Mutagenetix > Incidental Mutation

Incidental Mutation 'R1844:Rnf146'

207562

Institutional Source

Beutler Lab

Gene Symbol

Rnf146

Ensembl Gene

ENSMUSG00000038876

Gene Name

ring finger protein 146

Synonyms

2610509H23Rik, Iduna

MMRRC Submission

039869-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R1844 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29220172-29238438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29223720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 55 (H55Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149976 (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 damaging
Transcript: ENSMUST00000037548
AA Change: H55Q

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

SMART Domains

Protein: ENSMUSP00000037224
Gene: ENSMUSG00000038876
AA Change: H55Q

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 damaging
Transcript: ENSMUST00000160144
AA Change: H55Q

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

SMART Domains

Protein: ENSMUSP00000124288
Gene: ENSMUSG00000038876
AA Change: H55Q

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 damaging
Transcript: ENSMUST00000160372
AA Change: H55Q

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

SMART Domains

Protein: ENSMUSP00000124215
Gene: ENSMUSG00000038876
AA Change: H55Q

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 damaging
Transcript: ENSMUST00000161508
AA Change: H55Q

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

SMART Domains

Protein: ENSMUSP00000124814
Gene: ENSMUSG00000038876
AA Change: H55Q

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 damaging
Transcript: ENSMUST00000162335
AA Change: H55Q

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

SMART Domains

Protein: ENSMUSP00000124772
Gene: ENSMUSG00000038876
AA Change: H55Q

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

probably damaging
Transcript: ENSMUST00000214896
AA Change: H55Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215840

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.1%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	A	G	4: 40,197,566 (GRCm39)	K857E	probably benign	Het
Adam20	A	G	8: 41,249,080 (GRCm39)	N397D	probably benign	Het
Adgrf3	T	G	5: 30,404,211 (GRCm39)	D347A	probably damaging	Het
Ang6	C	T	14: 44,239,330 (GRCm39)	E133K	possibly damaging	Het
Arhgap23	T	A	11: 97,354,234 (GRCm39)	W205R	probably damaging	Het
Arhgef40	C	A	14: 52,235,080 (GRCm39)	R1086S	probably damaging	Het
Atr	G	T	9: 95,787,870 (GRCm39)	A1488S	probably benign	Het
Cabin1	A	T	10: 75,579,184 (GRCm39)		probably null	Het
Cby2	C	T	14: 75,820,850 (GRCm39)	V292I	probably benign	Het
Cdh22	A	C	2: 164,985,614 (GRCm39)	F324C	probably damaging	Het
Cep350	T	C	1: 155,724,374 (GRCm39)	I3075V	probably damaging	Het
Chd9	A	T	8: 91,683,323 (GRCm39)	K588*	probably null	Het
Clns1a	A	T	7: 97,346,066 (GRCm39)	I44F	probably damaging	Het
Colgalt1	T	C	8: 72,063,995 (GRCm39)	I51T	possibly damaging	Het
Cpt2	C	T	4: 107,761,452 (GRCm39)	E217K	possibly damaging	Het
Ctss	A	G	3: 95,454,105 (GRCm39)		probably null	Het
Cyp1a1	A	G	9: 57,609,980 (GRCm39)	T465A	probably benign	Het
Dbn1	A	G	13: 55,629,160 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,018,143 (GRCm39)		probably null	Het
Dnajc1	A	C	2: 18,298,838 (GRCm39)	Y49*	probably null	Het
Dock10	T	A	1: 80,520,918 (GRCm39)	I1188L	probably damaging	Het
Dsg1c	T	G	18: 20,416,096 (GRCm39)		probably null	Het
Efcab6	G	A	15: 83,851,822 (GRCm39)	T352I	possibly damaging	Het
Eps8l3	T	C	3: 107,786,902 (GRCm39)	L26P	possibly damaging	Het
Fbxw26	A	G	9: 109,553,946 (GRCm39)	V231A	probably benign	Het
Fetub	G	A	16: 22,754,419 (GRCm39)	E209K	possibly damaging	Het
Galc	A	T	12: 98,212,556 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,222,892 (GRCm39)	N65K	probably benign	Het
Gstp3	A	G	19: 4,107,540 (GRCm39)	I208T	probably benign	Het
Gtpbp3	A	G	8: 71,945,272 (GRCm39)	Y448C	probably benign	Het
Hdac7	G	T	15: 97,705,857 (GRCm39)	Q385K	probably damaging	Het
Hemgn	C	T	4: 46,396,655 (GRCm39)	V194M	possibly damaging	Het
Idh2	G	C	7: 79,748,625 (GRCm39)	T113R	probably benign	Het
Jarid2	A	C	13: 45,056,219 (GRCm39)	K336T	possibly damaging	Het
Kcnj4	C	T	15: 79,369,216 (GRCm39)	V255M	probably damaging	Het
Ldhb	C	A	6: 142,439,934 (GRCm39)	W202L	probably damaging	Het
Lmbrd2	T	A	15: 9,177,838 (GRCm39)	Y512*	probably null	Het
Lrp1	A	G	10: 127,431,152 (GRCm39)		probably null	Het
Map3k12	G	A	15: 102,411,970 (GRCm39)	P365S	probably damaging	Het
Map3k5	G	A	10: 19,979,909 (GRCm39)	D806N	probably benign	Het
Matn3	A	G	12: 9,017,662 (GRCm39)	E438G	possibly damaging	Het
Mcmbp	G	A	7: 128,325,698 (GRCm39)	L97F	probably damaging	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Mphosph8	T	C	14: 56,934,616 (GRCm39)	V855A	probably damaging	Het
Mycbp2	T	A	14: 103,393,150 (GRCm39)	H3027L	possibly damaging	Het
Nbea	C	T	3: 55,989,857 (GRCm39)	R333H	probably damaging	Het
Notch1	G	T	2: 26,350,446 (GRCm39)	H2231Q	probably benign	Het
Npas2	A	T	1: 39,364,456 (GRCm39)	H266L	probably damaging	Het
Oas3	A	G	5: 120,898,045 (GRCm39)	S833P	probably damaging	Het
Or1j15	T	C	2: 36,458,789 (GRCm39)	Y60H	probably damaging	Het
Or5ak24	T	C	2: 85,260,265 (GRCm39)	T303A	probably benign	Het
Or5w17	A	C	2: 87,584,334 (GRCm39)	M1R	probably null	Het
Or6c65	G	A	10: 129,603,725 (GRCm39)	R120H	probably benign	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pitpnm1	T	C	19: 4,162,395 (GRCm39)	V1075A	probably damaging	Het
Pkp3	G	A	7: 140,668,415 (GRCm39)	V555M	probably damaging	Het
Plekhm2	T	C	4: 141,359,685 (GRCm39)	T381A	probably benign	Het
Plppr3	A	G	10: 79,702,244 (GRCm39)		probably null	Het
Ppp2r5e	A	T	12: 75,516,540 (GRCm39)	F216I	possibly damaging	Het
Ppp3ca	T	A	3: 136,627,672 (GRCm39)	V412D	probably benign	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Psph	A	C	5: 129,843,532 (GRCm39)	I174R	probably damaging	Het
Ptov1	A	G	7: 44,514,991 (GRCm39)	Y207H	possibly damaging	Het
Ptprs	A	G	17: 56,741,510 (GRCm39)	S585P	probably damaging	Het
Rnf213	T	A	11: 119,332,009 (GRCm39)	M2407K	probably damaging	Het
Rnls	A	C	19: 33,179,931 (GRCm39)	L55R	possibly damaging	Het
Rptor	T	C	11: 119,647,146 (GRCm39)	C246R	probably damaging	Het
Rrp12	C	T	19: 41,866,222 (GRCm39)		probably null	Het
Samd3	A	G	10: 26,127,672 (GRCm39)	D223G	probably damaging	Het
Sdad1	G	A	5: 92,453,155 (GRCm39)	Q68*	probably null	Het
Selenov	G	A	7: 27,989,847 (GRCm39)	T219M	probably damaging	Het
Shd	A	G	17: 56,278,554 (GRCm39)	D39G	possibly damaging	Het
Slc26a10	A	T	10: 127,014,279 (GRCm39)	V245E	probably damaging	Het
Slit1	A	G	19: 41,614,012 (GRCm39)	L820P	probably damaging	Het
Snap23	T	C	2: 120,421,163 (GRCm39)	F96L	probably benign	Het
Speer1k	T	C	5: 10,998,994 (GRCm39)		probably benign	Het
Spef1l	A	T	7: 139,556,005 (GRCm39)	I212N	probably benign	Het
Stkld1	A	G	2: 26,840,115 (GRCm39)	H395R	probably damaging	Het
Syt13	G	A	2: 92,771,165 (GRCm39)	G84D	probably damaging	Het
Terb2	T	A	2: 122,016,990 (GRCm39)	L37Q	probably damaging	Het
Themis	A	G	10: 28,657,753 (GRCm39)	Y107C	probably damaging	Het
Top2a	T	A	11: 98,906,895 (GRCm39)	T249S	probably benign	Het
Tspo2	A	T	17: 48,756,148 (GRCm39)	F71Y	probably damaging	Het
Ttc21b	T	A	2: 66,053,921 (GRCm39)	K753*	probably null	Het
Ttk	A	G	9: 83,736,915 (GRCm39)	Y458C	possibly damaging	Het
Ttn	T	C	2: 76,586,017 (GRCm39)	R21905G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,254 (GRCm39)	F88I	probably benign	Het
Vmn1r119	A	G	7: 20,746,121 (GRCm39)	L87P	probably damaging	Het
Vmn1r36	A	G	6: 66,693,747 (GRCm39)	F6L	probably benign	Het
Vmn2r15	T	A	5: 109,434,860 (GRCm39)	K615*	probably null	Het
Wdr18	G	A	10: 79,802,561 (GRCm39)		probably null	Het
Wdr6	A	T	9: 108,453,176 (GRCm39)	W236R	probably damaging	Het
Zbtb48	T	C	4: 152,110,955 (GRCm39)	T187A	probably benign	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
R1024:Rnf146	UTSW	10	29,223,092 (GRCm39)	nonsense	probably null
R1757:Rnf146	UTSW	10	29,223,475 (GRCm39)	missense	probably damaging	0.99
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'- TCCAGCAATTAACATTTCCGTG -3'
(R):5'- TTCTTCTCATAGGATGGCCGG -3'

Sequencing Primer
(F):5'- GACTAGTGCGCTCATCATACTG -3'
(R):5'- CCGGCTGTGGTGAAATTGATC -3'

Posted On

2014-06-23