Mutagenetix > Incidental Mutation

Incidental Mutation 'R1024:Rnf146'

98762

Institutional Source

Beutler Lab

Gene Symbol

Rnf146

Ensembl Gene

ENSMUSG00000038876

Gene Name

ring finger protein 146

Synonyms

2610509H23Rik, Iduna

MMRRC Submission

039126-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R1024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29220172-29238438 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 29223092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 265 (R265*)

Ref Sequence

ENSEMBL: ENSMUSP00000124772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020034] [ENSMUST00000037548] [ENSMUST00000160144] [ENSMUST00000160372] [ENSMUST00000160399] [ENSMUST00000161508] [ENSMUST00000161605] [ENSMUST00000162335] [ENSMUST00000214896]

AlphaFold

Q9CZW6

Predicted Effect

probably benign
Transcript: ENSMUST00000020034

SMART Domains

Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883

Domain	Start	End	E-Value	Type
Pfam:ECH_1	74	307	4.8e-39	PFAM
Pfam:ECH_2	79	321	4.5e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000037548
AA Change: R265*

SMART Domains

Protein: ENSMUSP00000037224
Gene: ENSMUSG00000038876
AA Change: R265*

Domain	Start	End	E-Value	Type
RING	38	75	1.79e-6	SMART
WWE	102	177	4.93e-35	SMART
low complexity region	197	212	N/A	INTRINSIC
low complexity region	282	304	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000160144
AA Change: R265*

SMART Domains

Protein: ENSMUSP00000124288
Gene: ENSMUSG00000038876
AA Change: R265*

Domain	Start	End	E-Value	Type
RING	38	75	1.79e-6	SMART
WWE	102	177	4.93e-35	SMART
low complexity region	197	212	N/A	INTRINSIC
low complexity region	282	304	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000160372
AA Change: R265*

SMART Domains

Protein: ENSMUSP00000124215
Gene: ENSMUSG00000038876
AA Change: R265*

Domain	Start	End	E-Value	Type
RING	38	75	1.79e-6	SMART
WWE	102	177	4.93e-35	SMART
low complexity region	197	212	N/A	INTRINSIC
low complexity region	282	304	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160399

SMART Domains

Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883

Domain	Start	End	E-Value	Type
Pfam:ECH	49	293	1.6e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161508

SMART Domains

Protein: ENSMUSP00000124814
Gene: ENSMUSG00000038876

Domain	Start	End	E-Value	Type
RING	38	75	1.79e-6	SMART
WWE	102	177	4.93e-35	SMART
low complexity region	197	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161605

SMART Domains

Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883

Domain	Start	End	E-Value	Type
Pfam:ECH	49	165	4.4e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000162335
AA Change: R265*

SMART Domains

Protein: ENSMUSP00000124772
Gene: ENSMUSG00000038876
AA Change: R265*

Domain	Start	End	E-Value	Type
RING	38	75	1.79e-6	SMART
WWE	102	177	4.93e-35	SMART
low complexity region	197	212	N/A	INTRINSIC
low complexity region	282	304	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215840

Predicted Effect

probably benign
Transcript: ENSMUST00000214896

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 90.2%

Validation Efficiency

90% (36/40)

MGI Phenotype

PHENOTYPE: Mice homozygous for a conditional allele activated in immune cells exhibit osteopenia with enhanced osteoclastogenesis. Mice homozygous for a conditional allele activated in osteoblast exhibit ostepenia with impaired osteoblast numbers, increased adipogenesis and impaired glucose tolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,327,157 (GRCm39)	S719P	probably damaging	Het
Atxn2l	A	T	7: 126,096,466 (GRCm39)	N425K	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Cacna2d2	T	C	9: 107,404,249 (GRCm39)		probably null	Het
Ccar2	A	G	14: 70,377,964 (GRCm39)	S674P	probably damaging	Het
Ccm2	T	A	11: 6,520,119 (GRCm39)	Y56*	probably null	Het
Cdc14b	A	T	13: 64,363,490 (GRCm39)	V257E	probably damaging	Het
Cdca8	A	C	4: 124,815,798 (GRCm39)	S171R	probably benign	Het
Cep192	C	T	18: 67,971,125 (GRCm39)	T1042I	probably benign	Het
Cfap100	T	A	6: 90,389,986 (GRCm39)	T101S	possibly damaging	Het
Cfap46	T	A	7: 139,222,513 (GRCm39)	M1155L	probably benign	Het
Cyp3a13	T	A	5: 137,892,626 (GRCm39)	I473F	possibly damaging	Het
Dclk3	A	G	9: 111,298,138 (GRCm39)	I561V	possibly damaging	Het
Dock6	A	T	9: 21,744,908 (GRCm39)	L556H	probably damaging	Het
Dqx1	G	A	6: 83,038,070 (GRCm39)	C486Y	probably damaging	Het
Drd1	T	A	13: 54,207,333 (GRCm39)	M294L	probably benign	Het
Dsel	A	G	1: 111,788,403 (GRCm39)	S711P	probably damaging	Het
Fcho2	A	T	13: 98,869,167 (GRCm39)	I568N	probably damaging	Het
Folr1	A	G	7: 101,507,810 (GRCm39)	M210T	probably damaging	Het
Gatc	T	A	5: 115,478,904 (GRCm39)		probably null	Het
Gja8	A	T	3: 96,826,740 (GRCm39)	F307L	probably benign	Het
H1f7	G	A	15: 98,154,636 (GRCm39)	T171I	unknown	Het
Hnrnpd	C	A	5: 100,114,016 (GRCm39)	*87L	probably null	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Igfals	G	A	17: 25,099,457 (GRCm39)	V183M	probably damaging	Het
Izumo1	A	G	7: 45,276,598 (GRCm39)	Y387C	probably benign	Het
Kdm5a	A	G	6: 120,375,999 (GRCm39)	N585S	probably null	Het
Marchf2	C	A	17: 33,928,762 (GRCm39)	G45C	probably damaging	Het
Myo15a	A	T	11: 60,370,442 (GRCm39)	R1067S	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nell1	A	G	7: 49,770,411 (GRCm39)	S157G	probably damaging	Het
Nf1	A	T	11: 79,437,859 (GRCm39)	E2072D	probably damaging	Het
Nipal1	CGGG	CGG	5: 72,825,334 (GRCm39)		probably null	Het
Nop2	T	A	6: 125,114,149 (GRCm39)	V205E	probably benign	Het
Nphs1	G	T	7: 30,173,702 (GRCm39)	S939I	probably damaging	Het
Nudt8	T	A	19: 4,051,925 (GRCm39)	W179R	probably damaging	Het
Nutm1	A	T	2: 112,080,274 (GRCm39)	I547N	probably benign	Het
Oog2	A	C	4: 143,922,856 (GRCm39)	T374P	probably damaging	Het
Or4k5	A	T	14: 50,385,384 (GRCm39)	F316I	probably benign	Het
Or8b54	C	A	9: 38,686,631 (GRCm39)	L27I	probably damaging	Het
Otud4	T	A	8: 80,390,722 (GRCm39)	M413K	probably benign	Het
Pear1	A	G	3: 87,667,606 (GRCm39)		probably benign	Het
Pla2g3	G	A	11: 3,438,551 (GRCm39)	C67Y	probably damaging	Het
Plxdc2	A	G	2: 16,716,917 (GRCm39)	T334A	probably benign	Het
Ppl	G	A	16: 4,917,864 (GRCm39)	R543W	probably damaging	Het
Prl5a1	G	A	13: 28,333,880 (GRCm39)	V128I	probably damaging	Het
Pth1r	A	T	9: 110,571,295 (GRCm39)	L25Q	probably damaging	Het
Pth1r	T	C	9: 110,558,689 (GRCm39)	D96G	probably benign	Het
Rfpl4	G	T	7: 5,113,517 (GRCm39)	D215E	probably damaging	Het
Rpe65	T	C	3: 159,312,122 (GRCm39)	I207T	probably benign	Het
Rptn	A	G	3: 93,305,532 (GRCm39)	E955G	possibly damaging	Het
Rwdd2b	A	T	16: 87,233,738 (GRCm39)	C121S	probably damaging	Het
Scn10a	A	G	9: 119,438,340 (GRCm39)	I1843T	probably damaging	Het
Sirt5	A	G	13: 43,524,245 (GRCm39)	I6V	probably benign	Het
Slc25a36	A	G	9: 96,961,254 (GRCm39)	Y261H	probably damaging	Het
Slc5a3	G	A	16: 91,874,383 (GRCm39)	A147T	probably damaging	Het
Stk39	T	C	2: 68,240,390 (GRCm39)	S114G	probably damaging	Het
Stxbp1	T	C	2: 32,704,979 (GRCm39)		probably null	Het
Syt3	G	T	7: 44,040,106 (GRCm39)	G113V	probably damaging	Het
Tatdn2	A	G	6: 113,686,506 (GRCm39)	T644A	probably damaging	Het
Trim9	T	A	12: 70,298,791 (GRCm39)		probably null	Het
Tut1	A	G	19: 8,936,719 (GRCm39)	N181S	probably benign	Het
Vill	T	C	9: 118,895,892 (GRCm39)	S151P	probably damaging	Het
Vmn2r90	A	T	17: 17,948,400 (GRCm39)	I549F	probably damaging	Het
Wdfy4	T	C	14: 32,801,923 (GRCm39)	T1912A	possibly damaging	Het

Other mutations in Rnf146

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Rnf146	APN	10	29,223,856 (GRCm39)	missense	probably damaging	0.99
IGL02151:Rnf146	APN	10	29,223,349 (GRCm39)	missense	probably damaging	1.00
R1757:Rnf146	UTSW	10	29,223,475 (GRCm39)	missense	probably damaging	0.99
R1844:Rnf146	UTSW	10	29,223,720 (GRCm39)	missense	probably damaging	1.00
R1923:Rnf146	UTSW	10	29,223,715 (GRCm39)	missense	probably damaging	1.00
R3404:Rnf146	UTSW	10	29,223,424 (GRCm39)	missense	possibly damaging	0.91
R4060:Rnf146	UTSW	10	29,223,363 (GRCm39)	missense	probably damaging	1.00
R5689:Rnf146	UTSW	10	29,223,800 (GRCm39)	missense	probably benign
R6742:Rnf146	UTSW	10	29,223,528 (GRCm39)	missense	probably damaging	1.00
R7459:Rnf146	UTSW	10	29,223,640 (GRCm39)	missense	probably benign	0.08
R8126:Rnf146	UTSW	10	29,223,372 (GRCm39)	missense	probably damaging	0.99
R8899:Rnf146	UTSW	10	29,223,754 (GRCm39)	missense	probably benign	0.04
R9037:Rnf146	UTSW	10	29,223,676 (GRCm39)	missense	probably benign	0.01
R9128:Rnf146	UTSW	10	29,223,539 (GRCm39)	missense	probably damaging	1.00
X0067:Rnf146	UTSW	10	29,223,784 (GRCm39)	missense	probably benign	0.09
Z1088:Rnf146	UTSW	10	29,223,568 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTGGAACCAAAGGTCTCTGTTGGG -3'
(R):5'- GGCTGGACTGTGACACCAATACTG -3'

Sequencing Primer
(F):5'- CAAAGGTCTCTGTTGGGTCAAAG -3'
(R):5'- GGACTGTGACACCAATACTGTAAATC -3'

Posted On

2014-01-09