Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Zfyve28'

607496

Institutional Source

Beutler Lab

Gene Symbol

Zfyve28

Ensembl Gene

ENSMUSG00000037224

Gene Name

zinc finger, FYVE domain containing 28

Synonyms

9630058O20Rik

MMRRC Submission

045914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34194893-34288449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34217143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 509 (L509Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094868]

AlphaFold

Q6ZPK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094868
AA Change: L509Q

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

SMART Domains

Protein: ENSMUSP00000092464
Gene: ENSMUSG00000037224
AA Change: L509Q

Domain	Start	End	E-Value	Type
low complexity region	718	730	N/A	INTRINSIC
FYVE	827	896	8.73e-25	SMART

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,649,494	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,357,249	D1175G	probably null	Het
Accs	C	A	2: 93,835,732	*503L	probably null	Het
Adgra2	A	G	8: 27,114,457	E520G	probably damaging	Het
Aldh7a1	C	A	18: 56,548,453	C215F	probably benign	Het
Apbb1ip	A	C	2: 22,816,978	D9A	unknown	Het
Atad2	G	A	15: 58,125,780	A228V	probably benign	Het
Atp10a	T	C	7: 58,788,359	S430P	probably damaging	Het
Atp1a3	T	C	7: 25,001,148	D6G	unknown	Het
Brca1	A	T	11: 101,526,422	N295K	possibly damaging	Het
Caly	C	A	7: 140,081,388		probably benign	Het
Ces1h	A	G	8: 93,357,425	Y386H	unknown	Het
Col14a1	A	G	15: 55,444,616	D1044G	unknown	Het
Csf2rb	A	G	15: 78,349,157	D888G	probably damaging	Het
Cux1	T	C	5: 136,252,604	E568G	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Dhrs7b	T	A	11: 60,855,742	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dnah14	C	T	1: 181,616,759	P545S	probably damaging	Het
Dnajc24	A	T	2: 106,002,035	M1K	probably null	Het
Dusp12	C	T	1: 170,874,526	W301*	probably null	Het
Dyrk1a	G	T	16: 94,691,716	G603*	probably null	Het
Eif4g1	T	A	16: 20,679,702	V403E	probably benign	Het
Epn3	T	C	11: 94,496,274	E90G	probably damaging	Het
Etl4	A	G	2: 20,805,910	S1303G	probably benign	Het
Evpl	A	T	11: 116,228,069	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,664,557	L22*	probably null	Het
Fcamr	T	A	1: 130,814,638	N587K	probably benign	Het
Fgd6	A	G	10: 94,103,331	N946S	probably benign	Het
Fndc3b	A	T	3: 27,468,999	I477N	possibly damaging	Het
Grifin	C	T	5: 140,564,525	A54T	probably benign	Het
Gtf2b	A	G	3: 142,781,344	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,628,444	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,350,399	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,939,922	D617E	probably damaging	Het
Kifc3	T	A	8: 95,107,537		probably null	Het
Kirrel3	C	T	9: 35,020,123	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,466,838	V132I	probably benign	Het
Kmt2a	A	G	9: 44,818,734	S3429P	unknown	Het
Lama1	T	G	17: 67,809,221	L2361R		Het
Lrp1b	T	C	2: 40,697,558	D3895G		Het
Mcoln3	A	C	3: 146,124,791	E92A	possibly damaging	Het
Myo3b	T	C	2: 70,108,688	M135T	probably damaging	Het
Mysm1	A	G	4: 94,946,967	*820Q	probably null	Het
Ncoa7	A	G	10: 30,691,060	S541P	probably benign	Het
Nup54	T	C	5: 92,431,093	T33A	unknown	Het
Olfr118	C	A	17: 37,672,517	Q165K	possibly damaging	Het
Olfr1290	T	A	2: 111,490,024	I45F	probably damaging	Het
Olfr1496	T	C	19: 13,781,446	V276A	possibly damaging	Het
Olfr45	T	G	7: 140,691,571	I222S	probably damaging	Het
Olfr586	T	A	7: 103,122,692	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414	C18R	probably benign	Het
Pde4d	A	G	13: 109,935,324	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431		probably benign	Het
Pidd1	C	A	7: 141,440,142	W598L	probably damaging	Het
Pira2	A	T	7: 3,844,544	C49S	probably damaging	Het
Pramef6	T	C	4: 143,897,718	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,693,738	D135E	probably benign	Het
Rab15	T	A	12: 76,803,129	Y88F	probably damaging	Het
Rem2	C	A	14: 54,477,799	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,144,064	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,147,819	Q119*	probably null	Het
Suclg2	G	T	6: 95,594,722	Q120K	probably benign	Het
Tacc2	T	A	7: 130,625,431	M1282K	probably benign	Het
Tbc1d5	T	A	17: 50,756,692	Q620L	probably damaging	Het
Tdrd3	G	T	14: 87,472,154	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,159,698	F1184Y	probably benign	Het
Trim28	T	A	7: 13,028,412	V321E	possibly damaging	Het
Trim5	C	A	7: 104,266,468		probably null	Het
Ugt2b37	A	T	5: 87,242,440	Y382*	probably null	Het
Usp40	C	T	1: 87,982,130	G534D	probably damaging	Het
Usp53	A	T	3: 122,934,463	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,087,963	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,715,424	I296F	probably benign	Het
Vps13a	T	C	19: 16,655,304	S2563G	probably damaging	Het
Wdr59	A	G	8: 111,494,280	F207L		Het
Zan	A	G	5: 137,407,033	S3777P	unknown	Het
Zfp277	T	C	12: 40,315,881	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,909,919	R10W	probably damaging	Het
Zfp384	A	T	6: 125,036,325	H452L	probably damaging	Het

Other mutations in Zfyve28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Zfyve28	APN	5	34243195	missense	probably damaging	0.98
IGL02201:Zfyve28	APN	5	34243205	missense	probably damaging	1.00
PIT4418001:Zfyve28	UTSW	5	34233377	missense	probably damaging	1.00
R0499:Zfyve28	UTSW	5	34232206	missense	possibly damaging	0.65
R1226:Zfyve28	UTSW	5	34217064	missense	probably benign	0.00
R1290:Zfyve28	UTSW	5	34198801	missense	probably benign	0.00
R1351:Zfyve28	UTSW	5	34232205	missense	probably damaging	1.00
R1418:Zfyve28	UTSW	5	34217246	missense	probably damaging	0.99
R2062:Zfyve28	UTSW	5	34234337	missense	probably null	0.73
R2212:Zfyve28	UTSW	5	34199684	missense	probably benign	0.02
R2443:Zfyve28	UTSW	5	34216894	missense	possibly damaging	0.64
R2851:Zfyve28	UTSW	5	34196662	missense	probably damaging	1.00
R2852:Zfyve28	UTSW	5	34196662	missense	probably damaging	1.00
R3412:Zfyve28	UTSW	5	34199684	missense	probably benign	0.02
R3413:Zfyve28	UTSW	5	34199684	missense	probably benign	0.02
R3694:Zfyve28	UTSW	5	34217468	missense	probably damaging	1.00
R4645:Zfyve28	UTSW	5	34222443	intron	probably benign
R4700:Zfyve28	UTSW	5	34217845	missense	probably damaging	1.00
R4938:Zfyve28	UTSW	5	34233354	missense	probably damaging	0.99
R5384:Zfyve28	UTSW	5	34216967	missense	probably damaging	1.00
R5908:Zfyve28	UTSW	5	34216870	missense	possibly damaging	0.62
R5936:Zfyve28	UTSW	5	34224988	missense	probably damaging	1.00
R6260:Zfyve28	UTSW	5	34198872	missense	probably damaging	0.99
R6862:Zfyve28	UTSW	5	34288105	missense	probably benign	0.10
R7172:Zfyve28	UTSW	5	34234409	missense	probably benign	0.42
R7243:Zfyve28	UTSW	5	34198875	missense	probably damaging	1.00
R7366:Zfyve28	UTSW	5	34232227	missense	probably damaging	1.00
R7598:Zfyve28	UTSW	5	34236117	missense	probably damaging	1.00
R7654:Zfyve28	UTSW	5	34243195	missense	probably damaging	1.00
R7752:Zfyve28	UTSW	5	34224982	missense	probably damaging	1.00
R7878:Zfyve28	UTSW	5	34199655	missense	probably damaging	1.00
R7901:Zfyve28	UTSW	5	34224982	missense	probably damaging	1.00
R8116:Zfyve28	UTSW	5	34217600	missense	probably damaging	0.96
R8483:Zfyve28	UTSW	5	34236136	missense	possibly damaging	0.67
R8799:Zfyve28	UTSW	5	34233326	missense	probably damaging	1.00
R8883:Zfyve28	UTSW	5	34217867	critical splice acceptor site	probably null
R8912:Zfyve28	UTSW	5	34217311	missense	probably benign	0.01
R9179:Zfyve28	UTSW	5	34225032	missense	probably benign	0.01
R9228:Zfyve28	UTSW	5	34217444	missense	probably benign
R9381:Zfyve28	UTSW	5	34216588	missense	probably benign	0.09
R9432:Zfyve28	UTSW	5	34243289	missense	possibly damaging	0.92
R9509:Zfyve28	UTSW	5	34197548	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- ACTGATGACACTTCCTGGGC -3'
(R):5'- TAATGCCCAGCAGAGAGGAC -3'

Sequencing Primer
(F):5'- TGACACTTCCTGGGCCACAC -3'
(R):5'- GCACCTGCCCTGGTAAAG -3'

Posted On

2019-12-20