Mutagenetix > Incidental Mutation

Incidental Mutation 'R8868:Rnf148'

676079

Institutional Source

Beutler Lab

Gene Symbol

Rnf148

Ensembl Gene

ENSMUSG00000078179

Gene Name

ring finger protein 148

Synonyms

4933432M07Rik, Greul3

MMRRC Submission

068683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8868 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23653897-23655135 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23654540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 152 (V152E)

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: V152E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100592
Gene: ENSMUSG00000078179
AA Change: V152E

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	T	A	9: 26,890,544 (GRCm39)	N255Y	probably damaging	Het
Accsl	A	C	2: 93,696,490 (GRCm39)	L36R	probably benign	Het
Acvr2a	T	A	2: 48,763,469 (GRCm39)	V171E	probably benign	Het
Adgrl3	A	G	5: 81,794,451 (GRCm39)	I491V	probably benign	Het
Ak9	G	A	10: 41,193,842 (GRCm39)		probably null	Het
Ak9	G	T	10: 41,258,869 (GRCm39)	E789*	probably null	Het
Akr1c19	T	A	13: 4,293,070 (GRCm39)	N275K	probably benign	Het
Alg1	A	G	16: 5,061,557 (GRCm39)	H398R	probably benign	Het
Apol11a	T	A	15: 77,401,209 (GRCm39)	I232N	probably damaging	Het
Cacnb2	A	G	2: 14,989,080 (GRCm39)	I437V	probably benign	Het
Catsper4	A	G	4: 133,954,417 (GRCm39)		probably null	Het
Cdhr17	G	A	5: 17,028,152 (GRCm39)	G449D	probably benign	Het
Crnn	T	C	3: 93,055,609 (GRCm39)	C132R	probably benign	Het
Cyp4a14	T	A	4: 115,348,553 (GRCm39)	H337L	probably damaging	Het
Dcdc2a	C	T	13: 25,386,266 (GRCm39)	A380V	probably benign	Het
Dclre1b	T	C	3: 103,710,654 (GRCm39)	N419S	probably benign	Het
Dip2c	A	G	13: 9,625,503 (GRCm39)	D621G	possibly damaging	Het
Dmwd	T	A	7: 18,814,694 (GRCm39)	L448Q	probably damaging	Het
Dnajc13	G	A	9: 104,042,987 (GRCm39)	H1922Y	probably benign	Het
E2f3	A	T	13: 30,095,301 (GRCm39)	I329N	probably damaging	Het
Eml2	G	A	7: 18,927,988 (GRCm39)	V266M	probably benign	Het
Entpd2	A	G	2: 25,289,725 (GRCm39)	T376A	probably benign	Het
Flnb	A	G	14: 7,908,671 (GRCm38)	T1350A	probably benign	Het
Fmnl2	A	G	2: 53,016,077 (GRCm39)	E999G	unknown	Het
Hivep1	A	G	13: 42,312,407 (GRCm39)	Q1549R	possibly damaging	Het
Hps6	G	A	19: 45,992,446 (GRCm39)	V128M	possibly damaging	Het
Ifi27l2a	T	C	12: 103,402,899 (GRCm39)	S66P	possibly damaging	Het
Ikbip	T	C	10: 90,932,187 (GRCm39)	V277A	possibly damaging	Het
Ints8	T	C	4: 11,230,488 (GRCm39)	E451G	probably benign	Het
Itih2	A	T	2: 10,132,600 (GRCm39)	S64T	probably benign	Het
Kcnc4	T	A	3: 107,355,452 (GRCm39)	E332V	probably damaging	Het
Krt23	T	C	11: 99,374,567 (GRCm39)		probably benign	Het
Lrpprc	C	A	17: 85,078,920 (GRCm39)	G265C	probably damaging	Het
Nav1	G	T	1: 135,512,943 (GRCm39)	A39E	probably benign	Het
Ogfod1	G	T	8: 94,773,906 (GRCm39)	D103Y	probably damaging	Het
Or7g20	T	G	9: 18,946,778 (GRCm39)	Y120D	probably damaging	Het
Or8b55	G	A	9: 38,727,285 (GRCm39)	C162Y	probably damaging	Het
Or8g37	A	G	9: 39,731,252 (GRCm39)	T106A	probably benign	Het
Ppp1r3a	A	T	6: 14,755,014 (GRCm39)	S78T	probably damaging	Het
Sdf2	A	T	11: 78,136,970 (GRCm39)	H50L	probably damaging	Het
Sec1	T	A	7: 45,328,700 (GRCm39)	M116L	probably benign	Het
Sema6d	T	C	2: 124,496,114 (GRCm39)	S53P	probably damaging	Het
Siae	A	G	9: 37,528,132 (GRCm39)	Y35C	probably damaging	Het
Slc18b1	A	T	10: 23,686,751 (GRCm39)	Y189F	probably damaging	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Spef2	T	C	15: 9,729,747 (GRCm39)	T124A	possibly damaging	Het
Strn4	G	A	7: 16,560,570 (GRCm39)	E241K	probably benign	Het
Svep1	A	G	4: 58,135,578 (GRCm39)	I510T	possibly damaging	Het
Svop	T	C	5: 114,170,854 (GRCm39)	D395G	probably damaging	Het
Tbc1d14	A	C	5: 36,728,888 (GRCm39)	S159R	probably damaging	Het
Tex50	T	A	1: 160,984,848 (GRCm39)	I131F	possibly damaging	Het
Tssk1	A	G	16: 17,712,884 (GRCm39)	K223R	probably benign	Het
Ttc3	A	G	16: 94,252,002 (GRCm39)	I1565V	probably benign	Het
Ttn	A	T	2: 76,541,938 (GRCm39)	F33683I	possibly damaging	Het
Ttn	T	C	2: 76,783,470 (GRCm39)	M887V	unknown	Het
Usp45	G	A	4: 21,815,399 (GRCm39)		probably null	Het
Wdr47	C	T	3: 108,498,841 (GRCm39)		probably benign	Het
Xirp1	A	G	9: 119,846,871 (GRCm39)	S671P	probably benign	Het
Zbtb18	A	G	1: 177,274,682 (GRCm39)	D5G	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp260	T	G	7: 29,804,914 (GRCm39)	Y271*	probably null	Het
Zfp369	T	A	13: 65,445,082 (GRCm39)	S742T	possibly damaging	Het
Zfp786	A	T	6: 47,802,015 (GRCm39)	D87E	probably damaging	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
R8825:Rnf148	UTSW	6	23,654,378 (GRCm39)	missense	probably benign	0.25
R8826:Rnf148	UTSW	6	23,654,378 (GRCm39)	missense	probably benign	0.25
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'- AAGAATTGGACACTCGGGGTC -3'
(R):5'- AGAATGCTTGCAGTCCGCTG -3'

Sequencing Primer
(F):5'- GGTCTCCAGGCACAGTATAGG -3'
(R):5'- TTGCAGTCCGCTGACCAAC -3'

Posted On

2021-07-15