Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Rufy2'

67576

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

038912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0731 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

62816002-62852989 bp(+) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

G to A at 62847623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020263] [ENSMUST00000118898] [ENSMUST00000119567] [ENSMUST00000140743] [ENSMUST00000143594]

AlphaFold

Q8R4C2

Predicted Effect

probably benign
Transcript: ENSMUST00000020263

SMART Domains

Protein: ENSMUSP00000020263
Gene: ENSMUSG00000020069

Domain	Start	End	E-Value	Type
RRM	17	89	1.11e-7	SMART
low complexity region	102	191	N/A	INTRINSIC
RRM	196	266	7.96e-9	SMART
low complexity region	272	286	N/A	INTRINSIC
low complexity region	294	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118898

SMART Domains

Protein: ENSMUSP00000112424
Gene: ENSMUSG00000020069

Domain	Start	End	E-Value	Type
RRM	17	89	1.11e-7	SMART
low complexity region	102	176	N/A	INTRINSIC
RRM	181	251	7.96e-9	SMART
low complexity region	257	271	N/A	INTRINSIC
low complexity region	279	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119567

SMART Domains

Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070

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 benign
Transcript: ENSMUST00000140743

SMART Domains

Protein: ENSMUSP00000118444
Gene: ENSMUSG00000020069

Domain	Start	End	E-Value	Type
PDB:1WG5\|A	10	39	3e-11	PDB
Blast:RRM	17	43	6e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141616

Predicted Effect

probably benign
Transcript: ENSMUST00000143594

SMART Domains

Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070

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: ENSMUST00000143689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143726

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	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
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
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'- TCTGTAATGCCTGCTCTGACAACG -3'
(R):5'- GGCACCTTCAAGTGCCTACTCATC -3'

Sequencing Primer
(F):5'- TGACAACGAGCTGCCTTTG -3'
(R):5'- GTGCCTACTCATCAGTTCAGAAG -3'

Posted On

2013-09-03