Mutagenetix > Incidental Mutation

Incidental Mutation 'R8520:Rnf148'

658585

Institutional Source

Beutler Lab

Gene Symbol

Rnf148

Ensembl Gene

ENSMUSG00000078179

Gene Name

ring finger protein 148

Synonyms

Greul3, 4933432M07Rik

MMRRC Submission

067947-MU

Accession Numbers

Essential gene?

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

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23653898-23655136 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23654170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 276 (Y276H)

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 damaging
Transcript: ENSMUST00000104979
AA Change: Y276H

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

SMART Domains

Protein: ENSMUSP00000100592
Gene: ENSMUSG00000078179
AA Change: Y276H

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,690,609	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,646,706	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,685,346	I151T	possibly damaging	Het
Adam28	C	T	14: 68,642,083	G172D	probably damaging	Het
Adcy6	A	G	15: 98,604,160	V191A	probably benign	Het
Ankrd52	T	C	10: 128,389,490	L911P	probably damaging	Het
C5ar1	A	G	7: 16,248,151	S315P	probably damaging	Het
Cubn	A	G	2: 13,308,520		probably null	Het
Dlec1	T	C	9: 119,112,209	S276P	probably benign	Het
Dnah14	T	A	1: 181,653,638	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,579,451	G171R	probably damaging	Het
Dusp13	C	A	14: 21,743,470	G208*	probably null	Het
Ebf3	A	C	7: 137,201,124		probably null	Het
Fbn2	A	T	18: 58,038,198		probably null	Het
Fbxo27	A	G	7: 28,693,342	D16G	probably benign	Het
G6pc3	A	G	11: 102,193,108	S187G	probably benign	Het
Gucy2d	G	A	7: 98,472,306	V995I	probably null	Het
Hmcn2	C	A	2: 31,354,714	P728T	probably damaging	Het
Il1r2	T	C	1: 40,105,339	L62P	probably damaging	Het
Ints7	T	C	1: 191,582,491	S63P	probably damaging	Het
Mcf2l	C	A	8: 12,880,089	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,991,363	I109S	probably benign	Het
Mier2	G	A	10: 79,542,429	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,183,734		probably null	Het
Nanog	A	T	6: 122,713,516	L268F	possibly damaging	Het
Olfr305	A	T	7: 86,364,263	C25S	probably benign	Het
Olfr536	T	A	7: 140,504,402	D19V	probably benign	Het
Otud4	T	A	8: 79,659,267	N256K	probably damaging	Het
P2rx1	A	T	11: 73,008,953	D128V	probably benign	Het
Pappa	G	A	4: 65,335,764	V1552I	probably benign	Het
Pax8	A	T	2: 24,443,022	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,174,755	S396C	probably damaging	Het
Sec11c	A	T	18: 65,814,840	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,523,180	N217K	probably benign	Het
Slc2a13	T	A	15: 91,572,902	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,549,862	M9T	probably benign	Het
Sord	G	A	2: 122,256,942	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,754,284	Q892*	probably null	Het
Thsd7b	T	A	1: 129,921,420	D956E	probably benign	Het
Tmem251	T	A	12: 102,744,172		probably null	Het
Topbp1	T	A	9: 103,308,977		probably null	Het
Tst	T	C	15: 78,405,253	E194G	probably damaging	Het
Ttk	T	A	9: 83,857,327	S484T	possibly damaging	Het
U2surp	A	G	9: 95,502,554	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,240,855	A500T	probably benign	Het
Utrn	A	T	10: 12,670,186	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,741,656	Q656L	probably damaging	Het
Wdr7	A	G	18: 63,987,160	N1424S	probably benign	Het
Xkr9	A	G	1: 13,701,379	D373G	probably benign	Het
Zfp984	T	A	4: 147,756,211	Y61F	probably benign	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
R4933:Rnf148	UTSW	6	23654340	missense	probably benign	0.02
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
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'- CTTCACTGGCAGGATAGAGG -3'
(R):5'- TCCTATACTGTGCCTGGAGACC -3'

Sequencing Primer
(F):5'- CTTTGGATGTACAGCACAGTGAGC -3'
(R):5'- GAGACCCCGAGTGTCCAATTC -3'

Posted On

2021-01-18