Mutagenetix > Incidental Mutation

Incidental Mutation 'R6767:Rnf121'

531981

Institutional Source

Beutler Lab

Gene Symbol

Rnf121

Ensembl Gene

ENSMUSG00000070426

Gene Name

ring finger protein 121

Synonyms

4930544L10Rik

MMRRC Submission

044883-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R6767 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101668344-101714676 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101672619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 238 (F238L)

Ref Sequence

ENSEMBL: ENSMUSP00000102566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089052] [ENSMUST00000096639] [ENSMUST00000106953] [ENSMUST00000209368]

AlphaFold

Q8R1Z9

Predicted Effect

probably damaging
Transcript: ENSMUST00000089052
AA Change: F232L

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

SMART Domains

Protein: ENSMUSP00000086453
Gene: ENSMUSG00000070426
AA Change: F232L

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
transmembrane domain	56	73	N/A	INTRINSIC
transmembrane domain	78	97	N/A	INTRINSIC
transmembrane domain	117	139	N/A	INTRINSIC
transmembrane domain	152	169	N/A	INTRINSIC
RING	203	252	9.83e-4	SMART
transmembrane domain	279	301	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000096639
AA Change: F255L

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

SMART Domains

Protein: ENSMUSP00000094396
Gene: ENSMUSG00000070426
AA Change: F255L

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	79	96	N/A	INTRINSIC
transmembrane domain	101	120	N/A	INTRINSIC
transmembrane domain	140	162	N/A	INTRINSIC
transmembrane domain	175	192	N/A	INTRINSIC
RING	226	275	9.83e-4	SMART
transmembrane domain	302	324	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106953
AA Change: F238L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102566
Gene: ENSMUSG00000070426
AA Change: F238L

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	62	79	N/A	INTRINSIC
transmembrane domain	84	103	N/A	INTRINSIC
transmembrane domain	123	145	N/A	INTRINSIC
transmembrane domain	158	175	N/A	INTRINSIC
RING	209	258	9.83e-4	SMART
transmembrane domain	285	307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209368

Meta Mutation Damage Score

0.8691

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (67/67)

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, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Several alternatively spliced transcript variants have been noted for this gene, however, not all are likely to encode viable protein products. [provided by RefSeq, Sep 2008]

Allele List at MGI

All alleles(13) : Gene trapped(13)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	G	A	8: 44,079,951 (GRCm39)	T91I	probably damaging	Het
Ak7	A	G	12: 105,732,866 (GRCm39)	N537D	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Atp8a2	A	G	14: 60,284,171 (GRCm39)	F47S	probably damaging	Het
Cadps	T	A	14: 12,550,888 (GRCm38)	T449S	probably damaging	Het
Ccdc33	C	G	9: 57,940,527 (GRCm39)	Q489H	possibly damaging	Het
Cd163	T	G	6: 124,281,738 (GRCm39)	S14A	possibly damaging	Het
Cemip	G	A	7: 83,647,832 (GRCm39)	L83F	probably damaging	Het
Chrd	C	T	16: 20,557,376 (GRCm39)	P665L	probably benign	Het
Cib4	T	A	5: 30,691,589 (GRCm39)	H44L	probably benign	Het
Clic1	T	A	17: 35,272,029 (GRCm39)	L99Q	probably benign	Het
Cnst	C	T	1: 179,437,519 (GRCm39)	T361I	possibly damaging	Het
Dnah6	C	A	6: 73,110,591 (GRCm39)	V1613L	probably benign	Het
Dnajb8	T	C	6: 88,199,634 (GRCm39)	S57P	probably damaging	Het
Dyrk3	T	C	1: 131,057,327 (GRCm39)	H282R	probably damaging	Het
Fasn	T	C	11: 120,708,313 (GRCm39)	I651V	possibly damaging	Het
Gas6	A	G	8: 13,515,784 (GRCm39)	S663P	probably damaging	Het
Gbp8	T	C	5: 105,166,478 (GRCm39)	M284V	probably benign	Het
Gm12695	T	C	4: 96,650,933 (GRCm39)		probably null	Het
Gm6034	T	A	17: 36,354,023 (GRCm39)	M1K	probably null	Het
Gm9376	A	G	14: 118,504,648 (GRCm39)	T27A	unknown	Het
Grid2	A	G	6: 63,907,999 (GRCm39)	D213G	probably benign	Het
Gsdma3	A	T	11: 98,528,710 (GRCm39)	D388V	possibly damaging	Het
H4c2	T	A	13: 23,941,005 (GRCm39)	M1K	probably null	Het
Hdac9	T	A	12: 34,337,528 (GRCm39)	H716L	probably damaging	Het
Hivep1	T	C	13: 42,308,203 (GRCm39)	S148P	probably damaging	Het
Kctd1	T	C	18: 15,195,232 (GRCm39)	T464A	possibly damaging	Het
Kera	A	G	10: 97,445,034 (GRCm39)	D131G	possibly damaging	Het
Kif2c	C	T	4: 117,035,385 (GRCm39)	R21Q	probably benign	Het
Luc7l3	G	T	11: 94,183,779 (GRCm39)	D453E	probably damaging	Het
Mrpl9	A	G	3: 94,357,528 (GRCm39)		probably benign	Het
Mtss1	T	C	15: 58,825,430 (GRCm39)	S257G	probably benign	Het
N4bp2	T	C	5: 65,974,530 (GRCm39)	F1467L	probably damaging	Het
Naa25	T	C	5: 121,577,928 (GRCm39)	V945A	probably damaging	Het
Nrg1	T	C	8: 32,407,923 (GRCm39)	I103M	probably damaging	Het
Or2w1b	C	T	13: 21,300,227 (GRCm39)	R122C	probably benign	Het
Orm3	C	T	4: 63,274,531 (GRCm39)	T32I	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Plch1	A	T	3: 63,662,765 (GRCm39)	M246K	probably damaging	Het
Pld4	A	C	12: 112,730,549 (GRCm39)	D144A	possibly damaging	Het
Prelp	C	A	1: 133,840,448 (GRCm39)	V345L	probably benign	Het
Rnf40	A	G	7: 127,195,757 (GRCm39)	K667R	possibly damaging	Het
Scgb1b12	A	T	7: 32,033,920 (GRCm39)	N60I	probably damaging	Het
Serpina3n	T	G	12: 104,375,321 (GRCm39)	V131G	probably benign	Het
Slc22a21	T	C	11: 53,870,328 (GRCm39)	Y119C	probably damaging	Het
Slc22a28	A	G	19: 8,094,409 (GRCm39)	F204S	probably damaging	Het
Smc6	T	A	12: 11,321,821 (GRCm39)	D29E	possibly damaging	Het
Smgc	T	A	15: 91,725,601 (GRCm39)	F40Y	possibly damaging	Het
Sorcs3	G	T	19: 48,702,010 (GRCm39)	L630F	probably damaging	Het
Sphk1	A	G	11: 116,426,982 (GRCm39)	K306E	possibly damaging	Het
Spmip2	A	T	3: 79,337,330 (GRCm39)	D46V	probably benign	Het
Spsb1	C	T	4: 149,991,301 (GRCm39)	G89D	probably damaging	Het
Stat4	G	T	1: 52,115,742 (GRCm39)	M227I	probably benign	Het
Syngr4	A	G	7: 45,536,915 (GRCm39)	V116A	possibly damaging	Het
Tacc1	T	C	8: 25,730,816 (GRCm39)	M1V	probably null	Het
Tcf7l1	T	G	6: 72,608,275 (GRCm39)	K355Q	probably damaging	Het
Tmem192	T	C	8: 65,416,888 (GRCm39)	S36P	probably damaging	Het
Top3a	G	T	11: 60,641,579 (GRCm39)	N368K	possibly damaging	Het
Tpk1	T	A	6: 43,323,727 (GRCm39)	I241F	possibly damaging	Het
Trappc10	A	G	10: 78,029,345 (GRCm39)	I1064T	possibly damaging	Het
Vmn1r18	T	A	6: 57,367,206 (GRCm39)	K116M	probably damaging	Het
Vmn2r40	A	T	7: 8,923,139 (GRCm39)	H407Q	unknown	Het
Vmn2r91	T	A	17: 18,327,807 (GRCm39)	L467H	probably damaging	Het
Wdr59	G	T	8: 112,202,733 (GRCm39)	S603R	probably damaging	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp324	A	C	7: 12,704,527 (GRCm39)	K74N	probably null	Het
Zfyve16	A	G	13: 92,644,707 (GRCm39)	L1165P	probably damaging	Het

Other mutations in Rnf121

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Rnf121	APN	7	101,714,322 (GRCm39)	unclassified	probably benign
IGL01651:Rnf121	APN	7	101,691,862 (GRCm39)	missense	probably damaging	0.99
3-1:Rnf121	UTSW	7	101,688,792 (GRCm39)	missense	probably damaging	1.00
R0295:Rnf121	UTSW	7	101,684,553 (GRCm39)	missense	possibly damaging	0.80
R0385:Rnf121	UTSW	7	101,678,324 (GRCm39)	missense	possibly damaging	0.79
R1464:Rnf121	UTSW	7	101,680,782 (GRCm39)	missense	possibly damaging	0.74
R1464:Rnf121	UTSW	7	101,680,782 (GRCm39)	missense	possibly damaging	0.74
R3762:Rnf121	UTSW	7	101,673,244 (GRCm39)	missense	probably damaging	1.00
R4369:Rnf121	UTSW	7	101,673,313 (GRCm39)	missense	probably benign	0.00
R4852:Rnf121	UTSW	7	101,672,592 (GRCm39)	missense	probably damaging	1.00
R5502:Rnf121	UTSW	7	101,672,555 (GRCm39)	missense	probably null	0.99
R5784:Rnf121	UTSW	7	101,684,583 (GRCm39)	missense	probably benign	0.00
R6975:Rnf121	UTSW	7	101,673,218 (GRCm39)	critical splice donor site	probably null
R8263:Rnf121	UTSW	7	101,684,532 (GRCm39)	missense	probably damaging	1.00
R8747:Rnf121	UTSW	7	101,678,316 (GRCm39)	missense	probably damaging	1.00
R8785:Rnf121	UTSW	7	101,678,333 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAAATTGAATGCTGGAAGC -3'
(R):5'- CCCATTCTATGCCACATTGGG -3'

Sequencing Primer
(F):5'- GGAAGCAGTAGACTTTCTTCCCAC -3'
(R):5'- TGTAAATAAGGATCACTGCCCTC -3'

Posted On

2018-08-29