Mutagenetix > Incidental Mutations

Incidental Mutation 'R1709:Zfyve19'

190287

Institutional Source

Beutler Lab

Gene Symbol

Zfyve19

Ensembl Gene

ENSMUSG00000068580

Gene Name

zinc finger, FYVE domain containing 19

Synonyms

MMRRC Submission

039742-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R1709 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119208617-119217049 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119210819 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 72 (Q72P)

Ref Sequence

ENSEMBL: ENSMUSP00000099577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038439] [ENSMUST00000090174] [ENSMUST00000102519]

Predicted Effect

probably benign
Transcript: ENSMUST00000038439

SMART Domains

Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278

Domain	Start	End	E-Value	Type
DnaJ	10	68	3.66e-21	SMART
coiled coil region	112	151	N/A	INTRINSIC
low complexity region	172	181	N/A	INTRINSIC
Pfam:RRM_1	187	243	1.8e-6	PFAM
Pfam:RRM_5	194	246	1.7e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000090174
AA Change: Q72P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087636
Gene: ENSMUSG00000068580
AA Change: Q72P

Domain	Start	End	E-Value	Type
FYVE	2	59	4.32e-6	SMART
RING	8	53	5.56e-1	SMART
low complexity region	167	187	N/A	INTRINSIC
coiled coil region	226	260	N/A	INTRINSIC
low complexity region	325	335	N/A	INTRINSIC
PDB:2D8V\|A	336	389	2e-35	PDB
Blast:RING	339	380	7e-21	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000102519
AA Change: Q72P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099577
Gene: ENSMUSG00000068580
AA Change: Q72P

Domain	Start	End	E-Value	Type
FYVE	2	59	4.32e-6	SMART
RING	8	53	5.56e-1	SMART
low complexity region	167	187	N/A	INTRINSIC
coiled coil region	226	260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154185

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	C	T	5: 9,440,726	R579*	probably null	Het
Aacs	A	G	5: 125,489,878	K152E	probably benign	Het
Adgrd1	T	C	5: 129,179,228	V641A	possibly damaging	Het
Adgrv1	A	T	13: 81,593,060	V95E	probably damaging	Het
Agbl5	G	A	5: 30,906,241	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,715,952	T201K	probably damaging	Het
Aox1	C	T	1: 58,077,474	A788V	probably benign	Het
Apob	T	C	12: 8,009,306	V2563A	probably damaging	Het
Atcay	G	A	10: 81,213,231	T179I	probably damaging	Het
Atf5	A	T	7: 44,813,283	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,315,841	T1205A	probably benign	Het
Atr	C	T	9: 95,871,076	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,507,528	E25G	possibly damaging	Het
Brap	T	C	5: 121,665,290		probably null	Het
C6	G	T	15: 4,790,970	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133	F180S	probably damaging	Het
Cd207	T	C	6: 83,672,836	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 180,067,224	C323F	probably damaging	Het
Cfap57	T	C	4: 118,571,704	T1022A	probably benign	Het
Cmtr2	A	T	8: 110,221,949	Q297L	probably benign	Het
Coro7	A	T	16: 4,634,441		probably null	Het
Cpsf2	T	A	12: 101,999,542	Y589N	probably damaging	Het
Cpxm2	T	C	7: 132,059,834	Y408C	probably damaging	Het
Crocc	A	G	4: 141,026,099		probably null	Het
Cryzl1	A	C	16: 91,712,236	F59C	probably damaging	Het
Csmd2	T	C	4: 128,496,195	V2241A	probably damaging	Het
Cxcl15	C	A	5: 90,801,416	H147N	unknown	Het
Dennd4a	A	G	9: 64,889,605	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,760,091	P966L	probably damaging	Het
Dpp9	T	A	17: 56,194,431	M594L	probably benign	Het
Dspp	C	A	5: 104,175,724	N244K	probably damaging	Het
Efcab8	T	A	2: 153,814,370		probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fbxw17	A	G	13: 50,431,657	M299V	probably benign	Het
Fbxw7	T	A	3: 84,976,352	I530N	probably damaging	Het
Gm13023	T	C	4: 143,793,546	V120A	possibly damaging	Het
Gp2	C	A	7: 119,451,585	D308Y	probably null	Het
Gpd2	G	A	2: 57,357,655	V537M	probably damaging	Het
Gpr18	T	A	14: 121,911,992	Y207F	probably damaging	Het
Grip1	A	T	10: 119,897,715	D20V	probably damaging	Het
Gzmf	A	C	14: 56,206,940	F59V	probably damaging	Het
Hist1h3a	T	A	13: 23,761,981	I125F	probably damaging	Het
Igfn1	T	C	1: 135,955,573	I2732V	probably benign	Het
Ipo8	A	T	6: 148,782,728	D855E	probably benign	Het
Klrk1	A	T	6: 129,614,719		probably null	Het
Megf11	A	G	9: 64,695,412	Y876C	probably damaging	Het
Mettl8	G	T	2: 70,982,151	Q12K	probably benign	Het
Mrgprf	T	C	7: 145,308,217	F172S	probably benign	Het
Mycbp2	G	A	14: 103,224,416	T1432I	probably damaging	Het
Nek11	A	C	9: 105,348,061	L84R	probably damaging	Het
Nlrp1b	T	C	11: 71,201,273	E9G	probably benign	Het
Nrxn1	T	C	17: 90,037,187	I433V	probably damaging	Het
Nup153	A	G	13: 46,693,974	C660R	probably damaging	Het
Olfr108	T	A	17: 37,446,200	Y226*	probably null	Het
Olfr1427	G	T	19: 12,098,881	P253T	probably damaging	Het
Olfr196	T	A	16: 59,167,901	M81L	probably benign	Het
Olfr447	T	C	6: 42,912,144	V207A	possibly damaging	Het
P2rx7	T	A	5: 122,670,465	N303K	possibly damaging	Het
Pank4	T	C	4: 154,970,047	L159P	probably damaging	Het
Pcdhb22	A	T	18: 37,518,500	H7L	probably benign	Het
Pdzd8	A	T	19: 59,301,339	I543N	probably benign	Het
Prrc2b	C	A	2: 32,194,461	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827	C600R	probably benign	Het
Rem1	G	A	2: 152,634,535	V238M	probably damaging	Het
Rfx6	T	A	10: 51,678,402	M113K	possibly damaging	Het
Rlf	A	T	4: 121,149,823	D653E	probably benign	Het
Rnf130	A	G	11: 50,087,386	D258G	possibly damaging	Het
Robo2	A	G	16: 73,956,523	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,800,336	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,483,506	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,549,857	D913E	probably benign	Het
Sfr1	G	T	19: 47,735,003	E315D	possibly damaging	Het
Smarca5	G	A	8: 80,709,220	R763*	probably null	Het
Sugct	A	C	13: 17,672,566	I44S	probably damaging	Het
Syce1l	A	G	8: 113,654,030		probably null	Het
Tbc1d8b	A	G	X: 139,734,080	I654V	probably benign	Het
Tcf23	T	A	5: 30,973,508	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,011,606		probably null	Het
Tmem158	T	C	9: 123,259,885	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 123,169,982	T332A	probably benign	Het
Trappc4	T	C	9: 44,407,211	T31A	probably benign	Het
Trim27	T	C	13: 21,188,065		probably null	Het
Ttyh2	T	A	11: 114,708,475	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,639,532	L578*	probably null	Het
Txndc11	C	A	16: 11,128,701	E83*	probably null	Het
Utp20	T	C	10: 88,749,297	K2635R	probably benign	Het
V1ra8	C	T	6: 90,203,322	T169I	probably damaging	Het
Vcl	G	A	14: 21,019,373	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,279,111	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,194,389	M683T	probably benign	Het
Xirp2	A	G	2: 67,509,871	I819V	probably benign	Het
Zfp735	T	C	11: 73,711,763	F511S	probably benign	Het
Zfp831	T	C	2: 174,645,890	V786A	probably benign	Het
Zfp992	T	A	4: 146,466,492	H223Q	probably benign	Het

Other mutations in Zfyve19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01078:Zfyve19	APN	2	119216500	nonsense	probably null
IGL01369:Zfyve19	APN	2	119210613	splice site	probably benign
IGL02387:Zfyve19	APN	2	119216426	unclassified	probably benign
IGL02623:Zfyve19	APN	2	119212015	critical splice donor site	probably null
IGL02904:Zfyve19	APN	2	119210472	splice site	probably benign
IGL02938:Zfyve19	APN	2	119211518	missense	probably benign
IGL03190:Zfyve19	APN	2	119216236	missense	probably damaging	0.98
R0653:Zfyve19	UTSW	2	119211215	missense	probably benign	0.00
R0835:Zfyve19	UTSW	2	119210785	missense	probably benign	0.41
R1824:Zfyve19	UTSW	2	119211535	missense	probably benign	0.00
R1938:Zfyve19	UTSW	2	119211212	missense	probably benign
R3699:Zfyve19	UTSW	2	119211239	missense	probably benign	0.03
R4177:Zfyve19	UTSW	2	119216212	missense	possibly damaging	0.48
R4191:Zfyve19	UTSW	2	119210831	missense	possibly damaging	0.84
R5492:Zfyve19	UTSW	2	119209114	start gained	probably benign
R5531:Zfyve19	UTSW	2	119211946	missense	probably damaging	0.99
R6349:Zfyve19	UTSW	2	119210597	missense	probably damaging	1.00
R7199:Zfyve19	UTSW	2	119216637	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTCTGCAAGCAGTGCCACAC -3'
(R):5'- ACCCATTCAAATCAATCTGGGCCTC -3'

Sequencing Primer
(F):5'- GCTCTGACAAGGGTTCAGAC -3'
(R):5'- TTCAAATCAATCTGGGCCTCTACAG -3'

Posted On

2014-05-14