Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01942:Rnf114'

180899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf114

Ensembl Gene

ENSMUSG00000006418

Gene Name

ring finger protein 114

Synonyms

Znf228, Zfp313, 1110008J21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01942

Quality Score

Status

Chromosome

Chromosomal Location

167334565-167358093 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 167354546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078050] [ENSMUST00000109214] [ENSMUST00000127939]

AlphaFold

Q9ET26

Predicted Effect

probably null
Transcript: ENSMUST00000078050

SMART Domains

Protein: ENSMUSP00000077197
Gene: ENSMUSG00000006418

Domain	Start	End	E-Value	Type
RING	30	68	3.47e-4	SMART
ZnF_C2H2	142	165	4.05e-1	SMART
ZnF_C2H2	172	200	5.83e1	SMART
low complexity region	204	216	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109214

SMART Domains

Protein: ENSMUSP00000104837
Gene: ENSMUSG00000006418

Domain	Start	End	E-Value	Type
RING	30	68	3.47e-4	SMART
ZnF_C2H2	142	165	4.05e-1	SMART
ZnF_C2H2	172	200	5.83e1	SMART
low complexity region	204	216	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127939

SMART Domains

Protein: ENSMUSP00000138430
Gene: ENSMUSG00000006418

Domain	Start	End	E-Value	Type
SCOP:d1fbva4	6	48	1e-7	SMART
Blast:RING	30	48	8e-6	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 45,635,997 (GRCm39)	R1017W	possibly damaging	Het
Arhgef26	A	G	3: 62,247,515 (GRCm39)	R200G	probably benign	Het
Arid4b	A	T	13: 14,310,749 (GRCm39)		probably benign	Het
Atp1a2	A	C	1: 172,113,876 (GRCm39)	S369A	probably benign	Het
Bag3	T	A	7: 128,148,024 (GRCm39)	D546E	probably benign	Het
Bcl6b	T	A	11: 70,117,569 (GRCm39)	Y379F	probably damaging	Het
Cbln2	T	C	18: 86,734,450 (GRCm39)	V136A	probably benign	Het
Ccnf	A	T	17: 24,461,294 (GRCm39)	D120E	probably benign	Het
Cd14	T	A	18: 36,858,693 (GRCm39)	H254L	possibly damaging	Het
Chd3	A	G	11: 69,240,931 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,224,692 (GRCm39)	R150H	probably benign	Het
Dhx35	T	C	2: 158,673,784 (GRCm39)	L405P	probably damaging	Het
Dpf1	G	A	7: 29,015,927 (GRCm39)	C383Y	probably damaging	Het
Dse	T	A	10: 34,031,989 (GRCm39)	Q345L	probably benign	Het
Gnaz	A	G	10: 74,850,706 (GRCm39)	M244V	probably damaging	Het
Gpr65	A	T	12: 98,241,974 (GRCm39)	Y209F	possibly damaging	Het
Inpp5f	T	C	7: 128,269,493 (GRCm39)	I281T	probably damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Mapk8ip2	G	A	15: 89,341,220 (GRCm39)		probably null	Het
Med24	G	A	11: 98,600,508 (GRCm39)	R646W	probably damaging	Het
Nup98	A	T	7: 101,843,918 (GRCm39)	F102Y	probably damaging	Het
Or1n2	A	G	2: 36,797,869 (GRCm39)	M304V	probably benign	Het
Or4c35	G	T	2: 89,808,322 (GRCm39)	V67L	probably benign	Het
Or8g50	A	T	9: 39,648,962 (GRCm39)	M284L	possibly damaging	Het
Pgap3	T	C	11: 98,288,780 (GRCm39)	Y125C	probably damaging	Het
Rasl12	T	C	9: 65,315,644 (GRCm39)	V96A	probably damaging	Het
Rbm20	G	A	19: 53,801,874 (GRCm39)	M127I	probably damaging	Het
Serpinb1b	C	T	13: 33,269,294 (GRCm39)	T9I	possibly damaging	Het
Setd1b	T	A	5: 123,301,489 (GRCm39)	F16I	possibly damaging	Het
Slc25a28	A	G	19: 43,652,947 (GRCm39)	F238S	probably damaging	Het
Slc2a2	T	C	3: 28,759,952 (GRCm39)	V30A	probably damaging	Het
Slc35f4	T	C	14: 49,762,962 (GRCm39)		probably benign	Het
Socs4	T	A	14: 47,528,107 (GRCm39)	C347*	probably null	Het
Spock1	C	T	13: 57,578,141 (GRCm39)	E367K	probably damaging	Het
Ubap2	C	T	4: 41,251,608 (GRCm39)	R8H	probably benign	Het
Vmn1r44	T	A	6: 89,870,806 (GRCm39)	M41K	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp575	T	C	7: 24,285,240 (GRCm39)	T134A	possibly damaging	Het

Other mutations in Rnf114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Rnf114	APN	2	167,354,459 (GRCm39)	missense	probably damaging	1.00
R0352:Rnf114	UTSW	2	167,353,136 (GRCm39)	missense	probably benign
R1553:Rnf114	UTSW	2	167,354,522 (GRCm39)	missense	possibly damaging	0.50
R2118:Rnf114	UTSW	2	167,352,803 (GRCm39)	missense	probably damaging	1.00
R5665:Rnf114	UTSW	2	167,352,854 (GRCm39)	missense	possibly damaging	0.80
R6251:Rnf114	UTSW	2	167,356,649 (GRCm39)	makesense	probably null
R6477:Rnf114	UTSW	2	167,345,408 (GRCm39)	missense	probably benign	0.00
R7529:Rnf114	UTSW	2	167,349,014 (GRCm39)	missense	possibly damaging	0.80
R7733:Rnf114	UTSW	2	167,354,438 (GRCm39)	missense	probably damaging	1.00
R8905:Rnf114	UTSW	2	167,353,134 (GRCm39)	missense	probably benign
R9602:Rnf114	UTSW	2	167,353,162 (GRCm39)	nonsense	probably null

Posted On

2014-05-07