Mutagenetix > Incidental Mutation

Incidental Mutation 'R8825:Rnf148'

673380

Institutional Source

Beutler Lab

Gene Symbol

Rnf148

Ensembl Gene

ENSMUSG00000078179

Gene Name

ring finger protein 148

Synonyms

4933432M07Rik, Greul3

MMRRC Submission

068728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8825 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23653897-23655135 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 23654378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 206 (S206C)

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: S206C

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100592
Gene: ENSMUSG00000078179
AA Change: S206C

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap2	T	A	2: 91,103,906 (GRCm39)	L334Q	probably damaging	Het
Arhgef18	T	A	8: 3,436,951 (GRCm39)	L247Q	probably damaging	Het
Birc6	T	A	17: 74,920,500 (GRCm39)	C2100S	probably damaging	Het
Bpi	A	G	2: 158,109,670 (GRCm39)	D206G	probably benign	Het
C6	T	C	15: 4,761,170 (GRCm39)	I10T	possibly damaging	Het
Cactin	A	G	10: 81,161,492 (GRCm39)	T675A	probably damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Cdkal1	C	T	13: 29,538,777 (GRCm39)	V461I	probably benign	Het
Ces2g	C	T	8: 105,693,954 (GRCm39)	S430F	probably benign	Het
Clcn3	A	T	8: 61,382,522 (GRCm39)	H382Q	probably damaging	Het
Crem	A	T	18: 3,268,061 (GRCm39)	V89E	probably damaging	Het
Crtc2	T	A	3: 90,166,463 (GRCm39)	M146K	probably benign	Het
Depdc1b	T	G	13: 108,521,316 (GRCm39)	D374E	possibly damaging	Het
Dgkg	T	A	16: 22,381,519 (GRCm39)	H477L	probably benign	Het
Dnhd1	T	A	7: 105,343,174 (GRCm39)	V1506D	possibly damaging	Het
Erfl	A	G	7: 24,628,682 (GRCm39)	V60A	possibly damaging	Het
Exosc10	G	A	4: 148,653,159 (GRCm39)		probably null	Het
Fem1al	T	C	11: 29,773,696 (GRCm39)	E587G	probably benign	Het
Flnb	G	T	14: 7,887,566 (GRCm38)	G459C	probably damaging	Het
Golgb1	A	G	16: 36,739,809 (GRCm39)	D2757G	probably benign	Het
Gsta4	T	G	9: 78,116,121 (GRCm39)		probably benign	Het
Herc2	T	A	7: 55,700,626 (GRCm39)	M1K	probably null	Het
Hip1	C	T	5: 135,450,976 (GRCm39)	V879M	probably damaging	Het
Htt	T	C	5: 34,983,304 (GRCm39)	Y968H	probably benign	Het
Ints11	T	A	4: 155,969,587 (GRCm39)	Y154*	probably null	Het
Itih5	A	G	2: 10,195,231 (GRCm39)	S208G	probably benign	Het
Lamb2	C	T	9: 108,362,460 (GRCm39)	T701I	probably benign	Het
Lgals3	T	A	14: 47,617,557 (GRCm39)	Y22*	probably null	Het
Macc1	T	A	12: 119,409,587 (GRCm39)	D118E	probably benign	Het
Mad2l2	T	C	4: 148,225,277 (GRCm39)	L9P	probably damaging	Het
Mark2	T	C	19: 7,318,571 (GRCm39)	T6A	probably benign	Het
Mcat	T	C	15: 83,436,812 (GRCm39)	N143S	probably benign	Het
Med10	T	G	13: 69,962,046 (GRCm39)	C144G	unknown	Het
Miga1	A	T	3: 151,982,460 (GRCm39)	F539I	probably damaging	Het
Mon2	A	T	10: 122,849,776 (GRCm39)	S1174T	probably benign	Het
Mycbp2	C	A	14: 103,466,871 (GRCm39)	W1330C	probably damaging	Het
Myo5b	T	C	18: 74,892,169 (GRCm39)	S1612P	possibly damaging	Het
Nipal4	T	C	11: 46,052,873 (GRCm39)	I31V	probably benign	Het
Obox3	A	T	7: 15,361,226 (GRCm39)	V13E	possibly damaging	Het
Or2ag19	A	T	7: 106,444,636 (GRCm39)	I273F	probably damaging	Het
Or8g4	T	C	9: 39,661,994 (GRCm39)	F104S	probably damaging	Het
Ppic	A	G	18: 53,542,222 (GRCm39)	V162A	probably damaging	Het
Prkg2	T	C	5: 99,090,043 (GRCm39)	K699R	probably benign	Het
Prl2c2	T	A	13: 13,179,656 (GRCm39)	L6F	possibly damaging	Het
Sec16a	A	G	2: 26,313,586 (GRCm39)	S474P		Het
Sema5a	T	G	15: 32,689,498 (GRCm39)	H1054Q	probably benign	Het
Slc6a18	C	A	13: 73,813,751 (GRCm39)	V521F	probably null	Het
Stat2	T	A	10: 128,127,233 (GRCm39)	D921E	possibly damaging	Het
Tcf24	G	T	1: 10,031,224 (GRCm39)	N42K	unknown	Het
Tgfb2	T	A	1: 186,361,136 (GRCm39)	N372Y	probably damaging	Het
Tktl2	A	C	8: 66,966,319 (GRCm39)	M626L	possibly damaging	Het
Tmem94	A	G	11: 115,688,201 (GRCm39)	D1220G	probably benign	Het
Trcg1	A	G	9: 57,148,754 (GRCm39)	T109A	probably benign	Het
Trim30a	T	A	7: 104,060,529 (GRCm39)	K416*	probably null	Het
Trpm5	T	C	7: 142,636,753 (GRCm39)	K395E	possibly damaging	Het
Ufm1	T	A	3: 53,771,093 (GRCm39)		probably null	Het
Unc13b	T	A	4: 43,237,683 (GRCm39)		probably benign	Het
Vmn2r16	T	C	5: 109,487,019 (GRCm39)	V80A	probably benign	Het
Vmn2r77	A	T	7: 86,452,855 (GRCm39)	Y524F	probably benign	Het
Zfp1007	T	G	5: 109,826,746 (GRCm39)	T5P	probably damaging	Het
Zfp64	T	C	2: 168,793,552 (GRCm39)	S65G	probably benign	Het
Zng1	A	G	19: 24,926,601 (GRCm39)	V150A	probably benign	Het

Other mutations in Rnf148

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01727:Rnf148	APN	6	23,655,001 (GRCm39)	intron	probably benign
IGL02307:Rnf148	APN	6	23,654,890 (GRCm39)	missense	probably benign	0.34
IGL02347:Rnf148	APN	6	23,654,729 (GRCm39)	missense	probably benign	0.01
IGL02366:Rnf148	APN	6	23,654,058 (GRCm39)	missense	probably benign	0.12
IGL02598:Rnf148	APN	6	23,654,456 (GRCm39)	missense	probably damaging	1.00
R0427:Rnf148	UTSW	6	23,654,072 (GRCm39)	missense	probably damaging	0.99
R0458:Rnf148	UTSW	6	23,654,256 (GRCm39)	missense	probably benign	0.37
R0465:Rnf148	UTSW	6	23,654,684 (GRCm39)	missense	probably benign	0.02
R0514:Rnf148	UTSW	6	23,654,792 (GRCm39)	missense	possibly damaging	0.95
R0538:Rnf148	UTSW	6	23,654,237 (GRCm39)	missense	probably damaging	1.00
R0658:Rnf148	UTSW	6	23,654,456 (GRCm39)	missense	probably damaging	1.00
R1831:Rnf148	UTSW	6	23,654,772 (GRCm39)	missense	probably damaging	1.00
R2238:Rnf148	UTSW	6	23,654,345 (GRCm39)	missense	probably benign	0.41
R3741:Rnf148	UTSW	6	23,654,064 (GRCm39)	missense	possibly damaging	0.78
R4933:Rnf148	UTSW	6	23,654,339 (GRCm39)	missense	probably benign	0.02
R5188:Rnf148	UTSW	6	23,654,139 (GRCm39)	missense	probably damaging	1.00
R6386:Rnf148	UTSW	6	23,654,483 (GRCm39)	missense	probably damaging	1.00
R7231:Rnf148	UTSW	6	23,654,890 (GRCm39)	missense	probably benign	0.34
R7526:Rnf148	UTSW	6	23,654,283 (GRCm39)	nonsense	probably null
R7613:Rnf148	UTSW	6	23,654,979 (GRCm39)	missense	probably benign	0.01
R8025:Rnf148	UTSW	6	23,654,196 (GRCm39)	missense	possibly damaging	0.55
R8463:Rnf148	UTSW	6	23,654,801 (GRCm39)	missense	probably benign	0.01
R8520:Rnf148	UTSW	6	23,654,169 (GRCm39)	missense	probably damaging	1.00
R8545:Rnf148	UTSW	6	23,654,570 (GRCm39)	missense	probably damaging	1.00
R8791:Rnf148	UTSW	6	23,654,993 (GRCm39)	start codon destroyed	probably null	0.02
R8826:Rnf148	UTSW	6	23,654,378 (GRCm39)	missense	probably benign	0.25
R8868:Rnf148	UTSW	6	23,654,540 (GRCm39)	missense	probably damaging	0.98
R8931:Rnf148	UTSW	6	23,654,704 (GRCm39)	missense	possibly damaging	0.82
R9710:Rnf148	UTSW	6	23,654,802 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CAAACCACGCAGCTGTCTTC -3'
(R):5'- CGGGGTGATCATCTATAACTATCC -3'

Sequencing Primer
(F):5'- ACGCAGCTGTCTTCATTCGG -3'
(R):5'- TCTATAACTATCCGGGTACAGGC -3'

Posted On

2021-07-15