Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Rufy2'

276732

Institutional Source

Beutler Lab

Gene Symbol

Rufy2

Ensembl Gene

ENSMUSG00000020070

Gene Name

RUN and FYVE domain-containing 2

Synonyms

ZFYVE13, 2610111M19Rik, LZ-FYVE, Denn

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62816002-62852989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62833916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 294 (L294P)

Ref Sequence

ENSEMBL: ENSMUSP00000113429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062600] [ENSMUST00000119567] [ENSMUST00000122231] [ENSMUST00000131718] [ENSMUST00000143594]

AlphaFold

Q8R4C2

Predicted Effect

probably benign
Transcript: ENSMUST00000062600

SMART Domains

Protein: ENSMUSP00000059982
Gene: ENSMUSG00000020070

Domain	Start	End	E-Value	Type
RUN	105	167	3.02e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119567
AA Change: L294P

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

SMART Domains

Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
AA Change: L294P

Domain	Start	End	E-Value	Type
RUN	105	167	3.02e-22	SMART
coiled coil region	210	268	N/A	INTRINSIC
coiled coil region	326	515	N/A	INTRINSIC
FYVE	532	599	6.99e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122231
AA Change: L260P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070
AA Change: L260P

Domain	Start	End	E-Value	Type
Pfam:RUN	45	100	6.2e-9	PFAM
low complexity region	110	123	N/A	INTRINSIC
coiled coil region	176	234	N/A	INTRINSIC
coiled coil region	292	372	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129470

Predicted Effect

probably damaging
Transcript: ENSMUST00000131718
AA Change: L294P

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

SMART Domains

Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070
AA Change: L294P

Domain	Start	End	E-Value	Type
RUN	105	167	3.02e-22	SMART
coiled coil region	210	268	N/A	INTRINSIC
coiled coil region	326	406	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000143594
AA Change: L294P

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

SMART Domains

Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
AA Change: L294P

Domain	Start	End	E-Value	Type
RUN	105	167	3.02e-22	SMART
coiled coil region	210	268	N/A	INTRINSIC
coiled coil region	326	406	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143726

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,012,301 (GRCm39)	G26*	probably null	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061 (GRCm38)	I407T	probably benign	Het
Adam8	T	C	7: 139,567,520 (GRCm39)	N408D	probably damaging	Het
Adgre1	A	T	17: 57,708,925 (GRCm39)	T39S	probably benign	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Arid1b	T	A	17: 5,386,790 (GRCm39)		probably null	Het
Atp2c2	A	G	8: 120,462,035 (GRCm39)	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,827,118 (GRCm39)	V144I	probably benign	Het
Camk4	A	G	18: 33,291,907 (GRCm39)	E189G	possibly damaging	Het
Casz1	A	G	4: 149,024,046 (GRCm39)		probably benign	Het
Ccdc134	T	C	15: 82,015,643 (GRCm39)	V41A	possibly damaging	Het
Chrd	A	T	16: 20,557,660 (GRCm39)	T753S	probably damaging	Het
Cracd	A	G	5: 76,988,739 (GRCm39)	D30G	probably damaging	Het
Cyb561a3	T	C	19: 10,562,735 (GRCm39)	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606 (GRCm39)	T69S	probably benign	Het
Dchs1	A	G	7: 105,410,842 (GRCm39)	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnai2	G	T	11: 114,623,781 (GRCm39)	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,410,109 (GRCm39)	I526V	probably benign	Het
Far2	G	A	6: 148,052,089 (GRCm39)	E123K	probably benign	Het
Gli1	A	T	10: 127,166,088 (GRCm39)	V1055E	probably damaging	Het
Hand2	G	T	8: 57,775,011 (GRCm39)	A24S	probably benign	Het
Helb	T	C	10: 119,941,942 (GRCm39)	I249V	probably benign	Het
Hspa4l	G	A	3: 40,727,074 (GRCm39)	V492M	probably damaging	Het
Hspg2	T	C	4: 137,266,660 (GRCm39)	I1916T	probably damaging	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Kcnu1	T	A	8: 26,375,345 (GRCm39)	L353H	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Klhl13	T	C	X: 23,151,415 (GRCm39)	D21G	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Mansc1	T	C	6: 134,587,146 (GRCm39)	R344G	possibly damaging	Het
Mier2	G	T	10: 79,377,631 (GRCm39)	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,358,957 (GRCm39)		probably null	Het
Nedd4l	G	A	18: 65,300,606 (GRCm39)	A243T	probably benign	Het
Notch4	T	A	17: 34,797,043 (GRCm39)	C934*	probably null	Het
Nsmce3	C	T	7: 64,521,916 (GRCm39)	D251N	probably damaging	Het
Or10a49	C	T	7: 108,468,335 (GRCm39)	V9M	probably damaging	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or3a10	A	G	11: 73,935,525 (GRCm39)	C192R	probably damaging	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Or8g23	A	G	9: 38,971,470 (GRCm39)	I164T	probably benign	Het
Pdzd7	T	C	19: 45,034,067 (GRCm39)	T6A	probably benign	Het
Picalm	T	A	7: 89,838,427 (GRCm39)	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,900,651 (GRCm39)	M1T	probably null	Het
Prl8a1	T	C	13: 27,759,441 (GRCm39)	K199E	possibly damaging	Het
Rims1	C	T	1: 22,498,740 (GRCm39)	R764H	probably damaging	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,314,213 (GRCm39)	T491K	probably benign	Het
Slc35b3	T	C	13: 39,127,044 (GRCm39)	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,017,489 (GRCm39)	F429L	probably benign	Het
Sulf1	T	C	1: 12,887,636 (GRCm39)	I270T	probably damaging	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Tnc	T	A	4: 63,926,947 (GRCm39)	I860F	probably damaging	Het
Trh	A	T	6: 92,220,679 (GRCm39)	V61E	possibly damaging	Het
Ttn	T	G	2: 76,584,443 (GRCm39)	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,338,494 (GRCm39)	K652*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,831,954 (GRCm39)	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,627,032 (GRCm39)	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,315,856 (GRCm39)	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,722,317 (GRCm39)	A332T	probably benign	Het
Zfp568	T	A	7: 29,722,821 (GRCm39)	C589S	probably damaging	Het

Other mutations in Rufy2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Rufy2	APN	10	62,826,833 (GRCm39)	missense	probably damaging	0.98
IGL01516:Rufy2	APN	10	62,847,212 (GRCm39)	missense	possibly damaging	0.82
IGL02811:Rufy2	APN	10	62,836,106 (GRCm39)	missense	probably damaging	1.00
IGL03244:Rufy2	APN	10	62,840,483 (GRCm39)	missense	probably benign	0.08
PIT4434001:Rufy2	UTSW	10	62,826,845 (GRCm39)	missense	possibly damaging	0.60
R0071:Rufy2	UTSW	10	62,824,946 (GRCm39)	missense	possibly damaging	0.95
R0448:Rufy2	UTSW	10	62,840,515 (GRCm39)	missense	probably benign
R0496:Rufy2	UTSW	10	62,828,949 (GRCm39)	missense	probably damaging	1.00
R0723:Rufy2	UTSW	10	62,833,873 (GRCm39)	missense	probably benign	0.43
R0731:Rufy2	UTSW	10	62,847,623 (GRCm39)	critical splice donor site	probably benign
R1236:Rufy2	UTSW	10	62,830,549 (GRCm39)	missense	probably benign	0.36
R1414:Rufy2	UTSW	10	62,837,978 (GRCm39)	nonsense	probably null
R1600:Rufy2	UTSW	10	62,842,450 (GRCm39)	missense	probably benign	0.00
R1626:Rufy2	UTSW	10	62,831,151 (GRCm39)	missense	probably benign	0.43
R2035:Rufy2	UTSW	10	62,842,526 (GRCm39)	missense	probably damaging	0.99
R2141:Rufy2	UTSW	10	62,826,773 (GRCm39)	missense	probably damaging	1.00
R2962:Rufy2	UTSW	10	62,836,039 (GRCm39)	missense	probably damaging	0.96
R4206:Rufy2	UTSW	10	62,840,551 (GRCm39)	nonsense	probably null
R4321:Rufy2	UTSW	10	62,818,459 (GRCm39)	missense	probably damaging	1.00
R4878:Rufy2	UTSW	10	62,837,990 (GRCm39)	missense	probably damaging	1.00
R5636:Rufy2	UTSW	10	62,833,733 (GRCm39)	missense	probably damaging	1.00
R7382:Rufy2	UTSW	10	62,833,748 (GRCm39)	missense	probably benign	0.04
R7714:Rufy2	UTSW	10	62,838,772 (GRCm39)	missense	probably benign	0.01
R8278:Rufy2	UTSW	10	62,843,472 (GRCm39)	missense	probably benign	0.27
R8777:Rufy2	UTSW	10	62,833,660 (GRCm39)	missense	possibly damaging	0.86
R8777-TAIL:Rufy2	UTSW	10	62,833,660 (GRCm39)	missense	possibly damaging	0.86
R9181:Rufy2	UTSW	10	62,836,166 (GRCm39)	missense	possibly damaging	0.94
R9756:Rufy2	UTSW	10	62,818,519 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGCTCGGAGTGACTCTG -3'
(R):5'- TGGGTGTCAGGTTCTACTCCAC -3'

Sequencing Primer
(F):5'- CTGATCTTAATGAGAACTCGGCAGC -3'
(R):5'- GGTTCTACTCCACCTCCAAGAG -3'

Posted On

2015-04-06