Mutagenetix > Incidental Mutation

Incidental Mutation 'RF023:Rnf126'

604001

Institutional Source

Beutler Lab

Gene Symbol

Rnf126

Ensembl Gene

ENSMUSG00000035890

Gene Name

ring finger protein 126

Synonyms

2610010O19Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

RF023 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

79594349-79602786 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AGGACGAGG to AG at 79594977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020577] [ENSMUST00000047203] [ENSMUST00000219228] [ENSMUST00000219981]

AlphaFold

Q91YL2

PDB Structure

Solution structure of the Zinc finger, C3HC4 type (RING finger) domain of RING finger protein 126 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000020577

SMART Domains

Protein: ENSMUSP00000020577
Gene: ENSMUSG00000020327

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FGF	30	159	1.73e-62	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000047203

SMART Domains

Protein: ENSMUSP00000039486
Gene: ENSMUSG00000035890

Domain	Start	End	E-Value	Type
Pfam:zinc_ribbon_9	9	40	5e-11	PFAM
low complexity region	109	121	N/A	INTRINSIC
low complexity region	124	139	N/A	INTRINSIC
RING	231	271	5.68e-9	SMART
low complexity region	293	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219228

Predicted Effect

probably benign
Transcript: ENSMUST00000219981

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

96% (24/25)

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 finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,818 (GRCm39)		probably benign	Het
5430401F13Rik	AAAAACAGAAAGGAAAAGGTGGCCAG	AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,841 (GRCm39)		probably benign	Het
A030005L19Rik	TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG	TGGCTGTGGCTGTGG	1: 82,891,117 (GRCm39)		probably benign	Het
Amot	GCAACAGCAAC	GC	X: 144,233,999 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arhgef5	T	A	6: 43,256,407 (GRCm39)	S1172T	probably damaging	Het
Bltp1	T	TTATTATTATTATTAG	3: 37,104,909 (GRCm39)		probably benign	Het
Cacna2d4	G	A	6: 119,245,191 (GRCm39)	V300I	probably benign	Het
Calhm1	GTGGC	GTGGCTGTGGCTTTGGC	19: 47,129,712 (GRCm39)		probably benign	Het
Camk2b	T	C	11: 5,922,301 (GRCm39)	T516A	probably damaging	Het
Ccdc170	CCA	CCAACA	10: 4,511,018 (GRCm39)		probably benign	Het
Cdhr3	G	T	12: 33,110,348 (GRCm39)	S312Y	probably damaging	Het
Cdk1	C	T	10: 69,176,328 (GRCm39)	G260S	possibly damaging	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,865,876 (GRCm39)		probably benign	Het
Cenpp	A	T	13: 49,803,620 (GRCm39)	V88E	probably benign	Het
Cfap46	TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC	TCTTCTCCTTCTCCTTCTCC	7: 139,218,834 (GRCm39)			Het
Dnah11	T	A	12: 117,918,585 (GRCm39)	R3449W	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,821,427 (GRCm39)		probably null	Het
E4f1	AGGC	AGGCGGC	17: 24,674,157 (GRCm39)		probably benign	Het
Efhd2	CCGCCG	CCGCCGGCGCCG	4: 141,602,073 (GRCm39)		probably benign	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,378 (GRCm39)		probably null	Het
Exd2	GCAGCAGCCGCAGCCACAGC	GCAGC	12: 80,522,689 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 71,313,660 (GRCm39)		probably benign	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Herc1	G	C	9: 66,365,616 (GRCm39)	G324R		Het
Hsdl2	CAGCCACAGCTGCAG	CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG	4: 59,610,644 (GRCm39)		probably benign	Het
Il2	GCTTGAAG	GCTTGAAGCGGGCCTTGAAG	3: 37,179,969 (GRCm39)		probably benign	Het
Krtap28-10	CAG	CAGCCCTAG	1: 83,019,867 (GRCm39)		probably null	Het
Krtap28-10	ACAGC	ACAGCCACGGCCACCGCAGC	1: 83,020,007 (GRCm39)		probably benign	Het
Krtap4-9	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	11: 99,676,217 (GRCm39)		probably benign	Het
Lce1m	TGCTGCC	TGCTGCCCCCGCCGCTGCC	3: 92,925,587 (GRCm39)		probably benign	Het
Lrch1	TGGTGGTG	T	14: 75,185,006 (GRCm39)		probably null	Het
Mgam	C	T	6: 40,657,642 (GRCm39)	T999I	probably benign	Het
Mrtfa	T	C	15: 80,900,057 (GRCm39)	E740G	probably damaging	Het
Nek1	A	G	8: 61,525,779 (GRCm39)		probably null	Het
Phactr2	T	A	10: 13,121,178 (GRCm39)	Q503H	probably benign	Het
Ptprd	T	C	4: 76,046,802 (GRCm39)	Y241C	probably damaging	Het
Rad51ap2	T	G	12: 11,508,076 (GRCm39)	V666G	possibly damaging	Het
Reep1	CC	CCCGAC	6: 71,684,952 (GRCm39)		probably null	Het
Rfx4	CTCTCTCTCT	CTCTCTCTCTCTCTCTCTGTCTCTCTCT	10: 84,694,349 (GRCm39)		probably benign	Het
Rnpc3	A	T	3: 113,413,723 (GRCm39)	S240T	probably damaging	Het
Rtbdn	GCAGCG	GCAGCGTCAGCG	8: 85,682,795 (GRCm39)		probably benign	Het
Sec31b	G	T	19: 44,524,226 (GRCm39)	A138D	probably damaging	Het
Syne1	A	T	10: 5,205,482 (GRCm39)	W3495R	probably damaging	Het
Tgoln1	CC	CCCGTGGGCTTGCCAGAATTACCTTC	6: 72,593,063 (GRCm39)		probably benign	Het
Tmtc3	T	C	10: 100,313,728 (GRCm39)	H48R	probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGATGCTGCT	15: 72,673,173 (GRCm39)		probably benign	Het
Trappc9	T	TGCTGCTGCTGCTGCC	15: 72,673,180 (GRCm39)		probably benign	Het
Vsig2	T	A	9: 37,450,559 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,300,255 (GRCm39)	T152A	probably benign	Het

Other mutations in Rnf126

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB007:Rnf126	UTSW	10	79,596,726 (GRCm39)	missense	probably damaging	1.00
BB017:Rnf126	UTSW	10	79,596,726 (GRCm39)	missense	probably damaging	1.00
R0087:Rnf126	UTSW	10	79,595,068 (GRCm39)	missense	probably damaging	0.97
R0302:Rnf126	UTSW	10	79,595,057 (GRCm39)	missense	probably damaging	1.00
R0418:Rnf126	UTSW	10	79,598,477 (GRCm39)	unclassified	probably benign
R0671:Rnf126	UTSW	10	79,597,441 (GRCm39)	missense	possibly damaging	0.83
R1403:Rnf126	UTSW	10	79,596,702 (GRCm39)	missense	probably benign	0.00
R1449:Rnf126	UTSW	10	79,597,448 (GRCm39)	missense	probably benign	0.31
R2058:Rnf126	UTSW	10	79,594,971 (GRCm39)	unclassified	probably benign
R3153:Rnf126	UTSW	10	79,597,465 (GRCm39)	missense	probably damaging	1.00
R3154:Rnf126	UTSW	10	79,597,465 (GRCm39)	missense	probably damaging	1.00
R5535:Rnf126	UTSW	10	79,598,533 (GRCm39)	missense	probably damaging	1.00
R5815:Rnf126	UTSW	10	79,602,603 (GRCm39)	missense	probably benign	0.03
R6622:Rnf126	UTSW	10	79,597,397 (GRCm39)	critical splice donor site	probably null
R6748:Rnf126	UTSW	10	79,597,970 (GRCm39)	missense	probably benign	0.00
R7930:Rnf126	UTSW	10	79,596,726 (GRCm39)	missense	probably damaging	1.00
R9439:Rnf126	UTSW	10	79,597,465 (GRCm39)	missense	probably damaging	1.00
RF022:Rnf126	UTSW	10	79,594,977 (GRCm39)	frame shift	probably null
RF056:Rnf126	UTSW	10	79,594,976 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TAAGACGGACTGAAGGTGCC -3'
(R):5'- TTGAACCATTACCCCGACTC -3'

Sequencing Primer
(F):5'- ACTGAAGGTGCCTGCCTG -3'
(R):5'- GACTCCAAACCTAATTGTATCCTTGG -3'

Posted On

2019-12-04