Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Rnf148'

380711

Institutional Source

Beutler Lab

Gene Symbol

Rnf148

Ensembl Gene

ENSMUSG00000078179

Gene Name

ring finger protein 148

Synonyms

Greul3, 4933432M07Rik

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23653898-23655136 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23654340 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 219 (F219S)

Ref Sequence

ENSEMBL: ENSMUSP00000100592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018122] [ENSMUST00000063548] [ENSMUST00000069074] [ENSMUST00000104979] [ENSMUST00000115354] [ENSMUST00000115356] [ENSMUST00000115358] [ENSMUST00000115361] [ENSMUST00000142913] [ENSMUST00000163871] [ENSMUST00000166458]

AlphaFold

G3X9R7

Predicted Effect

probably benign
Transcript: ENSMUST00000018122

SMART Domains

Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	902	1.14e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000063548

SMART Domains

Protein: ENSMUSP00000066906
Gene: ENSMUSG00000051956

Domain	Start	End	E-Value	Type
Pfam:PA	94	162	3.6e-11	PFAM
RING	213	253	6.43e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069074

SMART Domains

Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	895	5.54e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000104979
AA Change: F219S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000100592
Gene: ENSMUSG00000078179
AA Change: F219S

Domain	Start	End	E-Value	Type
low complexity region	25	43	N/A	INTRINSIC
Pfam:PA	82	178	1e-13	PFAM
RING	269	309	1.82e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115354

SMART Domains

Protein: ENSMUSP00000111011
Gene: ENSMUSG00000051956

Domain	Start	End	E-Value	Type
Pfam:PA	70	165	1.9e-13	PFAM
RING	256	296	6.43e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115356

SMART Domains

Protein: ENSMUSP00000111013
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115358

SMART Domains

Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	902	1.14e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115361

SMART Domains

Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	892	1.9e-49	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136279

Predicted Effect

probably benign
Transcript: ENSMUST00000142913

SMART Domains

Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	22	39	N/A	INTRINSIC
low complexity region	85	97	N/A	INTRINSIC
coiled coil region	236	256	N/A	INTRINSIC
C2	340	438	1.51e-1	SMART
PH	463	567	2.94e-11	SMART
DUF1041	772	873	1.14e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163871

SMART Domains

Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	902	7.2e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166458

SMART Domains

Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	85	97	N/A	INTRINSIC
coiled coil region	236	256	N/A	INTRINSIC
C2	340	438	1.51e-1	SMART
PH	463	567	2.94e-11	SMART
DUF1041	772	873	1.05e-51	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably damaging	Het

Other mutations in Rnf148

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01727:Rnf148	APN	6	23655002	intron	probably benign
IGL02307:Rnf148	APN	6	23654891	missense	probably benign	0.34
IGL02347:Rnf148	APN	6	23654730	missense	probably benign	0.01
IGL02366:Rnf148	APN	6	23654059	missense	probably benign	0.12
IGL02598:Rnf148	APN	6	23654457	missense	probably damaging	1.00
R0427:Rnf148	UTSW	6	23654073	missense	probably damaging	0.99
R0458:Rnf148	UTSW	6	23654257	missense	probably benign	0.37
R0465:Rnf148	UTSW	6	23654685	missense	probably benign	0.02
R0514:Rnf148	UTSW	6	23654793	missense	possibly damaging	0.95
R0538:Rnf148	UTSW	6	23654238	missense	probably damaging	1.00
R0658:Rnf148	UTSW	6	23654457	missense	probably damaging	1.00
R1831:Rnf148	UTSW	6	23654773	missense	probably damaging	1.00
R2238:Rnf148	UTSW	6	23654346	missense	probably benign	0.41
R3741:Rnf148	UTSW	6	23654065	missense	possibly damaging	0.78
R5188:Rnf148	UTSW	6	23654140	missense	probably damaging	1.00
R6386:Rnf148	UTSW	6	23654484	missense	probably damaging	1.00
R7231:Rnf148	UTSW	6	23654891	missense	probably benign	0.34
R7526:Rnf148	UTSW	6	23654284	nonsense	probably null
R7613:Rnf148	UTSW	6	23654980	missense	probably benign	0.01
R8025:Rnf148	UTSW	6	23654197	missense	possibly damaging	0.55
R8463:Rnf148	UTSW	6	23654802	missense	probably benign	0.01
R8520:Rnf148	UTSW	6	23654170	missense	probably damaging	1.00
R8545:Rnf148	UTSW	6	23654571	missense	probably damaging	1.00
R8791:Rnf148	UTSW	6	23654994	start codon destroyed	probably null	0.02
R8825:Rnf148	UTSW	6	23654379	missense	probably benign	0.25
R8826:Rnf148	UTSW	6	23654379	missense	probably benign	0.25
R8868:Rnf148	UTSW	6	23654541	missense	probably damaging	0.98
R8931:Rnf148	UTSW	6	23654705	missense	possibly damaging	0.82
R9710:Rnf148	UTSW	6	23654803	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CATCTTGGGCTTTGTACATGTC -3'
(R):5'- ACAGGCAACAAGGTGTTTCC -3'

Sequencing Primer
(F):5'- GGGCTTTGTACATGTCAAAACAAACC -3'
(R):5'- GGCAACAAGGTGTTTCCCATGTC -3'

Posted On

2016-04-15