Mutagenetix > Incidental Mutation

Incidental Mutation 'RF014:Rnf14'

603447

Institutional Source

Beutler Lab

Gene Symbol

Rnf14

Ensembl Gene

ENSMUSG00000060450

Gene Name

ring finger protein 14

Synonyms

2310075C09Rik, 2610005D23Rik, Triad2, D18Ertd188e, D7Bwg0165e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

RF014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38417590-38450902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38442623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 308 (V308E)

Ref Sequence

ENSEMBL: ENSMUSP00000072212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072376] [ENSMUST00000170811] [ENSMUST00000171461]

AlphaFold

Q9JI90

Predicted Effect

probably damaging
Transcript: ENSMUST00000072376
AA Change: V308E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072212
Gene: ENSMUSG00000060450
AA Change: V308E

Domain	Start	End	E-Value	Type
RWD	11	137	2.36e-32	SMART
low complexity region	169	179	N/A	INTRINSIC
RING	221	266	6.51e-2	SMART
IBR	290	351	3.15e-18	SMART
IBR	387	454	2.11e-1	SMART
low complexity region	470	485	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170811
AA Change: V182E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133070
Gene: ENSMUSG00000060450
AA Change: V182E

Domain	Start	End	E-Value	Type
low complexity region	43	53	N/A	INTRINSIC
RING	95	140	6.51e-2	SMART
IBR	164	225	3.15e-18	SMART
IBR	261	328	2.11e-1	SMART
low complexity region	344	359	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171461
AA Change: V308E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126205
Gene: ENSMUSG00000060450
AA Change: V308E

Domain	Start	End	E-Value	Type
RWD	11	137	2.36e-32	SMART
low complexity region	169	179	N/A	INTRINSIC
RING	221	266	6.51e-2	SMART
IBR	290	351	3.15e-18	SMART
IBR	387	454	2.11e-1	SMART
low complexity region	470	485	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

98% (49/50)

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 RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Six alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,820 (GRCm39)		probably benign	Het
A2ml1	T	C	6: 128,547,031 (GRCm39)	N366S	probably damaging	Het
Abca5	T	C	11: 110,170,580 (GRCm39)		probably null	Het
Acaca	T	C	11: 84,122,550 (GRCm39)	V323A	probably benign	Het
Agbl3	T	A	6: 34,776,293 (GRCm39)	D266E	possibly damaging	Het
Aggf1	A	T	13: 95,507,276 (GRCm39)	S170T	possibly damaging	Het
Amhr2	A	T	15: 102,361,589 (GRCm39)	S467C	probably benign	Het
Begain	GCCGCC	GCCGCCACCGCC	12: 108,999,348 (GRCm39)		probably benign	Het
Best3	A	T	10: 116,840,410 (GRCm39)	Q280L	probably damaging	Het
Calhm1	CTGTGGCTGTGG	CTGTGGCTGTGGGTGTGGCTGTGG	19: 47,129,704 (GRCm39)		probably benign	Het
Ccdc186	A	G	19: 56,801,904 (GRCm39)	L71S	probably benign	Het
Ces1d	C	A	8: 93,902,793 (GRCm39)		probably null	Het
Chga	AGC	AGCGGC	12: 102,527,652 (GRCm39)		probably benign	Het
Chga	AGC	AGCTGC	12: 102,527,664 (GRCm39)		probably benign	Het
Clstn3	T	A	6: 124,436,225 (GRCm39)	K212*	probably null	Het
Col16a1	TTTTT	TTTTTCTTTT	4: 129,986,860 (GRCm39)		probably benign	Het
Cpxm2	G	T	7: 131,672,592 (GRCm39)	T319K	possibly damaging	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,286,760 (GRCm39)	S3364P	probably benign	Het
Edc4	C	T	8: 106,611,232 (GRCm39)	T61M	probably benign	Het
Fndc5	A	G	4: 129,035,960 (GRCm39)	H199R	probably benign	Het
Gm43302	T	A	5: 105,422,623 (GRCm39)	I470F	possibly damaging	Het
Gne	G	T	4: 44,060,045 (GRCm39)	A147D	probably damaging	Het
Igkv12-89	G	GCAACGCCAC	6: 68,812,270 (GRCm39)		probably benign	Het
Irf9	C	T	14: 55,843,334 (GRCm39)	R179*	probably null	Het
Jakmip1	A	T	5: 37,331,870 (GRCm39)	K850M	possibly damaging	Het
Kalrn	G	A	16: 33,860,303 (GRCm39)	T1884I	probably benign	Het
Krtap28-10	CCACCACAGCCACAGCCACCACAGCCACAG	CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG	1: 83,019,972 (GRCm39)		probably benign	Het
Las1l	CTCCTCCTTCTCCTCTTCCTC	CTCCTC	X: 94,984,263 (GRCm39)		probably benign	Het
Lctl	A	G	9: 64,026,212 (GRCm39)	Y89C	probably damaging	Het
Lpgat1	GCC	GCCTCC	1: 191,450,665 (GRCm39)		probably benign	Het
Luzp2	A	T	7: 54,821,953 (GRCm39)	I157F	probably damaging	Het
Lyz3	A	G	10: 117,070,322 (GRCm39)	*152Q	probably null	Het
Mamld1	GCA	GCACCA	X: 70,162,451 (GRCm39)		probably benign	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,776 (GRCm39)		probably benign	Het
Mbd3l1	A	T	9: 18,396,296 (GRCm39)	E140D	possibly damaging	Het
Mlh3	T	A	12: 85,314,803 (GRCm39)	Q461L	probably benign	Het
Mto1	G	T	9: 78,355,598 (GRCm39)	R7L	probably benign	Het
Muc4	A	T	16: 32,570,676 (GRCm39)	S579C	probably damaging	Het
Ngfr	T	C	11: 95,469,027 (GRCm39)	Y117C	probably damaging	Het
Or10aa3	A	T	1: 173,878,553 (GRCm39)	I205F	possibly damaging	Het
Or13a23-ps1	A	T	7: 140,118,690 (GRCm39)	M87L	probably benign	Het
Or8d2b	C	A	9: 38,789,196 (GRCm39)	H241Q	probably benign	Het
Plch2	A	G	4: 155,091,577 (GRCm39)	S179P	probably damaging	Het
Pogz	T	G	3: 94,785,558 (GRCm39)	S838A	possibly damaging	Het
Polr1has	CACCACCACCAC	CACCACCACCACCACCACCACGACCACCACCAC	17: 37,275,952 (GRCm39)		probably benign	Het
Pot1b	T	A	17: 55,981,106 (GRCm39)	T303S	probably benign	Het
Pou2f2	T	A	7: 24,815,162 (GRCm39)	I72L	unknown	Het
Ptpn4	A	G	1: 119,612,195 (GRCm39)		probably null	Het
Ptprs	A	T	17: 56,723,935 (GRCm39)	I1686N	probably damaging	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,518 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,384,439 (GRCm39)	T186A	possibly damaging	Het
Six3	CGG	CGGTGG	17: 85,928,784 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Spmap2l	CAGCGATCCTCCCCAGTCCCGCA	CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA	5: 77,164,247 (GRCm39)		probably benign	Het
Stox1	T	A	10: 62,500,025 (GRCm39)	H845L	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,086 (GRCm39)		probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,673,132 (GRCm39)		probably benign	Het
Trim33	T	C	3: 103,236,408 (GRCm39)	V506A	possibly damaging	Het
Uckl1	T	C	2: 181,211,987 (GRCm39)	D373G	probably benign	Het
Vmn2r94	G	T	17: 18,473,549 (GRCm39)	C492*	probably null	Het
Wdr33	A	G	18: 32,014,326 (GRCm39)	D396G	probably damaging	Het
Ypel1	C	T	16: 16,915,282 (GRCm39)	V109M	probably damaging	Het
Zbtb11	A	T	16: 55,800,960 (GRCm39)	I105L	probably damaging	Het
Zbtb40	A	T	4: 136,744,617 (GRCm39)	C268S	probably benign	Het
Zfp36l1	T	A	12: 80,156,518 (GRCm39)	M288L	probably benign	Het
Zfp384	CC	CCAAGGCCCAGGAC	6: 125,013,429 (GRCm39)		probably benign	Het
Zfp87	A	G	13: 74,523,173 (GRCm39)	F15S	probably benign	Het

Other mutations in Rnf14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Aloft	UTSW	18	38,441,435 (GRCm39)	missense	probably damaging	1.00
souffle	UTSW	18	38,442,629 (GRCm39)	missense	probably damaging	1.00
R1682:Rnf14	UTSW	18	38,441,242 (GRCm39)	missense	probably benign	0.00
R2299:Rnf14	UTSW	18	38,441,138 (GRCm39)	missense	probably benign	0.03
R4246:Rnf14	UTSW	18	38,434,701 (GRCm39)	splice site	probably null
R4941:Rnf14	UTSW	18	38,441,435 (GRCm39)	missense	probably damaging	1.00
R5056:Rnf14	UTSW	18	38,441,441 (GRCm39)	missense	probably damaging	1.00
R6082:Rnf14	UTSW	18	38,434,723 (GRCm39)	missense	possibly damaging	0.69
R7070:Rnf14	UTSW	18	38,434,781 (GRCm39)	missense	possibly damaging	0.66
R7772:Rnf14	UTSW	18	38,442,629 (GRCm39)	missense	probably damaging	1.00
R8903:Rnf14	UTSW	18	38,446,267 (GRCm39)	missense	probably benign	0.02
R9393:Rnf14	UTSW	18	38,442,680 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACTATTGCAAAACCCGCTTTG -3'
(R):5'- TGAGAGTTGGGTTCAGTTACAAC -3'

Sequencing Primer
(F):5'- AAAACCCGCTTTGCTTCTGGAATG -3'
(R):5'- GGGTTCAGTTACAACATACCTGCAG -3'

Posted On

2019-12-04