Mutagenetix > Incidental Mutation

Incidental Mutation 'R9128:Rnf146'

693415

Institutional Source

Beutler Lab

Gene Symbol

Rnf146

Ensembl Gene

ENSMUSG00000038876

Gene Name

ring finger protein 146

Synonyms

2610509H23Rik, Iduna

MMRRC Submission

068927-MU

Accession Numbers

Essential gene?

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

Stock #

R9128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29220172-29238438 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29223539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 116 (W116R)

Ref Sequence

ENSEMBL: ENSMUSP00000124288 (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: W116R

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

SMART Domains

Protein: ENSMUSP00000037224
Gene: ENSMUSG00000038876
AA Change: W116R

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: W116R

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

SMART Domains

Protein: ENSMUSP00000124288
Gene: ENSMUSG00000038876
AA Change: W116R

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: W116R

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

SMART Domains

Protein: ENSMUSP00000124215
Gene: ENSMUSG00000038876
AA Change: W116R

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: W116R

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

SMART Domains

Protein: ENSMUSP00000124814
Gene: ENSMUSG00000038876
AA Change: W116R

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: W116R

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

SMART Domains

Protein: ENSMUSP00000124772
Gene: ENSMUSG00000038876
AA Change: W116R

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: ENSMUST00000214896
AA Change: W116R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,838,352 (GRCm39)	V542A	possibly damaging	Het
Abhd8	G	T	8: 71,914,389 (GRCm39)	R80S	probably benign	Het
Actc1	T	C	2: 113,880,946 (GRCm39)	Y93C	possibly damaging	Het
Actn4	G	T	7: 28,593,929 (GRCm39)	D859E	possibly damaging	Het
Adcy2	C	T	13: 68,773,927 (GRCm39)	G1039R	probably damaging	Het
Als2	A	G	1: 59,219,709 (GRCm39)	M1202T	probably benign	Het
Aste1	T	A	9: 105,273,908 (GRCm39)	Y49*	probably null	Het
Atp8b4	T	C	2: 126,234,750 (GRCm39)	D422G	probably benign	Het
Bag6	T	A	17: 35,363,688 (GRCm39)	S791T	probably damaging	Het
Bivm	T	A	1: 44,167,949 (GRCm39)	W222R	probably null	Het
Bod1l	A	C	5: 41,946,266 (GRCm39)	V3003G	probably benign	Het
Bsn	T	C	9: 107,993,349 (GRCm39)	D801G	probably benign	Het
Ccdc14	G	A	16: 34,527,159 (GRCm39)	D403N	probably damaging	Het
Cenpj	T	A	14: 56,780,319 (GRCm39)	E964V	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Clca3a1	G	A	3: 144,463,795 (GRCm39)	R161W	probably damaging	Het
Dcxr	A	T	11: 120,617,372 (GRCm39)	V57E		Het
Dnah17	T	G	11: 117,937,004 (GRCm39)	N3400T	possibly damaging	Het
Dnaja3	C	T	16: 4,520,164 (GRCm39)	T444I	possibly damaging	Het
Dop1a	T	C	9: 86,395,208 (GRCm39)	S772P	probably benign	Het
Ednrb	T	C	14: 104,080,528 (GRCm39)	N129D	probably damaging	Het
Ep300	T	A	15: 81,533,946 (GRCm39)	M2001K	unknown	Het
Fam3b	A	G	16: 97,302,200 (GRCm39)	I8T	probably benign	Het
Fam98c	A	T	7: 28,854,115 (GRCm39)	S85T		Het
Fat1	G	A	8: 45,462,878 (GRCm39)	V1232I	probably benign	Het
Fzd3	T	A	14: 65,449,626 (GRCm39)	Y484F	probably damaging	Het
H3f3a	T	C	1: 180,630,660 (GRCm39)	I131M	possibly damaging	Het
Ifi206	A	T	1: 173,299,022 (GRCm39)	D861E	unknown	Het
Ihh	T	C	1: 74,985,498 (GRCm39)	Y329C	probably damaging	Het
Jak2	A	G	19: 29,278,462 (GRCm39)	N909D	probably damaging	Het
Krtap12-1	C	A	10: 77,556,623 (GRCm39)	C55*	probably null	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mreg	T	C	1: 72,231,216 (GRCm39)	T81A	probably benign	Het
Muc16	T	C	9: 18,558,878 (GRCm39)	T2472A	unknown	Het
Nanos3	A	T	8: 84,903,080 (GRCm39)	D27E	probably benign	Het
Nox3	T	G	17: 3,720,136 (GRCm39)	S350R	probably damaging	Het
Or4m1	A	G	14: 50,558,214 (GRCm39)	V26A	probably benign	Het
Or8k18	T	A	2: 86,086,022 (GRCm39)	N5I	probably damaging	Het
Pafah2	C	T	4: 134,147,281 (GRCm39)	T310M	probably damaging	Het
Pals1	A	G	12: 78,843,832 (GRCm39)	E12G	probably benign	Het
Pianp	A	G	6: 124,977,658 (GRCm39)	I185V	probably benign	Het
Pja2	T	C	17: 64,616,470 (GRCm39)	T142A	probably benign	Het
Poln	G	A	5: 34,171,658 (GRCm39)	P747L	probably damaging	Het
Pramel25	T	A	4: 143,520,178 (GRCm39)	S141T	probably benign	Het
Rdx	T	A	9: 51,976,179 (GRCm39)	L39*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Sec24d	A	G	3: 123,087,810 (GRCm39)	T224A	probably benign	Het
Serpinb9	T	A	13: 33,190,686 (GRCm39)	I54K	possibly damaging	Het
Slc25a13	A	T	6: 6,109,987 (GRCm39)	L324Q	probably null	Het
Slc9c1	T	C	16: 45,400,490 (GRCm39)	L700P	probably benign	Het
Snta1	T	C	2: 154,222,856 (GRCm39)	K289R	probably benign	Het
Sppl2a	A	G	2: 126,765,393 (GRCm39)	F243S	probably damaging	Het
Syne1	T	C	10: 5,058,556 (GRCm39)	E7319G	probably benign	Het
Taf5l	G	A	8: 124,730,014 (GRCm39)	P225L	probably benign	Het
Tet2	A	T	3: 133,175,374 (GRCm39)	N1324K	possibly damaging	Het
Usp5	A	T	6: 124,800,414 (GRCm39)		probably null	Het
Vmn2r124	G	T	17: 18,294,439 (GRCm39)	R842L	probably benign	Het
Vps16	A	G	2: 130,266,319 (GRCm39)	D2G	possibly damaging	Het
Vwf	T	C	6: 125,619,693 (GRCm39)	L1457P		Het
Xpo1	A	G	11: 23,235,058 (GRCm39)	T576A	probably damaging	Het
Zdhhc6	A	T	19: 55,301,680 (GRCm39)	Y100*	probably null	Het
Zfp534	T	A	4: 147,760,082 (GRCm39)	R196*	probably null	Het
Zfp710	C	T	7: 79,731,122 (GRCm39)	R100W	probably damaging	Het
Zfp750	T	C	11: 121,404,674 (GRCm39)	K67R	probably benign	Het
Zmynd10	T	C	9: 107,426,326 (GRCm39)	S158P		Het
Zmynd8	A	T	2: 165,700,058 (GRCm39)	M1K	probably null	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
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
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'- AGCCTAAGTCCAGCTACTCC -3'
(R):5'- CAGTCTGCCCTGTAAGCATG -3'

Sequencing Primer
(F):5'- AAGTCCAGCTACTCCCTTCTTTGG -3'
(R):5'- GCCCTGTAAGCATGTTTTCTG -3'

Posted On

2022-01-20