Mutagenetix > Incidental Mutation

Incidental Mutation 'R8809:Rffl'

672293

Institutional Source

Beutler Lab

Gene Symbol

Rffl

Ensembl Gene

ENSMUSG00000020696

Gene Name

ring finger and FYVE like domain containing protein

Synonyms

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

MMRRC Submission

068645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82694645-82762065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82700864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 321 (Y321H)

Ref Sequence

ENSEMBL: ENSMUSP00000071150 (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: Y258H

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

SMART Domains

Protein: ENSMUSP00000021036
Gene: ENSMUSG00000020696
AA Change: Y258H

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

probably damaging
Transcript: ENSMUST00000071152
AA Change: Y321H

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

SMART Domains

Protein: ENSMUSP00000071150
Gene: ENSMUSG00000020696
AA Change: Y321H

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: Y286H

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

SMART Domains

Protein: ENSMUSP00000074108
Gene: ENSMUSG00000020696
AA Change: Y286H

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: Y300H

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

SMART Domains

Protein: ENSMUSP00000091510
Gene: ENSMUSG00000020696
AA Change: Y300H

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: Y258H

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

SMART Domains

Protein: ENSMUSP00000099507
Gene: ENSMUSG00000020696
AA Change: Y258H

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: Y286H

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

SMART Domains

Protein: ENSMUSP00000103808
Gene: ENSMUSG00000020696
AA Change: Y286H

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 benign
Transcript: ENSMUST00000126660

SMART Domains

Protein: ENSMUSP00000115846
Gene: ENSMUSG00000020696

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

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
Actr6	C	T	10: 89,550,841 (GRCm39)	V318I	probably benign	Het
Adam29	A	G	8: 56,325,659 (GRCm39)	I265T	probably benign	Het
Ankdd1a	A	T	9: 65,415,422 (GRCm39)		probably benign	Het
Arcn1	T	C	9: 44,655,259 (GRCm39)	T501A	possibly damaging	Het
B3gntl1	A	T	11: 121,521,690 (GRCm39)	F166I	possibly damaging	Het
Brap	T	C	5: 121,822,524 (GRCm39)	S467P	possibly damaging	Het
Cenpb	A	G	2: 131,020,322 (GRCm39)	V492A	unknown	Het
Ces1b	C	A	8: 93,786,948 (GRCm39)	G477V	probably damaging	Het
Ces1b	C	T	8: 93,786,949 (GRCm39)	G477R	probably damaging	Het
Cfap65	T	C	1: 74,942,382 (GRCm39)	K1724R	probably benign	Het
Chrd	A	T	16: 20,553,270 (GRCm39)	Q182L	probably benign	Het
Chrnb2	T	C	3: 89,664,457 (GRCm39)	T486A	probably benign	Het
Col25a1	A	T	3: 130,354,466 (GRCm39)		probably null	Het
Col4a1	A	G	8: 11,295,916 (GRCm39)	Y101H	unknown	Het
Crybg1	T	C	10: 43,879,428 (GRCm39)	T587A	probably damaging	Het
Ctnnal1	T	A	4: 56,835,374 (GRCm39)	N301I	possibly damaging	Het
Cyp2f2	A	T	7: 26,831,995 (GRCm39)	N417Y	probably damaging	Het
Dnah6	T	A	6: 73,009,546 (GRCm39)	E3800D	possibly damaging	Het
Dync2i1	A	G	12: 116,193,234 (GRCm39)	S573P	probably damaging	Het
Ehmt2	C	A	17: 35,127,489 (GRCm39)	T906K	probably damaging	Het
Fbxo15	A	G	18: 84,978,200 (GRCm39)	H183R	possibly damaging	Het
Fgl1	T	A	8: 41,650,368 (GRCm39)	K194*	probably null	Het
Fxr1	G	A	3: 34,108,430 (GRCm39)	V314I	possibly damaging	Het
Hrnr	A	G	3: 93,239,443 (GRCm39)	Q3227R	unknown	Het
Ier5	G	A	1: 154,974,716 (GRCm39)	A154V	probably benign	Het
Igkc	T	G	6: 70,703,502 (GRCm39)	L28V		Het
Kcnh1	G	A	1: 191,903,722 (GRCm39)	G54D	probably damaging	Het
Kcnn1	C	T	8: 71,305,297 (GRCm39)		probably null	Het
Kifbp	C	T	10: 62,395,491 (GRCm39)	D384N	possibly damaging	Het
Klra2	T	A	6: 131,197,198 (GRCm39)	N234I	possibly damaging	Het
Krtap4-9	T	C	11: 99,676,454 (GRCm39)	I125T	unknown	Het
Lrig2	T	C	3: 104,368,993 (GRCm39)	T897A	probably benign	Het
Lyve1	G	T	7: 110,452,999 (GRCm39)	T199K	probably damaging	Het
Myorg	T	C	4: 41,498,812 (GRCm39)	T273A	probably benign	Het
Napa	A	G	7: 15,846,551 (GRCm39)	D113G	possibly damaging	Het
Neurog1	GGTG	GGTGTG	13: 56,399,098 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,437,964 (GRCm39)	H91Q	probably damaging	Het
Or4c11c	T	C	2: 88,662,256 (GRCm39)	M265T	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or52e3	A	T	7: 102,869,446 (GRCm39)	N174Y	probably benign	Het
Or5k16	T	A	16: 58,736,248 (GRCm39)	Y252F	probably damaging	Het
Or7g16	A	G	9: 18,726,919 (GRCm39)	S224P	probably damaging	Het
Pccb	A	T	9: 100,867,220 (GRCm39)	Y455*	probably null	Het
Pdk2	A	T	11: 94,923,339 (GRCm39)	I95N	probably damaging	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pkd1l2	A	G	8: 117,726,660 (GRCm39)	L2282P	probably damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Prdm1	A	T	10: 44,315,749 (GRCm39)	S796T	probably benign	Het
Rb1	A	G	14: 73,503,000 (GRCm39)	F424L	probably damaging	Het
Retreg3	A	G	11: 100,992,852 (GRCm39)	L190P	probably damaging	Het
Rlbp1	A	G	7: 79,025,704 (GRCm39)	Y246H	probably damaging	Het
Rock2	T	A	12: 17,015,655 (GRCm39)		probably benign	Het
Slc17a3	C	A	13: 24,039,575 (GRCm39)	C244*	probably null	Het
Snapc1	T	C	12: 74,021,812 (GRCm39)	S304P	probably benign	Het
Sp9	T	C	2: 73,104,019 (GRCm39)	L191P	probably damaging	Het
Spag17	A	T	3: 99,889,738 (GRCm39)	E202D	probably benign	Het
Ss18	A	G	18: 14,760,344 (GRCm39)	*419R	probably null	Het
Tacc2	A	G	7: 130,276,421 (GRCm39)	E1824G	possibly damaging	Het
Tacc3	T	A	5: 33,824,029 (GRCm39)		probably benign	Het
Tfap2a	A	T	13: 40,870,829 (GRCm39)	L353Q	probably damaging	Het
Ugt3a1	A	G	15: 9,367,345 (GRCm39)	I363V	possibly damaging	Het
Vmn1r158	A	G	7: 22,489,775 (GRCm39)	C145R	probably damaging	Het
Vmn1r23	A	T	6: 57,903,352 (GRCm39)	I142K	probably damaging	Het
Vmn2r15	A	T	5: 109,434,874 (GRCm39)	I610N	probably benign	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,759,506 (GRCm39)		probably benign	Het
Zbtb7c	T	C	18: 76,270,190 (GRCm39)	Y93H	probably damaging	Het
Zfp62	A	G	11: 49,107,238 (GRCm39)	N443S	probably damaging	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
IGL01295:Rffl	APN	11	82,709,283 (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
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

Predicted Primers

PCR Primer
(F):5'- GCTCTGAGGACTGAACTGTG -3'
(R):5'- TTCCTTGAGAGCTTGCAGGAC -3'

Sequencing Primer
(F):5'- GAGGACTGAACTGTGTATTCAATGCC -3'
(R):5'- GTCCGTTGACTCAGAGGACAG -3'

Posted On

2021-04-30