Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02601:Rnf123'

300075

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: 0.174) question?

Stock #

IGL02601

Quality Score

Status

Chromosome

Chromosomal Location

108051534-108083346 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 108068302 bp (GRCm38)

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] [ENSMUST00000162355] [ENSMUST00000162516] [ENSMUST00000174504] [ENSMUST00000178267]

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: 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

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	C	T	5: 139,307,786 (GRCm38)	V57M	probably damaging	Het
Agap3	A	G	5: 24,483,371 (GRCm38)	K23E	possibly damaging	Het
Anln	A	T	9: 22,338,035 (GRCm38)	I132K	probably damaging	Het
Anxa4	T	C	6: 86,760,701 (GRCm38)	T13A	probably benign	Het
Bdp1	A	T	13: 100,098,514 (GRCm38)	Y191N	possibly damaging	Het
Carm1	G	A	9: 21,586,908 (GRCm38)	V403M	probably damaging	Het
Cbx7	A	G	15: 79,923,470 (GRCm38)		probably null	Het
Chd8	A	C	14: 52,214,300 (GRCm38)	N16K	possibly damaging	Het
Crtc3	A	T	7: 80,592,567 (GRCm38)	D499E	probably damaging	Het
Cul3	A	G	1: 80,271,715 (GRCm38)		probably benign	Het
D430041D05Rik	T	C	2: 104,230,286 (GRCm38)	D1421G	probably damaging	Het
Fgb	T	A	3: 83,045,060 (GRCm38)	E167D	probably benign	Het
Gimap6	T	A	6: 48,702,475 (GRCm38)	Q209L	probably damaging	Het
Gm3604	G	A	13: 62,370,176 (GRCm38)	H123Y	possibly damaging	Het
Gm5884	A	T	6: 128,645,786 (GRCm38)		noncoding transcript	Het
Lyst	G	A	13: 13,660,956 (GRCm38)	C1741Y	probably benign	Het
Obox3	T	C	7: 15,626,923 (GRCm38)	E97G	probably damaging	Het
Obsl1	T	C	1: 75,489,620 (GRCm38)	H1488R	probably benign	Het
Olfr1508	A	T	14: 52,463,345 (GRCm38)	Y221*	probably null	Het
Olfr790	A	G	10: 129,501,854 (GRCm38)	*323W	probably null	Het
Pak7	T	A	2: 136,116,935 (GRCm38)	K78*	probably null	Het
Paqr9	A	G	9: 95,560,824 (GRCm38)	N289S	probably damaging	Het
Pde3b	G	A	7: 114,523,342 (GRCm38)	R715H	probably damaging	Het
Pglyrp2	T	C	17: 32,415,861 (GRCm38)	H509R	probably benign	Het
Pik3ap1	A	C	19: 41,302,442 (GRCm38)	N550K	probably benign	Het
Pon3	A	G	6: 5,221,671 (GRCm38)	Y320H	probably damaging	Het
Ptprt	T	A	2: 161,766,307 (GRCm38)	T690S	probably benign	Het
Ptprz1	T	A	6: 23,000,687 (GRCm38)	D925E	probably benign	Het
Rag1	T	C	2: 101,642,673 (GRCm38)	D708G	probably damaging	Het
Rbm12	C	T	2: 156,095,560 (GRCm38)		probably benign	Het
Rbmy1b	A	G	Y: 3,774,885 (GRCm38)	I27M	probably benign	Het
Rfx2	G	A	17: 56,785,354 (GRCm38)	H315Y	possibly damaging	Het
Sis	T	C	3: 72,913,210 (GRCm38)	N1407S	probably benign	Het
Slco1c1	T	A	6: 141,544,829 (GRCm38)	L261Q	probably damaging	Het
Sox30	T	G	11: 45,984,762 (GRCm38)	L447R	possibly damaging	Het
Srrm1	G	A	4: 135,325,104 (GRCm38)	P658L	unknown	Het
Ssu72	A	G	4: 155,705,425 (GRCm38)	N15S	possibly damaging	Het
Stat4	C	T	1: 52,098,415 (GRCm38)	S455F	probably damaging	Het
Stk4	T	A	2: 164,086,542 (GRCm38)	L97Q	probably damaging	Het
Sulf1	A	T	1: 12,786,645 (GRCm38)	N40I	probably damaging	Het
Sympk	G	A	7: 19,048,869 (GRCm38)	V877I	probably benign	Het
Taar7b	A	T	10: 24,000,306 (GRCm38)	H123L	probably damaging	Het
Teddm1b	A	G	1: 153,874,616 (GRCm38)	Y57C	probably damaging	Het
Tep1	A	T	14: 50,833,478 (GRCm38)	C2121*	probably null	Het
Tnfsf11	T	A	14: 78,299,945 (GRCm38)	R93*	probably null	Het
Tspan12	A	C	6: 21,835,379 (GRCm38)		probably benign	Het
Tyrp1	A	G	4: 80,840,775 (GRCm38)	E295G	probably null	Het
Vps4a	T	C	8: 107,043,061 (GRCm38)	I334T	probably damaging	Het
Zfhx3	T	C	8: 108,856,830 (GRCm38)	S1110P	probably damaging	Het
Zfp507	A	G	7: 35,791,711 (GRCm38)	S716P	probably damaging	Het

Other mutations in Rnf123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Rnf123	APN	9	108,067,395 (GRCm38)	critical splice donor site	probably null
IGL01358:Rnf123	APN	9	108,069,182 (GRCm38)	missense	probably damaging	1.00
IGL01464:Rnf123	APN	9	108,052,302 (GRCm38)	missense	probably damaging	1.00
IGL01637:Rnf123	APN	9	108,058,238 (GRCm38)	missense	probably damaging	1.00
IGL01669:Rnf123	APN	9	108,058,356 (GRCm38)	missense	probably damaging	0.98
IGL01905:Rnf123	APN	9	108,071,370 (GRCm38)	splice site	probably benign
IGL02070:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02072:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02073:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02074:Rnf123	APN	9	108,066,889 (GRCm38)	missense	probably damaging	1.00
IGL02079:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02080:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02231:Rnf123	APN	9	108,066,399 (GRCm38)	missense	probably benign	0.17
IGL02281:Rnf123	APN	9	108,071,452 (GRCm38)	missense	probably benign	0.01
IGL02336:Rnf123	APN	9	108,061,842 (GRCm38)	missense	probably damaging	1.00
IGL02543:Rnf123	APN	9	108,066,348 (GRCm38)	missense	probably damaging	1.00
IGL02565:Rnf123	APN	9	108,052,212 (GRCm38)	critical splice donor site	probably null
IGL02571:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02572:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02574:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02586:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02589:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02600:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02602:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02603:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02609:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02628:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02629:Rnf123	APN	9	108,070,789 (GRCm38)	splice site	probably benign
IGL02629:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02630:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02631:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02632:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02650:Rnf123	APN	9	108,069,748 (GRCm38)	missense	probably benign	0.29
IGL02690:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02691:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02692:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02693:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02713:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02736:Rnf123	APN	9	108,068,302 (GRCm38)	nonsense	probably null
IGL02929:Rnf123	APN	9	108,069,076 (GRCm38)	missense	probably benign
R1175:Rnf123	UTSW	9	108,077,373 (GRCm38)	missense	probably benign
R1465:Rnf123	UTSW	9	108,071,466 (GRCm38)	splice site	probably benign
R1502:Rnf123	UTSW	9	108,068,510 (GRCm38)	splice site	probably null
R1682:Rnf123	UTSW	9	108,077,398 (GRCm38)	missense	probably benign	0.16
R1817:Rnf123	UTSW	9	108,062,926 (GRCm38)	missense	probably benign	0.41
R1855:Rnf123	UTSW	9	108,061,791 (GRCm38)	missense	probably damaging	1.00
R2394:Rnf123	UTSW	9	108,063,536 (GRCm38)	missense	probably benign	0.00
R2483:Rnf123	UTSW	9	108,063,521 (GRCm38)	missense	probably benign	0.16
R3896:Rnf123	UTSW	9	108,069,103 (GRCm38)	splice site	probably benign
R3940:Rnf123	UTSW	9	108,064,035 (GRCm38)	splice site	probably benign
R4206:Rnf123	UTSW	9	108,063,963 (GRCm38)	missense	probably benign	0.01
R4641:Rnf123	UTSW	9	108,058,587 (GRCm38)	missense	probably damaging	1.00
R4714:Rnf123	UTSW	9	108,052,439 (GRCm38)	splice site	probably null
R4767:Rnf123	UTSW	9	108,052,089 (GRCm38)	missense	probably damaging	1.00
R4849:Rnf123	UTSW	9	108,056,091 (GRCm38)	missense	probably damaging	1.00
R4899:Rnf123	UTSW	9	108,063,680 (GRCm38)	missense	probably damaging	1.00
R5274:Rnf123	UTSW	9	108,064,003 (GRCm38)	frame shift	probably null
R5275:Rnf123	UTSW	9	108,064,003 (GRCm38)	frame shift	probably null
R5276:Rnf123	UTSW	9	108,064,003 (GRCm38)	frame shift	probably null
R5294:Rnf123	UTSW	9	108,064,003 (GRCm38)	frame shift	probably null
R5295:Rnf123	UTSW	9	108,064,003 (GRCm38)	frame shift	probably null
R5394:Rnf123	UTSW	9	108,070,731 (GRCm38)	missense	probably damaging	1.00
R5717:Rnf123	UTSW	9	108,067,424 (GRCm38)	missense	probably damaging	1.00
R6186:Rnf123	UTSW	9	108,069,958 (GRCm38)	missense	possibly damaging	0.55
R6449:Rnf123	UTSW	9	108,056,053 (GRCm38)	missense	probably benign	0.17
R6502:Rnf123	UTSW	9	108,068,332 (GRCm38)	missense	possibly damaging	0.46
R6944:Rnf123	UTSW	9	108,063,623 (GRCm38)	missense	probably benign	0.02
R7003:Rnf123	UTSW	9	108,063,683 (GRCm38)	critical splice acceptor site	probably null
R7088:Rnf123	UTSW	9	108,058,536 (GRCm38)	missense	probably null	1.00
R7092:Rnf123	UTSW	9	108,068,600 (GRCm38)	missense	probably benign	0.07
R7100:Rnf123	UTSW	9	108,056,639 (GRCm38)	missense	probably damaging	1.00
R7257:Rnf123	UTSW	9	108,069,029 (GRCm38)	missense	probably damaging	1.00
R7453:Rnf123	UTSW	9	108,070,408 (GRCm38)	splice site	probably null
R7468:Rnf123	UTSW	9	108,069,009 (GRCm38)	missense	probably benign	0.00
R7517:Rnf123	UTSW	9	108,070,274 (GRCm38)	nonsense	probably null
R7577:Rnf123	UTSW	9	108,070,619 (GRCm38)	missense	probably damaging	1.00
R8296:Rnf123	UTSW	9	108,062,890 (GRCm38)	missense	probably damaging	1.00
R8322:Rnf123	UTSW	9	108,068,507 (GRCm38)	missense	probably benign	0.26
R8754:Rnf123	UTSW	9	108,071,164 (GRCm38)	missense	probably damaging	1.00
R8783:Rnf123	UTSW	9	108,069,073 (GRCm38)	missense	probably benign
R9052:Rnf123	UTSW	9	108,059,731 (GRCm38)	missense	probably damaging	1.00
R9156:Rnf123	UTSW	9	108,063,028 (GRCm38)	splice site	probably benign
R9170:Rnf123	UTSW	9	108,071,176 (GRCm38)	missense	probably damaging	1.00
R9332:Rnf123	UTSW	9	108,067,505 (GRCm38)	missense	probably benign	0.00
R9385:Rnf123	UTSW	9	108,052,268 (GRCm38)	missense	probably benign	0.02
R9394:Rnf123	UTSW	9	108,065,706 (GRCm38)	missense	probably damaging	1.00
R9432:Rnf123	UTSW	9	108,059,809 (GRCm38)	missense	probably damaging	0.96
R9717:Rnf123	UTSW	9	108,077,764 (GRCm38)	missense	probably benign	0.43
Z1176:Rnf123	UTSW	9	108,062,981 (GRCm38)	missense	probably damaging	1.00
Z1176:Rnf123	UTSW	9	108,058,395 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16