Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Rffl'

73073

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rffl

Ensembl Gene

ENSMUSG00000020696

Gene Name

ring finger and FYVE like domain containing protein

Synonyms

fring, 4930516L10Rik, Carp2, rififylin, 1700051E09Rik, Carp-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

82694645-82762065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82709283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 47 (C47S)

Ref Sequence

ENSEMBL: ENSMUSP00000103808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021036] [ENSMUST00000071152] [ENSMUST00000074515] [ENSMUST00000093975] [ENSMUST00000103218] [ENSMUST00000108173] [ENSMUST00000126660]

AlphaFold

Q6ZQM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021036
AA Change: C47S

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

SMART Domains

Protein: ENSMUSP00000021036
Gene: ENSMUSG00000020696
AA Change: C47S

Domain	Start	End	E-Value	Type
PDB:1Y02\|A	27	145	3e-75	PDB
Blast:RING	47	88	2e-19	BLAST
low complexity region	163	175	N/A	INTRINSIC
RING	288	322	3.47e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071152
AA Change: C82S

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071150
Gene: ENSMUSG00000020696
AA Change: C82S

Domain	Start	End	E-Value	Type
PDB:1Y02\|A	62	180	1e-74	PDB
Blast:RING	82	123	2e-19	BLAST
low complexity region	198	210	N/A	INTRINSIC
RING	351	385	3.47e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000074515
AA Change: C47S

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

SMART Domains

Protein: ENSMUSP00000074108
Gene: ENSMUSG00000020696
AA Change: C47S

Domain	Start	End	E-Value	Type
PDB:1Y02\|A	27	145	4e-75	PDB
Blast:RING	47	88	2e-19	BLAST
low complexity region	163	175	N/A	INTRINSIC
RING	316	350	3.47e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000093975
AA Change: C61S

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

SMART Domains

Protein: ENSMUSP00000091510
Gene: ENSMUSG00000020696
AA Change: C61S

Domain	Start	End	E-Value	Type
PDB:1Y02\|A	41	159	6e-75	PDB
Blast:RING	61	102	2e-19	BLAST
low complexity region	177	189	N/A	INTRINSIC
RING	330	364	3.47e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103218
AA Change: C47S

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

SMART Domains

Protein: ENSMUSP00000099507
Gene: ENSMUSG00000020696
AA Change: C47S

Domain	Start	End	E-Value	Type
PDB:1Y02\|A	27	145	1e-76	PDB
SCOP:d1vfya_	46	86	9e-5	SMART
Blast:RING	47	88	4e-20	BLAST
low complexity region	163	175	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108173
AA Change: C47S

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

SMART Domains

Protein: ENSMUSP00000103808
Gene: ENSMUSG00000020696
AA Change: C47S

Domain	Start	End	E-Value	Type
PDB:1Y02\|A	27	145	4e-75	PDB
Blast:RING	47	88	2e-19	BLAST
low complexity region	163	175	N/A	INTRINSIC
RING	316	350	3.47e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000126660
AA Change: C82S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115846
Gene: ENSMUSG00000020696
AA Change: C82S

Domain	Start	End	E-Value	Type
PDB:1Y02\|A	62	142	9e-50	PDB
SCOP:d1vfya_	81	121	1e-3	SMART
Blast:RING	82	123	7e-21	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an inactivating targeted mutation of this gene are born at the expected Mendelian frequency; they are viable and fertile and exhibit no apparent abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Atn1	T	C	6: 124,726,239 (GRCm39)	E80G	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dph1	A	G	11: 75,071,775 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fbxl4	C	A	4: 22,427,348 (GRCm39)	R530S	probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Klhl25	T	A	7: 75,515,620 (GRCm39)	H175Q	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nfatc4	T	C	14: 56,069,962 (GRCm39)	V710A	probably benign	Het
Optn	G	A	2: 5,037,967 (GRCm39)	T409I	possibly damaging	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,574,473 (GRCm39)	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,346,746 (GRCm39)		probably benign	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Ptprk	G	A	10: 28,351,174 (GRCm39)	V556I	probably benign	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	Het

Other mutations in Rffl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Rffl	APN	11	82,709,310 (GRCm39)	missense	probably damaging	1.00
IGL01120:Rffl	APN	11	82,696,848 (GRCm39)	missense	probably damaging	1.00
IGL01635:Rffl	APN	11	82,703,378 (GRCm39)	missense	probably benign	0.00
R0127:Rffl	UTSW	11	82,703,458 (GRCm39)	missense	probably damaging	1.00
R0195:Rffl	UTSW	11	82,700,989 (GRCm39)	missense	probably damaging	1.00
R2125:Rffl	UTSW	11	82,709,264 (GRCm39)	missense	probably damaging	0.99
R5030:Rffl	UTSW	11	82,703,543 (GRCm39)	nonsense	probably null
R5104:Rffl	UTSW	11	82,703,619 (GRCm39)	nonsense	probably null
R5283:Rffl	UTSW	11	82,703,615 (GRCm39)	missense	probably damaging	1.00
R5483:Rffl	UTSW	11	82,703,549 (GRCm39)	splice site	probably null
R5828:Rffl	UTSW	11	82,709,244 (GRCm39)	missense	probably damaging	1.00
R5974:Rffl	UTSW	11	82,696,977 (GRCm39)	missense	probably damaging	1.00
R6651:Rffl	UTSW	11	82,703,605 (GRCm39)	missense	probably damaging	1.00
R6951:Rffl	UTSW	11	82,736,576 (GRCm39)	critical splice donor site	probably null
R7053:Rffl	UTSW	11	82,703,497 (GRCm39)	missense	probably null	1.00
R7587:Rffl	UTSW	11	82,700,974 (GRCm39)	missense	probably damaging	1.00
R7782:Rffl	UTSW	11	82,703,595 (GRCm39)	nonsense	probably null
R8192:Rffl	UTSW	11	82,703,549 (GRCm39)	splice site	probably null
R8243:Rffl	UTSW	11	82,703,621 (GRCm39)	missense	probably damaging	1.00
R8809:Rffl	UTSW	11	82,700,864 (GRCm39)	missense	probably damaging	1.00
R9044:Rffl	UTSW	11	82,701,020 (GRCm39)	missense	probably benign	0.01
R9217:Rffl	UTSW	11	82,703,633 (GRCm39)	missense	possibly damaging	0.46
R9569:Rffl	UTSW	11	82,703,264 (GRCm39)	missense	probably benign	0.04
RF009:Rffl	UTSW	11	82,736,598 (GRCm39)	missense	probably benign	0.00

Posted On

2013-10-07