Mutagenetix > Incidental Mutation

Incidental Mutation 'R9439:Rnf126'

713449

Institutional Source

Beutler Lab

Gene Symbol

Rnf126

Ensembl Gene

ENSMUSG00000035890

Gene Name

ring finger protein 126

Synonyms

2610010O19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

R9439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79594349-79602786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79597465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 149 (I149N)

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 damaging
Transcript: ENSMUST00000047203
AA Change: I149N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039486
Gene: ENSMUSG00000035890
AA Change: I149N

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

noncoding transcript
Transcript: ENSMUST00000218770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219189

Predicted Effect

probably benign
Transcript: ENSMUST00000219228

Predicted Effect

probably benign
Transcript: ENSMUST00000219981

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,048 (GRCm39)	E412D	probably benign	Het
Aak1	T	A	6: 86,933,274 (GRCm39)	V415D	probably damaging	Het
Ache	A	C	5: 137,289,185 (GRCm39)	D297A	probably damaging	Het
Armc9	T	C	1: 86,084,687 (GRCm39)	I4T	possibly damaging	Het
Atp8b2	T	A	3: 89,851,492 (GRCm39)	Y925F		Het
Avpr1b	T	C	1: 131,528,029 (GRCm39)	L184P	probably damaging	Het
Cabin1	G	A	10: 75,581,069 (GRCm39)	P419L	probably damaging	Het
Ccdc88c	T	C	12: 100,884,597 (GRCm39)	S1578G	probably benign	Het
Ccnd2	A	T	6: 127,127,617 (GRCm39)	C40*	probably null	Het
Col6a3	A	T	1: 90,744,155 (GRCm39)	I471N	probably damaging	Het
Cp	A	G	3: 20,046,671 (GRCm39)		probably null	Het
Cyfip2	C	T	11: 46,091,668 (GRCm39)	R1084Q	probably damaging	Het
Diaph1	A	G	18: 38,029,412 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,012,330 (GRCm39)	N3713S	possibly damaging	Het
Dot1l	G	T	10: 80,621,438 (GRCm39)	R633L	possibly damaging	Het
Ehmt1	A	T	2: 24,715,030 (GRCm39)	M809K	probably damaging	Het
Fcgbp	C	A	7: 27,803,436 (GRCm39)	A1680E	possibly damaging	Het
Flt1	A	G	5: 147,515,207 (GRCm39)	F1072L	probably damaging	Het
Gm19410	G	T	8: 36,248,810 (GRCm39)	A549S	probably damaging	Het
Gm57859	C	T	11: 113,583,229 (GRCm39)	Q519*	probably null	Het
Gnat1	A	T	9: 107,553,511 (GRCm39)	I249N		Het
Gp2	T	C	7: 119,053,433 (GRCm39)	Y176C	probably damaging	Het
Gpc2	G	T	5: 138,277,248 (GRCm39)	Q60K	probably benign	Het
Gpsm2	T	A	3: 108,610,397 (GRCm39)	E21V	probably damaging	Het
Igkv4-80	T	A	6: 68,993,793 (GRCm39)	M33L	probably benign	Het
Il20ra	C	A	10: 19,618,751 (GRCm39)	H66Q	probably benign	Het
Kap	C	T	6: 133,828,950 (GRCm39)	D61N	probably benign	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Mpp7	A	T	18: 7,461,692 (GRCm39)	Y60*	probably null	Het
Neil1	T	A	9: 57,051,098 (GRCm39)	R294*	probably null	Het
Nkx6-3	A	G	8: 23,643,778 (GRCm39)	S60G	probably benign	Het
Noc2l	T	A	4: 156,326,130 (GRCm39)	S406T	possibly damaging	Het
Or11m3	T	C	15: 98,396,247 (GRCm39)	V298A	possibly damaging	Het
Or14j2	A	G	17: 37,885,825 (GRCm39)	I163T	probably benign	Het
Or2h2c	A	G	17: 37,422,205 (GRCm39)	V223A	probably damaging	Het
Or2t46	T	C	11: 58,472,104 (GRCm39)	C145R	probably benign	Het
Or51ac3	T	G	7: 103,214,049 (GRCm39)	I146L	probably benign	Het
Or5p81	T	C	7: 108,266,626 (GRCm39)	M1T	probably null	Het
Paqr4	A	G	17: 23,958,939 (GRCm39)	F21L	probably damaging	Het
Pcdha9	A	G	18: 37,131,527 (GRCm39)	T199A	probably benign	Het
Pcdhgb7	T	C	18: 37,884,917 (GRCm39)	L29P	probably benign	Het
Pfkl	G	A	10: 77,831,172 (GRCm39)	A323V	probably damaging	Het
Pik3r4	C	A	9: 105,528,041 (GRCm39)	P465T	probably damaging	Het
Pitpnm2	A	G	5: 124,274,189 (GRCm39)	S307P	probably damaging	Het
Pitpnm2	A	G	5: 124,278,659 (GRCm39)	Y191H	probably damaging	Het
Plod3	G	A	5: 137,023,036 (GRCm39)	V613I	probably benign	Het
Prr23a2	C	T	9: 98,738,921 (GRCm39)	T93I	probably damaging	Het
Ptk6	T	A	2: 180,840,206 (GRCm39)	M267L	possibly damaging	Het
Rabl6	C	T	2: 25,492,432 (GRCm39)		probably null	Het
Ralgapa2	T	C	2: 146,254,058 (GRCm39)	H787R	probably benign	Het
Rfx8	T	G	1: 39,724,669 (GRCm39)	M231L	probably benign	Het
Smpd4	A	G	16: 17,459,451 (GRCm39)	I625V	probably benign	Het
Tcf7l1	A	G	6: 72,765,740 (GRCm39)	S66P	probably damaging	Het
Tsc22d1	G	A	14: 76,743,899 (GRCm39)	V1007M	probably damaging	Het
Tspoap1	C	T	11: 87,665,535 (GRCm39)	R758C	probably damaging	Het
Vmn1r210	A	C	13: 23,011,397 (GRCm39)	H296Q	possibly damaging	Het
Zfp532	G	A	18: 65,818,714 (GRCm39)	V857I	probably benign	Het
Zfyve9	T	C	4: 108,501,538 (GRCm39)	T593A	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
RF022:Rnf126	UTSW	10	79,594,977 (GRCm39)	frame shift	probably null
RF023: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'- CTGTACCTGCGTGATGATGG -3'
(R):5'- ATCCCTGTGAAATAGTTGTACCC -3'

Sequencing Primer
(F):5'- ATGATGGTGTCCAGGCCG -3'
(R):5'- CCCTGTGAAATAGTTGTACCCAATGG -3'

Posted On

2022-05-16