Mutagenetix > Incidental Mutation

Incidental Mutation 'R9181:Rufy2'

697037

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62816002-62852989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62836166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 365 (Y365F)

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

possibly damaging
Transcript: ENSMUST00000119567
AA Change: Y365F

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
AA Change: Y365F

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

possibly damaging
Transcript: ENSMUST00000122231
AA Change: Y331F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070
AA Change: Y331F

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

probably benign
Transcript: ENSMUST00000131718
AA Change: Y365F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070
AA Change: Y365F

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 benign
Transcript: ENSMUST00000143594
AA Change: Y365F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
AA Change: Y365F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	T	5: 105,121,962 (GRCm39)	D138E	probably benign	Het
Acvr2a	T	A	2: 48,760,307 (GRCm39)	I21K	probably damaging	Het
Adam30	C	G	3: 98,070,194 (GRCm39)	P676A	probably benign	Het
Ankrd28	A	C	14: 31,470,627 (GRCm39)	H145Q	probably damaging	Het
Ap3m2	A	G	8: 23,289,774 (GRCm39)	Y110H	probably damaging	Het
Apoc4	A	G	7: 19,412,665 (GRCm39)	S27P	possibly damaging	Het
Bbs1	A	C	19: 4,941,070 (GRCm39)	L548R	possibly damaging	Het
Cfap99	A	T	5: 34,471,602 (GRCm39)	D346V	probably damaging	Het
Ckmt1	T	A	2: 121,189,870 (GRCm39)		probably benign	Het
Col13a1	T	C	10: 61,703,612 (GRCm39)	K436E	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Dbf4	A	G	5: 8,462,206 (GRCm39)	V105A	possibly damaging	Het
Disp2	T	A	2: 118,617,393 (GRCm39)	V129E	probably benign	Het
Dnah7b	T	C	1: 46,181,194 (GRCm39)	V1027A	probably damaging	Het
Dst	T	A	1: 34,231,818 (GRCm39)	I3137N	probably benign	Het
F5	A	G	1: 164,019,895 (GRCm39)	D790G	probably benign	Het
Fan1	A	G	7: 64,016,400 (GRCm39)	S575P	probably damaging	Het
Gemin5	C	T	11: 58,021,035 (GRCm39)	A1051T	probably benign	Het
Gsta4	A	G	9: 78,105,597 (GRCm39)	Y9C	probably damaging	Het
H2-M3	C	A	17: 37,583,172 (GRCm39)	A211E	probably damaging	Het
Ifna1	A	T	4: 88,768,453 (GRCm39)	M44L	probably benign	Het
Ildr2	A	T	1: 166,122,283 (GRCm39)	D242V	probably damaging	Het
Kif27	G	T	13: 58,492,543 (GRCm39)	Q199K	probably damaging	Het
Lmf1	T	A	17: 25,804,718 (GRCm39)	L132H	probably damaging	Het
Mbtd1	A	G	11: 93,803,241 (GRCm39)	N173S	probably benign	Het
Mettl25b	A	G	3: 87,835,392 (GRCm39)		probably benign	Het
Mgat4c	A	T	10: 102,225,123 (GRCm39)	N446Y	probably benign	Het
Minar1	A	G	9: 89,485,394 (GRCm39)	M1T	probably null	Het
Mocs1	T	A	17: 49,756,801 (GRCm39)	M261K	probably damaging	Het
Nlrp10	A	T	7: 108,524,108 (GRCm39)	F457L	probably damaging	Het
Nlrp4e	C	T	7: 23,061,270 (GRCm39)	R954*	probably null	Het
Or4s2	T	C	2: 88,473,348 (GRCm39)	M79T	probably benign	Het
Pigu	T	C	2: 155,141,109 (GRCm39)	I261M	probably damaging	Het
Pkd1l3	T	A	8: 110,375,318 (GRCm39)	I1576N	probably damaging	Het
Plekhg6	A	C	6: 125,355,854 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,365 (GRCm39)	L388P	probably damaging	Het
Polg	A	T	7: 79,104,421 (GRCm39)	I818N	probably damaging	Het
Pramel46	A	T	5: 95,418,414 (GRCm39)	V194D	probably benign	Het
Radil	A	G	5: 142,480,722 (GRCm39)	Y578H	probably damaging	Het
Retnlb	A	G	16: 48,639,084 (GRCm39)	D95G	probably damaging	Het
Ssc5d	A	G	7: 4,945,814 (GRCm39)	T949A	possibly damaging	Het
Svil	C	A	18: 5,090,833 (GRCm39)	R1312S	possibly damaging	Het
Syne1	T	C	10: 5,063,994 (GRCm39)	T7142A	probably damaging	Het
Tert	A	T	13: 73,785,294 (GRCm39)		probably benign	Het
Tpbgl	A	T	7: 99,274,776 (GRCm39)	D360E	probably damaging	Het
Traj13	G	A	14: 54,443,248 (GRCm39)	V17I	unknown	Het
Trim13	G	A	14: 61,842,046 (GRCm39)	R21Q	possibly damaging	Het
Wdr36	T	C	18: 32,981,382 (GRCm39)	V357A	possibly damaging	Het
Xdh	G	A	17: 74,232,006 (GRCm39)	R235C	probably damaging	Het
Zfp971	T	C	2: 177,674,736 (GRCm39)	F112L	probably damaging	Het
Znfx1	C	T	2: 166,879,738 (GRCm39)	C1546Y	probably damaging	Het
Znfx1	T	A	2: 166,880,137 (GRCm39)	E1413V	probably benign	Het
Zscan4c	A	G	7: 10,743,741 (GRCm39)	M447V	probably benign	Het
Zyx	T	A	6: 42,334,818 (GRCm39)	D541E	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
R3874:Rufy2	UTSW	10	62,833,916 (GRCm39)	missense	probably damaging	1.00
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
R9756:Rufy2	UTSW	10	62,818,519 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTGAAATTGCAGGATGTG -3'
(R):5'- TGTAGTCTGCCCCAACACTG -3'

Sequencing Primer
(F):5'- TGTGGAGAATGAGCTATCAGTAC -3'
(R):5'- CGTGGTGGCACAAACTTAATTCC -3'

Posted On

2022-02-07