null	Het
Corin	T	C	5: 72,490,016 (GRCm39)	N653S	probably damaging	Het
Dhx36	T	C	3: 62,414,155 (GRCm39)	E69G	probably benign	Het
Dpy19l1	C	A	9: 24,350,009 (GRCm39)		probably benign	Het
Fam184a	T	C	10: 53,574,907 (GRCm39)	N234S	possibly damaging	Het
Foxg1	A	G	12: 49,432,331 (GRCm39)	S355G	probably benign	Het
Fsd1l	T	C	4: 53,686,417 (GRCm39)	S277P	probably damaging	Het
Hadh	T	A	3: 131,029,284 (GRCm39)	D245V	probably damaging	Het
Jag2	G	A	12: 112,878,134 (GRCm39)		probably benign	Het
Klhl18	A	T	9: 110,259,006 (GRCm39)		probably benign	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Mcoln2	A	G	3: 145,875,799 (GRCm39)	Y89C	probably benign	Het
Mug1	A	T	6: 121,817,024 (GRCm39)	Y31F	possibly damaging	Het
Ndufb5	A	G	3: 32,791,348 (GRCm39)	T32A	probably benign	Het
Nub1	C	T	5: 24,908,462 (GRCm39)	H404Y	possibly damaging	Het
Nudt6	A	G	3: 37,459,320 (GRCm39)	Y222H	probably benign	Het
Or4x6	A	T	2: 89,949,201 (GRCm39)	L247*	probably null	Het
Pla2g4c	A	T	7: 13,069,302 (GRCm39)	R159*	probably null	Het
Pnpla7	A	G	2: 24,940,957 (GRCm39)	D1103G	probably damaging	Het
Pof1b	T	G	X: 111,554,934 (GRCm39)		probably benign	Het
Prrg2	C	T	7: 44,706,166 (GRCm39)		probably null	Het
Rab3gap1	A	G	1: 127,837,600 (GRCm39)	T221A	probably benign	Het
Rfx7	A	G	9: 72,526,541 (GRCm39)	N1244D	probably damaging	Het
Rnf44	T	G	13: 54,830,875 (GRCm39)	Q207P	possibly damaging	Het
Serpina3g	A	G	12: 104,207,437 (GRCm39)	D200G	probably damaging	Het
Slc5a4a	T	A	10: 75,983,413 (GRCm39)	S17T	unknown	Het
Smc4	G	T	3: 68,933,206 (GRCm39)	C609F	probably damaging	Het
Sync	T	C	4: 129,187,744 (GRCm39)	F259L	probably damaging	Het
Tas2r113	T	C	6: 132,870,299 (GRCm39)	L109P	probably damaging	Het
Tjp2	C	A	19: 24,099,743 (GRCm39)		probably benign	Het
Tmem30a	C	A	9: 79,683,531 (GRCm39)		probably benign	Het
Unc80	T	C	1: 66,522,476 (GRCm39)	V226A	possibly damaging	Het
Upk2	A	T	9: 44,365,436 (GRCm39)	L44Q	probably damaging	Het
Usp42	T	C	5: 143,708,909 (GRCm39)	Y203C	possibly damaging	Het
Vmn1r28	A	T	6: 58,242,801 (GRCm39)	I215F	probably benign	Het
Zswim2	A	G	2: 83,755,553 (GRCm39)	V116A	possibly damaging	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
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
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

2015-04-16